FHLH
MCID: HMP008
MIFTS: 23

Hemophagocytic Lymphohistiocytosis, Familial (FHLH) malady

Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Neuronal diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial

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20GeneReviews, 34MalaCards
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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.

GeneReviews summary for hlh

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial

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20GeneReviews, 63UMLS
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Classifications:



Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial 20
familial erythrophagocytic lymphohistiocytosis 20
familial hemophagocytic lymphocytosis 63
fhlh 20


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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38MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial:

38
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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53PubMed
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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, 16Gene 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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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet