SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T HELPER CELLS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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183350
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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 dominant 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:0001971)
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Hypersplenism |
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8 / 7739
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2
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(HPO:0001744)
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Splenomegaly |
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337 / 7739
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3
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(HPO:0008165)
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Reduced circulating T-helper cells |
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2 / 7739
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4
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(HPO:0001876)
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Pancytopenia |
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89 / 7739
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5
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(HPO:0002965)
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Cutaneous anergy |
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7 / 7739
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6
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(OMIM)
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Reversed T4/T8 ratio |
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1 / 7739
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7
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(OMIM)
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Splenic and lymph node germinal center hypoplasia |
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1 / 7739
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8
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |