HLH4
MCID: HMP014
MIFTS: 35

Hemophagocytic Lymphohistiocytosis, Familial, 4 (HLH4) malady

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

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

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46OMIM, 32MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, 4, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and hemophagocytic lymphohistiocytosis, familial. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (syntaxin 11). Related mouse phenotype immune system.

Description from OMIM:46 267700,603552,603553,608898,613101

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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48Orphanet, 46OMIM, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Neuronal diseases, Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
familial hemophagocytic lymphohistiocytosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 4 42 20 22 46 60
familial hemophagocytic lymphohistiocytosis 48 46
lymphohistiocytosis, hemophagocytic 60
familial hlh 48
hplh4 42
hlh4 42


External Ids:

ICD10 via Orphanet26 D76.1
SNOMED-CT via Orphanet57 398250003

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 4:



Diseases related to hemophagocytic lymphohistiocytosis, familial, 4

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial, 4

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46OMIM
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Clinical features from OMIM:

267700,603552,603553,608898,613101

Clinical synopsis from OMIM:

267700

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 4

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20GeneTests, 22GTR
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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 420 STX11
2 Hemophagocytic Lymphohistiocytosis, Familial, 422

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Animal Models for Hemophagocytic Lymphohistiocytosis, Familial, 4 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0PRF1, STXBP2, STX11, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Genetic Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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16Gene Ontology
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Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytolytic granuleGO:0441949.0PRF1, STXBP2

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1defense response to virusGO:0516079.3PRF1, UNC13D
2regulation of mast cell degranulationGO:0433048.8STXBP2, UNC13D

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.0PRF1, STXBP2, STX11, UNC13D

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet