Charcot-marie-tooth disease, demyelinating, type 1a

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 1a;

Symbol : CMT1A;

CISMeF acronym : CMT1A; HMSN IA; HMSN1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSN IA; HMSN1A; Charcot-marie-tooth neuropathy, type 1a; Hereditary motor and sensory neuropathy ia; Charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 /- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al., 1991, 1992).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0001);

Prefixed ID : #118220;

Details

Origin ID

118220;

UMLS CUI

C0270911;

Currated CISMeF NLP mapping
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- charcot-marie-tooth disease, type ia [SNOMED Notion]
DO Cross reference
- Charcot-Marie-Tooth disease type 1A [DO Concept]
Genes related to phenotype
- Peripheral myelin protein 22 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cold-induced muscle cramps [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]
- Hammertoe [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Insidious onset [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Myelin outfoldings [HPO term]
- Onion bulb formation [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Slowly progressive [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Ulnar claw [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- charcot-marie-tooth disease, type ia [SNOMED Notion]

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