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SURF1-related Charcot-Marie-Tooth disease type 4
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Leigh syndrome with leukodystrophy
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Isolated NADH-CoQ reductase deficiency
Isolated cytochrome C oxidase deficiency
Isolated CoQ-cytochrome C reductase deficiency
Synonym(s):
- CMT4K
- Charcot-Marie-Tooth disease type 4K
- SURF1-related CMT4
- SURF1-related severe demyelinating Charcot-Marie-Tooth disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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 recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
SURF1 Q15526185620
No signs/symptoms info available.