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Charcot-Marie-Tooth disease type 1C
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Syndromic multisystem autoimmune disease due to Itch deficiency
Solitary fibrous tumor
22q11.2 deletion syndrome
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Spinocerebellar ataxia type 1
Synonym(s):
- CMT1C
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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537984
Gene symbol UniProt reference OMIM reference
LITAF Q99732603795
No signs/symptoms info available.