MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5

General Information (adopted from Orphanet):

Synonyms, Signs: MC3DN5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 615160
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001987) Hyperammonemia 50 / 7739
2
 (HPO:0001943) Hypoglycemia 131 / 7739
3
 (HPO:0001942) Metabolic acidosis 81 / 7739
4
 (HPO:0003542) Increased serum pyruvate 18 / 7739
5
 (HPO:0002151) Increased serum lactate 92 / 7739
6
 (OMIM) Decreased mitochondrial complex III activity 3 / 7739
7
 (OMIM) Cognitive impairment, mild 15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Miyake et al. (2013) reported 3 affected individuals from a large consanguineous Mexican kindred with mitochondrial complex III deficiency nuclear type 5. The patients had neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia. Physical signs ...
Molecular genetics OMIM In 3 affected individuals from a large consanguineous Mexican kindred with mitochondrial complex III deficiency nuclear type 5, Miyake et al. (2013) identified a homozygous mutation in the UQCRC2 gene (R183W; 191329.0001). Structural analysis indicated that the substitution ...