MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandSpinocerebellar ataxia 8 (C537307)

       Child Nodes:



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1  LSDB C:1
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15  LSDB C:1
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34  LSDB C:2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11559
Name:Spinocerebellar ataxia 8
Definition:
Alternative IDs:OMIM:608768
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537307 |C10.228.854.787/C537307 |C10.574.500.825/C537307 |C16.320.400.780/C537307
Synonyms:SCA8
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537307
MeSH: C537307
OMIM: 608768;
MSeqDR LSDB:  
Genes: ATXN8; ATXN8OS;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007256Abnormal pyramidal signs
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
5 HP:0000641Dysmetric saccades
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
7 HP:0007772Impaired smooth pursuit
8 HP:0002311Incoordination
9 HP:0002062Morphological abnormality of the pyramidal tract
10 HP:0000639Nystagmus
11 HP:0009830Peripheral neuropathy
12 HP:0002073Progressive cerebellar ataxia
NAMDC:  Ataxia cerebellar
13 HP:0000763Sensory neuropathyHP:0040283
14 HP:0000514Slow saccadic eye movements
15 HP:0001257Spasticity
NAMDC:  Spasticity
16 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NR_002717.2(ATXN8OS):n.1103CTG[(15_40)]-1ATXN8;LOC109461478;ATXN8OSBenign-1RCV001260914; NMONDO:MONDO:0012116,MedGen:C1837454,OMIM:608768, Orphanet:98760137071351670713518nana-1OMIM:603680.0001,OMIM:613289.0001
MSeqDR Portal