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X-linked Charcot-Marie-Tooth disease type 6
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Pyruvate dehydrogenase E2 deficiency
Giant cell glioblastoma
Gliosarcoma
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-alpha deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- CMT6X
- CMTX6
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PDK3 Q15120300906
No signs/symptoms info available.