IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACEGLYCOPROTEIN
General Information (adopted from Orphanet):
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Synonyms, Signs:
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GPL115 DEFICIENCY
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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308220
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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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X-linked 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:0005402)
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Primary T-lymphocyte immune abnormalities |
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1 / 7739
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2
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(HPO:0002721)
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Immunodeficiency |
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97 / 7739
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3
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(OMIM)
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Reduced lymphocyte volume |
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1 / 7739
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4
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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5
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(OMIM)
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Deficiency of 115,000-dalton lymphocyte membrane glycoprotein |
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1 / 7739
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6
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(OMIM)
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Circulating immature T-cells |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |