Charcot-marie-tooth disease, recessive intermediate C

Preferred Label : Charcot-marie-tooth disease, recessive intermediate C;

Symbol : CMTRIC;

CISMeF acronym : CMTRIC; RI-CMTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, recessive intermediate C; RI-CMTC;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pleckstrin homology domain-containing protein, family G, member 5 gene (PLEKHG5, 611101.0002);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #615376;

Details

Origin ID

615376;

UMLS CUI

C3809309;

Automatic exact mappings (from CISMeF team)
- PLEKHG5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) [SNOMED CT concept]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Charcot-Marie-Tooth disease dominant intermediate C [DO Concept]
- Charcot-Marie-Tooth disease recessive intermediate C [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH Supplementary Concept]
- Dominant intermediate Charcot-Marie-Tooth disease type C [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease recessive intermediate C [DO Concept]
Genes related to phenotype
- Pleckstrin homology domain- and rhogef domain-containing protein g5 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Hammertoe [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Somatic sensory dysfunction [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease recessive intermediate C [DO Concept]

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