HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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OMIM Id:
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241519
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000117)
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Renal phosphate wasting |
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14 / 7739
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2
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(HPO:0008491)
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Premature anterior fontanel closure |
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1 / 7739
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3
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(HPO:0009882)
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Short distal phalanx of finger |
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125 / 7739
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4
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(HPO:0002514)
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Cerebral calcification |
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89 / 7739
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5
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(HPO:0002148)
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Hypophosphatemia |
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43 / 7739
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6
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(HPO:0008732)
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Renal hypophosphatemia |
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2 / 7739
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7
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(OMIM)
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Normal blood parathyroid hormone and vitamin D |
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1 / 7739
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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(OMIM)
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Normal serum calcium |
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9 / 7739
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10
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(OMIM)
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Recurrent dental abscesses |
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2 / 7739
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11
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(OMIM)
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Elevated serum alkaline phosphatase |
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3 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |