ORPHA:254913
Isolated ATP synthase deficiency
Synonyms: Isolated mitochondrial respiratory chain complex V deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated ATP synthase deficiency | Isolated mitochondrial respiratory chain complex V deficiency |
| fr | Déficit isolé en ATP synthase | Déficit isolé en complexe V de la chaîne respiratoire mitochondriale |
| de | ATP-Synthase-Mangel, isolierter | Isolierter mitochondrialer Atmungskettendefekt im Komplex V |
| es | Deficiencia aislada de ATP sintasa | Deficiencia aislada del complejo 5 de la cadena respiratoria mitocondrial · Deficiencia aislada del complejo V de la cadena respiratoria mitocondrial |
| it | Deficit isolato di ATP sintasi | Deficit isolato del complesso V della catena respiratoria mitocondriale |
| nl | Geïsoleerde ATP-synthasedeficiëntie | Geïsoleerde mitochondriale ademhalingsketencomplex V-deficiëntie |
| pt | Deficiência isolada da ATP sintetase | Deficiência isolada do complexo V da cadeia respiratória mitocondrial |
| pl | Izolowany niedobór syntazy ATP | Izolowany Niedobór kompleksu V mitochondrialnego łańcucha oddechowego |
| cs | Izolovaný deficit ATP syntázy | Izolovaný deficit komplexu V mitochondriálního dýchacího řetězce |
| uk | Ізольований дефіцит АТФ-синтази | Ізольований дефіцит V комплексу мітохондріального дихального ланцюга |
| zh | 孤立性ATP合酶缺乏症 | 孤立性线粒体呼吸链复合物V缺乏症 |
| tr | İzole ATP sentaz eksikliği | İzole mitokondriyal solunum zinciri kompleks V eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604273 | BTNT | validated | |
| OMIM | 614053 | BTNT | validated | |
| OMIM | 615228 | BTNT | validated | |
| OMIM | 618120 | BTNT | validated | |
| OMIM | 618683 | BTNT | validated | |
| OMIM | 620358 | BTNT | validated | |
| OMIM | 620359 | BTNT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.25 | E | specific | validated |
| MONDO | 0014471 | E | validated | |
| MONDO | 14471 | E | validated | |
| UMLS | C4757950 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254846Isolated oxidative phosphorylation complex disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP5F1A | Disease-causing germline mutation(s) in | Assessed | HGNC:823 | ENSG00000152234 | 164360 | 18q21.1 | ATP synthase F1 subunit alpha | 23599390[PMID] |
| ATP5F1D | Disease-causing germline mutation(s) in | Assessed | HGNC:837 | ENSG00000099624 | 603150 | 19p13.3 | ATP synthase F1 subunit delta | 29478781[PMID] |
| ATP5F1E | Disease-causing germline mutation(s) in | Assessed | HGNC:838 | ENSG00000124172 | 606153 | 20q13.32 | ATP synthase F1 subunit epsilon | 20566710[PMID] |
| ATP5MK | Disease-causing germline mutation(s) in | Assessed | HGNC:30889 | ENSG00000173915 | 615204 | 10q24.33 | ATP synthase membrane subunit k | 29917077[PMID] |
| ATP5PO | Disease-causing germline mutation(s) in | Assessed | HGNC:850 | ENSG00000241837 | 600828 | 21q22.11 | ATP synthase peripheral stalk subunit OSCP | 34954817[PMID]_35621276[PMID] |
| ATPAF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18802 | ENSG00000171953 | 608918 | 17p11.2 | ATP synthase mitochondrial F1 complex assembly factor 2 | 14757859[PMID] |
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | 21686774[PMID]_28412374[PMID] |
| MT-ATP8 | Disease-causing germline mutation(s) in | Assessed | HGNC:7415 | ENSG00000228253 | 516070 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 8 | 21686774[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
40 annotations · validated 2023-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001298 | Encephalopathy | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001987 | Hyperammonemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0003546 | Exercise intolerance | |
| HP:0002240 | Hepatomegaly | |
| HP:0000135 | Hypogonadism | |
| HP:0000821 | Hypothyroidism | |
| HP:0001254 | Lethargy | |
| HP:0000252 | Microcephaly | |
| HP:0032794 | Myoclonic seizure | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000508 | Ptosis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0001258 | Spastic paraplegia | |
| HP:0000486 | Strabismus | |
| HP:0002445 | Tetraplegia | |
| Very rare (<4-1%) | ||
| HP:0000602 | Ophthalmoplegia | |
Annotation source: 35330152[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254913
- This record as JSON: /data/d/254913.json