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Spectrin-associated autosomal recessive cerebellar ataxia
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Spinocerebellar ataxia type 5
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Amyotrophic lateral sclerosis
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Distal hereditary motor neuropathy type 7
Hereditary spherocytosis
Intermediate nemaline myopathy
Perry syndrome
Severe congenital nemaline myopathy
Typical nemaline myopathy
Syndromic X-linked intellectual deficit due to JARID1C mutation
Synonym(s):
- Autosomal recessive cerebellar ataxia - cognitive defect
- Autosomal recessive spinocerebellar ataxia type 14
- SCAR14
- SPARCA
- SPARCA1
- Spectrin-associated autosomal recessive cerebellar ataxia type 1
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SPTBN2 O15020604985
No signs/symptoms info available.