Mitochondrial complex II deficiency, nuclear type 1

Preferred Label : Mitochondrial complex II deficiency, nuclear type 1;

Symbol : MC2DN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Succinate coq reductase deficiency; Succinate dehydrogenase deficiency;

Description : Complex II, also known as succinate dehydrogenase (EC 1.3.5.1), is part of the mitochondrial respiratory chain. Deficiency of complex II is characterized by highly variable phenotypic expression.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the succinate dehydrogenase complex, subunit D, integral membrane protein gene (SDHD, 602690.0029); Caused by mutation in the flavoprotein subunit of succinate dehydrogenase complex gene (SDHA, 600857.0001); Caused by mutation in the succinate dehydrogenase complex assembly factor 1 gene (SDHAF1, 612848.0001);

Laboratory abnormalities : Decreased activity of mitochondrial complex II (succinate dehydrogenase); Mildly increased serum lactate;

Prefixed ID : #252011;

Details

Origin ID

252011;

UMLS CUI

C5700310;

DO Cross reference
- mitochondrial complex II deficiency [DO Concept]
Genes related to phenotype
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
HPO term(s)
- Abnormal mitochondria in muscle tissue [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cognitive impairment [HPO term]
- Decreased activity of mitochondrial complex II [HPO term]
- Developmental regression [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dystonia [HPO term]
- Exercise intolerance [HPO term]
- Flexion contracture [HPO term]
- Hyperreflexia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Left ventricular noncompaction [HPO term]
- Leukoencephalopathy [HPO term]
- Mildly increased serum lactate [HPO term]
- Muscle weakness [HPO term]
- Myoclonus [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Progressive leukoencephalopathy [HPO term]
- Psychomotor regression in infants [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Stress/infection-induced lactic acidosis [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]
- mitochondrial complex II deficiency [MeSH concept]
Validated automatic mappings to NTBT
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Succinate Dehydrogenase Deficiency [NCIt concept]
- Succinate-coenzyme Q reductase deficiency (disorder) [SNOMED CT concept]
- complex II deficiency [Disease (Nov.)]
- mitochondrial complex II deficiency [DO Concept]
- mitochondrial complex II deficiency [MeSH concept]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]

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