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

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

Symbol : CMT1C;

CISMeF acronym : CMT1C; HMSN1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSN1C; Neuropathy, hereditary motor and sensory, type ic; Charcot-marie-tooth neuropathy, type 1c; Cmt, slow nerve Conduction type C; Hmsn ic;

Description : For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lipopolysaccharide-induced tumor necrosis factor-alpha factor gene (LITAF, 603795.0001);

Prefixed ID : #601098;

Details

Origin ID

601098;

UMLS CUI

C0270913;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 1C [ICD-11 More detail]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1C [DO Concept]
- Charcot-Marie-Tooth disease type 1C [ORDO Disease]
- Charcot-Marie-Tooth disease, Type 1C [MeSH concept]
- Charcot-Marie-Tooth disease, type 1C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type IC (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 1C [DO Concept]
Genes related to phenotype
- Lipopolysaccharide-induced tumor necrosis factor [OMIM gene]
HPO term(s)
- Autosomal dominant 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]
- Heterogeneous [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [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]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 1C [ORDO Disease]
- Charcot-Marie-Tooth disease type 1C [DO Concept]
- Charcot-Marie-Tooth disease, Type 1C [MeSH concept]
- Charcot-Marie-Tooth disease, type 1C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type IC (disorder) [SNOMED CT concept]
- charcot-marie-tooth disease, type ic [SNOMED Notion]

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