Nephrogenic diabetes insipidus - intracranial calcification
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Schofer-Beetz-Bohl syndrome
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Number of Symptoms
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14
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OrphanetNr:
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3145
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OMIM Id:
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221995
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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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Genetic renal tubular disease
-Rare genetic disease
Rare renal tubular disease
-Rare renal disease
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1
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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2
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(HPO:0000494)
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Downslanted palpebral fissures |
Very frequent [Orphanet]
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328 / 7739
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3
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(HPO:0000272)
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Malar flattening |
Very frequent [Orphanet]
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277 / 7739
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4
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(HPO:0000670)
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Carious teeth |
Very frequent [Orphanet]
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145 / 7739
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5
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(HPO:0011069)
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Increased number of teeth |
Very frequent [Orphanet]
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39 / 7739
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6
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(HPO:0009738)
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Abnormality of the antihelix |
Very frequent [Orphanet]
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37 / 7739
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7
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(HPO:0000405)
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Conductive hearing impairment |
Frequent [Orphanet]
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164 / 7739
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8
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(HPO:0009806)
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Nephrogenic diabetes insipidus |
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8 / 7739
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9
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(HPO:0008373)
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Puberty and gonadal disorders |
Frequent [Orphanet]
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156 / 7739
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10
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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11
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(HPO:0002514)
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Cerebral calcification |
Very frequent [Orphanet]
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89 / 7739
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12
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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13
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
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328 / 7739
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14
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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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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |