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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia 15 (C564685)

       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)
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..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 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, CTD
Term ID:10497
Name:Spinocerebellar Ataxia 15
Definition:
Alternative IDs:OMIM:606658
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C564685 |C10.228.140.252.700.700/C564685 |C10.228.854.787.875/C564685 |C10.574.500.825.700/C564685 |C10.597.350.090.500.530/C564685 |C16.320.400.780.875/C564685
Synonyms:SCA16, FORMERLY |SPINOCEREBELLAR ATAXIA 15;SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C564685
MeSH: C564685
OMIM: 606658;

Genes: ITPR1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0003621Juvenile onset
4 HP:0001272Cerebellar atrophy
5 HP:0001260Dysarthria
6 HP:0000641Dysmetric saccades
7 HP:0002066Gait ataxia
8 HP:0007979Gaze-evoked horizontal nystagmus
9 HP:0001347Hyperreflexia
10 HP:0007772Impaired smooth pursuit
11 HP:0002070Limb ataxia
12 HP:0002174Postural tremor
13 HP:0002168Scanning speech
14 HP:0003677Slowly progressive
15 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002222.5(ITPR1):c.3176C>T (p.Pro1059Leu)3708ITPR1Pathogenic121912425RCV000015924; NMedGen:C1847725,OMIM:606658,ORPHA:98769347251564725156NM_002222.5:c.3176C>TNP_002213.5:p.Pro1059LeuNC_000003.11:g.4725156C>TOMIM Allelic Variant:147265.0002C1847725 606658 Spinocerebellar ataxia 15
NM_001168272.1(ITPR1):c.7739G>A (p.Gly2580Glu)3708ITPR1Pathogenic869312685RCV000209834; NMedGen:C1847725,OMIM:606658,ORPHA:98769348568194856819NM_001168272.1:c.7739G>ANP_001161744.1:p.Gly2580GluNC_000003.11:g.4856819G>A-C1847725 606658 Spinocerebellar ataxia 15