SCA43
MCID: SPN372
MIFTS: 27
|
Spinocerebellar Ataxia 43 (SCA43)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Spinocerebellar Ataxia 43:Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive adult onset (range 42 to 68 years) one belgian family has been reported (last curated july 2016) HPO:32
spinocerebellar ataxia 43:
Onset and clinical course adult onset slow progression Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases |
OMIM
:
57
Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (617018)
MalaCards based summary : Spinocerebellar Ataxia 43, also known as sca43, is related to charcot-marie-tooth disease, axonal, type 2t and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 43 is MME (Membrane Metalloendopeptidase). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 43: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617018Human phenotypes related to Spinocerebellar Ataxia 43:32 (show all 13)
|
|
MalaCards organs/tissues related to Spinocerebellar Ataxia 43:41
Eye,
Spinal Cord,
Cerebellum,
Skin,
Liver
|
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 43:75
ClinVar genetic disease variations for Spinocerebellar Ataxia 43:6
|
Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 43.
|
|
|