ORPHA:352470
DNA2-related mitochondrial DNA deletion syndrome
Synonyms: Mitochondrial DNA deletion syndrome with limb-girdle weakness · Mitochondrial DNA deletion syndrome with progressive myopathy · mtDNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with progressive myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DNA2-related mitochondrial DNA deletion syndrome | Mitochondrial DNA deletion syndrome with limb-girdle weakness · Mitochondrial DNA deletion syndrome with progressive myopathy · mtDNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with progressive myopathy |
| fr | Syndrome de délétion de l'ADN mitochondrial associée à DNA2 | Syndrome de délétion de l'ADN mitochondrial avec faiblesse musculaire des ceintures · Syndrome de délétion de l'ADN mitochondrial avec myopathie progressive · Syndrome de délétion de l'ADNmt avec faiblesse musculaire des ceintures · Syndrome de délétion de l'ADNmt avec myopathie progressive |
| de | Mitochondriales DNA-Deletionssyndrom, DNA2-assoziiertes | Mitochondrial DNA-Deletionssyndrom mit Gliedergürtelschwäche · Mitochondriale DNA-Deletionssyndrom mit progressiver Myopathie · mtDNA-Deletionssyndrom mit Gliedergürtelschwäche · mtDNA-Deletionssyndrom mit progressiver Myopathie |
| es | Síndrome de deleción del ADN mitocondrial asociado al gen DNA2 | Síndrome de deleción del ADN mitocondrial con debilidad de cinturas y extremidades · Síndrome de deleción del ADN mitocondrial con miopatía progresiva · Síndrome de deleción del ADNmt con debilidad de cinturas y extremidades · Síndrome de deleción del ADNmt con miopatía progresiva |
| it | Sindrome da delezione del DNA mitocondriale correlata a DNA2 | |
| nl | DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom | Mitochondriaal DNA-deletiesyndroom met limb-girdle-zwakheid · Mitochondriaal DNA-deletiesyndroom met progressieve myopathie · mtDNA-deletiesyndroom met limb-girdle-zwakheid · mtDNA-deletiesyndroom met progressieve myopathie |
| pt | Síndrome de deleção do ADNmt DNA2-relacionada | Síndrome de deleção do ADN mitocondrial com fraqueza das cinturas dos membros · Síndrome de deleção do ADN mitocondrial com miopatia progressiva · Síndrome de deleção do ADNmt com fraqueza das cinturas dos membros · Síndrome de deleção do ADNmt com miopatia progressiva |
| pl | Zespół delecji mitochondrialnego DNA z postępującą miopatią | Zespół delecji mitochondrialnego DNA ze słabością obręczowo-kończynową · Zespół delecji mtDNA z postępującą miopatią · Zespół delecji mtDNA ze słabością obręczowo-kończynową |
| cs | Syndrom delece mitochondriální DNA s progresivní myopatií | Syndrom delece mitochondriální DNA s pletencovou slabostí · Syndrom delece mtDNA s pletencovou slabostí · Syndrom delece mtDNA s progresivní myopatií |
| uk | Синдром делеції мітохондріальної ДНК, повязаний з ДНК2 | Синдром делеції мітохондріальної ДНК зі слабкістю мязів кінцівок · Синдром делеції мітохондріальної ДНК з прогресуючою міопатією · Синдром делеції мтДНК зі слабкістю мязів кінцівок · Синдром делеції мтДНК з прогресуючою міопатією |
| zh | DNA2基因相关线粒体DNA缺失综合征 | mtDNA缺失综合征伴进行性肌病 |
| tr | DNA2-ilişkili mitokondriyal DNA delesyon sendromu | Ekstremite-kavşak tipi kas zayıflığı ile seyreden mtDNA delesyon sendromu · İlerleyici miyopatili mtDNA delesyon sendromu · Ekstremite kavşak tipi kas zayıflığı ile seyreden mitokondriyal DNA delesyon sendromu · İlerleyici miyopati ile seyreden mitokondriyal DNA delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615156 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | attributed | validated |
| MONDO | 0014062 | E | validated | |
| MONDO | 14062 | E | validated | |
| UMLS | C5192959 | 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:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254807Multiple mitochondrial DNA deletion syndrome
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2939 | ENSG00000138346 | 601810 | 10q21.3 | DNA replication helicase/nuclease 2 | 23352259[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23352259[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.
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HPO phenotypes
20 annotations · validated 2018-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| Frequent (79-30%) | ||
| HP:0007970 | Congenital ptosis | |
| HP:0004673 | Decreased facial expression | |
| HP:0001558 | Decreased fetal movement | |
| HP:0040013 | Decreased mitochondrial number | |
| HP:0000716 | Depression | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003391 | Gowers sign | |
| HP:0003307 | Hyperlordosis | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0002828 | Multiple joint contractures | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0001533 | Slender build | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23352259[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352470
- This record as JSON: /data/d/352470.json