MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia 31 (C566146)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 28 (C537205)  LSDB  L: 00498;
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11558
Name:Spinocerebellar Ataxia 31
Definition:
Alternative IDs:OMIM:117210
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C566146 |C10.228.140.252.700.700/C566146 |C10.228.854.787.875/C566146 |C10.574.500.825.700/C566146 |C10.597.350.090.500.530/C566146 |C16.320.400.780.875/C566146
Synonyms:SCA31 |Spinocerebellar Ataxia, 16q22-Linked
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C566146
MeSH: C566146
OMIM: 117210;
MSeqDR LSDB:  
Genes: BEAN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003584Late onsetHP:0040282
3 HP:0001251Ataxia
4 HP:0001272Cerebellar atrophy
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0002066Gait ataxia
7 HP:0007979Gaze-evoked horizontal nystagmusHP:0040282
8 HP:0002070Limb ataxia
9 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss		HP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001129729.3(PLEKHG4):c.-16C>T25894PLEKHG4Uncertain significance886041026RCV000001702; NMONDO:MONDO:0007296,MedGen:C1861736,OMIM:117210, Orphanet:21701216673139326731393216:g.67313932C>TClinGen:CA10602345,OMIM:609526.0001C1861736 117210 Spinocerebellar ataxia 31;
MSeqDR Portal