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Spinocerebellar Ataxias (D020754)
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Spinocerebellar 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)  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:11545
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:SCA15 |SCA16, FORMERLY |SPINOCEREBELLAR ATAXIA 16, FORMERLY
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C564685
MeSH: C564685
OMIM: 606658;
MSeqDR LSDB:  
Genes: ITPR1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0003621Juvenile onset
4 HP:0001272Cerebellar atrophy
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0000641Dysmetric saccades
7 HP:0002066Gait ataxia
8 HP:0007979Gaze-evoked horizontal nystagmus
9 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
10 HP:0007772Impaired smooth pursuit
11 HP:0002070Limb ataxia
12 HP:0002174Postural tremor
13 HP:0002168Scanning speech
14 HP:0003677Slow progression
15 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)3708ITPR1Likely pathogenicrs1559603328RCV000782008|RCV001334024; NMedGen:CN517202|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770346872974687299CAGGCNC_000003.11:g.4687299_4687301del-
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)3708ITPR1Pathogenic/Likely pathogenic-1RCV001545840|RCV001729945; NMedGen:CN517202|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770346873054687305TC4687305-
NM_001378452.1(ITPR1):c.951+35G>C3708ITPR1Benign-1RCV001665961|RCV001730931|RCV001730932|RCV001730930; NMedGen:CN517202|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065346939374693937GC4693937-
NM_001378452.1(ITPR1):c.1252-10T>A3708ITPR1Uncertain significance-1RCV001837047; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065347037564703756TA4703756-
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)3708ITPR1Likely pathogenic-1RCV001733872; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770347048524704852CT4704852-
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)3708ITPR1Benignrs2306875RCV000117299|RCV000369453|RCV000987082|RCV000992190|RCV001730527|RCV001730526; NMedGen:CN169374|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MedGen:CN517202|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0008795,MedGen:C0431347124134712413GANC_000003.11:g.4712413G>AClinGen:CA153210CN169374 not specified;
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)3708ITPR1Benignrs2306877RCV000117300|RCV000323015|RCV001521930|RCV001730530|RCV001730529|RCV001730528; NMedGen:CN169374|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99|MedGen:CN517202|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0008795,MedGen:C0431347168114716811ACNC_000003.11:g.4716811A>CClinGen:CA153213CN169374 not specified;
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)3708ITPR1Uncertain significancers1574832115RCV001329639; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770347222954722295GA4722295-
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)3708ITPR1Uncertain significancers747698039RCV001329640|RCV001859265; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MedGen:CN517202347251144725114CT4725114-
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)3708ITPR1Pathogenicrs121912425RCV000015924; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770347251564725156CT3:g.4725156C>TOMIM:147265.0002,ClinGen:CA341334C1847725 606658 Spinocerebellar ataxia 15;
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)3708ITPR1Uncertain significancers1467772045RCV000610129|RCV001770541; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MedGen:CN517202347251594725159CT3:g.4725159C>TClinGen:CA351650688C1847725 606658 Spinocerebellar ataxia 15;
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr)3708ITPR1Uncertain significancers372881053RCV000517552|RCV000764508; NMedGen:CN169374|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513; MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065347268524726852GA3:g.4726852G>AClinGen:CA2231766CN169374 not specified;
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)3708ITPR1Uncertain significancers768179678RCV001262939|RCV002051929; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MedGen:CN517202347302424730242GA3:g.4730242G>A-
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)3708ITPR1Conflicting interpretations of pathogenicityrs188558398RCV000992197|RCV001147931|RCV001262674|RCV001251784; NMedGen:CN517202|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Huma347415104741510CT3:g.4741510C>T-
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)3708ITPR1Uncertain significancers749048534RCV001329644; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770347445184744518GA4744518-
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)3708ITPR1Benignrs7613447RCV000992199|RCV001730745|RCV001730746|RCV001730747; NMedGen:CN517202|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513347672624767262TC3:g.4767262T>C-
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)3708ITPR1Benign-1RCV001521931|RCV001529663|RCV001730814|RCV001730815|RCV001730813; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065348170574817057TC4817057-
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)3708ITPR1Benignrs711631RCV000117304|RCV000288234|RCV000992209|RCV001730535|RCV001730536|RCV001730534; NMedGen:CN169374|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99|MedGen:CN517202|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0008795,MedGen:C0431348561804856180TCNC_000003.11:g.4856180T>CClinGen:CA153225CN169374 not specified;
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)3708ITPR1Conflicting interpretations of pathogenicityrs1553757628RCV000622722|RCV000992210|RCV000764511|RCV001542743; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0008795,MedGen:C0431401,OMIM:206700, Orphanet:1065; MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770; MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0007298348561934856193GA3:g.4856193G>AClinGen:CA351649065C0950123 Inborn genetic diseases;
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)3708ITPR1Benignrs901854RCV000117305|RCV000379072|RCV000992211|RCV001730539|RCV001730538|RCV001730537; NMedGen:CN169374|MONDO:MONDO:0020380,MedGen:CN227858,OMIM:PS164400, Orphanet:99|MedGen:CN517202|MONDO:MONDO:0007298,MedGen:C1861732,OMIM:117360, Orphanet:208513|MONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MONDO:MONDO:0008795,MedGen:C0431348562344856234GANC_000003.11:g.4856234G>AClinGen:CA153228CN169374 not specified;
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)3708ITPR1Pathogenicrs869312685RCV000209834|RCV001310467; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770|MedGen:CN517202348568194856819GA3:g.4856819G>AClinGen:CA353411C1847725 606658 Spinocerebellar ataxia 15;
Single allele-1ITPR1;ITPR1-DT;LOC112935931;LOPathogenic-1RCV000678034; NMONDO:MONDO:0000561,MedGen:C1847725,OMIM:606658, Orphanet:98770341342244665869nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
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