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

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

Symbol : CMT1F;

CISMeF acronym : CMT1F;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 1f;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the neurofilament light chain gene (NEFL, 162280.0003);

Prefixed ID : #607734;

Détails

Origin ID

607734;

UMLS CUI

C1843164;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 1F [ICD-11 More detail]
- NEFL wt Allele [NCIt concept]
- neurofilament light chain [ORDO Gene]
- neurofilament light chain [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1F [DO Concept]
- Charcot-Marie-Tooth disease type 1F [ORDO Disease]
- Charcot-Marie-Tooth disease type IF (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 1F [MeSH concept]
- Charcot-Marie-Tooth disease, type 1F [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 1F [DO Concept]
Genes related to phenotype
- Neurofilament protein, light polypeptide [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clusters of axonal 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]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Motor delay [HPO term]
- Myelin outfoldings [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]
- Variable expressivity [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 1F [ORDO Disease]
- Charcot-Marie-Tooth disease type 2B5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 1F [ORDO Disease]
- Charcot-Marie-Tooth disease type 1F [DO Concept]
- Charcot-Marie-Tooth disease type IF (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 1F [MeSH concept]
- Charcot-Marie-Tooth disease, type 1F [MeSH Supplementary Concept]

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