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

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

Symbol : CMT4K;

CISMeF acronym : CMT4K;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the surfeit 1 gene (SURF1, 185620.0016);

Laboratory abnormalities : Increased serum lactate;

Prefixed ID : #616684;

Details

Origin ID

616684;

UMLS CUI

C4225246;

CISMeF manual mappings
- Charcot-Marie-Tooth disease type 4K [DO Concept]
- SURF1-related Charcot-Marie-Tooth disease type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 4K [DO Concept]
Genes related to phenotype
- Surfeit 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Difficulty walking [HPO term]
- Dystonia [HPO term]
- Easy fatigability [HPO term]
- Hearing impairment [HPO term]
- Horizontal nystagmus [HPO term]
- Increased serum lactate [HPO term]
- Kyphoscoliosis [HPO term]
- Peripheral demyelination [HPO term]
- Peripheral neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- SURF1-related Charcot-Marie-Tooth disease type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4K [DO Concept]
- SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) [SNOMED CT concept]
- SURF1-related Charcot-Marie-Tooth disease type 4 [ORDO Disease]

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