Primary hyperoxaluria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 29 |
| OrphanetNr: | 416 |
| OMIM Id: |
259900
260000 613616 |
| ICD-10: |
E74.8 |
| UMLs: |
C0020500 |
| MeSH: |
D006959 |
| MedDRA: |
10020703 |
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of glyoxylate metabolism
-Rare genetic disease Metabolic disease with pigmentary retinitis -Rare eye disease -Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
|
|
(HPO:0003159) | Hyperoxaluria | 6 / 7739 | ||||
|
|
(HPO:0000790) | Hematuria | 106 / 7739 | ||||
|
|
(HPO:0000121) | Nephrocalcinosis | 57 / 7739 | ||||
|
|
(HPO:0000787) | Nephrolithiasis | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0008672) | Calcium oxalate nephrolithiasis | 10 / 7739 | ||||
|
|
(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0000488) | Retinopathy | 75 / 7739 | ||||
|
|
(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
|
|
(HPO:0001138) | Optic neuropathy | 12 / 7739 | ||||
|
|
(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
|
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(HPO:0002756) | Pathologic fracture | 30 / 7739 | ||||
|
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(HPO:0002653) | Bone pain | 75 / 7739 | ||||
|
|
(HPO:0004599) | Absent or minimally ossified vertebral bodies | Occasional [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001063) | Acrocyanosis | 56 / 7739 | ||||
|
|
(HPO:0000965) | Cutis marmorata | 46 / 7739 | ||||
|
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(HPO:0004417) | Intermittent claudication | 10 / 7739 | ||||
|
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(HPO:0001678) | Atrioventricular block | 59 / 7739 | ||||
|
|
(HPO:0005315) | Peripheral artery occlusive disease | 7 / 7739 | ||||
|
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
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(HPO:0100758) | Gangrene | 25 / 7739 | ||||
|
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(HPO:0001942) | Metabolic acidosis | 81 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0030507) | Retinal crystals | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|