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

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

Symbol : CMT2F;

CISMeF acronym : CMT2F;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2f; Charcot-marie-tooth disease, neuronal, type 2f;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heat-shock 27-kD protein (HSPB1, 602195.0001);

Prefixed ID : #606595;

Détails

Origin ID

606595;

UMLS CUI

C1847823;

Automatic exact mappings (from CISMeF team)
- HSPB1 wt Allele [NCIt concept]
- heat shock protein family B (small) member 1 [ORDO Gene]
- heat shock protein family B (small) member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2F [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2F [DO Concept]
- Charcot-Marie-Tooth disease, Type 2F [MeSH concept]
- Charcot-Marie-Tooth disease, type 2F [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2F [DO Concept]
Genes related to phenotype
- Heat-shock 27-kd protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic axonal neuropathy [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]
- Fasciculations [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Heterogeneous [HPO term]
- Hyporeflexia [HPO term]
- Muscle spasm [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Pes cavus [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
- Sural nerve biopsy shows chronic axonal neuropathy [HPO term]
- Ulnar claw [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2F [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2F [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 2F [MeSH concept]
- Charcot-Marie-Tooth disease, type 2F [MeSH Supplementary Concept]

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