Multiple mitochondrial dysfunctions syndrome type 5
Synonyms: ISCA1 deficiency · MMDS5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial dysfunctions syndrome type 5 | ISCA1 deficiency · MMDS5 |
| fr | Syndrome de dysfonctionnements mitochondriaux multiples type 5 | Déficit en ISCA1 |
| de | Syndrom der multiplen mitochondrialen Dysfunktionen Typ 5 | ISCA1-Defizienz · ISCA1-Mangel · MMDS5 |
| es | Síndrome de disfunción mitocondrial múltiple tipo 5 | Deficiencia de ISCA1 · MMDS5 |
| it | Sindrome da disfunzioni mitocondriali multiple tipo 5 | MMDS5 · Deficit di ISCA1 |
| nl | Multipele mitochondriale disfuncties-syndroom type 5 | ISCA1-deficiëntie · MMDS5 |
| pt | Síndrome de disfunção mitocondrial múltipla tipo 5 | |
| pl | Zespół mnogich dysfunkcji mitochondrialnych, typu 5 | = en |
| cs | Syndrom mnohočetné mitochondriální dysfunkce, typ 5 | = en |
| uk | Синдром множинних мітохондріальних дисфункцій, тип 5 | Дефіцит ISCA1 · MMDS5 |
| zh | 多线粒体功能障碍综合征5型 | ISCA1基因缺陷 |
| tr | Çoklu mitokondriyal disfonksiyon sendromu tip 5 | MMDS5 · ISCA1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617613 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | attributed | validated |
| MONDO | 0033282 | E | validated | |
| UMLS | C4539919 | 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:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:289573Multiple mitochondrial dysfunctions syndrome
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ISCA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28660 | ENSG00000135070 | 611006 | 9q21.33 | iron-sulfur cluster assembly 1 | 28356563[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 29767723[PMID]_30105122[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29767723[PMID]_30105122[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
18 annotations · validated 2026-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001302 | Pachygyria | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002376 | Developmental regression | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0000365 | Hearing impairment | |
| HP:0001347 | Hyperreflexia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0002415 | Leukodystrophy | |
| Occasional (29-5%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0030215 | Inappropriate crying | |
| HP:0000639 | Nystagmus | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000253 | Progressive microcephaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30105122[PMID]_31580634[PMID]_34440194[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/569274
- This record as JSON: /data/d/569274.json