Multiple mitochondrial dysfunctions syndrome type 6
Synonyms: PMPCB deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple mitochondrial dysfunctions syndrome type 6 | PMPCB deficiency |
| fr | Syndrome de dysfonctionnements mitochondriaux multiples type 6 | Déficit en PMPCB |
| de | Syndrom der multiplen mitochondrialen Dysfunktionen Typ 6 | PMPCB-Defizienz · PMPCB-Mangel |
| es | Síndrome de disfunción mitocondrial múltiple tipo 6 | Deficiencia de PMPCB |
| it | Sindrome da disfunzioni mitocondriali multiple tipo 6 | Deficit di PMPCB |
| nl | Multipele mitochondriale disfuncties-syndroom type 6 | MMDS6 · PMPCB-deficiëntie |
| pt | Síndrome de disfunção mitocondrial múltipla tipo 6 | |
| pl | Zespół mnogich dysfunkcji mitochondrialnych, typu 6 | = en |
| cs | Syndrom mnohočetné mitochondriální dysfunkce, typ 6 | = en |
| uk | Синдром множинних мітохондріальних дисфункцій, тип 6 | Дефіцит PMPCB |
| zh | 多线粒体功能障碍综合征6型 | PMPCB基因缺陷 |
| tr | Çoklu mitokondriyal disfonksiyon sendromu tip 6 | PMPCB eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617954 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | attributed | validated |
| MONDO | 0054785 | E | validated | |
| UMLS | C4693741 | 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 |
|---|---|---|---|---|---|---|---|---|
| PMPCB | Disease-causing germline mutation(s) in | Assessed | HGNC:9119 | ENSG00000105819 | 603131 | 7q22.1 | peptidase, mitochondrial processing subunit beta | 29576218[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 29576218[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29576218[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/569290
- This record as JSON: /data/d/569290.json