ORPHA:1933
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Synonyms: Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome · mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Infancy
- Status
- active
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome · mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
| fr | Syndrome de déplétion de l'ADN mitochondrial forme encéphalomyopathique avec acidurie méthylmalonique | Syndrome d'encéphalomyopathie mitochondriale-aminoacidopathie · Syndrome de Booth-Haworth-Dilling · Syndrome de déplétion de l'ADNmt, forme encéphalomyopathique avec acidurie méthylmalonique |
| de | Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit Methylmalonazidurie | |
| es | Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con aciduria metilmalónica | Síndrome de Booth-Haworth-Dilling · Síndrome de depleción del ADNmt, forma encefalomiopática con aciduria metilmalónica · Síndrome de encefalomiopatía mitocondrial-aminoacidopatía |
| it | Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con aciduria metilmalonica | Encefalomiopatia mitocondriale - aminoacidopatia · Sindrome da deplezione del mtDNA, forma encefalomiopatica con aciduria metilmalonica · Sindrome di Booth-Haworth-Dilling |
| nl | Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met methylmalonacidurie | Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met methylmalonacidemie · Mitochondriaal DNA-depletiesyndroom, encefalomyopathische vorm met methylmalonzuuracidurie · Mitochondriale encefalomyopathie - aminoacidopathie-syndroom · Syndroom van Booth-Haworth-Dilling · mtDNA-depletiesyndroom, encefalomyopathische vorm met methylmalonacidemie · mtDNA-depletiesyndroom, encefalomyopathische vorm met methylmalonacidurie · mtDNA-depletiesyndroom, encefalomyopathische vorm met methylmalonzuuracidurie |
| pt | Síndrome de depleção do ADN mitocondrial, forma encefalomiopática com aciduria metilmalónica | Encefalomiopatia aminoacidopatia mitocondrial · Síndrome Booth-Haworth-Dilling · Síndrome de depleção do ADNmt, forma encéfalomiopática com acidúria metilmalónica |
| pl | Zespół deplecji mitochondrialnego DNA, forma z encefalomiopatią i kwasicą metylomalonową | Mitochondrialna encefalomiopatia - aminoacidopatia · Zespół Bootha, Hawortha i Dillinga · Zespół deplecji mtDNA, forma z encefalomiopatią i kwasicą metylomalonową |
| cs | Syndrom deplece mitochondriální DNA, encefalomyopatická forma s methylmalonovou acidurií | Syndrom zahrnující mitochondriální encefalomyopatii a aminoacidopatii · Syndrom mtDNA deplece, encefalomyopatická forma s methylmalonovou acidurií · Boothův-Haworthův-Dillingův syndrom · Booth-Haworth-Dillingův syndrom |
| uk | Синдром виснаження мітохондріальної ДНК, енцефаломіопатична форма з метилмалоновою ацидурією | Синдром Бута-Хауорта-Діллінга · Синдром мітохондріальної енцефаломіопатії-аміноацидопатії · Синдром виснаження мтДНК, енцефаломіопатична форма з метилмалоновою ацидурією |
| zh | 线粒体DNA耗竭综合征，脑肌病伴甲基丙二酸尿症型 | 线粒体脑肌病-氨基酸代谢病综合征 |
| tr | Mitokondriyal DNA deplesyon sendromu, metilmalonik asidüri ile ensefalomyopatik form | mtDNA tükenme sendromu, metilmalonik asidüri ile seyreden ensefalomiyopatik form · Booth-Haworth-Dilling sendromu · Mitokondriyal ensefalomiyopati-aminoasidopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612073 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0012791 | E | validated | |
| UMLS | C2749864 | E | validated | |
| GARD | 3681 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUCLA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11448 | ENSG00000136143 | 603921 | 13q14.2 | succinate-CoA ligase ADP-forming subunit beta | 17287286[PMID]_20301762[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2738799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2738799[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.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0003355 | Aminoaciduria | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0004326 | Cachexia | |
| HP:0002514 | Cerebral calcification | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002194 | Delayed gross motor development | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001263 | Global developmental delay | |
| HP:0001265 | Hyporeflexia | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0012120 | Methylmalonic aciduria | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1933
- This record as JSON: /data/d/1933.json