| Acyl-CoA oxidase deficiency |
ACOX1 |
264470 |
| Acyl-CoA synthetase family, member 3 deficiency |
ACSF3 |
614265 |
| Adenine phosphoribosyl transferase deficiency |
APRT |
102600 |
| Adenosine deaminase 2 deficiency |
ADA2 |
607575 |
| Adenosine deaminasadae deficiency |
ADA |
102700 |
| Adenosine kinase deficiency |
ADK |
614300 |
| Adenylosuccinate lyase deficiency |
ADSL |
103050 |
| Alanyl-tRNA synthetase 1 |
AARS1 |
601065 |
| Alanyl-tRNA synthetase 2 |
AARS2 |
612035 |
| Alexander disease |
GFAP |
203450 |
| Alkaline phospatase, liver deficiency |
ALPL |
146300, 241500, 241510 |
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 1 |
AIMP1 |
603605 |
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 2 |
AIMP2 |
600859 |
| Arginine:glycine amidinotransferase (AGAT) deficiency |
GATM |
612718 |
| Argininosuccinate lyase deficiency |
ASL |
207900 |
| Arginyl-tRNA synthetase 1 |
RARS1 |
107820 |
| Arginyl-tRNA synthetase 2 |
RARS2 |
611524 |
| Aromatic amino acid decarboxylase deficiency |
DDC |
608643 |
| Arylsulfatase A deficiency |
ARSA |
250100 |
| Asparaginyl-tRNA synthetase 1 |
NARS1 |
108410 |
| Asparaginyl-tRNA synthetase 2 |
NARS2 |
612803 |
| Aspartyl-tRNA synthetase 2 deficiency / Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation "LBSL |
DARS2 |
611105 |
| Aspartyl-tRNA synthetase 1 deficiency / Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" |
DARS1 |
615281 |
| B-Cell receptor associated protein 31 deficiency |
BCAP31 |
300398 |
| BolA family member 3 deficiency |
BOLA3 |
614299 |
| Brown-Vialetto-Van Laere syndrome, type 1 |
SLC52A3 |
211530 |
| Brown-Vialetto-Van Laere syndrome, type 2 |
SLC52A2 |
614707 |
| Brown-Vialetto-Van Laere syndrome, type 3 |
SLC52A1 |
607883 |
| Canavan disease |
ASPA |
271900 |
| Carbamylphosphate synthase 1 deficiency |
CPS1 |
237300 |
| Carbonic anhydrase VA deficiency |
CA5A |
|
| Carnitine deficiency, primary/ OCTN2 |
SLC22A5 |
212140 |
| Carnitine palmitoyltransferase 1 deficiency |
CPT1A |
255120 |
| Carnitine palmitoyltransferase 2 deficiency |
CPT2 |
600649 |
| Carnitine-acylcarnitine translocase (CACT) deficiency |
SLC25A20 |
212138 |
| Ceruloplasmine deficiency/ Ferroxidase |
CP |
604290 |
| CHILD syndrome |
NSDHL |
308050 |
| Chitotriosidase deficiency c.1049_1072dup |
CHIT1 |
614122 |
| Citrullinemia, type 1 |
ASS1 |
215700 |
| Citrullinemia, type 2 |
SLC25A13 |
603471 |
| Collectrin/ Transmembrane protein 27 |
TMEM27 |
|
| Complementation analysis (PEX gene unknown; skin fibroblasts required) |
|
214100 |
| Congenital disorder of glycosylation,CDG type IIh |
COG8 |
611182 |
| Conradi-Hünermann-Happle syndrome/CDPX2 |
EBP |
302960 |
| Creatine transporter defect, X-linked |
SLC6A8 |
300352 |
| Cystathionine beta-synthase deficiency |
CBS |
236200 |
| Cysteinyl-tRNA synthetase 1 |
CARS1 |
123859 |
| Cysteinyl-tRNA synthetase 2 |
CARS2 |
612800 |
| Cytosolic iron-sulfur assembly component |
CIAO1 |
604333 |
| D-Bifunctional protein (DBP) deficiency |
HSD17B4 |
261515 |
| Dentin matrix acidic phosphoprotein 1 deficiency |
DMP1 |
600980 |
| Desmosterolosis |
DHCR24 |
602398 |
| Dihydrofolate reductase deficiency |
DHFR |
613839 |
| Dihydrolipoamide dehydrogenase deficiency/ MSUD type III |
DLD |
246900 |
| Dihydropyrimidinase deficiency |
DPYS |
222748 |
| Dihydropyrimidine dehydrogenase deficiency |
DPYD |
274270 |
| D-tyrosyl-tRNA deacylase |
DTD1 |
610996 |
| Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency |
ENPP1 |
173335 |
| Ethylmalonic aciduria (Ethylmalonic encephalopathy) |
ETHE1 |
602473 |
| Eukaryotic translation elongation factor epsilon |
EEF1E1 |
609206 |
| Flavin adenine dinucleotide synthetase (FADS) deficiency |
FLAD1 |
255100 |
| Folate malabsorption, hereditary |
SLC46A1 |
229050 |
| Folate transport deficiency |
FOLR1 |
613068 |
| Fructokinase/ Ketohexokinase deficiency |
KHK |
229800 |
| Fructose intolerance, hereditary |
ALDOB |
229600 |
| Fructose-1,6-biphosphatase-1 deficiency |
FBP1 |
229700 |
| GABA-transaminase (GABA-T) deficiency |
ABAT |
613163 |
| Galactokinase deficiency |
GALK1 |
230200 |
| Galactosemia |
GALT |
230400 |
| Galactosemia type 4 |
GALM |
618881 |
| Galactosialidosis |
CTSA |
256540 |
| Galactosyltransferase 1/ Congenital disorder of glycosylation, type II d |
B4GALT1 |
607091 |
| Gastric intrinsic factor deficiency |
GIF |
261000 |
| Glucose transporter 1 (GLUT1) deficiency |
SLC2A1 |
606777 |
| Glucose-6-phosphate dehydrogenase deficiency |
G6PD |
300908 |
| Glutaric aciduria type 1 |
GCDH |
231670 |
| Glutamate dehydrogenase-1 deficiency |
GLUD1 |
606762 |
| Glutaminase deficiency |
GLS |
138280 |
| Glutaminyl-tRNA synthetase 1 |
QARS1 |
603727 |
| Glutamyl-Prolyl-tRNA synthetase 1 |
EPRS1 |
138295 |
| Glutamyl-t-RNA synthetase 2 deficiency / Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" |
EARS2 |
612799 |
| Glutaredoxin 5 deficiency |
GLRX5 |
616859 |
| Glycine N-methyltransferase deficiency |
GNMT |
606664 |
| Glycine transporter 1 deficiency |
SLC6A9 |
617301 |
| Glycine transporter 2 deficiency |
SLC6A5 |
614618 |
| Glycogen storage disease type II/ Pompe disease |
GAA |
232300 |
| Glycogen storage disease type IV |
GBE1 |
232500 |
| Glycogen storage disease type VII (Tauri) |
PFKM |
232800 |
| Glycogen storage disease type 0 |
GYS2 |
240600 |
| Glycyl-tRNA synthetase 1 |
GARS1 |
600287 |
| GM1-gangliosidosis |
GLB1 |
230500 |
| Greenberg skeletal dysplasia |
LBR |
215140 |
| GTP cyclohydrolase I deficiency |
GCH1 |
233910 |
| Guanidinoacetate methyltransferase deficiency |
GAMT |
612736 |
| Hartnup disorder |
SLC6A19 |
234500 |
| Histidyl-tRNA synthetase 1 |
HARS1 |
142810 |
| Histidyl-tRNA synthetase 2 |
HARS2 |
600783 |
| HMG-CoA lyase deficiency/ 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency |
HMGCL |
246450 |
| Holocarboxylase synthetase deficiency |
HLCS |
253270 |
| D-2- and L-2-hydroxyglutaric aciduria/ Mitochondrial citrate transporter |
SLC25A1 |
615182 |
| D-2-hydroxyglutaric acidurie and metaphyseal chondromatosis |
IDH1 |
147700 |
| D-2-hydroxyglutaric aciduria, type 1 |
D2HGDH |
600721 |
| D-2-hydroxyglutaric aciduria, type 2 |
IDH2 |
613657 |
| L-2-hydroxyglutaric aciduria |
L2HGDH |
236792 |
| 3-Hydroxyisobutyrate dehydrogenase deficiency |
HIBADH |
608475 |
| 3-Hydroxyisobutyryl-CoA hydrolase deficiency |
HIBCH |
250620 |
| Hyper IgD syndrome/ Mevalon aciduria/ Mevalonic kinase deficiency |
MVK |
260920 |
| Hypercarotenemia and vitamin A deficiency |
BCO1 |
115300 |
| Hyperfenylalaninemia, BH4-deficient, A |
PTS |
261640 |
| Hyperphenylalaninemia, BH4-deficient, C / Dihydropteridine reductase deficiency |
QDPR |
261630 |
| Hyperlysinemia |
AASS |
238700 |
| Hyperoxaluria and nephrolithiasis |
SLC26A6 |
610068 |
| Hyperoxaluria type 1 |
AGXT |
259900 |
| Hyperoxaluria type 2 |
GRHPR |
260000 |
| Hyperoxaluria type 3 |
HOGA1 |
613616 |
| Hyperphenylalaninemia, mild, non-BH4-deficient |
DNAJC12 |
617384 |
| Hypophosphatemic rickets, X-linked dominant |
PHEX |
307800 |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency |
HPRT1 |
300322 |
| Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia, Norwegian type |
AMN |
618882 |
| Inosine triphosphatase deficiency |
ITPA |
613850 |
| Isoleucyl-tRNA synthetase 1 |
IARS1 |
600709 |
| Isoleucyl-tRNA synthetase 2 |
IARS2 |
612801 |
| Isovaleryl-CoA dehydrogenase deficiency /Isovaleric acidemia |
IVD |
243500 |
| ß-Ketothiolase deficiency |
ACAT1 |
607809 |
| Krabbe disease |
GALC |
245200 |
| Lathosterolosis |
SC5DL |
607330 |
| Leucyl-tRNA synthetase 1 |
LARS1 |
151350 |
| Leucyl-tRNA synthetase 2 |
LARS2 |
604544 |
| LIPIN 3 |
LPIN3 |
|
| Lipoic Acid synthase deficiency |
LIAS |
614462 |
| Lysinuric protein intolerance |
SLC7A7 |
222700 |
| Lysosomal acid lipase deficiency |
LIPA |
278000 |
| Lysyl-tRNA synthetase 1 |
KARS1 |
601421 |
| Majeed syndrome |
LPIN2 |
609628 |
| Malonyl-CoA-decarboxylase deficiency |
MLYCD |
248360 |
| Mannosidase, beta A, lysosomal deficiency |
MANBA |
609489 |
| Mannosidosis, alpha-, type I and II |
MAN2B1 |
248500 |
| Maple syrup urine disease II |
DBT |
248600 |
| Maple syrup urine disease Ia |
BCKDHA |
248600 |
| Maple syrup urine disease Ib |
BCKDHB |
248600 |
| Methionine adenosyltransferase deficiency |
MAT1A |
250850 |
| Methionyl-tRNA synthetase 2 |
MARS2 |
609728 |
| α-methylacyl-CoA racemase deficiency |
AMACR |
604489 |
| 2-methylbutyryl glycinuria / 2-Methylbutyryl-CoA dehydrogenase deficiency |
ACADSB |
610006 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency |
MCCC1 |
210200 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency |
MCCC2 |
210210 |
| Methylenetetrahydrofolate dehydrogenase 1 deficiency |
MTHFD1 |
601643 |
| Methylenetetrahydrofolate reductase deficiency |
MTHFR |
236250 |
| 3-Methylglutacon aciduria type 3 / Optic atrophy 3 |
OPA3 |
258501 |
| 3-Methylglutaconyl-CoA hydratase deficiency / 3-methylglutacon aciduria type I |
AUH |
250950 |
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency |
HSD17B10 |
300438 |
| Methylmalonic aciduria and homocysteinemia, cblX type (X-linked) |
HCFC1 |
309541 |
| Methylmalonic aciduria and homocystinurie, cblC type |
MMACHC |
277400 |
| Methylmalonic aciduria and homocystinurie, cblD type |
MMADHC |
277410 |
| Methylmalonic aciduria and homocystinurie, cblF type |
LMBRD1 |
277380 |
| Methylmalonic aciduria and homocystinurie, cbIJ type |
ABCD4 |
614857 |
| Methylmalonic aciduria, vitamin B12 responsive, cblA type |
MMAA |
607481 |
| Methylmalonic aciduria, vitamin B12 responsive, cblB type |
MMAB |
607568 |
| Methylmalonic aciduria, vitamin B12 responsive, transcobalamin receptor defect |
TCbIR |
613646 |
| Methylmalonate semialdehyde dehydrogenase deficiency |
ALDH6A1 |
614105 |
| Methylmalonyl CoA mutase deficiency |
MMUT |
609058 |
| Methylmalonyl-CoA epimerase deficiency |
MCEE |
251120 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG |
MTR |
156570 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE |
MTRR |
602568 |
| Medium-chain acyl-CoA dehydrogenase deficiency |
ACADM |
201450 |
| Mitochondrial DNA depletion syndrome 2 |
SUCLA2 |
603921 |
| Mitochondrial trifunctional protein deficiency (includes LCHAD deficiency) |
HADHA |
609015 |
| Mitochondrial trifunctional protein deficiency |
HADHB |
609015 |
| Molybdenum cofactor deficiency, type A |
MOCS1 |
252150 |
| Molybdenum cofactor deficiency, type B |
MOCS2 |
252160 |
| Molybdenum cofactor deficiency, type C |
GPHN |
615501 |
| Monocarboxylate transporter 12 deficiency |
SLC16A12 |
611910 |
| Monocarboxylate transporter member 1 (MCT1) deficiency |
SLC16A1 |
600682 |
| Mucolipidosis type IV/ Mucolipin-1 deficiency |
MCOLN1 |
252650 |
| Mucopolysacharidose type III/ Sanfilippo type A |
SGSH |
252900 |
| Mucopolysaccharidosis type IIIB/ Sanfilippo type B |
NAGLU |
252920 |
| Multiple acyl-CoA dehydrogenase deficiency |
ETFA |
231680 |
| Multiple acyl-CoA dehydrogenase deficiency |
ETFB |
231680 |
| Multiple acyl-CoA dehydrogenase deficiency |
ETFDH |
231680 |
| Multiple mitochondrial dysfunctions syndrome 1 |
NFU1 |
605711 |
| N-acetylglutamate synthase deficiency |
NAGS |
237310 |
| Neuraminidase deficiency / Sialidosis |
NEU1 |
608272 |
| Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) /Spermatogenesis-associated protein 5 deficiency |
SPATA5 |
616577 |
| NKH Aminomethyltransferase deficiency |
AMT |
605899 |
| NKH Glycine cleavage system H-protein deficiency |
GCSH |
605899 |
| NKH Glycine decarboxylase deficiency |
GLDC |
605899 |
| Nucleotide-binding protein-like protein deficiency |
NUBPL |
613621 |
| Ornithine aminotransferase deficiency |
OAT |
258870 |
| Ornithine transcarbamylase deficiency |
OTC |
311250 |
| Phenylalanyl-tRNA synthetase 2 |
FARS2 |
611592 |
| Phenylalanyl-tRNA synthetase, alpha subunit |
FARSA |
602918 |
| Phenylalanyl-tRNA synthetase, beta subunit |
FARSB |
609690 |
| Phenylketonuria/hyperfenylalaninemia, non-PKU mild |
PAH |
261600 |
| Phosphatidylinositol 4-kinase deficiency |
PI4KA |
616531 |
| Phosphoglycerate dehydrogenase deficiency |
PHGDH |
601815 |
| Phosphoglycerate mutase deficiency, muscle |
PGAM2 |
261670 |
| Phosphoribosyl pyrophosphate synthetase superactivity and deficiency |
PRPS1 |
300661 |
| Phosphoserine aminotransferase deficiency |
PSAT1 |
610936 |
| Phosphoserine phosphatase deficiency |
PSPH |
614023 |
| Prolyl-tRNA synthetase 2 |
PARS2 |
612036 |
| Propionyl CoA carboxylase alpha subunit deficiency |
PCCA |
606054 |
| Propionyl CoA carboxylase beta subunit deficiency |
PCCB |
606054 |
| Purine nucleoside phosphorylase deficiency |
PNP |
164050 |
| Pyridoxal phosphate binding protein |
PLPBP |
617290 |
| Pyridoxamine 5'-phosphate oxidase deficiency |
PNPO |
610090 |
| Pyridoxine dependent epilepsy |
ALDH7A1 |
266100 |
| Refsum disease |
PEX7 |
614879 |
| Refsum disease |
PHYH/PAHX |
266500 |
| Rhabdomyolysis, acute recurrent |
LPIN1 |
268200 |
| Rhizomelic chondrodysplasia punctata type 1 |
PEX7 |
215100 |
| Rhizomelic chondrodysplasia punctata type 2 |
GNPAT |
222765 |
| Rhizomelic chondrodysplasia punctata type 3 |
AGPS |
600121 |
| Ribose 5-phosphate isomerase deficiency |
RPIA |
180430 |
| S-adenosylhomocysteine hydrolase (SAHH) deficiency |
AHCY |
613752 |
| Sedoheptulokinase deficiency |
SHPK |
617213 |
| Seryl-tRNA synthetase 1 |
SARS1 |
607529 |
| Seryl-tRNA synthetase 2 |
SARS2 |
612804 |
| Short-chain acyl-CoA dehydrogenase deficiency |
ACADS |
201470 |
| Short-chain enoyl-CoA hydratase/Crotonase deficiency |
ECHS1 |
602292 |
| Sjögren-Larsson syndrome |
ALDH3A2 |
270200 |
| Smith-Lemli-Opitz Syndrome |
DHCR7 |
270400 |
| Sodium phosphate cotransporter, member 3 deficiency |
SLC34A3 |
241530 |
| Sodium-dependent citrate transporter, member 5 deficiency |
SLC13A5 |
615905 |
| Spermine synthase deficiency/ Snyder-Robinson type |
SMS |
309583 |
| Succinate semialdehyde dehydrogenase (SSADH) deficiency |
ALDH5A1 |
271980 |
| Succinate-CoA ligase |
SUCLG1 |
611224 |
| Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency |
OXCT1 |
245050 |
| Sulfatase modifying factor 1 deficiency / Multiple sulfatase deficiency |
SUMF1 |
272200 |
| Sulfite oxidase deficiency |
SUOX |
272300 |
| Tay-Sachs disease |
HEXA |
272800 |
| Thiamine transporter deficiency |
SLC19A3 |
607483 |
| Threonyl-tRNA synthetase 1 |
TARS1 |
187790 |
| Threonyl-tRNA synthetase 2 |
TARS2 |
612805 |
| Threonyl-tRNA synthetase-like 2 |
TARSL2 |
|
| Thymidine phosphorylase deficiency |
TYMP |
603041 |
| Transaldolase deficiency |
TALDO1 |
606003 |
| Transketolase deficiency |
TKT |
606781 |
| Triosephosphate isomerase deficiency |
TPI1 |
190450 |
| Tryptophanyl-tRNA synthetase 1 |
WARS1 |
191050 |
| Tryptophanyl-tRNA synthetase 2 |
WARS2 |
604733 |
| Tyrosine hydroxylase deficiency |
TH |
191290 |
| Tyrosyl-tRNA synthetase 1 |
YARS1 |
603623 |
| Tyrosyl-tRNA synthetase 2 |
YARS2 |
610957 |
| ß-Ureidopropionase deficiency |
UPB1 |
606673 |
| Valyl-tRNA synthetase 1 |
VARS1 |
192150 |
| Valyl-tRNA synthetase 2 |
VARS2 |
612802 |
| Branched chain aminotransaminase 2 deficiency |
BCAT2 |
618850 |
| Very long-chain acyl-CoA dehydrogenase deficiency |
ACADVL |
201475 |
| X-linked adrenoleukodystrophy, X-ALD |
ABCD1 |
300100 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX1 |
602136 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX2 |
170993 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX3 |
603164 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX5 |
600414 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX6 |
601498 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX10 |
602859 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX11β |
603867 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX12 |
601758 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX13 |
601789 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX14 |
601791 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX16 |
603360 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX19 |
600279 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) |
PEX26 |
608666 |
| Zinc transporter deficiency/ Acrodermatitis enteropathica |
SLC39A4 |
201100 |
