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MCID: SPN283
MIFTS: 27
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Spinocerebellar Ataxia 37
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 37:
Characteristics:Orphanet epidemiological data:59
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive some patients become wheelchair-bound de novo mutation in some patients mean age at onset 48 years (range late teens to early 60s) family a is of spanish descent and was the first described family vertical eye movement abnormalities appear before horizontal eye movement abnormalities (family a) increased frequency among families from southern portugal HPO:32
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 Mental diseases Ear diseases Liver diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
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 autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 37 is DAB1 (DAB1, Reelin Adaptor Protein). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are abnormal conjugate eye movement and cogwheel rigidity OMIM : 57 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615945Human phenotypes related to Spinocerebellar Ataxia 37:59 32 (show all 22)
UMLS symptoms related to Spinocerebellar Ataxia 37:cerebellar ataxia |
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MalaCards organs/tissues related to Spinocerebellar Ataxia 37:41
Eye,
Brain,
Spinal Cord,
Cerebellum
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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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