Isolated ATP synthase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Isolated mitochondrial respiratory chain complex V deficiency
Number of Symptoms 17
OrphanetNr: 254913
OMIM Id: 604273
614053
615228
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated oxidative phosphorylation complex disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0003535) 3-Methylglutaconic aciduria 10 / 7739
4
 (HPO:0000426) Prominent nasal bridge 121 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000278) Retrognathia 100 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0002240) Hepatomegaly 467 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
14
 (HPO:0002151) Increased serum lactate 92 / 7739
15
 (HPO:0003128) Lactic acidosis 116 / 7739
16
 (HPO:0001987) Hyperammonemia 50 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: