ORPHA:1194
TMEM70-related mitochondrial encephalo-cardio-myopathy
Synonyms: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TMEM70-related mitochondrial encephalo-cardio-myopathy | Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency |
| fr | Encéphalo-cardio-myopathie mitochondriale associée à TMEM70 | Encéphalo-cardio-myopathie mitochondriale par déficit en F1Fo ATPase · Encéphalo-cardio-myopathie mitochondriale par déficit isolé en ATP synthase · Encéphalo-cardio-myopathie mitochondriale par déficit isolé en complexe V de la chaîne respiratoire |
| de | TMEM70-abhängige mitochondriale Enzephalokardiomyopathie | Enzephalokardiomyopathie durch isolierten mitochondrialen Atmungskettendefekt im Komplex V · Enzephalokardiomyopathie, mitochondriale, durch F1FO-ATPase-Mangel · Mitochondriale Enzephalokardiomyopathie durch isolierten ATP-Synthase-Mangel |
| es | Encefalo-cardio-miopatía mitocondrial asociada a TMEM70 | Encefalo-cardio-miopatía mitocondrial por deficiencia aislada de ATP sintasa · Encefalo-cardio-miopatía mitocondrial por deficiencia aislada del complejo V de la cadena respiratoria mitocondrial · Encefalo-cardio-miopatía mitocondrial por deficiencia de F1Fo ATPasa |
| it | Encefalocardiomiopatia mitocondriale TMEM70-correlato | Encefalocardiomiopatia mitocondriale da deficit del complesso V della catena respiratoria mitocondriale · Encefalocardiomiopatia mitocondriale da deficit di F1Fo ATPasi · Encefalocardiomiopatia mitocondriale da deficit isolato di ATP sintasi |
| nl | TMEM70-gerelateerde mitochondriale encefalocardiomyopathie | Mitochondriale encefalocardiomyopathie door F1Fo ATPase-deficiëntie · Mitochondriale encefalocardiomyopathie door geïsoleerde deficiëntie van ATP-synthase · Mitochondriale encefalocardiomyopathie door geïsoleerde deficiëntie van mitochondriale ademhalingsketen complex V |
| pt | Encefalo-miocardiopatia mitocondrial TMEM70-relacionada | Deficiência de complexo 5 da cadeia respiratória mitocondrial · Encefalo-miocardiopatia mitocondrial por deficiência isolada de ATP sintetase |
| pl | Mitochondrialna encefalo-kardio-miopatia zależna od TMEM70 | Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru F1Fo ATP-azy · Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru kompleksu V mitochondrialnego łańcucha oddechowego · Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru syntazy ATP |
| cs | TMEM70-vázaná mitochondriální encefalokardiomyopatie | Mitochondriální encefalokardiomyopatie způsobená deficitem F1Fo ATPázy · Mitochondriální encefalokardiomyopatie způsobená izolovaným deficitem ATP syntázy · Mitochondriální encefalokardiomyopatie způsobená izolovaným deficitem komplexu V mitochondriálního respiračního řetězce |
| uk | Мітохондріальна енцефало-кардіоміопатія, повязана з TMEM70 | Мітохондріальна енцефало-кардіоміопатія внаслідок дефіциту АТФ-ази F1Fo · Мітохондріальна енцефало-кардіоміопатія внаслідок ізольованого дефіциту АТФ-синтази · Мітохондріальна енцефало-кардіоміопатія внаслідок ізольованого дефіциту V комплексу мітохондріального дихального ланцюга |
| zh | TMEM70相关性线粒体脑肌病-心脏病 | 孤立型ATP合酶缺乏所致线粒体脑心肌病 |
| tr | TMEM70--ilişkili mitokondriyal ensefalo-kardiyo-miyopati | İzole mitokondriyal solunum zinciri kompleksi V eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati · F1Fo ATPase eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati · İzole ATP sentaz eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614052 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0013546 | E | validated | |
| UMLS | C4273660 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM70 | Disease-causing germline mutation(s) in | Assessed | HGNC:26050 | ENSG00000175606 | 612418 | 8q21.11 | transmembrane protein 70 | 21147908[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001987 | Hyperammonemia | |
| HP:0001252 | Hypotonia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001562 | Oligohydramnios | |
| HP:0000322 | Short philtrum | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001635 | Congestive heart failure | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0001371 | Flexion contracture | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002878 | Respiratory failure | |
| HP:0000278 | Retrognathia | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0011675 | Arrhythmia | |
| HP:0001250 | Seizure | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1194
- This record as JSON: /data/d/1194.json