Multiple mitochondrial dysfunctions syndrome type 3
Synonyms: IBA57 deficiency · MMDS3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial dysfunctions syndrome type 3 | IBA57 deficiency · MMDS3 |
| fr | Syndrome de dysfonctionnements mitochondriaux multiples type 3 | Déficit en IBA57 |
| de | Syndrom der multiplen mitochondrialen Dysfunktionen Typ 3 | IBA57-Mangel |
| es | Síndrome de disfunción mitocondrial múltiple tipo 3 | Deficiencia en IBA57 |
| it | Sindrome da disfunzioni mitocondriali multiple tipo 3 | Deficit di IBA57 · Sindrome da disfunzione mitocondriale multipla letale, tipo 3 |
| nl | Multipele mitochondriale disfuncties-syndroom type 3 | IBA57-deficiëntie |
| pt | Síndrome de hipotonia atrofia cerebral - hiperglicinémia | |
| pl | Zespół hipotonii, atrofii mózgu i hiperglicynemii | Śmiertelny zespół złożonej dysfunkcji mitochondrialnej typu 3 · Wrodzone zaburzenie glikozylacji typu IIm |
| cs | Syndrom fatální mnohočetné mitochondriální dysfunkce, typ 3 | Deficit IBA57 |
| uk | Синдром множинної мітохондріальної дисфункції, тип 3 | Дефіцит IBA57 · MMDS3 |
| zh | 多发性线粒体功能障碍综合征3型 | IBA57缺乏 |
| tr | Çoklu mitokondriyal disfonksiyon sendromu tip 3 | MMDS3 · IBA57 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615330 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014132 | E | validated | |
| UMLS | C3809165 | 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 |
|---|---|---|---|---|---|---|---|---|
| IBA57 | Disease-causing germline mutation(s) in | Assessed | HGNC:27302 | ENSG00000181873 | 615316 | 1q42.13 | iron-sulfur cluster assembly factor IBA57 | 23462291[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23462291[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
31 annotations · validated 2026-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002376 | Developmental regression | |
| HP:0001252 | Hypotonia | |
| Frequent (79-30%) | ||
| HP:0033369 | Cavitating leukodystrophy | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0008314 | Decreased activity of mitochondrial complex II | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0002154 | Hyperglycinemia | |
| HP:0500230 | Increased CSF glycine concentration | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0034392 | Joint contracture | |
| HP:0002415 | Leukodystrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0030891 | Periventricular white matter hyperintensities | |
| HP:0001561 | Polyhydramnios | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0033725 | Thin corpus callosum | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0003128 | Lactic acidosis | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0002126 | Polymicrogyria | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34440194[PMID]_36360281[PMID]_38923322[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363424
- This record as JSON: /data/d/363424.json