|
| Gene symbol | Defective enzyme name | Disease |
|
| | (a) Congenital Disorder of Glycosylation (CDG) (23 genes) | |
|
| ALG1 | N-linked glycosylation 1, beta-1,4-mannosyltransferase homolog | CDG |
| ALG2 | N-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog | CDG |
| ALG3 | N-linked glycosylation 3, alpha-1,3-mannosyltransferase homolog | CDG |
| ALG6 | N-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog | CDG |
| ALG8 | N-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog | CDG |
| ALG9 | N-linked glycosylation 9, alpha-1,3-glucosyltransferase homolog | CDG |
| ALG12 | N-linked glycosylation 12, alpha-1,3-glucosyltransferase homolog | CDG |
| B4GALT1 | UDP-Gal: betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 1 | CDG |
| COG1 | Component of oligomeric golgi complex 1 | CDG |
| COG7 | Component of oligomeric golgi complex 7 | CDG |
| COG8 | Component of oligomeric golgi complex 8 | CDG |
| DOLK | Dolichol kinase | CDG |
| DPAGT1 | Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetyl
glucosamine phosphotransferase 1 (GlcNAc-1-P transferase) | CDG |
| DPM1 | Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | CDG |
| DPM3 | Dolichyl-phosphate mannosyltransferase polypeptide 3 | CDG |
| MOGS | Mannosyl-oligosaccharide glucosidase | CDG |
| MGAT2 | Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase | CDG |
| MPDU1 | Mannose-P-dolichol utilization defect 1 | CDG |
| MPI | Mannose phosphate isomerase | CDG |
| PMM2 | Phosphomannomutase 2 | CDG |
| RFT1 | Requiring fifty three 1 homolog | CDG |
| SLC35A1 | Solute carrier family 35 (CMP-sialic acid transporter), member A1 | CDG |
| SLC35C1 | Solute carrier family 35, member C1 | CDG |
|
| | (b) Neuronal ceroid lipofuscinosis (NCL) (8 genes) | |
|
| CLN3 | Ceroid-lipofuscinosis, neuronal 3 | NLC |
| CLN5 | Ceroid-lipofuscinosis, neuronal 5 | NLC |
| CLN6 | Ceroid-lipofuscinosis, neuronal 6 | NLC |
| CLN8 | Ceroid-lipofuscinosis, neuronal 8 | NLC |
| CTSD | Cathepsin D | NLC |
| MFSD8 | Major facilitator superfamily domain containing 8 | NLC |
| PPT1 | Palmitoyl-protein thioesterase 1 | NLC |
| TPP1 | Tripeptidyl peptidase I | NLC |
|
| | (c) Defects of mitochondrial metabolism including coenzyme Q deficiency (35 genes) | |
|
| APTX | Aprataxin | Coenzyme Q10 Deficiency |
| ATPAF2 | ATP synthase mitochondrial F1 complex assembly factor 2 | ATPase deficiency |
| BCS1L | BCS1-like | Leigh syndrome |
| C12ORF65 | Chromosome 12 open reading frame 65 | Leigh syndrome |
| C8ORF38 | Chromosome 8 open reading frame 38 | Leigh syndrome |
| CABC1 | Chaperone activity of bc1 complex-like, mitochondria | Coenzyme Q10 deficiency |
| COQ2 | Coenzyme Q2 homolog, prenyltransferase (yeast) | Coenzyme Q10 deficiency |
| COQ9 | Coenzyme Q9 homolog (S. cerevisiae) | Coenzyme Q10 deficiency |
| COX10 | COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) | Leigh syndromeCOX10 |
| COX15 | COX15 homolog, cytochrome c oxidase assembly protein (yeast) | Leigh syndrome |
| DLD | Dihydrolipoamide dehydrogenase | Leigh syndrome |
| GCSH | Glycine cleavage system protein H (aminomethyl carrier) | Glycine encephalopathy |
| GCST | Aminomethyltransferase (glycine cleavage system protein T) | Glycine encephalopathy |
| GLDC | Glycine dehydrogenase (decarboxylating) | Glycine encephalopathy |
| HSD17B10 | Hydroxysteroid (17-beta) dehydrogenase 10 | HSD17B10 deficiency |
| LRPPRC | Leucine-rich PPR-motif containing | Leigh syndrome |
| NDUFA2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2,8 kDa | Leigh syndrome |
| NDUFS1 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75 kDa | Leigh syndrome |
| NDUFS3 | NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30 kDa | Leigh syndrome |
| NDUFS4 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa | Leigh syndrome |
| NDUFS7 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20 kDa | Leigh syndrome |
| NDUFS8 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23 kDa | Leigh syndrome |
| NDUFV1 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51 kDa | Leigh syndrome |
| PC | Pyruvate carboxylase | Leigh syndrome |
| PDHA1 | Pyruvate dehydrogenase (lipoamide) alpha 1 | Leigh syndrome |
| PDSS1 | Prenyl (decaprenyl) diphosphate synthase, subunit 1 | Coenzyme Q10 deficiency |
| PDSS2 | Prenyl (decaprenyl) diphosphate synthase, subunit 2 | Coenzyme Q10 deficiency] |
| POLG | Polymerase (DNA directed), gamma | Mitochondrial DNA depletion Syndrome |
| RARS2 | Arginyl-tRNA synthetase 2, mitochondrial | Pontocerebellar hypoplasia |
| SCO2 | SCO cytochrome oxidase deficient homolog 2 (yeast) | Leigh syndrome |
| SDHA | Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Leigh syndrome |
| SURF1 | Surfeit 1 | Leigh syndrome |
| TACO1 | Translational activator of mitochondrially encoded cytochrome c oxidase I | Leigh syndrome |
| TMEM70 | Transmembrane protein 70 | Encephalocardiomyopathy |
| VDAC1 | voltage-dependent anion channel 1 | VDAC deficiency |
|
| | (d) Mucopolysaccharidosis (MPS) and mucolipidosis (MLP) (15 genes) | |
|
| ARSB | Arylsulfatase B | MPS 6 (Maroteaux-Lamy syndrome) |
| GALNS | Galactosamine (N-acetyl)-6-sulfate sulfatase | MPS 4A (Morquio syndrome) |
| GLB1 | Galactosidase, beta 1 | GM1-gangliosidosis |
| GNPTAB | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | Mucolipidosi 2 (I cell disease) and 3A |
| GNPTG | N-acetylglucosamine-1-phosphate transferase, gamma subunit | Mucolipidosi 3C |
| GNS | Glucosamine (N-acetyl)-6-sulfatase | MPS 3D (Sanfilippo D syndrome) |
| GUSB | Glucuronidase, beta | MPS 7 (Sly syndrome) |
| HGSNAT | Heparan-alpha-glucosaminide N-acetyltransferase | MPS 3C (Sanfilippo C syndrome) |
| HYAL1 | Hyaluronoglucosaminidase 1 | MPS 9 |
| IDS | Iduronate 2-sulfatase | MPS 2 (Hunter syndrome) |
| IDUA | Iduronidase, alpha-L- | MPS 1H (Hurler syndrome) |
| MCOLN1 | Nucolipin 1 | Mucolipidosi 4 |
| NAGLU | N-acetylglucosaminidase, alpha | MPS 3B (Sanfilippo B syndrome) |
| SGSH | N-sulfoglucosamine sulfohydrolase | MPS 3A (Sanfilippo A syndrome) |
| SUMF1 | Sulfatase modifying factor 1 | Multiple sulfatase deficiency |
|
| (e) Peroxisome biogenesis disorders (PBD) (9 genes): Zellweger syndrome (ZWS): neonatal adrenoleukodystrophy (NALD): infantile refsum disease (IRD): rhizomelic chondrodysplasia punctata type 1 (RCDP1) |
|
| PEX1 | Peroxisomal biogenesis factor 1 | ZWS-NADL-IRD |
| PEX2 | Peroxisomal biogenesis factor 2 | ZWS-IRD |
| PEX3 | Peroxisomal biogenesis factor 3 | ZWS |
| PEX5 | Peroxisomal biogenesis factor 5 | ZWS-NADL |
| PEX6 | Peroxisomal biogenesis factor 6 | ZWS |
| PEX7 | Peroxisomal biogenesis factor 7 | RCDP1 |
| PEX12 | Peroxisomal biogenesis factor 12 | ZWS |
| PEX14 | Peroxisomal biogenesis factor 14 | ZWS |
| PEX26 | Peroxisomal biogenesis factor 26 | ZWS-NADL-IRD |
|
