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

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

Symbol : CMT2DD;

CISMeF acronym : CMT2DD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2dd;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na /K transporting, alpha-1 polypeptide gene (ATP1A1, 182310.0001);

Prefixed ID : #618036;

Details

Origin ID

618036;

UMLS CUI

C4747974;

Automatic exact mappings (from CISMeF team)
- ATP1A1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2DD [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2DD [DO Concept]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-1 polypeptide [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hyporeflexia [HPO term]
- Muscle spasm [HPO term]
- Pes cavus [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD (disorder) [SNOMED CT concept]

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