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

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

Symbol : CMT2N;

CISMeF acronym : CMT2N;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alanyl-tRNA synthetase gene (AARS, 601065.0001);

Prefixed ID : #613287;

Détails

Origin ID

613287;

UMLS CUI

C2750090;

Automatic exact mappings (from CISMeF team)
- alanyl-tRNA synthetase 1 [ORDO Gene]
- alanyl-tRNA synthetase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ICD-11 More detail]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2N [DO Concept]
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH concept]
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2N [DO Concept]
Genes related to phenotype
- Alanyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Middle age onset [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2N [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH concept]

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