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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar ataxia 30 (C575214)

       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:10509
Name:Spinocerebellar ataxia 30
Definition:
Alternative IDs:OMIM:613371
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C575214 |C10.228.140.252.700.700/C575214 |C10.228.854.787.875/C575214 |C10.574.500.825.700/C575214 |C10.597.350.090.500.530/C575214 |C16.320.400.780.875/C575214
Synonyms:SCA30
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C575214
MeSH: C575214
OMIM: 613371;

Genes: SCA30;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0003587Insidious onset
4 HP:0001251Ataxia
5 HP:0001272Cerebellar atrophy
6 HP:0001260Dysarthria
7 HP:0000640Gaze-evoked nystagmusHP:0040283
8 HP:0007338Hypermetric saccades
9 HP:0003677Slowly progressive
Disease Causing ClinVar Variants