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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)

       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:10519
Name:Spinocerebellar Ataxia, Autosomal Recessive 7
Definition:
Alternative IDs:OMIM:609270
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C563753 |C10.228.140.252.700.700/C563753 |C10.228.854.787.875/C563753 |C10.574.500.825.700/C563753 |C10.597.350.090.500.530/C563753 |C16.320.400.780.875/C563753
Synonyms:SCAR7
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C563753
MeSH: C563753
OMIM: 609270;

Genes: TPP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0001251Ataxia
4 HP:0003487Babinski sign
5 HP:0001272Cerebellar atrophy
6 HP:0002312Clumsiness
7 HP:0000651Diplopia
8 HP:0001260Dysarthria
9 HP:0002066Gait ataxia
10 HP:0007338Hypermetric saccades
11 HP:0001347Hyperreflexia
12 HP:0002495Impaired vibratory sensation
13 HP:0002070Limb ataxia
14 HP:0000639Nystagmus
15 HP:0002174Postural tremor
16 HP:0001152Saccadic smooth pursuit
17 HP:0003677Slowly progressive
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000391.3(TPP1):c.1397T>G (p.Val466Gly)1200TPP1Pathogenic398122959RCV000074609; NMedGen:C1836474,OMIM:609270,ORPHA:2843241166364306636430NM_000391.3:c.1397T>GNP_000382.3:p.Val466GlyNC_000011.9:g.6636430A>COMIM Allelic Variant:607998.0010C1836474 609270 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
NM_000391.3(TPP1):c.509-1G>C1200TPP1Pathogenic56144125RCV000002763; RCV000074608; RCV000189765; RCV000210689; YMedGen:C0950123; MedGen:C1836474,OMIM:609270,ORPHA:284324; MedGen:C1876161,OMIM:204500,ORPHA:228349; MedGen:CN2218091166383856638385NM_000391.3:c.509-1G>CNC_000011.9:g.6638385C>G,NC_000011.9:g.6638385C>TOMIM Allelic Variant:607998.0004C1876161 204500 Ceroid lipofuscinosis neuronal 2; C1836474 609270 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia; C0950123 Inborn genetic diseases; CN221809 not provided