SCA30
MCID: SPN102
MIFTS: 34
|
Spinocerebellar Ataxia 30 (SCA30)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Spinocerebellar Ataxia 30:Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 30
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy; OMIM:56
Miscellaneous:
slow progression insidious onset adult onset (45 to 76 years) one family has been reported (as of 4/2010)
Inheritance:
autosomal dominant HPO:31
spinocerebellar ataxia 30:
Inheritance autosomal dominant inheritance Onset and clinical course adult onset slow progression insidious onset Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
![]() |
Disease Ontology :
12
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has material basis in mutation in the ODZ3 gene.
MalaCards based summary : Spinocerebellar Ataxia 30, also known as spinocerebellar ataxia type 30, is related to spinocerebellar ataxia 26 and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 30 is SCA30 (Spinocerebellar Ataxia 30), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Spinocerebellar ataxia. Related phenotypes are dysarthria and gait ataxia |
Human phenotypes related to Spinocerebellar Ataxia 30:58 31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613371MGI Mouse Phenotypes related to Spinocerebellar Ataxia 30:45
|
|
Articles related to Spinocerebellar Ataxia 30:
|
|
Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 30.
|
Cellular components related to Spinocerebellar Ataxia 30 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 30 according to GeneCards Suite gene sharing:
|
|