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Isolated ATP synthase deficiency
3 OMIM references -
4 associated genes
69 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
ADULT syndrome
Anaplastic ependymoma
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Constitutional mismatch repair deficiency syndrome
EEC syndrome
Fibronectin glomerulopathy
Hereditary nonpolyposis colon cancer
Herpetic encephalitis
Intermittent hydrarthrosis
Leber congenital amaurosis
Limb-mammary syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Senior-Loken syndrome
Split hand-split foot malformation
TRAPS syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
17p13.3 microduplication syndrome
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adrenocortical carcinoma
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
B-cell chronic lymphocytic leukemia
Colobomatous microphthalmia
Combined immunodeficiency due to STK4 deficiency
Common variable immunodeficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Dedifferentiated liposarcoma
Distal 17p13.3 microdeletion syndrome
Essential thrombocythemia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial pancreatic carcinoma
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to liver phosphorylase kinase deficiency
Isolated anophthalmia - microphthalmia
Li-Fraumeni syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Miller-Dieker syndrome
Papilloma of choroid plexus
Peripheral primitive neuroectodermal tumor
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Well-differentiated liposarcoma
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Acyl-CoA dehydrogenase 9 deficiency
Isolated NADH-CoQ reductase deficiency
Isolated CoQ-cytochrome C reductase deficiency
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Synonym(s):
- Isolated mitochondrial respiratory chain complex V deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP5A1 P25705164360
ATP5E P56381606153
ATPAF1 Q5TC12608917
ATPAF2 Q8N5M1608918
No signs/symptoms info available.