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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
..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
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar ataxia 28 (C537205)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..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
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10511
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;

Genes: ATXN8; ATXN8OS;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007256Abnormal pyramidal sign
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
5 HP:0000641Dysmetric saccades
6 HP:0002015Dysphagia
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
13 HP:0000763Sensory neuropathyHP:0040283
14 HP:0000514Slow saccadic eye movements
15 HP:0001257Spasticity
16 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40)6315ATXN8OSPathogenic;risk factor193922930RCV000006518; RCV000006519; NMedGen:C1837454,OMIM:608768,ORPHA:98760; MedGen:C3160718,OMIM:168600,SNOMED CT:49049000137071351670713518--OMIM Allelic Variant:603680.0001C3160718 168600 Parkinson disease, late-onset; C1837454 608768 Spinocerebellar ataxia 8