Disease #05772 (HLH (lymphohistiocytosis, hemophagocytic))

Official abbreviation HLH
Name lymphohistiocytosis, hemophagocytic
OMIM ID -
Inheritance Isolated Cases (Sporadic)
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene CDC42
Associated tissues -
Disease features -
Remarks -
Date created 2020-06-13 08:47:42 +02:00 (CEST)
Date last edited 2020-06-13 08:47:56 +02:00 (CEST)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00303481 Pat1 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white >6y - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; CNS inflammatory disease, 2y-3 episodes with generalized seizures, white and gray matter lesions in MR; gastrointestinal symptoms diarrhea, 11m-intestinal bleeding, 5y-intestinal infarction; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, constant transfusion dependent V2y; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; suspected trigonocephaly CDC42 CDC42 1 1 Johan den Dunnen
00303482 Pat2 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white 6m - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease; chronic diarrhea; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, intermittent transfusion during flares; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; 6m-died CDC42 CDC42 1 1 Johan den Dunnen
00303483 Pat3 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white 1y6m - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease, increased CSF protein and MRI with leptomeningitis; small intestine inflammation; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; profound neutropenia; acute-phase response; BM dysplasia; 1y6m-died CDC42 CDC42 1 1 Johan den Dunnen
00303484 Pat4 PubMed: Lam 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Middle East 4m15d - - - HLH see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; no splenomegaly; no CNS inflammatory disease; severe, unremitting enterocolitis from birth, diarrhea with intestinal bleedings and infarctions; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; mild neutropenia; acute-phase response; BM dysplasia; very small thymus; arthritis; 4.5m-died CDC42 CDC42 1 1 Johan den Dunnen
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