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

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

Symbol : CMT2J;

CISMeF acronym : CMT2J;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2j; Charcot-marie-tooth disease, type 2, with hearing loss and pupillary abnormalities;

Description : For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the myelin protein zero gene (MPZ, 159440.0016);

Prefixed ID : #607736;

Details

Origin ID

607736;

UMLS CUI

C1843153;

Automatic exact mappings (from CISMeF team)
- myelin protein zero [ORDO Gene]
- myelin protein zero [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2J [DO Concept]
- Charcot-Marie-Tooth disease, Type 2J [MeSH concept]
- Charcot-Marie-Tooth disease, type 2J [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2J [DO Concept]
Genes related to phenotype
- Myelin protein zero [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Deafness [HPO term]
- Demyelination [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Dysphagia [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hyporeflexia [HPO term]
- Middle age onset [HPO term]
- Peripheral demyelination [HPO term]
- Pes cavus [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Recurrent coughing spasms [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slow pupillary light response [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2J [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2J [MeSH concept]
- Charcot-Marie-Tooth disease, type 2J [MeSH Supplementary Concept]

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