Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Synonyms: mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy |
| fr | Déplétion de l'ADN mitochondrial, forme encéphalomyopathique avec tubulopathie rénale | Déplétion de l'ADNmt, forme encéphalomyopathique avec tubulopathie rénale |
| de | Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie | mtDNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie |
| es | Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con tubulopatía renal | Síndrome de depleción del ADNmt, forma encefalomiopática con tubulopatía renal |
| it | Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con tubulopatia renale | Sindrome da deplezione del mtDNA, forma encefalomiopatica con tubulopatia renale |
| nl | Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met renale tubulopathie | mtDNA-depletiesyndroom, encefalomyopathische vorm met renale tubulopathie |
| pt | Síndrome de depleção de ADN mitocondrial, forma encefalomiopática com tubulopatia renal | Síndrome de depleção de ADNmt, forma encefalomiopática com tubulopatia renal |
| pl | Zespół deplecji mitochondrialnego DNA, postać encefalomiopatyczna z tubulopatią | Zespół deplecji mtDNA, postać encefalomiopatyczna z tubulopatią |
| cs | Syndrom mitochondriální deplece DNA, encefalomyopatická forma s renální tubulopatií | Syndrom deplece mtDNA, encefalomyopatická forma s renální tubulopatií |
| uk | Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма з нирковою тубулопатією | Синдром виснаження мтДНК, енцефаломіопатична форма з нирковою тубулопатією |
| zh | 脑肌病型线粒体DNA缺失综合征伴肾小管病变 | 脑肌病型线粒体DNA缺失综合征伴肾小管病变 |
| tr | Mitokondriyal DNA tükenme sendromu, renal tübülopati ile seyreden ensefalomiyopatik form | mtDNA tükenme sendromu, böbrek tübülopatili ensefalomiyopatik form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612075 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0012792 | E | validated | |
| UMLS | C2749861 | E | validated | |
| GARD | 13200 | 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 (2):
- ORPHA:254803Mitochondrial DNA depletion syndrome, encephalomyopathic form
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RRM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:17296 | ENSG00000048392 | 604712 | 8q22.3 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 24741716[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 17486094[PMID]_19138848[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17486094[PMID]_19138848[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/255235
- This record as JSON: /data/d/255235.json