Mitochondrial complex III deficiency, nuclear type 1

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

Symbol : MC3DN1;

CISMeF acronym : MC3DN1;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). - Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; and MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver function tests; Aminoaciduria; Decreased respiratory chain complex III activity in multiple tissues;

Prefixed ID : #124000;

Details

Origin ID

124000;

UMLS CUI

C3541471;

Automatic exact mappings (from CISMeF team)
- Renal tubulopathy-encephalopathy-liver failure syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of mitochondrial complex III (disorder) [SNOMED CT concept]
- Isolated complex III deficiency [ORDO Disease]
- Ubiquinone dehydrogenase deficiency (disorder) [SNOMED CT concept]
- complex III deficiency [Disease (Nov.)]
- mitochondrial complex III deficiency [MeSH concept]
- mitochondrial complex III deficiency [MeSH Supplementary Concept]
- mitochondrial complex III deficiency nuclear type 1 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 1 [DO Concept]
Genes related to phenotype
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Aminoaciduria [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Brittle hair [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cholangitis [HPO term]
- Cholestasis [HPO term]
- Decreased liver function [HPO term]
- Decreased mitochondrial complex III activity in liver tissue [HPO term]
- Depression [HPO term]
- EEG abnormality [HPO term]
- Elevated hepatic transaminase [HPO term]
- Emotional lability [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hallucinations [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Metabolic acidosis [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Mitochondrial encephalopathy [HPO term]
- Mitochondrial inheritance [HPO term]
- Muscle weakness [HPO term]
- Ragged-red muscle fibers [HPO term]
- Rhabdomyolysis [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tubulointerstitial nephritis [HPO term]
ORDO concept(s)
- Isolated complex III deficiency [ORDO Disease]
- Renal tubulopathy-encephalopathy-liver failure syndrome [ORDO Disease]
See also inter- (CISMeF)
- Isolated mitochondrial respiratory chain complex III deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex III deficiency nuclear type 1 [DO Concept]

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