ORPHA:238329
Severe X-linked mitochondrial encephalomyopathy
Synonyms: Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe X-linked mitochondrial encephalomyopathy | Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 |
| fr | Encéphalomyopathie mitochondriale sévère liée à l'X | Encéphalomyopathie mitochondriale due à COXPD6 · Encéphalomyopathie mitochondriale due à un déficit combiné de la phosphorylation oxydative de type 6 |
| de | Enzephalomyopathie, mitochondriale, schwere, X-chromosomale | COXPD6 · Enzephalomyopathie, mitochondriale, durch COXPD6 · Enzephalomyopathie, mitochondriale, durch kombinierten Defekt der oxidativen Phosphorylierung Typ 6 |
| es | Encefalomiopatía mitocondrial grave ligada al cromosoma X | Encefalomiopatía mitocondrial por COXPD6 · Encefalomiopatía mitocondrial por deficiencia combinada de la fosforilación oxidativa tipo 6 |
| it | Encefalomiopatia mitocondriale grave legata all'X | Encefalomiopatia mitocondriale da COXPD6 · Encefalomiopatia mitocondriale da difetto combinato della fosforilazione ossidativa 6 |
| nl | Ernstige X-gebonden mitochondriale encefalomyopathie | Mitochondriale encefalomyopathie door COXPD6 · Mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6 |
| pt | Encefalomiopatia mitocondrial grave ligada ao X | |
| pl | Ciężka encefalomiopatia mitochondrialna sprzężona z chromosomem X | Encefalopatia mitochondrialna spowodowana COXPD6 · Encefalomiopatia mitochondrialna spowodowana złożonym defektem fosforylacji oksydacyjne 6 |
| cs | Těžká X-vázaná mitochondriální encefalomyopatie | Mitochondriální encefalomyopatie kombinovaným deficitem oxidativní fosforylace 6 · Mitochondriální encefalomyopatie způsobená COXPD6 |
| uk | Тяжка Х-зчеплена мітохондріальна енцефаломіопатія | Мітохондріальна енцефаломіопатія внаслідок комбінованого дефекту окисного фосфорилювання 6 · Мітохондріальна енцефаломіопатія, спричинена COXPD6 |
| zh | 重症X连锁线粒体脑肌病 | 联合氧化磷酸化缺陷6型所致重症X连锁线粒体脑肌病 |
| tr | Ağır X'e bağlı mitokondriyal ensefalomiyopati | COXPD6'ya bağlı mitokondriyal ensefalomiyopati · Kombine oksidatif fosforilasyon defekti 6'ya bağlı mitokondriyal ensefalomiyopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300816 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 0010437 | E | validated | |
| UMLS | C4302745 | 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 (3):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
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 |
|---|---|---|---|---|---|---|---|---|
| AIFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8768 | ENSG00000156709 | 300169 | Xq26.1 | apoptosis inducing factor mitochondria associated 1 | 20362274[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20362274[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 20362274[PMID] |
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
23 annotations · validated 2017-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0001284 | Areflexia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0002376 | Developmental regression | |
| HP:0002375 | Hypokinesia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0009025 | Increased connective tissue | |
| HP:0004305 | Involuntary movements | |
| HP:0000737 | Irritability | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001308 | Tongue fasciculations | |
| Occasional (29-5%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20362274[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238329
- This record as JSON: /data/d/238329.json