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SCA37
MCID: SPN283
MIFTS: 41
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Spinocerebellar Ataxia 37 (SCA37)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 37:
Characteristics:Orphanet epidemiological data:60
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive de novo mutation (in some patients) some patients become wheelchair-bound mean age at onset 48 years (range late teens to early 60s) vertical eye movement abnormalities appear before horizontal eye movement abnormalities increased frequency among families from southern portugal and spain HPO:33
spinocerebellar ataxia 37:
Onset and clinical course 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
ICD10:
35
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UniProtKB/Swiss-Prot
:
76
Spinocerebellar ataxia 37: 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. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.
MalaCards based summary : Spinocerebellar Ataxia 37, also known as sca37, is related to cone-rod dystrophy and hearing loss 2 and ataxia and polyneuropathy, adult-onset, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 37 is DAB1 (DAB Adaptor Protein 1), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are falls and cogwheel rigidity Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has material basis in mutation to the DAB1 gene. OMIM : 58 Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615945) |
Human phenotypes related to Spinocerebellar Ataxia 37:60 33 (show all 23)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:615945UMLS symptoms related to Spinocerebellar Ataxia 37:cerebellar ataxia |
Interventional clinical trials:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 37:42
Eye,
Brain,
Cerebellum,
Spinal Cord,
Cortex,
Skin,
Liver
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Articles related to Spinocerebellar Ataxia 37:
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Genes related to Spinocerebellar Ataxia 37 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia 37:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 37.
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Cellular components related to Spinocerebellar Ataxia 37 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 37 according to GeneCards Suite gene sharing:
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