Charcot-marie-tooth disease, demyelinating, type 4b2

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4b2;

Symbol : CMT4B2;

CISMeF acronym : CMT4B2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2; Charcot-marie-tooth neuropathy, type 4b2;

Included titles and symbols : Charcot-marie-tooth disease, type 4b2, with early-onset glaucoma; Charcot-marie-tooth neuropathy, type 4b2, with early-onset glaucoma;

Description : Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the set-binding factor-2 gene (SBF2, 607697.0001);

Prefixed ID : #604563;

Details

Origin ID

604563;

UMLS CUI

C1858278;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4B2 [ICD-11 More detail]
- Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma [MeSH concept]
- Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma [MeSH Supplementary Concept]
- Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma [MeSH concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4B2 [DO Concept]
- Charcot-Marie-Tooth disease type 4B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4B2 [MeSH concept]
- Charcot-Marie-Tooth disease, type 4B2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4B2 [DO Concept]
Genes related to phenotype
- Set-binding factor 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Difficulty walking [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]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Glaucoma [HPO term]
- Hammertoe [HPO term]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Onion bulb formation [HPO term]
- Pes cavus [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Sensorineural hearing impairment [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Talipes equinovarus [HPO term]
- Thin myelin sheaths [HPO term]
- Ulnar claw [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4B2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4B2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B2 [DO Concept]
- Charcot-Marie-Tooth disease type 4B2 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4B2 [MeSH concept]
- Charcot-Marie-Tooth disease, type 4B2 [MeSH Supplementary Concept]

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