Charcot-marie-tooth disease, X-linked dominant, 6

Preferred Label : Charcot-marie-tooth disease, X-linked dominant, 6;

Symbol : CMTX6;

CISMeF acronym : CMTX6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, X-linked dominant, 6;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the pyruvate dehydrogenase kinase, isoenzyme 3 gene (PDK3, 300906.0001);

Prefixed ID : #300905;

Details

Origin ID

300905;

UMLS CUI

C3806702;

Automatic exact mappings (from CISMeF team)
- PDK3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
- X-linked Charcot-Marie-Tooth disease type 6 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 6 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
Genes related to phenotype
- Pyruvate dehydrogenase kinase, isoenzyme 3 [OMIM gene]
HPO term(s)
- Hand muscle weakness [HPO term]
- Hand tremor [HPO term]
- Hyporeflexia [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Polyneuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Somatic sensory dysfunction [HPO term]
- Steppage gait [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked Charcot-Marie-Tooth disease type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked dominant 6 [DO Concept]
- X-linked Charcot-Marie-Tooth disease type 6 (disorder) [SNOMED CT concept]

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