|
SCA37
MCID: SPN283
MIFTS: 36
|
Spinocerebellar Ataxia 37 (SCA37)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Spinocerebellar Ataxia 37:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM®:57 (Updated 20-May-2021)
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:31
spinocerebellar ataxia 37:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression GeneReviews:25
Penetrance Lifelong penetrance in sca37 was 100% in all described families, but penetrance is age dependent [seixas et al 2017, corral-juan et al 2018].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
|
UniProtKB/Swiss-Prot :
72
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 hereditary ataxia and autosomal dominant cerebellar ataxia, 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 is Spinocerebellar ataxia. Affiliated tissues include eye, liver and cerebellum, and related phenotypes are cogwheel rigidity and falls 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® : 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) (Updated 20-May-2021)
GeneReviews:
NBK541729
|
Human phenotypes related to Spinocerebellar Ataxia 37:58 31 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:615945 (Updated 20-May-2021)UMLS symptoms related to Spinocerebellar Ataxia 37:cerebellar ataxia |
|
|
MalaCards organs/tissues related to Spinocerebellar Ataxia 37:40
Eye,
Liver,
Cerebellum,
Spinal Cord,
Cortex,
Endothelial,
Temporal Lobe
|
Articles related to Spinocerebellar Ataxia 37:(show all 18)
|
Genes related to Spinocerebellar Ataxia 37 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
|
Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 37.
|
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:
|
|