Charcot-marie-tooth disease, axonal, type 2b1

Preferred Label : Charcot-marie-tooth disease, axonal, type 2b1;

Symbol : CMT2B1;

CISMeF acronym : CMT2B1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, axonal, autosomal recessive, type 2b1; Charcot-marie-tooth neuropathy, type 2b1; Charcot-marie-tooth disease, neuronal, type 2b1;

Description : Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0020);

Prefixed ID : #605588;

Details

Origin ID

605588;

UMLS CUI

C1854154;

Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2B1 [DO Concept]
- Charcot-Marie-Tooth disease type 2B1 [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 2B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2B1 [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B1 [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2B1 [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [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]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Kyphoscoliosis [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Onion bulb formation [HPO term]
- Onset [HPO term]
- Peripheral axonal atrophy [HPO term]
- Pes cavus [HPO term]
- Proximal muscle involvement may occur [HPO term]
- Proximal muscle weakness [HPO term]
- Steppage gait [HPO term]
- Upper limb muscle weakness [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2B1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 2B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B1 [DO Concept]
- Charcot-Marie-Tooth disease type 2B1 (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2B1 [MeSH concept]
- Charcot-Marie-Tooth disease, type 2B1 [MeSH Supplementary Concept]

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