RGDs registry under the 'Neurodegenerative disorders'
| Disorder Name (Total=50) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Canavan disease Autosomal recessive |
•Spongy degeneration of central nervous system •Aspartoacylase deficiency •ACY2 deficiency •ASP deficiency •Aminoacylase 2 deficiency •Canavan-van Bogaert-Bertrand disease •Von Bogaert-Bertrand disease |
Leukodystrophy |
ASPA aspartoacylase |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Ataxia-telangiectasia syndrome Autosomal recessive |
•Louis-Bar syndrome •Ataxia-telangiectasia •Ataxia-telangiectasia, complementation group D •Ataxia-telangiectasia, complementation group E •Cerebello-oculocutaneous telangiectasia •Immunodeficiency with ataxia telangiectasia |
Cerebellar disorder/Encephalomyelopathy |
ATM ATM serine/threonine kinase |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Multiple sclerosis |
Demyelinating disease of central nervous system |
NR1H3 nuclear receptor subfamily 1 group H member 3 |
Reports Updated as of Sep 15, 2022 |
PubMed | |
| Chorea-acanthocytosis Autosomal recessive |
•Levine-Critchley syndrome •Acanthocytosis with neurologic disorder •Choreaacanthocytosis •Choreoacanthocytosis •ChAc |
Peripheral neuropathy |
VPS13A vacuolar protein sorting 13 homolog A |
Reports Updated as of Sep 15, 2022 |
PubMed |
| Spastic ataxia Autosomal dominant, Autosomal recessive |
Hereditary ataxia |
MTPAP mitochondrial poly(A) polymerase AFG3L2 AFG3 like matrix AAA peptidase subunit 2 MARS2 methionyl-tRNA synthetase 2, mitochondrial KIF1C kinesin family member 1C VAMP1 vesicle associated membrane protein 1 NKX6-2 NK6 homeobox 2 CHP1 calcineurin like EF-hand protein 1 COQ4 coenzyme Q4 AMPD2 adenosine monophosphate deaminase 2 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 DARS2 aspartyl-tRNA synthetase 2, mitochondrial GJC2 gap junction protein gamma 2 PEX10 peroxisomal biogenesis factor 10 AHDC1 AT-hook DNA binding motif containing 1 PUM1 pumilio RNA binding family member 1 DAB1 DAB adaptor protein 1 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 SCN2A sodium voltage-gated channel alpha subunit 2 KIF1A kinesin family member 1A SYNE1 spectrin repeat containing nuclear envelope protein 1 ELOVL4 ELOVL fatty acid elongase 4 CYP7B1 cytochrome P450 family 7 subfamily B member 1 TMEM67 transmembrane protein 67 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SETX senataxin EXOSC8 exosome component 8 SYNE2 spectrin repeat containing nuclear envelope protein 2 GALC galactosylceramidase CCDC88C coiled-coil domain containing 88C CLN6 CLN6 transmembrane ER protein TUBB3 tubulin beta 3 class III CACNA1G calcium voltage-gated channel subunit alpha1 G MKS1 MKS transition zone complex subunit 1 DNMT1 DNA methyltransferase 1 C19orf12 chromosome 19 open reading frame 12 PNPLA6 patatin like phospholipase domain containing 6 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 FLNC filamin C HPDL 4-hydroxyphenylpyruvate dioxygenase like |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Cockayne syndrome Autosomal recessive |
- |
ERCC6 ERCC excision repair 6, chromatin remodeling factor ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ERCC4 ERCC excision repair 4, endonuclease catalytic subunit |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Creutzfeldt-Jakob disease Autosomal dominant |
Prion diseases |
PRNP prion protein |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Leigh syndrome Autosomal recessive, X-linked dominant, MT inheritance |
Peripheral neuropathy |
MT-ATP6 mitochondrially encoded ATP synthase 6 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 ECHS1 enoyl-CoA hydratase, short chain 1 LRPPRC leucine rich pentatricopeptide repeat containing SURF1 SURF1 cytochrome c oxidase assembly factor NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 SDHA succinate dehydrogenase complex flavoprotein subunit A DLD dihydrolipoamide dehydrogenase NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 COX15 cytochrome c oxidase assembly homolog COX15 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 MRPS34 mitochondrial ribosomal protein S34 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 SCO1 synthesis of cytochrome C oxidase 1 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II FASTKD2 FAST kinase domains 2 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 FOXRED1 FAD dependent oxidoreductase domain containing 1 MRPL39 mitochondrial ribosomal protein L39 FBXL4 F-box and leucine rich repeat protein 4 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial VPS13D vacuolar protein sorting 13 homolog D |
Reports Updated as of May 24, 2023 |
PubMed | |
| Peroxisome biogenesis disorder Autosomal recessive |
•Neonatal adrenoleukodystrophy |
Peripheral neuropathy |
PEX26 peroxisomal biogenesis factor 26 PEX16 peroxisomal biogenesis factor 16 PEX3 peroxisomal biogenesis factor 3 PEX10 peroxisomal biogenesis factor 10 PEX1 peroxisomal biogenesis factor 1 PEX14 peroxisomal biogenesis factor 14 PEX13 peroxisomal biogenesis factor 13 PEX12 peroxisomal biogenesis factor 12 PEX7 peroxisomal biogenesis factor 7 PEX6 peroxisomal biogenesis factor 6 PEX5 peroxisomal biogenesis factor 5 PEX2 peroxisomal biogenesis factor 2 PEX19 peroxisomal biogenesis factor 19 PEX11B peroxisomal biogenesis factor 11 beta |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Subacute cerebellar degeneration |
•Paraneoplastic Cerebellar Degeneration |
Encephalitis |
CDR2 cerebellar degeneration related protein 2 CDR2L cerebellar degeneration related protein 2 like |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Wolfram syndrome Autosomal recessive |
Optic neuropathy |
CISD2 CDGSH iron sulfur domain 2 WFS1 wolframin ER transmembrane glycoprotein |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Friedreich ataxia Autosomal recessive |
Ataxia with dementia |
FXN frataxin |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Spinocerebellar ataxia 12 Autosomal dominant |
Cerebellar degeneration |
PPP2R2B protein phosphatase 2 regulatory subunit Bbeta |
Reports Updated as of Nov 02, 2023 |
PubMed | |
| Frontotemporal dementia Autosomal dominant |
•FTD |
Frontotemporal degeneration with dementia |
CHMP2B charged multivesicular body protein 2B TARDBP TAR DNA binding protein MAPT microtubule associated protein tau PSEN1 presenilin 1 VCP valosin containing protein C9orf72 C9orf72-SMCR8 complex subunit CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 SQSTM1 sequestosome 1 TBK1 TANK binding kinase 1 GRN granulin precursor MEF2C myocyte enhancer factor 2C CSF1R colony stimulating factor 1 receptor VPS13C vacuolar protein sorting 13 homolog C ABCA7 ATP binding cassette subfamily A member 7 KIF5A kinesin family member 5A CCNF cyclin F CYLD CYLD lysine 63 deubiquitinase TREM2 triggering receptor expressed on myeloid cells 2 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 OPTN optineurin CHRNB4 cholinergic receptor nicotinic beta 4 subunit GLT8D1 glycosyltransferase 8 domain containing 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Progressive myoclonic epilepsy |
•Progressive myoclonus epilepsy •PME |
Epilepsy |
KCTD7 potassium channel tetramerization domain containing 7 GOSR2 golgi SNAP receptor complex member 2 PRICKLE2 prickle planar cell polarity protein 2 KCNC1 potassium voltage-gated channel subfamily C member 1 CERS1 ceramide synthase 1 EPM2A EPM2A glucan phosphatase, laforin LMNB2 lamin B2 SCARB2 scavenger receptor class B member 2 CSTB cystatin B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Primary progressive non fluent aphasia |
•Progressive non-fluent aphasia |
Frontotemporal degeneration with dementia |
TBK1 TANK binding kinase 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Perry syndrome Autosomal dominant |
•Parkinsonism with alveolar hypoventilation and mental depression |
Parkinsonian disorders |
DCTN1 dynactin subunit 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Lafora disease Autosomal recessive |
•Myoclonic epilepsy of Lafora •EPM2A-Related Lafora Disease •Epilepsy progressive myoclonic 2 •Lafora body disorder •Progressive Myoclonus Epilepsy, Lafora Typ •EPM2 •PME type 2 |
Epilepsy |
EPM2A EPM2A glucan phosphatase, laforin NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Amelocerebrohypohidrotic syndrome Autosomal recessive |
•Kohlschütter-Tönz syndrome •Epilepsy-dementia-amelogenesis imperfecta syndrome •Epilepsy and yellow teeth |
Intellectual disability |
ROGDI rogdi atypical leucine zipper |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Brown-Vialetto-van Laere syndrome 1 Autosomal recessive |
•Riboflavin transporter deficiency •Brown-Vialetto-van Laere syndrome •Pontobulbar palsy and neurosensory deafness |
Motor neuron disorder |
SLC52A3 solute carrier family 52 member 3 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Megalencephalic leukoencephalopathy with subcortical cysts Autosomal dominant, Autosomal recessive |
•Van der Knaap syndrome •MLC •Megalencephalic leukodystrophy •Leukoencephalopathy with swelling and cysts •Megalencephaly-cystic leukodystrophy •Vacuolating megalencephalic leukoencephalopathy with subcortical cysts •Van der Knaap disease |
Leukodystrophy |
MLC1 modulator of VRAC current 1 HEPACAM hepatic and glial cell adhesion molecule AQP4 aquaporin 4 GPRC5B G protein-coupled receptor class C group 5 member B |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Spinocerebellar ataxia type 1 Autosomal dominant |
•Cerebelloparenchymal disorder 1 •Olivopontocerebellar atrophy 1 •Olivopontocerebellar atrophy 4 •Spinocerebellar atrophy 1 |
Cerebellar disorders |
ATXN1 ataxin 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 2 Autosomal dominant |
•Olivopontocerebellar atrophy 2 •Olivopontocerebellar atrophy Holguin type •Spinocerebellar ataxia Cuban type •Spinocerebellar ataxia with slow eye movements •Wadia Swami syndrome |
Cerebellar disorders |
ATXN2 ataxin 2 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 3 Autosomal recessive |
•Azorean disease •Azorean neurologic disease •Machado-Joseph disease •Nigrospinodentatal degeneration •Spinocerebellar atrophy type 3 |
Cerebellar disorders |
ATXN3 ataxin 3 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 5 Autosomal dominant |
Cerebellar disorders |
SPTBN2 spectrin beta, non-erythrocytic 2 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 6 Autosomal dominant |
Cerebellar disorders |
CACNA1A calcium voltage-gated channel subunit alpha1 A |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 7 Autosomal dominant |
•Ataxia with pigmentary retinopathy •Cerebellar syndrome-pigmentary maculopathy syndrome •SCA7 |
Cerebellar disorders |
ATXN7 ataxin 7 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 8 Autosomal dominant |
Cerebellar disorders |
ATXN8OS ATXN8 opposite strand lncRNA |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 10 Autosomal dominant |
Cerebellar disorders |
ATXN10 ataxin 10 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 14 Autosomal dominant |
Cerebellar disorders |
PRKCG protein kinase C gamma |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 16 Autosomal recessive |
•Spinocerebellar ataxia type 15/16 •Spinocerebellar Ataxia Type 15 •SCA16 (formerly) |
Cerebellar disorders |
ITPR1 inositol 1,4,5-trisphosphate receptor type 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 17 Autosomal dominant |
•Huntington disease-like 4 •Cerebelloparenchymal disorder II •Olivopontocerebellar atrophy 5 •SCA 17 |
Cerebellar disorders |
TBP TATA-box binding protein |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 18 Autosomal dominant |
•Sensorimotor neuropathy with ataxia, autosomal dominant •SCA18 |
Cerebellar disorders |
IFRD1 interferon related developmental regulator 1 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 20 Autosomal dominant |
•Autosomal recessive spinocerebellar ataxia 20 •SCA20 |
Cerebellar disorders |
SNX14 sorting nexin 14 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 21 Autosomal dominant |
•SCA21 |
Cerebellar disorders |
TMEM240 transmembrane protein 240 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 28 Autosomal dominant |
•SCA28 |
Cerebellar disorders |
AFG3L2 AFG3 like matrix AAA peptidase subunit 2 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 34 Autosomal dominant |
•Giroux barbeau syndrome •SCA34 |
Cerebellar disorders |
ELOVL4 ELOVL fatty acid elongase 4 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 35 Autosomal dominant |
Cerebellar disorders |
TGM6 transglutaminase 6 |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 40 Autosomal dominant |
Cerebellar disorders |
CCDC88C coiled-coil domain containing 88C |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia type 42 Autosomal dominant |
Cerebellar disorders |
CACNA1G calcium voltage-gated channel subunit alpha1 G |
Reports Updated as of Apr 17, 2024 |
PubMed | |
| Spinocerebellar ataxia 46 Autosomal dominant |
•Spinocerebellar ataxia type 46 |
Cerebellar disorders |
PLD3 phospholipase D family member 3 |
Reports Updated as of Apr 17, 2024 |
PubMed |
| Spinocerebellar ataxia type 27 Autosomal dominant |
•Cerebellar ataxia autosomal dominant FGF14-related •Spinocerebellar ataxia 27b, Late-Onset (SCA27B) |
Cerebellar degeneration |
FGF14 fibroblast growth factor 14 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Hereditary spastic paraplegia Autosomal dominant, Autosomal recessive, X-linked dominant |
•Strümpell-Lorrain disease •Familial spastic paraplegia •Hereditary spastic paraparesis •SPG •HSP |
Spinal cord disorders |
AP5Z1 adaptor related protein complex 5 subunit zeta 1 ZFYVE26 zinc finger FYVE-type containing 26 FA2H fatty acid 2-hydroxylase SPG11 SPG11 vesicle trafficking associated, spatacsin WASHC5 WASH complex subunit 5 ZFYVE27 zinc finger FYVE-type containing 27 REEP1 receptor accessory protein 1 GJC2 gap junction protein gamma 2 NIPA1 NIPA magnesium transporter 1 ATL1 atlastin GTPase 1 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin SPAST spastin CYP7B1 cytochrome P450 family 7 subfamily B member 1 SLC33A1 solute carrier family 33 member 1 PNPLA6 patatin like phospholipase domain containing 6 KIF5A kinesin family member 5A SPG7 SPG7 matrix AAA peptidase subunit, paraplegin PLP1 proteolipid protein 1 HSPD1 heat shock protein family D (Hsp60) member 1 KIF1A kinesin family member 1A AP4M1 adaptor related protein complex 4 subunit mu 1 RTN2 reticulon 2 AP4E1 adaptor related protein complex 4 subunit epsilon 1 ERLIN2 ER lipid raft associated 2 CYP2U1 cytochrome P450 family 2 subfamily U member 1 MTRFR mitochondrial translation release factor in rescue DDHD1 DDHD domain containing 1 TECPR2 tectonin beta-propeller repeat containing 2 DDHD2 DDHD domain containing 2 VPS37A VPS37A subunit of ESCRT-I GBA2 glucosylceramidase beta 2 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 REEP2 receptor accessory protein 2 NT5C2 5'-nucleotidase, cytosolic II TFG trafficking from ER to golgi regulator AMPD2 adenosine monophosphate deaminase 2 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 MAG myelin associated glycoprotein AP4B1 adaptor related protein complex 4 subunit beta 1 CPT1C carnitine palmitoyltransferase 1C IBA57 iron-sulfur cluster assembly factor IBA57 SACS sacsin molecular chaperone ALDH18A1 aldehyde dehydrogenase 18 family member A1 ERLIN1 ER lipid raft associated 1 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial GAD1 glutamate decarboxylase 1 KY kyphoscoliosis peptidase DSTYK dual serine/threonine and tyrosine protein kinase WDR48 WD repeat domain 48 SETX senataxin BICD2 BICD cargo adaptor 2 KIF1C kinesin family member 1C SETBP1 SET binding protein 1 SLC16A2 solute carrier family 16 member 2 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 PTPN23 protein tyrosine phosphatase non-receptor type 23 C19orf12 chromosome 19 open reading frame 12 POLG DNA polymerase gamma, catalytic subunit SPG21 SPG21 abhydrolase domain containing, maspardin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 L1CAM L1 cell adhesion molecule PGAP1 post-GPI attachment to proteins inositol deacylase 1 TCF4 transcription factor 4 FGG fibrinogen gamma chain COL3A1 collagen type III alpha 1 chain USP8 ubiquitin specific peptidase 8 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Giant axonal neuropathy 1 Autosomal recessive |
•gan giant axonal neuropathy •giant axonal neuropathy caused by mutation in gan •giant axonal neuropathy type 1 •giant axonal neuropathy-1 •giant axonal neuropathy 1, autosomal recessive |
Peripheral neuropathy |
GAN gigaxonin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Charlevoix-Saguenay spastic ataxia Autosomal recessive |
•autosomal recessive spastic ataxia type 6 •ARSACS •SPAX6 •autosomal recessive spastic ataxia of Charlevoix-Saguenay •spastic ataxia 6, autosomal recessive •spastic ataxia of Charlevoix-Saguenay |
Cerebellar disorder |
SACS sacsin molecular chaperone |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Agenesis of the corpus callosum with peripheral neuropathy Autosomal recessive |
•Andermann syndrome •Charlevoix disease •corpus callosum agenesis-neuronopathy syndrome •hereditary motor and sensory neuropathy with agenesis of the corpus callosum •peripheral neuropathy associated with agenesis of the corpus callosum •Agenesis of corpus callosum with neuronopathy •Agenesis of corpus callosum with peripheral neuropathy •Agenesis of corpus callosum with polyneuropathy •Corpus callosum agenesis neuronopathy •Hmsn/acc •Hereditary motor and sensory neuropathy with agenesis of the corpus callosum •Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum |
Peripheral neuropathy |
SLC12A6 solute carrier family 12 member 6 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Infantile neuroaxonal dystrophy Autosomal recessive |
•Neurodegeneration with brain iron accumulation 2a •Seitelberger disease •inaD •infantile neuroaxonal dystrophy 1 •NBIA2A •neurodegeneration with brain iron accumulation type 2a •neurodegeneration, pla2g6-associated •phospholipase A2-associated neurodegeneration •PLAN |
Cerebellar disorder |
PLA2G6 phospholipase A2 group VI |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Neurodegeneration with brain iron accumulation Autosomal dominant, Autosomal recessive |
•NBIA |
Dementia |
PLA2G6 phospholipase A2 group VI C19orf12 chromosome 19 open reading frame 12 WDR45 WD repeat domain 45 COASY Coenzyme A synthase FA2H fatty acid 2-hydroxylase CRAT carnitine O-acetyltransferase REPS1 RALBP1 associated Eps domain containing 1 ATP13A2 ATPase cation transporting 13A2 DCAF17 DDB1 and CUL4 associated factor 17 FTH1 ferritin heavy chain 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Marinesco-Sjögren syndrome Autosomal recessive |
•Oligophrenic cerebellolenticular degeneration •Garland-Moorhouse syndrome •hereditary oligophrenic cerebello-lental degeneration •Marinesco-Garland syndrome •Marshall Smith Syndrome •Marinesco-Sjogren Syndrome •Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism •Marinesco-Sjogren Syndrome-Myopathy •Marinesco-Sjogren-Garland Syndrome •Marinesco-Sjögren syndrome |
Cerebellar disorder |
SIL1 SIL1 nucleotide exchange factor |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Progressive sclerosing poliodystrophy Autosomal recessive |
•Mitochondrial dna depletion syndrome 4a •Alper syndrome •Poliodystrophia cerebri progressiva •Progressive cerebral poliodystrophy •Alper's disease •Alper's syndrome •Alpers disease •Alpers Huttenlocher disease •Alpers Huttenlocher syndrome •Alpers progressive infantile poliodystrophy •Alpers progressive sclerosing poliodystrophy •Alpers syndrome • Alpers-Huttenlocher syndrome •Alpers disease or gray-matter degeneration •mitochondrial DNA depletion syndrome type 4a •progressive neuronal degeneration of childhood with liver disease •Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis •Alpers-Huttenlocher Syndrome •Diffuse cerebral degeneration in infancy •Infantile poliodystrophy •Mitochondrial DNA depletion syndrome 4A (Alpers type) •Neuronal degeneration of childhood with liver disease, progressive •AHD •AHS |
Cerebral degeneration |
POLG DNA polymerase gamma, catalytic subunit EDAR ectodysplasin A receptor |
Reports Updated as of Feb 26, 2025 |
PubMed |