Histidinuria - renal tubular defect
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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2158
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OMIM Id:
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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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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:0000343)
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Long philtrum |
Very frequent [Orphanet]
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262 / 7739
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2
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(HPO:0000431)
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Wide nasal bridge |
Very frequent [Orphanet]
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290 / 7739
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3
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(HPO:0000407)
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Sensorineural hearing impairment |
Very frequent [Orphanet]
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524 / 7739
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4
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(HPO:0001167)
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Abnormality of finger |
Very frequent [Orphanet]
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29 / 7739
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5
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(HPO:0002750)
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Delayed skeletal maturation |
Very frequent [Orphanet]
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250 / 7739
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6
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(HPO:0001800)
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Hypoplastic toenails |
Very frequent [Orphanet]
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74 / 7739
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7
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(HPO:0001943)
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Hypoglycemia |
Very frequent [Orphanet]
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131 / 7739
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8
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(HPO:0004337)
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Abnormality of amino acid metabolism |
Very frequent [Orphanet]
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45 / 7739
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9
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(HPO:0400004)
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Long ear |
Very frequent [Orphanet]
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94 / 7739
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10
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(HPO:0002120)
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Cerebral cortical atrophy |
Very frequent [Orphanet]
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187 / 7739
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11
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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12
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(HPO:0002119)
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Ventriculomegaly |
Very frequent [Orphanet]
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253 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |