Charcot-marie-tooth disease, axonal, type 2y

Preferred Label : Charcot-marie-tooth disease, axonal, type 2y;

Symbol : CMT2Y;

CISMeF acronym : CMT2Y;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2y; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2y;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the valosin-containing protein gene (VCP, 601023.0010);

Laboratory abnormalities : Increased serum creatine kinase (1 patient);

Prefixed ID : #616687;

Details

Origin ID

616687;

UMLS CUI

C5569026;

CISMeF manual mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
- Charcot-Marie-Tooth disease type 2Y [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2Y [NCIt concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2Y [DO Concept]
Genes related to phenotype
- Valosin-containing protein [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hammertoe [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth Disease Type 2Y [NCIt concept]
- Charcot-Marie-Tooth disease type 2Y [DO Concept]

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