ACID-LABILE SUBUNIT DEFICIENCY
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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OMIM Id:
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615961
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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:0000823)
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Delayed puberty |
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65 / 7739
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2
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(HPO:0001530)
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Mild postnatal growth retardation |
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7 / 7739
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3
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(HPO:0008189)
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Insulin insensitivity |
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2 / 7739
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4
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(HPO:0045046)
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Decreased levels of acid labile subunit |
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1 / 7739
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5
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(HPO:0030353)
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Decreased serum insulin-like growth factor 1 |
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2 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |