Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Synonyms: mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
| fr | Syndrome de déplétion de l'ADN mitochondrial, forme encéphalomyopathique avec anomalies craniofaciales variables | Syndrome de déplétion de l'ADNmt, forme encéphalomyopathique avec anomalies craniofaciales variables |
| de | Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien | mtDNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien |
| es | Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con anomalías craneofaciales variables | Síndrome de depleción del ADNmt, forma encefalomiopática con anomalías craneofaciales variables |
| it | Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con anomalie craniofacciali variabili | Sindrome da deplezione del mtDNA , forma encefalomiopatica con anomalie craniofacciali variabili |
| nl | Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met variabele craniofaciale anomalieën | mtDNA-depletiesyndroom, encefalomyopathische vorm met variabele craniofaciale anomalieën |
| pt | Síndrome de depleção do ADN mitocondrial, forma encefalomiopática com anomalias craniofaciais variáveis | Síndrome de depleção do ADNmt, forma encefalomiopática com anomalias craniofaciais variáveis |
| pl | Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna ze zróżnicowanymi wadami twarzoczaszki | Zespół deplecji mtDNA, postać encefalomiopatyczna ze zróżnicowanymi wadami twarzoczaszki |
| cs | Syndrom deplece mitochondriální DNA, encefalomyopatická forma s variabilními kraniofaciálními anomáliemi | Syndrom deplece mtDNA, encefalomyopatická forma s variabilními kraniofaciálními anomáliemi |
| uk | Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма з варіабельними черепно-лицьовими аномаліями | Синдром виснаження мтДНК, енцефаломіопатична форма з варіабельними черепно-лицьовими аномаліями |
| zh | 线粒体DNA耗竭综合征脑肌病型伴多种颅面异常 | mtDNA耗竭综合征伴脑肌病型伴多种颅面异常 |
| tr | Mitokondriyal DNA tükenme sendromu, çeşitli kraniyofasiyal anomaliler ile seyreden ensefalomiyopatik form | Değişken kraniyofasyal anomaliler ile seyreden mtDNA deplesyon sendromu, ensefalomyopatik form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615471 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | attributed | validated |
| MONDO | 0014198 | E | validated | |
| UMLS | C5679913 | E | validated | |
| GARD | 13298 | 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:254803Mitochondrial DNA depletion syndrome, encephalomyopathic form
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 |
|---|---|---|---|---|---|---|---|---|
| FBXL4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13601 | ENSG00000112234 | 605654 | 6q16.1-q16.2 | F-box and leucine rich repeat protein 4 | 23993193[PMID]_23993194[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 23993193[PMID]_23993194[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369897
- This record as JSON: /data/d/369897.json