Charcot-marie-tooth disease, demyelinating, type 4b1

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4b1;

Symbol : CMT4B1;

CISMeF acronym : CMT4B; CMT4B1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, type 4b; Charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1; Charcot-marie-tooth neuropathy, type 4b1; CMT4B;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myotubularin-related protein-2 gene (MTMR2, 603557.0001);

Prefixed ID : #601382;

Details

Origin ID

601382;

UMLS CUI

C1832399;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4B1 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4B1 [MeSH concept]
- Charcot-Marie-Tooth disease, type 4B1 [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
Genes related to phenotype
- Myotubularin-related protein 2 [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased motor nerve conduction velocity [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]
- Facial palsy [HPO term]
- Heterogeneous [HPO term]
- Irregular myelin loops [HPO term]
- Motor delay [HPO term]
- Proximal muscle weakness [HPO term]
- Scoliosis [HPO term]
- Severely decreased motor nerve conduction velocity [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
- Charcot-Marie-Tooth disease type 4B1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4B1 [MeSH concept]
- Charcot-Marie-Tooth disease, type 4B1 [MeSH Supplementary Concept]

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