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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Dehydratase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Dehydratase deficiency

KIF5A
(UniProt - OMIM)
 PCBD1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIF5A
(0.49)
PCBD1


Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
KIF5A
Dehydratase deficiency
PCBD1



Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Dehydratase deficiency

Synonym(s):
- CMT due to KIF5A mutation
Synonym(s):
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.