Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSpinocerebellar Degenerations (D013132)
..Starting node
..expandSpinocerebellar ataxia 13 (C537195)

       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:10495
Name:Spinocerebellar ataxia 13
Definition:
Alternative IDs:OMIM:605259
ParentIDs:MESH:D013132
TreeNumbers:C10.228.140.252.700/C537195 |C10.228.854.787/C537195 |C10.574.500.825/C537195 |C16.320.400.780/C537195
Synonyms:Autosomal dominant cerebellar ataxia with mental retardation |Cerebellar ataxia, autosomal dominant with mental retardation |SCA13
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537195
MeSH: C537195
OMIM: 605259;

Genes: KCNC3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007256Abnormal pyramidal sign
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
5 HP:0002066Gait ataxia
6 HP:0001290Generalized hypotonia
7 HP:0000365Hearing impairmentHP:0040283
8 HP:0001347Hyperreflexia
9 HP:0001252Hypotonia
10 HP:0001249Intellectual disability
11 HP:0008003Jerky ocular pursuit movements
12 HP:0002070Limb ataxia
13 HP:0002406Limb dysmetria
14 HP:0002062Morphological abnormality of the pyramidal tract
15 HP:0001270Motor delay
16 HP:0000639Nystagmus
17 HP:0000648Optic atrophy
18 HP:0002073Progressive cerebellar ataxia
19 HP:0003677Slowly progressive
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004977.2(KCNC3):c.1344C>A (p.Phe448Leu)3748KCNC3Pathogenic104894700RCV000014416; NMedGen:C1854488,OMIM:605259,ORPHA:98768195082686650826866NM_004977.2:c.1344C>ANP_004968.2:p.Phe448LeuNC_000019.9:g.50826866G>TOMIM Allelic Variant:176264.0002C1854488 605259 Spinocerebellar ataxia 13
NM_004977.2(KCNC3):c.1259G>A (p.Arg420His)3748KCNC3Pathogenic104894699RCV000014415; NMedGen:C1854488,OMIM:605259,ORPHA:98768195082695150826951NM_004977.2:c.1259G>ANP_004968.2:p.Arg420HisNC_000019.9:g.50826951C>TOMIM Allelic Variant:176264.0001C1854488 605259 Spinocerebellar ataxia 13