Neuropathy, hereditary motor and sensory, russe type

Preferred Label : Neuropathy, hereditary motor and sensory, russe type;

Symbol : HMSNR;

CISMeF acronym : CMT4G; HMSNR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth disease, autosomal recessive, type 4g; CMT4G; Charcot-marie-tooth disease, demyelinating, type 4g; Charcot-marie-tooth neuropathy, type 4g; Hereditary motor and sensory neuropathy, russe type;

Description : For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hexokinase-1 gene (HK1, 142600.0003);

Prefixed ID : #605285;

Details

Origin ID

605285;

UMLS CUI

C1854449;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4G [ICD-11 More detail]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4G [DO Concept]
- Charcot-Marie-Tooth disease type 4G [ORDO Disease]
- Charcot-Marie-Tooth disease type 4G (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, Russe type [MeSH concept]
- neuropathy, hereditary motor and sensory, russe type [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4G [DO Concept]
Genes related to phenotype
- Hexokinase 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the hand [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal regeneration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Difficulty walking [HPO term]
- Distal muscle weakness [HPO term]
- Hyporeflexia [HPO term]
- Paralysis [HPO term]
- Peripheral hypomyelination [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 4G [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4G [ORDO Disease]
- Charcot-Marie-Tooth disease type 4G [DO Concept]
- Charcot-Marie-Tooth disease type 4G (disorder) [SNOMED CT concept]
- Neuropathy, hereditary motor and sensory, Russe type [MeSH concept]
- neuropathy, hereditary motor and sensory, russe type [MeSH Supplementary Concept]

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