FHLH
MCID: HMP008
MIFTS: 23

Hemophagocytic Lymphohistiocytosis, Familial (FHLH) malady

Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Neuronal diseases categories
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Summaries for Hemophagocytic Lymphohistiocytosis, Familial

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19GeneReviews, 33MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, also known as familial erythrophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and hemophagocytic lymphohistiocytosis, familial, 4. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial is UNC13D (unc-13 homolog D (C. elegans)). Related mouse phenotypes are immune system and hematopoietic system.

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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial

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19GeneReviews, 62UMLS
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Classifications:



Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial 19
familial erythrophagocytic lymphohistiocytosis 19
familial hemophagocytic lymphocytosis 62
fhlh 19


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hemophagocytic Lymphohistiocytosis, Familial:



Diseases related to hemophagocytic lymphohistiocytosis, familial

Symptoms for Hemophagocytic Lymphohistiocytosis, Familial

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial

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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial

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Animal Models for Hemophagocytic Lymphohistiocytosis, Familial or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1STXBP2, STX11, PRF1, UNC13D
2MP:00053977.8STXBP2, STX11, PRF1, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial

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52PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis, Familial:

idTitleAuthorsYear
1
Hemophagocytic Lymphohistiocytosis, Familial (20301617)
1993

Variations for Hemophagocytic Lymphohistiocytosis, Familial

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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16Gene Ontology
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Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytolytic granuleGO:0441949.1STXBP2, PRF1

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1defense response to virusGO:0516079.5PRF1, UNC13D
2natural killer cell degranulationGO:0433209.4STX11, UNC13D
3regulation of mast cell degranulationGO:0433049.1STXBP2, UNC13D
4neutrophil degranulationGO:0433128.7STXBP2, STX11

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.5FHL1, STXBP2, STX11, PRF1, UNC13D

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Sources for Hemophagocytic Lymphohistiocytosis, Familial

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet