Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 39 |
| OrphanetNr: | 3390 |
| OMIM Id: |
560000
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| ICD-10: |
Q87.8 |
| 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: | No data available. |
| Inheritance: |
Mitochondrial inheritance [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000114) | Proximal tubulopathy | 18 / 7739 | ||||
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(HPO:0000103) | Polyuria | 60 / 7739 | ||||
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(HPO:0000124) | Renal tubular dysfunction | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000512) | Abnormal electroretinogram | Occasional [Orphanet] | 61 / 7739 | |||
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(HPO:0000597) | Ophthalmoparesis | 71 / 7739 | ||||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0007702) | Pigmentary retinal deposits | 5 / 7739 | ||||
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(HPO:0000550) | Undetectable electroretinogram | 25 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0002376) | Developmental regression | 74 / 7739 | ||||
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(HPO:0001336) | Myoclonus | 115 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0100651) | Type I diabetes mellitus | Frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0002748) | Rickets | 41 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0007511) | Mottled pigmentation of photoexposed areas | 1 / 7739 | ||||
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(HPO:0007610) | Blotching pigmentation of the skin | 3 / 7739 | ||||
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(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001944) | Dehydration | 59 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001427) | Mitochondrial inheritance | 12 / 7739 | ||||
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(OMIM) | Episodic cold-triggered erythrocyanosis of toes and fingers | 1 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 | |||
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(OMIM) | Heteroplasmic partial duplication of mtDNA | 1 / 7739 | ||||
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(OMIM) | Urinary loss of potassium, sodium, calcium, and chloride | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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