SPAX9
MCID: SPS233
MIFTS: 21
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Spastic Ataxia 9, Autosomal Recessive (SPAX9)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spastic Ataxia 9, Autosomal Recessive:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in the first decade one consanguineous family has been reported (last curated may 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases |
UniProtKB/Swiss-Prot :
73
Spastic ataxia 9, autosomal recessive: An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses.
MalaCards based summary : Spastic Ataxia 9, Autosomal Recessive, is also known as spax9. An important gene associated with Spastic Ataxia 9, Autosomal Recessive is CHP1 (Calcineurin Like EF-Hand Protein 1). Affiliated tissues include eye and bone, and related phenotypes are cerebellar vermis atrophy and spasticity |
Human phenotypes related to Spastic Ataxia 9, Autosomal Recessive:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618438 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Spastic Ataxia 9, Autosomal Recessive:40
Eye,
Bone
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Articles related to Spastic Ataxia 9, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Ataxia 9, Autosomal Recessive:6
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Search
GEO
for disease gene expression data for Spastic Ataxia 9, Autosomal Recessive.
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