SPAX7
MCID: SPS191
MIFTS: 19
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Spastic Ataxia 7, Autosomal Dominant (SPAX7)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spastic Ataxia 7, Autosomal Dominant:
Name: Spastic Ataxia 7, Autosomal Dominant
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset (range childhood to adult) HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Spastic Ataxia 7, Autosomal Dominant, also known as spastic ataxia with congenital miosis, is related to microcoria, congenital and ataxia and polyneuropathy, adult-onset, and has symptoms including ataxia, dysdiadochokinesis and gait ataxia. Affiliated tissues include eye, and related phenotypes are dysarthria and congenital miosis
More information from OMIM:
108650
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Diseases in the Spastic Ataxia family:Diseases related to Spastic Ataxia 7, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Spastic Ataxia 7, Autosomal Dominant:58 31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:108650 (Updated 05-Mar-2021)UMLS symptoms related to Spastic Ataxia 7, Autosomal Dominant:ataxia, dysdiadochokinesis, gait ataxia, muscle spasticity, ataxia, truncal |
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MalaCards organs/tissues related to Spastic Ataxia 7, Autosomal Dominant:40
Eye
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Articles related to Spastic Ataxia 7, Autosomal Dominant:
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Search
GEO
for disease gene expression data for Spastic Ataxia 7, Autosomal Dominant.
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