MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: MC3DN3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615158
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:0001942) Metabolic acidosis 81 / 7739
2
(HPO:0001943) Hypoglycemia 131 / 7739
3
(OMIM) Decreased mitochondrial complex III activity in liver and fibroblasts 1 / 7739
4
(OMIM) Normal psychomotor development 8 / 7739
5
(OMIM) Increased serum lactate during metabolic crisis 1 / 7739
6
(OMIM) Hepatomegaly, transient 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Haut et al. (2003) reported a Turkish girl, born of consanguineous parents, with complex III deficiency. She developed normally until 8 months of age when she presented with an episode of acute gastroenteritis. Laboratory investigations showed hypoglycemia, metabolic ...
Molecular genetics OMIM In a Turkish girl with complex III deficiency, Haut et al. (2003) identified a homozygous mutation in the UQCRB gene (191330.0001). Each unaffected parent was heterozygous for the mutation.