Mitochondrial complex III deficiency, nuclear type 4

Preferred Label : Mitochondrial complex III deficiency, nuclear type 4;

Symbol : MC3DN4;

CISMeF acronym : MC3DN4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquinol-cytochrome c reductase-protein complex III subunit VII gene (UQCRQ, 612080.0001);

Laboratory abnormalities : Decreased mitochondrial complex III activity seen in muscle; Increased serum lactate;

Prefixed ID : #615159;

Details

Origin ID

615159;

UMLS CUI

C3554607;

Currated CISMeF NLP mapping
- mitochondrial complex III deficiency nuclear type 4 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 4 [DO Concept]
Genes related to phenotype
- Ubiquinol-cytochrome C reductase, complex III subunit VII [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Absent speech [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
ORDO concept(s)
- Isolated complex III deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex III deficiency nuclear type 4 [DO Concept]

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