PANELES:
Consulte por todos nuestros paneles disponibles y nuestros paneles customizables.
| ABCC8 | Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced |
| ABCD1 | Adrenoleukodystrophy |
| ABCD4 | Methylmalonic aciduria and homocystinuria |
| ACAA1 | Pseudo-Zellweger syndrome |
| ACAD9 | Acyl-CoA dehydrogenase family, deficiency |
| ACADL | Long chain acyl-CoA dehydrogenase deficiency |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency |
| ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
| ACAT1 | Alpha-methylacetoacetic aciduria |
| ACOX1 | Peroxisomal acyl-CoA oxidase deficiency |
| ACSF3 | Combined malonic and methylmalonic aciduria |
| ACY1 | Aminoacylase 1 deficiency |
| ADAMTSL2 | Geleophysic dysplasia |
| ADAR | Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria |
| ADCK3 | Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia |
| ADSL | Adenylosuccinase deficiency |
| AGA | Aspartylglucosaminuria |
| AGK | Sengers syndrome |
| AGL | Glycogen storage disease |
| AGPAT2 | Lipodystrophy, congenital generalized |
| AKT2 | Hypoinsulinemic hypoglycemia with hemihypertrophy |
| ALAD | Porphyria, acute hepatic |
| ALAS2 | Anemia, sideroblastic, Protoporphyria, erythropoietic |
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
| ALDH7A1 | Epilepsy, pyridoxine-dependent |
| ALDOA | Glycogen storage disease |
| ALG1 | Congenital disorder of glycosylation |
| ALG2 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
| ALG3 | Congenital disorder of glycosylation |
| ALG6 | Congenital disorder of glycosylation |
| ALG8 | Congenital disorder of glycosylation |
| ALG9 | Congenital disorder of glycosylation |
| ALG11 | Congenital disorder of glycosylation |
| ALG12 | Congenital disorder of glycosylation |
| ALG13 | Congenital disorder of glycosylation |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
| AMT | Glycine encephalopathy |
| ANO10 | Spinocerebellar ataxia |
| ANTXR2 | Fibromatosis, juveline hyaline, Hyalinosis, infantile systemic |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ARG1 | Hyperargininemia |
| ARSA | Metachromatic leukodystrophy |
| ARSB | Mucopolysaccharidosis (Maroteaux-Lamy) |
| ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy |
| ASL | Argininosuccinic aciduria |
| ASPA | Aspartoacylase deficiency (Canavan disease) |
| ASS1 | Citrullinemia |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) |
| AUH | 3-methylglutaconic aciduria |
| B3GLCT | Peters-plus syndrome |
| B4GALT1 | Congenital disorder of glycosylation |
| BCKDHA | Maple syrup urine disease |
| BCKDHB | Maple syrup urine disease |
| BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
| BTD | Biotinidase deficiency |
| C10ORF2 | Mitochondrial DNA depletion syndrome, Perrault syndrome |
| C12ORF65 | Combined oxidative phosphorylation deficiency, Spastic paraplegia |
| CACNA1S | Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis |
| CAV1 | Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency |
| CD320 | Methylmalonic aciduria due to transcobalamin receptor defect |
| CKMT1A | |
| CKMT1B | |
| CKMT2 | |
| CLCN1 | Myotonia congenita, Myotonia congenita, Myotonia levior |
| CLDN16 | Hypomagnesemia, renal |
| CLDN19 | Hypomagnesemia, renal |
| CLN3 | Ceroid lipofuscinosis, neuronal |
| CLN5 | Ceroid lipofuscinosis, neuronal |
| CLN6 | Ceroid lipofuscinosis, neuronal |
| CLN8 | Ceroid lipofuscinosis, neuronal |
| CNNM1 | Hypomagnesemia |
| CNNM2 | Hypomagnesemia, renal |
| CNNM4 | Jalili syndrome |
| COG1 | Congenital disorder of glycosylation |
| COG4 | Congenital disorder of glycosylation |
| COG5 | Congenital disorder of glycosylation |
| COG6 | Congenital disorder of glycosylation |
| COG7 | Congenital disorder of glycosylation |
| COG8 | Congenital disorder of glycosylation |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
| COQ2 | Coenzyme Q10 deficiency |
| COQ6 | Coenzyme Q10 deficiency |
| COQ9 | Coenzyme Q10 deficiency |
| CPOX | Coproporphyria, Harderoporphyria |
| CPS1 | Carbamoylphosphate synthetase I deficiency |
| CPT1A | Carnitine palmitoyltransferase deficiency |
| CPT1B | Carnitine palmitoyltransferase deficiency |
| CPT2 | Carnitine palmitoyltransferase II deficiency |
| CTNS | Cystinosis |
| CTSA | Galactosialidosis |
| CTSC | Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile |
| CTSD | Ceroid lipofuscinosis, neuronal |
| CTSK | Pycnodysostosis |
| DBT | Maple syrup urine disease |
| DDOST | Congenital disorder of glycosylation |
| DGUOK | Mitochondrial DNA depletion syndrome |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| DHDDS | Retinitis pigmentosa |
| DLD | Dihydrolipoyl dehydrogenase deficiency |
| DOLK | Congenital disorder of glycosylation |
| DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
| DPM1 | Congenital disorder of glycosylation |
| DPM2 | Congenital disorder of glycosylation |
| DPM3 | Congenital disorder of glycosylation |
| DPYD | 5-fluorouracil toxicity |
| DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
| ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| EGF | Hypomagnesemia, renal |
| ENO3 | Glycogen storage disease |
| EPM2A | Epilepsy, progressive myoclonic |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| FBP1 | Fructose-1,6-bisphosphatase deficiency |
| FBXL4 | Mitochondrial DNA depletion syndrome |
| FECH | Protoporphyria, erythropoietic |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FLNB | Atelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia |
| FOLR1 | Cerebral folate deficiency |
| FUCA1 | Fucosidosis |
| FXYD2 | Hypomagnesemia, renal |
| G6PC | Glycogen storage disease |
| GAA | Glycogen storage disease |
| GALC | Krabbe disease |
| GALNS | Mucopolysaccharidosis (Morquio syndrome) |
| GAMT | Guanidinoacetate methyltransferase deficiency |
| GATM | Arginine:glycine amidinotransferase deficiency |
| GBA | Gaucher disease |
| GBE1 | Glycogen storage disease |
| GCDH | Glutaric aciduria |
| GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
| GCK | Diabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial |
| GIF | Intrinsic factor deficiency |
| GLA | Fabry disease |
| GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) |
| GLDC | Glycine encephalopathy |
| GLUD1 | Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia |
| GMPPA | Alacrima, achalasia, and mental retardation syndrome |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
| GNPTAB | Mucolipidosis |
| GNPTG | Mucolipidosis |
| GNS | Mucopolysaccharidosis (Sanfilippo syndrome) |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| GPHN | Hyperekplexia, Molybdenum cofactor deficiency |
| GUSB | Mucopolysaccharidosis |
| GYG1 | Glycogen storage disease |
| GYS1 | Glycogen storage disease |
| GYS2 | Glycogen storage disease |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency |
| HADHA | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency |
| HADHB | Trifunctional protein deficiency |
| HAMP | Hemochromatosis |
| HCFC1 | Combined methylmalonic acidemia and hyperhomocysteinemia |
| HEXA | GM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease |
| HEXB | Sandhoff disease |
| HFE | Hemochromatosis |
| HFE2 | Hemochromatosis |
| HGSNAT | Mucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosa |
| HLCS | Holocarboxylase synthetase deficiency |
| HMBS | Hydroxymethylbilane synthase deficiency, Porphyria, acute intermittent |
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency |
| HNF1A | Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell |
| HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
| HNF4A | Congenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young |
| HPD | Hawksinuria, Tyrosinemia |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| HSD17B4 | Perrault syndrome |
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic |
| HYAL1 | Mucopolysaccharidosis |
| IDS | Mucopolysaccharidosis |
| IDUA | Mucopolysaccharidosis |
| IFIH1 | Singleton-Merten syndrome |
| INSR | Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome |
| ISCU | Myopathy with lactic acidosis |
| IVD | Isovaleric acidemia |
| KCNA1 | Episodic ataxia/myokymia syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNJ11 | Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia |
| L2HGDH | L-2-hydroxyglutaric aciduria |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LAMP2 | Danon disease |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LDHA | Glycogen storage disease |
| LIPA | Cholesterol ester storage disease, Wolman disease |
| LMBRD1 | Methylmalonic aciduria and homocystinuria |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LPIN1 | Myoglobinuria, acute, recurrent |
| MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia |
| MAN1B1 | Mental retardation |
| MANBA | Mannosidosis, lysosomal |
| MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
| MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| MCEE | Methylmalonyl-CoA epimerase deficiency |
| MCOLN1 | Mucolipidosis |
| MFN2 | Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy |
| MFSD8 | Ceroid lipofuscinosis, neuronal |
| MGAT2 | Congenital disorder of glycosylation |
| MMAA | Methylmalonic acidemia |
| MMAB | Methylmalonic acidemia |
| MMACHC | Methylmalonic aciduria and homocystinuria |
| MMADHC | Methylmalonic aciduria and homocystinuria |
| MMGT1 | Hypomagnesemia |
| MOCS1 | Molybdenum cofactor deficiency |
| MOCS2 | Molybdenum cofactor deficiency |
| MOGS | Congenital disorder of glycosylation |
| MPDU1 | Congenital disorder of glycosylation |
| MPI | Congenital disorder of glycosylation |
| MPV17 | Mitochondrial DNA depletion syndrome |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| MTR | Methylmalonic acidemia |
| MTRR | Homocystinuria-megaloblastic anemia, cobalamin E |
| MUT | Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency |
| MYOT | Myopathy, myofibrillar |
| NAGLU | Mucopolysaccharidosis (Sanfilippo syndrome) |
| NAGS | N-acetylglutamate synthase deficiency |
| NDUFS1 | Mitochondrial complex I deficiency |
| NEU1 | Sialidosis |
| NHLRC1 | Epilepsy, progressive myoclonic |
| NIPA2 | Hypomagnesemia |
| NPC1 | Niemann-Pick disease |
| NPC2 | Niemann-pick disease |
| OAT | Gyrate atrophy of choroid and retina |
| OPA1 | Glaucoma, normal tension |
| OPA3 | 3-methylglutaconic aciduria, Optic atrophy |
| OTC | Ornithine transcarbamylase deficiency |
| OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency |
| PAH | Hyperphenylalaninemia, non-PKU mild, Phenylketonuria |
| PC | Pyruvate carboxylase deficiency |
| PCBD1 | Hyperphenylalaninemia, BH4-deficient |
| PCCA | Propionic acidemia |
| PCCB | Propionic acidemia |
| PCK1 | Phosphoenolpyruvate carboxykinase 1 deficiency |
| PCK2 | Phosphoenolpyruvate carboxykinase 2 deficiency |
| PDHA1 | Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency |
| PDHB | Pyruvate dehydrogensae E1-beta deficiency |
| PDHX | Pyruvate dehydrogenase E3-binding protein deficiency |
| PDSS1 | Coenzyme Q10 deficiency |
| PDSS2 | Coenzyme Q10 deficiency |
| PDX1 | Neonatal diabetes mellitus, Pancreatic agenesis |
| PEX1 | Heimler syndrome |
| PEX2 | Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX3 | Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX5 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome |
| PEX6 | Heimler syndrome |
| PEX7 | Refsum disease, Rhizomelic CDP type 1 |
| PEX10 | Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX11B | Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX12 | Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX13 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX16 | Peroxisome biogenesis disorder, Zellweger syndrome |
| PEX26 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
| PFKM | Glycogen storage disease |
| PGAM2 | Glycogen storage disease |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PGM1 | Congenital disorder of glycosylation |
| PHKA1 | Glycogen storage disease |
| PHKA2 | Glycogen storage disease |
| PHKB | Glycogen storage disease |
| PHKG1 | Glycogen storage disease due to muscle phosphorylase kinase deficiency |
| PHKG2 | Glycogen storage disease |
| PHYH | Refsum disease |
| PLIN1 | Lipodystrophy, familial partial |
| PMM2 | Congenital disorder of glycosylation |
| POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| PPARG | Insulin resistance, Lipodystrophy, familial, partial |
| PPOX | Porphyria variegata |
| PPT1 | Ceroid lipofuscinosis, neuronal |
| PRKAG2 | Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome |
| PRKAG3 | Increased glyogen content in skeletal muscle |
| PRODH | Hyperprolinemia |
| PSAP | Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency |
| PTRF | Lipodystrophy, congenital generalized |
| PTS | Hyperphenylalaninemia, BH4-deficient |
| PYGL | Glycogen storage disease |
| PYGM | Glycogen storage disease |
| QDPR | Hyperphenylalaninemia, BH4-deficient |
| RAI1 | Smith-Magenis syndrome |
| RBCK1 | Polyglucosan body myopathy |
| RFT1 | Congenital disorder of glycosylation |
| RNASEH2A | Aicardi-Goutières syndrome |
| RNASEH2B | Aicardi-Goutières syndrome |
| RNASEH2C | Aicardi-Goutières syndrome |
| RPN2 | Congenital disorder of glycosylation |
| RRM2B | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RYR1 | Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy |
| SAMHD1 | Aicardi-Goutières syndrome |
| SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
| SEC23B | Anemia, dyserythropoietic congenital |
| SGSH | Mucopolysaccharidosis (Sanfilippo syndrome) |
| SLC2A2 | Fanconi-Bickel syndrome, Glycogen storage disease, Neonatal diabetes mellitus |
| SLC3A1 | Cystinuria |
| SLC6A8 | Creatine deficiency syndrome |
| SLC6A19 | |
| SLC7A7 | Lysinuric protein intolerance |
| SLC7A9 | Cystinuria |
| SLC12A3 | Gitelman syndrome |
| SLC16A1 | Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency |
| SLC17A5 | Infantile sialic acid storage disorder, Sialuria, Finnish (Salla disease) |
| SLC22A5 | Carnitine deficiency, systemic primary |
| SLC25A3 | Micochondrial phosphate carrier deficiency |
| SLC25A4 | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| SLC25A13 | Citrin deficiency |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SLC30A10 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| SLC35A1 | Congenital disorder of glycosylation |
| SLC35A2 | Congenital disorder of glycosylation |
| SLC35C1 | Congenital disorder of glycosylation, Leukocyte adhesion deficiency |
| SLC37A4 | Glycogen storage disease |
| SLC39A4 | Acrodermatitis enteropathica |
| SLC40A1 | Hemochromatosis |
| SLC41A2 | Hypomagnesemia |
| SLC41A3 | Hypomagnesemia |
| SLC46A1 | Folate malabsorption |
| SMPD1 | Niemann-Pick disease |
| SPG7 | Spastic paraplegia |
| SRD5A3 | Congenital disorder of glycosylation, Kahrizi syndrome |
| SSR4 | Congenital disorder of glycosylation |
| STT3A | Congenital disorder of glycosylation |
| STT3B | Congenital disorder of glycosylation |
| SUCLA2 | Mitochondrial DNA depletion syndrome |
| SUCLG1 | Mitochondrial DNA depletion syndrome |
| SUMF1 | Multiple sulfatase deficiency |
| SUOX | Sulfocysteinuria |
| TAZ | 3-Methylglutaconic aciduria, (Barth syndrome) |
| TBC1D4 | Diabetes mellitus, noninsulin-dependent |
| TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome |
| TCN2 | Transcobalamin II deficiency |
| TFR2 | Hemochromatosis |
| TIMM8A | Jensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia |
| TK2 | Mitochondrial DNA depletion syndrome |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency |
| TMEM126A | Optic atrophy |
| TMEM165 | Congenital disorder of glycosylation |
| TPP1 | Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia |
| TREX1 | Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy |
| TRPM6 | Hypomagnesemia, intestinal |
| TRPM7 | Amyotrophic lateral sclerosis-parkinsonism-dementia complex |
| TUSC3 | Mental retardation |
| TYMP | Mitochondrial DNA depletion syndrome |
| UCP2 | Hyperinsulinism |
| UROD | Porphyria cutanea tarda, Porphyria, hepatoerythropoietic |
| UROS | Porphyria, congenital erythropoietic |
| WFS1 | Wolfram syndrome |
| ZMPSTE24 | Mandibuloacral dysplasia with B lipodystrophy, Restrictive dermopathy, lethal |
ABCD4 | Methylmalonic aciduria and homocystinuria |
ACAT1 | Alpha-methylacetoacetic aciduria |
ACSF3 | Combined malonic and methylmalonic aciduria |
BCKDHA | Maple syrup urine disease |
BCKDHB | Maple syrup urine disease |
CBS | Homocystinuria due to cystathionine beta-synthase deficiency |
CD320 | Methylmalonic aciduria due to transcobalamin receptor defect |
DBT | Maple syrup urine disease |
DLD | Dihydrolipoyl dehydrogenase deficiency |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
GCDH | Glutaric aciduria |
GIF | Intrinsic factor deficiency |
HCFC1 | Combined methylmalonic acidemia and hyperhomocysteinemia |
HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
IVD | Isovaleric acidemia |
LMBRD1 | Methylmalonic aciduria and homocystinuria |
MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
MCEE | Methylmalonyl-CoA epimerase deficiency |
MMAA | Methylmalonic acidemia |
MMAB | Methylmalonic acidemia |
MMACHC | Methylmalonic aciduria and homocystinuria |
MMADHC | Methylmalonic aciduria and homocystinuria |
MTHFR | Homocystinuria due to MTHFR deficiency |
MTR | Methylmalonic acidemia |
MTRR | Homocystinuria-megaloblastic anemia, cobalamin E |
MUT | Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency |
PCCA | Propionic acidemia |
PCCB | Propionic acidemia |
TCN2 | Transcobalamin II deficiency |
SLC3A1 | Cystinuria |
SLC7A9 | Cystinuria |
ALG1 | Congenital disorder of glycosylation |
ALG2 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
ALG3 | Congenital disorder of glycosylation |
ALG6 | Congenital disorder of glycosylation |
ALG8 | Congenital disorder of glycosylation |
ALG9 | Congenital disorder of glycosylation |
ALG11 | Congenital disorder of glycosylation |
ALG12 | Congenital disorder of glycosylation |
ALG13 | Congenital disorder of glycosylation |
ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
B3GLCT | Peters-plus syndrome |
B4GALT1 | Congenital disorder of glycosylation |
COG1 | Congenital disorder of glycosylation |
COG4 | Congenital disorder of glycosylation |
COG5 | Congenital disorder of glycosylation |
COG6 | Congenital disorder of glycosylation |
COG7 | Congenital disorder of glycosylation |
COG8 | Congenital disorder of glycosylation |
DDOST | Congenital disorder of glycosylation |
DHDDS | Retinitis pigmentosa |
DOLK | Congenital disorder of glycosylation |
DPAGT1 | Congenital disorder of glycosylation, Myasthenic syndrome, congenital |
DPM1 | Congenital disorder of glycosylation |
DPM2 | Congenital disorder of glycosylation |
DPM3 | Congenital disorder of glycosylation |
GMPPA | Alacrima, achalasia, and mental retardation syndrome |
GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia |
MAN1B1 | Mental retardation |
MGAT2 | Congenital disorder of glycosylation |
MOGS | Congenital disorder of glycosylation |
MPDU1 | Congenital disorder of glycosylation |
MPI | Congenital disorder of glycosylation |
PGM1 | Congenital disorder of glycosylation |
PMM2 | Congenital disorder of glycosylation |
RFT1 | Congenital disorder of glycosylation |
RPN2 | Congenital disorder of glycosylation |
SEC23B | Anemia, dyserythropoietic congenital |
SLC35A1 | Congenital disorder of glycosylation |
SLC35A2 | Congenital disorder of glycosylation |
SLC35C1 | Congenital disorder of glycosylation, Leukocyte adhesion deficiency |
SRD5A3 | Congenital disorder of glycosylation, Kahrizi syndrome |
SSR4 | Congenital disorder of glycosylation |
STT3A | Congenital disorder of glycosylation |
STT3B | Congenital disorder of glycosylation |
TMEM165 | Congenital disorder of glycosylation |
TUSC3 | Mental retardation |
ADCK3 | Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia |
ANO10 | Spinocerebellar ataxia |
APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
COQ2 | Coenzyme Q10 deficiency |
COQ6 | Coenzyme Q10 deficiency |
COQ9 | Coenzyme Q10 deficiency |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
PDSS1 | Coenzyme Q10 deficiency |
PDSS2 | Coenzyme Q10 deficiency |
AGL | Glycogen storage disease |
ALDOA | Glycogen storage disease |
ENO3 | Glycogen storage disease |
EPM2A | Epilepsy, progressive myoclonic |
FBP1 | Fructose-1,6-bisphosphatase deficiency |
G6PC | Glycogen storage disease |
GAA | Glycogen storage disease |
GBE1 | Glycogen storage disease |
GYG1 | Glycogen storage disease |
GYS1 | Glycogen storage disease |
GYS2 | Glycogen storage disease |
LAMP2 | Danon disease |
LDHA | Glycogen storage disease |
NHLRC1 | Epilepsy, progressive myoclonic |
PFKM | Glycogen storage disease |
PGAM2 | Glycogen storage disease |
PGK1 | Phosphoglycerate kinase 1 deficiency |
PGM1 | Congenital disorder of glycosylation |
PHKA1 | Glycogen storage disease |
PHKA2 | Glycogen storage disease |
PHKB | Glycogen storage disease |
PHKG2 | Glycogen storage disease |
PRKAG2 | Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome |
PRKAG3 | Increased glyogen content in skeletal muscle |
PYGL | Glycogen storage disease |
PYGM | Glycogen storage disease |
RBCK1 | Polyglucosan body myopathy |
SLC2A2 | Fanconi-Bickel syndrome, Glycogen storage disease, Neonatal diabetes mellitus |
SLC37A4 | Glycogen storage disease |
ABCC8 | Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced |
ACY1 | Aminoacylase 1 deficiency |
ADAMTSL2 | Geleophysic dysplasia |
ADSL | Adenylosuccinase deficiency |
AGA | Aspartylglucosaminuria |
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
ALDH7A1 | Epilepsy, pyridoxine-dependent |
AMT | Glycine encephalopathy |
ANTXR2 | Fibromatosis, juveline hyaline, Hyalinosis, infantile systemic |
ARG1 | Hyperargininemia |
ARSA | Metachromatic leukodystrophy |
ARSB | Mucopolysaccharidosis (Maroteaux-Lamy) |
ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy |
ASPA | Aspartoacylase deficiency (Canavan disease) |
ATP13A2 | Parkinson disease (Kufor-Rakeb syndrome) |
BTD | Biotinidase deficiency |
CLN3 | Ceroid lipofuscinosis, neuronal |
CLN5 | Ceroid lipofuscinosis, neuronal |
CLN6 | Ceroid lipofuscinosis, neuronal |
CLN8 | Ceroid lipofuscinosis, neuronal |
COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
COL11A2 | Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome |
CTNS | Cystinosis |
CTSA | Galactosialidosis |
CTSC | Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile |
CTSD | Ceroid lipofuscinosis, neuronal |
CTSK | Pycnodysostosis |
DHCR7 | Smith-Lemli-Opitz syndrome |
DPYD | 5-fluorouracil toxicity |
DYM | Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
FH | Hereditary leiomyomatosis and renal cell cancer |
FOLR1 | Cerebral folate deficiency |
FUCA1 | Fucosidosis |
GAA | Glycogen storage disease |
GALC | Krabbe disease |
GALNS | Mucopolysaccharidosis (Morquio syndrome) |
GAMT | Guanidinoacetate methyltransferase deficiency |
GBA | Gaucher disease |
GCDH | Glutaric aciduria |
GLA | Fabry disease |
GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) |
GLDC | Glycine encephalopathy |
GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
GNPTAB | Mucolipidosis |
GNPTG | Mucolipidosis |
GNS | Mucopolysaccharidosis (Sanfilippo syndrome) |
GPC3 | Simpson-Golabi-Behmel syndrome |
GUSB | Mucopolysaccharidosis |
HEXA | GM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease |
HEXB | Sandhoff disease |
HGSNAT | Mucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosa |
HPD | Hawksinuria, Tyrosinemia |
HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
HYAL1 | Mucopolysaccharidosis |
IDS | Mucopolysaccharidosis |
IDUA | Mucopolysaccharidosis |
L2HGDH | L-2-hydroxyglutaric aciduria |
LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
LIPA | Cholesterol ester storage disease, Wolman disease |
MAN1B1 | Mental retardation |
MANBA | Mannosidosis, lysosomal |
MCOLN1 | Mucolipidosis |
MFSD8 | Ceroid lipofuscinosis, neuronal |
MOCS1 | Molybdenum cofactor deficiency |
MOCS2 | Molybdenum cofactor deficiency |
MYOT | Myopathy, myofibrillar |
NAGLU | Mucopolysaccharidosis (Sanfilippo syndrome) |
NEU1 | Sialidosis |
NPC1 | Niemann-Pick disease |
NPC2 | Niemann-pick disease |
PEX1 | Heimler syndrome |
PEX3 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX5 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome |
PEX6 | Heimler syndrome |
PEX10 | Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome |
PEX12 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX13 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
PEX16 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX26 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
PGK1 | Phosphoglycerate kinase 1 deficiency |
PHYH | Refsum disease |
PPT1 | Ceroid lipofuscinosis, neuronal |
PRODH | Hyperprolinemia |
PSAP | Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency |
QDPR | Hyperphenylalaninemia, BH4-deficient |
RAI1 | Smith-Magenis syndrome |
SGSH | Mucopolysaccharidosis (Sanfilippo syndrome) |
SLC17A5 | Infantile sialic acid storage disorder, Sialuria, Finnish (Salla disease) |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC46A1 | Folate malabsorption |
SMPD1 | Niemann-Pick disease |
SUMF1 | Multiple sulfatase deficiency |
SUOX | Sulfocysteinuria |
TCF4 | Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome |
TPP1 | Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia |
ABCD1 | Adrenoleukodystrophy |
ACOX1 | Peroxisomal acyl-CoA oxidase deficiency |
AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect |
GNPAT | Rhizomelic chondrodysplasia punctata, rhizomelic |
HSD17B4 | Perrault syndrome |
PEX1 | Heimler syndrome |
PEX2 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX3 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX5 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome |
PEX6 | Heimler syndrome |
PEX7 | Refsum disease, Rhizomelic CDP type 1 |
PEX10 | Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome |
PEX11B | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX12 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX13 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
PEX16 | Peroxisome biogenesis disorder, Zellweger syndrome |
PEX26 | Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome |
PHYH | Refsum disease |
ACAA1 | Pseudo-Zellweger syndrome |
ACAD9 | Acyl-CoA dehydrogenase family, deficiency |
ACADL | Long chain acyl-CoA dehydrogenase deficiency |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency |
ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency |
ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency |
CPT1A | Carnitine palmitoyltransferase deficiency |
CPT2 | Carnitine palmitoyltransferase II deficiency |
ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
GLUD1 | Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia |
HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency |
HADHA | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency |
HADHB | Trifunctional protein deficiency |
HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency |
HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic |
LPIN1 | Myoglobinuria, acute, recurrent |
PPARG | Insulin resistance, Lipodystrophy, familial, partial |
SLC22A5 | Carnitine deficiency, systemic primary |
SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
TAZ | 3-Methylglutaconic aciduria, (Barth syndrome) |
HAMP | Hemochromatosis |
HFE | Hemochromatosis |
HFE2 | Hemochromatosis |
SLC40A1 | Hemochromatosis |
TFR2 | Hemochromatosis |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency |
ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency |
ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
ARG1 | Hyperargininemia |
ASL | Argininosuccinic aciduria |
ASS1 | Citrullinemia |
BCKDHA | Maple syrup urine disease |
BCKDHB | Maple syrup urine disease |
CPS1 | Carbamoylphosphate synthetase I deficiency |
CPT1A | Carnitine palmitoyltransferase deficiency |
CPT2 | Carnitine palmitoyltransferase II deficiency |
DBT | Maple syrup urine disease |
DLD | Dihydrolipoyl dehydrogenase deficiency |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
GLUD1 | Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia |
HADHA | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency |
HADHB | Trifunctional protein deficiency |
HCFC1 | Combined methylmalonic acidemia and hyperhomocysteinemia |
HLCS | Holocarboxylase synthetase deficiency |
HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency |
IVD | Isovaleric acidemia |
MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
MMAA | Methylmalonic acidemia |
MMAB | Methylmalonic acidemia |
MMACHC | Methylmalonic aciduria and homocystinuria |
MMADHC | Methylmalonic aciduria and homocystinuria |
MUT | Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency |
NAGS | N-acetylglutamate synthase deficiency |
OAT | Gyrate atrophy of choroid and retina |
OTC | Ornithine transcarbamylase deficiency |
PC | Pyruvate carboxylase deficiency |
PCCA | Propionic acidemia |
PCCB | Propionic acidemia |
SLC7A7 | Lysinuric protein intolerance |
SLC22A5 | Carnitine deficiency, systemic primary |
SLC25A13 | Citrin deficiency |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
SUCLA2 | Mitochondrial DNA depletion syndrome |
SUCLG1 | Mitochondrial DNA depletion syndrome |
TMEM70 | Mitochondrial complex V (ATP synthase) deficiency |
GCH1 | Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
PAH | Hyperphenylalaninemia, non-PKU mild, Phenylketonuria |
PCBD1 | Hyperphenylalaninemia, BH4-deficient |
PTS | Hyperphenylalaninemia, BH4-deficient |
QDPR | Hyperphenylalaninemia, BH4-deficient |
ABCC8 | Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced |
ACAT1 | Alpha-methylacetoacetic aciduria |
FBP1 | Fructose-1,6-bisphosphatase deficiency |
GCK | Diabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial |
GLUD1 | Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia |
HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency |
HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency |
HNF1A | Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell |
HNF4A | Congenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young |
INSR | Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome |
KCNJ11 | Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia |
OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency |
PCK1 | Phosphoenolpyruvate carboxykinase 1 deficiency |
PCK2 | Phosphoenolpyruvate carboxykinase 2 deficiency |
PDX1 | Neonatal diabetes mellitus, Pancreatic agenesis |
SLC16A1 | Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency |
UCP2 | Hyperinsulinism |
CLDN16 | Hypomagnesemia, renal |
CLDN19 | Hypomagnesemia, renal |
CNNM1 | Hypomagnesemia |
CNNM2 | Hypomagnesemia, renal |
CNNM4 | Jalili syndrome |
EGF | Hypomagnesemia, renal |
FXYD2 | Hypomagnesemia, renal |
HNF1B | Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome |
KCNA1 | Episodic ataxia/myokymia syndrome |
MAGT1 | Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia |
MMGT1 | Hypomagnesemia |
NIPA2 | Hypomagnesemia |
SLC12A3 | Gitelman syndrome |
SLC41A2 | Hypomagnesemia |
SLC41A3 | Hypomagnesemia |
TRPM6 | Hypomagnesemia, intestinal |
TRPM7 | Amyotrophic lateral sclerosis-parkinsonism-dementia complex |
AGPAT2 | Lipodystrophy, congenital generalized |
AKT2 | Hypoinsulinemic hypoglycemia with hemihypertrophy |
BSCL2 | Encephalopathy, progressive, Lipodystrophy, congenital generalized |
CAV1 | Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
PLIN1 | Lipodystrophy, familial partial |
PPARG | Insulin resistance, Lipodystrophy, familial, partial |
PTRF | Lipodystrophy, congenital generalized |
TBC1D4 | Diabetes mellitus, noninsulin-dependent |
ZMPSTE24 | Mandibuloacral dysplasia with B lipodystrophy, Restrictive dermopathy, lethal |
ACAD9 | Acyl-CoA dehydrogenase family, deficiency |
ACADL | Long chain acyl-CoA dehydrogenase deficiency |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency |
ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
AGL | Glycogen storage disease |
ALDOA | Glycogen storage disease |
C10ORF2 | Mitochondrial DNA depletion syndrome, Perrault syndrome |
CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
CPT1B | Carnitine palmitoyltransferase deficiency |
CPT2 | Carnitine palmitoyltransferase II deficiency |
ENO3 | Glycogen storage disease |
ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
GAA | Glycogen storage disease |
GBE1 | Glycogen storage disease |
GYG1 | Glycogen storage disease |
GYS1 | Glycogen storage disease |
HADHA | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency |
HADHB | Trifunctional protein deficiency |
ISCU | Myopathy with lactic acidosis |
LDHA | Glycogen storage disease |
LPIN1 | Myoglobinuria, acute, recurrent |
OPA1 | Glaucoma, normal tension |
OPA3 | 3-methylglutaconic aciduria, Optic atrophy |
PFKM | Glycogen storage disease |
PGAM2 | Glycogen storage disease |
PGK1 | Phosphoglycerate kinase 1 deficiency |
PGM1 | Congenital disorder of glycosylation |
PHKA1 | Glycogen storage disease |
PHKG1 | Glycogen storage disease due to muscle phosphorylase kinase deficiency |
POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
PYGM | Glycogen storage disease |
RBCK1 | Polyglucosan body myopathy |
RRM2B | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
RYR1 | Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy |
SLC22A5 | Carnitine deficiency, systemic primary |
SUCLA2 | Mitochondrial DNA depletion syndrome |
TK2 | Mitochondrial DNA depletion syndrome |
TYMP | Mitochondrial DNA depletion syndrome |
ALMS1 | Alström syndrome |
ARL6 | Bardet-Biedl syndrome, Retinitis pigmentosa |
BBS1 | Bardet-Biedl syndrome |
BBS2 | Bardet-Biedl syndrome, Retinitis pigmentosa |
BBS4 | Bardet-Biedl syndrome |
BBS5 | Bardet-Biedl syndrome |
BBS7 | Bardet-Biedl syndrome |
BBS9 | Bardet-Biedl syndrome |
BBS10 | Bardet-Biedl syndrome |
BBS12 | Bardet-Biedl syndrome |
CEP290 | Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome |
CRTC1 | Mucoepidermoid salivary gland carcinoma |
CUL4B | Mental retardation, syndromic, Cabezas |
DYRK1B | Abdominal obesity-metabolic syndrome |
GNAS | Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism |
LEP | Leptin deficiency |
LEPR | Leptin receptor deficiency |
MAGEL2 | Schaaf-Yang syndrome (Prader-Willi-like syndrome) |
MC3R | Obesity due to MC3R deficiency |
MC4R | Obesity |
MKKS | Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
MKS1 | Bardet-Biedl syndrome, Meckel syndrome |
NR0B2 | Obesity, mild, early-onset |
NTRK2 | Obesity, hyperphagia, and developmental delay |
PCSK1 | Proprotein convertase 1/3 deficiency |
PHF6 | Borjeson-Forssman-Lehmann syndrome |
POMC | Proopiomelanocortin deficiency |
PPARG | Insulin resistance, Lipodystrophy, familial, partial |
PYY | Obesity |
SDCCAG8 | Bardet-Biedl syndrome, Senior-Loken syndrome |
SIM1 | 6q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndrome |
TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
TTC8 | Bardet-Biedl syndrome, Retinitis pigmentosa |
UCP3 | Obesity, severe, and type II diabetes |
VPS13B | Cohen syndrome |
WDPCP | Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier |
CACNA1S | Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis |
CLCN1 | Myotonia congenita, Myotonia congenita, Myotonia levior |
KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
SCN4A | Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita |
ALAD | Porphyria, acute hepatic |
ALAS2 | Anemia, sideroblastic, Protoporphyria, erythropoietic |
CPOX | Coproporphyria, Harderoporphyria |
FECH | Protoporphyria, erythropoietic |
HFE | Hemochromatosis |
HMBS | Hydroxymethylbilane synthase deficiency, Porphyria, acute intermittent |
PPOX | Porphyria variegata |
UROD | Porphyria cutanea tarda, Porphyria, hepatoerythropoietic |
UROS | Porphyria, congenital erythropoietic |
ADAR | Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria |
IFIH1 | Singleton-Merten syndrome |
RNASEH2A | Aicardi-Goutières syndrome |
RNASEH2B | Aicardi-Goutières syndrome |
RNASEH2C | Aicardi-Goutières syndrome |
SAMHD1 | Aicardi-Goutières syndrome |
TREX1 | Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy |
CKMT1A |
|
CKMT1B |
|
CKMT2 |
|
GAMT | Guanidinoacetate methyltransferase deficiency |
GATM | Arginine:glycine amidinotransferase deficiency |
SLC6A8 | Creatine deficiency syndrome |
AGK | Sengers syndrome |
APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
AUH | 3-methylglutaconic aciduria |
C10ORF2 | Mitochondrial DNA depletion syndrome, Perrault syndrome |
C12ORF65 | Combined oxidative phosphorylation deficiency, Spastic paraplegia |
DGUOK | Mitochondrial DNA depletion syndrome |
FBXL4 | Mitochondrial DNA depletion syndrome |
MFN2 | Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy |
MPV17 | Mitochondrial DNA depletion syndrome |
NDUFS1 | Mitochondrial complex I deficiency |
OPA1 | Glaucoma, normal tension |
OPA3 | 3-methylglutaconic aciduria, Optic atrophy |
POLG | Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis |
POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions |
RRM2B | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
SLC25A3 | Micochondrial phosphate carrier deficiency |
SLC25A4 | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
SPG7 | Spastic paraplegia |
SUCLA2 | Mitochondrial DNA depletion syndrome |
SUCLG1 | Mitochondrial DNA depletion syndrome |
TIMM8A | Jensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia |
TK2 | Mitochondrial DNA depletion syndrome |
TMEM126A | Optic atrophy |
TYMP | Mitochondrial DNA depletion syndrome |
WFS1 | Wolfram syndrome |
EXOMA.
MICROARRAYS.
ESTUDIOS DISPONIBLES:
- Canavan
- Enfermedad de Gaucher
- Enfermedad de Tay Sachs
- Galactosemia
- Melas
