Succinate Dehydrogenase Deficiency

Preferred Label : Succinate Dehydrogenase Deficiency;

NCIt synonyms : Succinate-Coenzyme Q Reductase Deficiency; SDH Deficiency; Deficiency of Complex II; Respiratory Complex II Deficiency; Mitochondrial Complex II Deficiency; SDHx Deficiency; Succinate-CoQ Reductase Deficiency; MC2D;

NCIt definition : An autosomal recessive condition characterized by decreased activity of the mitochondrial respiratory chain enzyme complex succinate dehydrogenase (SDH; mitochondrial complex II), which can be caused by loss of function mutation(s) in the any of the genes that encode subunits of SDH. The clinical presentation of this deficiency shows wide variation that ranges from isolated muscle weakness to multisystem symptoms involving the brain, heart and musculoskeletal system with complications such as encephalopathy. Additionally, this condition is associated with an increased risk for cancer because of increased levels of succinate.;

Details

Origin ID

C187258;

UMLS CUI

C1855008;

Automatic exact mappings (from CISMeF team)
- Decreased activity of mitochondrial complex II [HPO term]
- Isolated mitochondrial respiratory chain complex II deficiency [ICD-11 More detail]
- Succinate-coenzyme Q reductase deficiency (disorder) [SNOMED CT concept]
- mitochondrial complex II deficiency [MeSH concept]
- mitochondrial complex II deficiency [DO Concept]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Deficiency of succinate dehydrogenase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Succinate-coenzyme Q reductase deficiency (disorder) [SNOMED CT concept]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]
- mitochondrial complex II deficiency [MeSH concept]
Validated automatic mappings to BTNT
- Mitochondrial complex II deficiency, nuclear type 1 [OMIM Phenotype]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_may_have_molecular_abnormality
- SDH Complex Gene Mutation [NCIt concept]
related_to_genetic_biomarker
- SDHA Gene [NCIt concept]
- SDHAF2 Gene [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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