Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency |
| Number of Symptoms | 32 |
| OrphanetNr: | 329314 |
| OMIM Id: |
617070
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| ICD-10: |
G71.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases - PMID: 23043144 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 23043144 [IBIS] |
| Age of onset: |
Adult - PMID: 23043144 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Mitochondrial myopathy -Rare genetic disease -Rare neurologic disease Multiple mitochondrial DNA deletion syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002027) | Abdominal pain | 23043144 | IBIS | 184 / 7739 | ||
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(HPO:0000518) | Cataract | 23043144 | IBIS | 454 / 7739 | ||
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(HPO:0000590) | Progressive external ophthalmoplegia | 23043144 | IBIS | 23 / 7739 | ||
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(HPO:0000486) | Strabismus | 23043144 | IBIS | 576 / 7739 | ||
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(HPO:0000508) | Ptosis | 23043144 | IBIS | 459 / 7739 | ||
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(HPO:0001488) | Bilateral ptosis | 23043144 | IBIS | 42 / 7739 | ||
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(HPO:0001618) | Dysphonia | 23043144 | IBIS | 28 / 7739 | ||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 23043144 | IBIS | 214 / 7739 | ||
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(HPO:0003557) | Increased variability in muscle fiber diameter | 23043144 | IBIS | 24 / 7739 | ||
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(HPO:0003200) | Ragged-red muscle fibers | 23043144 | IBIS | 37 / 7739 | ||
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(HPO:0003693) | Distal amyotrophy | 23043144 | IBIS | 118 / 7739 | ||
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(HPO:0009055) | Generalized limb muscle atrophy | 23043144 | IBIS | 4 / 7739 | ||
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(HPO:0007126) | Proximal amyotrophy | 23043144 | IBIS | 29 / 7739 | ||
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(HPO:0002355) | Difficulty walking | 23043144 | IBIS | 61 / 7739 | ||
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(HPO:0003546) | Exercise intolerance | 23043144 | IBIS | 62 / 7739 | ||
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(HPO:0002380) | Fasciculations | 23043144 | IBIS | 42 / 7739 | ||
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(HPO:0001324) | Muscle weakness | 23043144 | IBIS | 859 / 7739 | ||
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(HPO:0003325) | Limb-girdle muscle weakness | 23043144 | IBIS | 22 / 7739 | ||
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(HPO:0003701) | Proximal muscle weakness | 23043144 | IBIS | 105 / 7739 | ||
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(HPO:0003738) | Exercise-induced myalgia | 23043144 | IBIS | 19 / 7739 | ||
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(HPO:0007078) | Decreased amplitude of sensory action potentials | 23043144 | IBIS | 5 / 7739 | ||
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(HPO:0000762) | Decreased nerve conduction velocity | 23043144 | IBIS | 36 / 7739 | ||
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(HPO:0001310) | Dysmetria | 23043144 | IBIS | 76 / 7739 | ||
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(HPO:0000716) | Depression | 23043144 | IBIS | 99 / 7739 | ||
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(HPO:0002354) | Memory impairment | 23043144 | IBIS | 63 / 7739 | ||
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(HPO:0002015) | Dysphagia | 23043144 | IBIS | 301 / 7739 | ||
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(HPO:0001315) | Reduced tendon reflexes | 23043144 | IBIS | 160 / 7739 | ||
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(HPO:0000171) | Microglossia | 23043144 | IBIS | 27 / 7739 | ||
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(HPO:0000407) | Sensorineural hearing impairment | 23043144 | IBIS | 524 / 7739 | ||
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(HPO:0005978) | Type II diabetes mellitus | 23043144 | IBIS | 68 / 7739 | ||
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(HPO:0002120) | Cerebral cortical atrophy | 23043144 | IBIS | 187 / 7739 | ||
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(HPO:0012157) | Subcortical cerebral atrophy | 23043144 | IBIS | 3 / 7739 |
Associated genes:
| DGUOK; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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