HLH4
MCID: HMP014
MIFTS: 30

Hemophagocytic Lymphohistiocytosis, Familial, 4 (HLH4) malady

Neuronal, Blood, Immune, Genetic categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

Sources:
47OMIM, 33MalaCards
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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:47 267700,603552,603553,608898,613101

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

Sources:
49Orphanet, 47OMIM, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial hemophagocytic lymphohistiocytosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 4 43 20 22 47 61
familial hemophagocytic lymphohistiocytosis 49 47
lymphohistiocytosis, hemophagocytic 61
familial hlh 49
hplh4 43
hlh4 43


External Ids:

ICD10 via Orphanet26 D76.1
SNOMED-CT via Orphanet58 398250003

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

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



Diseases related to hemophagocytic lymphohistiocytosis, familial, 4

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial, 4

Sources:
47OMIM
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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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemophagocytic Lymphohistiocytosis, Familial, 4

Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis, Familial, 4

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 4

Search CenterWatch for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 4

Sources:
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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0PRF1, STXBP2, STX11, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 4.

Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet