ORPHA:329314
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Synonyms: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency |
| fr | Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK | Syndrome de délétions multiples de l'ADNmt de l'adulte par déficit en DGUOK |
| de | Multiples mitochondriales DNA-Deletionssyndrom durch DGUOK-Mangel des Erwachsenen | Multiples mtDNA-Deletionssyndrom durch DGUOK-Mangel mit Beginn im Erwachsenenalter |
| es | Síndrome de deleción múltiple del ADN mitocondrial por deficiencia de DGUOK de inicio en el adulto | Síndrome de deleción múltiple del ADNmt por deficiencia de DGUOK en el adulto |
| it | Sindrome da delezioni multiple del DNA mitocondriale da deficit di DGUOK a esordio nell'età adulta | Sindrome da delezioni multiple di mtDNA da deficit di DGUOK |
| nl | Meervoudig mitochondriaal DNA-deletiesyndroom door DGUOK-deficiëntie met aanvang op volwassen leeftijd | Meervoudig mtDNA-deletie syndroom door DGUOK-deficiëntie met aanvang op volwassen leeftijd |
| pt | Síndrome de deleções múltiplas do ADN mitocondrial por deficiência de DGUOK com início no adulto | Síndrome de deleções múltiplas do ADNmt por deficiência de DGUOK com início no adulto |
| pl | Zespół mnogich delecji mitochondrialnego DNA z powodu deficytu DGUOK o początku w wieku dorosłym | Zespół mnogich delecji mtDNA z powodu deficytu DGUOK o początku w wieku dorosłym |
| cs | Syndrom mnohočetné mitochondriální DNA delece se začátkem v dospělosti způsobený DGUOK deficitem | Syndrom mnohočetné mt DNA delece se začátkem v dospělosti způsobený DGUOK deficitem |
| uk | Синдром множинної делеції мітохондріальної ДНК у дорослих, зумовлений дефіцитом DGUOK | Синдром множинної делеції мтДНК у дорослих, спричинений дефіцитом DGUOK |
| zh | DGUOK缺陷致成人发病型多发性线粒体DNA缺失综合征 | DGUOK缺陷致成人发病型多发性mtDNA缺失综合征 |
| tr | DGUOK eksikliğine bağlı yetişkin başlangıçlı çoklu mitokondriyal DNA delesyon sendromu | DGUOK eksikliğine bağlı erişkin başlangıçlı çoklu mtDNA delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617070 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.21 | NTBT | attributed | validated |
| MONDO | 0014899 | E | validated | |
| UMLS | C4518838 | 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 (3):
- ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:254807Multiple mitochondrial DNA deletion syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
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 |
|---|---|---|---|---|---|---|---|---|
| DGUOK | Disease-causing germline mutation(s) in | Assessed | HGNC:2858 | ENSG00000114956 | 601465 | 2p13.1 | deoxyguanosine kinase | 23043144[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
21 annotations · validated 2019-01-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008615 | Adult onset sensorineural hearing impairment | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002015 | Dysphagia | |
| HP:0003797 | Limb-girdle muscle atrophy | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0003390 | Sensory axonal neuropathy | |
| Occasional (29-5%) | ||
| HP:0025406 | Asthenia | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0100543 | Cognitive impairment | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0001618 | Dysphonia | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0000648 | Optic atrophy | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0000486 | Strabismus | |
| HP:0003558 | Viral infection-induced rhabdomyolysis | |
Annotation source: 23043144[PMID]_27858775[PMID]_30283818[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329314
- This record as JSON: /data/d/329314.json