MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE
MC5DN3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614053
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:0003535) 3-Methylglutaconic aciduria 10 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0009830) Peripheral neuropathy 206 / 7739
4
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
5
(HPO:0011925) Decreased activity of mitochondrial ATP synthase complex 20566710 IBIS 10 / 7739
6
(HPO:0003128) Lactic acidosis 116 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mayr et al. (2010) described a 22-year-old Austrian woman (P3), previously reported by Cizkova et al. (2008), with a history of neonatal-onset lactic acidosis, 3-methylglutaconic aciduria, mild mental retardation, hypertrophic cardiomyopathy, and peripheral neuropathy. Fibroblasts showed a 60 ...
Molecular genetics OMIM In an Austrian woman with ATP synthase deficiency in whom mutation in the TMEM70 gene (612418) had been excluded (Cizkova et al., 2008), Mayr et al. (2010) identified a homozygous tyr12-to-cys (Y12C) mutation in the ATP5E gene (606153.0001). ...