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

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

Symbol : CMT4J;

CISMeF acronym : CMT4J;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0001);

Prefixed ID : #611228;

Details

Origin ID

611228;

UMLS CUI

C1970011;

Automatic exact mappings (from CISMeF team)
- FIG4 phosphoinositide 5-phosphatase [ORDO Gene]
- FIG4 phosphoinositide 5-phosphatase [HGNC gene]
- FIG4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease Type 4J [NCIt concept]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-Marie-Tooth disease type 4J [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4J [DO Concept]
Genes related to phenotype
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Distal arthrogryposis [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Frequent falls [HPO term]
- Gait disturbance [HPO term]
- Hyporeflexia [HPO term]
- Motor delay [HPO term]
- Onion bulb formation [HPO term]
- Peripheral hypomyelination [HPO term]
- Progressive [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth Disease Type 4J [NCIt concept]
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-Marie-Tooth disease type 4J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH concept]

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