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

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

Symbol : CMT4H;

CISMeF acronym : CMT4H;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FYVE, RhoGEF, and PH domain-containing protein-4 gene (FGD4, 611104.0001);

Prefixed ID : #609311;

Details

Origin ID

609311;

UMLS CUI

C1836336;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4H [ICD-11 More detail]
- FGD4 wt Allele [NCIt concept]
- FYVE, RhoGEF and PH domain containing 4 [ORDO Gene]
- FYVE, RhoGEF and PH domain containing 4 [HGNC gene]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4H [DO Concept]
- Charcot-Marie-Tooth disease type 4H [ORDO Disease]
- Charcot-Marie-Tooth disease type 4H (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4H [MeSH concept]
- Charcot-Marie-Tooth disease, type 4H [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4H [DO Concept]
Genes related to phenotype
- Fyve, rhogef, and ph domain-containing protein 4 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Demyelination [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal lower limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal sensory impairment [HPO term]
- Hypoesthesia [HPO term]
- Hyporeflexia [HPO term]
- Motor delay [HPO term]
- Onion bulb formation [HPO term]
- Peripheral hypomyelination [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Small hypothenar eminence [HPO term]
- Small thenar eminence [HPO term]
- Talipes equinovarus [HPO term]
- Unsteady gait [HPO term]
- Upper limb muscle weakness [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4H [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4H [ORDO Disease]
- Charcot-Marie-Tooth disease type 4H [DO Concept]
- Charcot-Marie-Tooth disease type 4H (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4H [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4H [MeSH concept]

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