Multiple mitochondrial dysfunctions syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial dysfunctions syndrome | |
| fr | Syndrome de dysfonctionnements mitochondriaux multiples | |
| de | Syndrom der multiplen mitochondrialen Dysfunktionen | |
| es | Síndrome de disfunción mitocondrial múltiple | |
| it | Sindrome da disfunzione mitocondriale multipla | |
| nl | Multipele mitochondriale disfuncties-syndroom | |
| pt | Síndrome de disfunção mitocondrial múltipla, fatal | |
| pl | Śmiertelny zespół mnogich dysfunkcji mitochondrialnych | |
| cs | Syndrom fatálních mnohočetných mitochondriálních dysfunkcí | |
| uk | Синдром множинних мітохондріальних дисфункцій | |
| zh | 多发性线粒体功能障碍综合征 | |
| tr | Çoklu mitokondriyal disfonksiyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017338 | E | validated | |
| MONDO | 17338 | E | validated | |
| MeSH | C565304 | E | validated | |
| UMLS | C3502075 | E | validated | |
| GARD | 12632 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases - 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
Children (6):
- ORPHA:401869Multiple mitochondrial dysfunctions syndrome type 1
- ORPHA:401874Multiple mitochondrial dysfunctions syndrome type 2
- ORPHA:363424Multiple mitochondrial dysfunctions syndrome type 3
- ORPHA:457406Multiple mitochondrial dysfunctions syndrome type 4
- ORPHA:569274Multiple mitochondrial dysfunctions syndrome type 5
- ORPHA:569290Multiple mitochondrial dysfunctions syndrome type 6
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289573
- This record as JSON: /data/d/289573.json