Charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia

Preferred Label : Charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia;

Symbol : CMTX4;

CISMeF acronym : CMTX4; COWCK; NADMR; NAMSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NADMR; Charcot-marie-tooth disease with deafness and mental retardation; NAMSD; Neuropathy, axonal motor-sensory, with deafness and mental retardation; Cowchock syndrome; COWCK;

Description : Cowchock syndrome (COWCK) is an X-linked recessive neuromuscular disorder characterized by early childhood onset of a slowly progressive axonal sensorimotor neuropathy associated in some patients with sensorineural deafness and cognitive impairment (summary by Rinaldi et al., 2012).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (AIFM1, 300169.0002);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum transaminases;

Prefixed ID : #310490;

Details

Origin ID

310490;

UMLS CUI

C0795910;

Automatic exact mappings (from CISMeF team)
- AIFM1 wt Allele [NCIt concept]
- apoptosis inducing factor mitochondria associated 1 [ORDO Gene]
- apoptosis inducing factor mitochondria associated 1 [HGNC gene]
- symbol withdrawn NAMSD [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked recessive 4 [DO Concept]
- Cowchock syndrome [MeSH concept]
- X-linked Charcot-Marie-Tooth disease type 4 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]
- cowchock syndrome [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease X-linked recessive 4 [DO Concept]
Genes related to phenotype
- Apoptosis-inducing factor, mitochondria-associated, 1 [OMIM gene]
HPO term(s)
- Cognitive impairment [HPO term]
- Deafness [HPO term]
- Distal sensory impairment [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Motor axonal neuropathy [HPO term]
- Muscle weakness [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Sensory neuropathy [HPO term]
- Type ii motor-sensory neuropathy [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cowchock syndrome [MeSH concept]
- X-linked Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]
- cowchock syndrome [MeSH Supplementary Concept]

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