Multiple mitochondrial dysfunctions syndrome type 1
Synonyms: MMDS1 · NFU1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial dysfunctions syndrome type 1 | MMDS1 · NFU1 deficiency |
| fr | Syndrome de dysfonctionnements mitochondriaux multiples type 1 | Déficit en NFU1 |
| de | Syndrom der multiplen mitochondrialen Dysfunktionen Typ 1 | NFU1-Mangel |
| es | Síndrome de disfunción mitocondrial múltiple tipo 1 | Deficiencia de NFU1 |
| it | Sindrome da disfunzione mitocondriale multipla tipo 1 | Deficit di NFU1 |
| nl | Multipele mitochondriale disfuncties-syndroom type 1 | NFU1-deficiëntie |
| pt | Síndrome de disfunção mitocondrial múltipla, forma fatal tipo 1 | |
| pl | Zespół śmiertelnej mnogiej dysfunkcji mitochondriów typu 1 | Niedobór NFU1 |
| cs | Syndrom fatálních mnohočetných mitochondriálních dysfunkcí, typ 1 | Deficit NFU1 |
| uk | Синдром множинних мітохондріальних дисфункцій, тип 1 | MMDS1 · Дефіцит NFU1 |
| zh | 多发性线粒体功能障碍综合征1型 | NFU1缺陷 |
| tr | Çoklu mitokondriyal disfonksiyon sendromu tip 1 | MMDS1 · NFU1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605711 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | attributed | validated |
| MONDO | 0011582 | E | validated | |
| UMLS | C3276432 | 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 (1):
- ORPHA:289573Multiple mitochondrial dysfunctions syndrome
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFU1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16287 | ENSG00000169599 | 608100 | 2p13.3 | NFU1 iron-sulfur cluster scaffold | 24334290[PMID]_24777537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 24777537[PMID]_22077971[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24777537[PMID]_22077971[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.
HPO phenotypes
24 annotations · validated 2026-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008972 | Decreased activity of mitochondrial respiratory chain | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0002376 | Developmental regression | |
| HP:0001298 | Encephalopathy | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0002154 | Hyperglycinemia | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0002092 | Pulmonary arterial hypertension | |
| Occasional (29-5%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0034353 | Appendicular spasticity | |
| HP:0001662 | Bradycardia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0003150 | Glutaric aciduria | |
| HP:0003108 | Hyperglycinuria | |
| HP:0001276 | Hypertonia | |
| HP:0500230 | Increased CSF glycine concentration | |
| HP:0002490 | Increased CSF lactate | |
| HP:0003648 | Lacticaciduria | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
Annotation source: 25918518[PMID]_25477904[PMID]_29441221[PMID]_34440194[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401869
- This record as JSON: /data/d/401869.json