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

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

Symbol : CMT4C;

CISMeF acronym : CMT4C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c; Charcot-marie-tooth neuropathy, type 4c;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SH3 domain and tetratricopeptide repeat domain 2 gene (SH3TC2, 608206.0001);

Prefixed ID : #601596;

Details

Origin ID

601596;

UMLS CUI

C1866636;

Automatic exact mappings (from CISMeF team)
- SH3 domain and tetratricopeptide repeats 2 [ORDO Gene]
- SH3 domain and tetratricopeptide repeats 2 [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease Type 4C [NCIt concept]
- Charcot-Marie-Tooth disease type 4C [DO Concept]
- Charcot-Marie-Tooth disease type 4C [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
- Charcot-Marie-Tooth disease type 4C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4C [MeSH concept]
- Charcot-Marie-Tooth disease, type 4C [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4C [DO Concept]
Genes related to phenotype
- Sh3 domain and tetratricopeptide repeat domain 2 [OMIM gene]
HPO term(s)
- Abnormal cranial nerve morphology [HPO term]
- Abnormal pupillary light reflex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Basal lamina onion bulb formation [HPO term]
- Deafness [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Difficulty walking [HPO term]
- Distal amyotrophy [HPO term]
- Distal lower limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal lower limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Facial palsy [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal degeneration [HPO term]
- Pes cavus [HPO term]
- Prolonged brainstem auditory evoked potentials [HPO term]
- Scoliosis [HPO term]
- Segmental peripheral demyelination [HPO term]
- Tongue atrophy [HPO term]
- Tongue fasciculations [HPO term]
- Upper limb muscle weakness [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Disease Type 4C [NCIt concept]
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
- Charcot-Marie-Tooth disease type 4C [DO Concept]
- Charcot-Marie-Tooth disease type 4C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4C [MeSH concept]
- Charcot-Marie-Tooth disease, type 4C [MeSH Supplementary Concept]

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