Charcot-marie-tooth disease, demyelinating, type 4f

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4f;

Symbol : CMT4F;

CISMeF acronym : CMT4F;

Type : Phenotype, molecular basis known;

Description : Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the periaxin gene (PRX, 605725.0005);

Prefixed ID : #614895;

Details

Origin ID

614895;

UMLS CUI

C3540453;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4F [DO Concept]
- Charcot-Marie-Tooth disease type 4F [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]
- Charcot-Marie-Tooth disease type 4F (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4F [DO Concept]
Genes related to phenotype
- Periaxin [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal lamina onion bulb formation [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Peripheral demyelination [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Sensory ataxia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Vocal cord paresis [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]
See also inter- (CISMeF)
- hereditary motor and sensory polyneuropathy type III [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4F [ORDO Disease]

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