HLH4
MCID: HMP014
MIFTS: 38

Hemophagocytic Lymphohistiocytosis, Familial, 4 (HLH4) malady

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

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

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48OMIM, 34MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, 4, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and familial hemophagocytic lymphohistiocytosis 5. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (syntaxin 11). Related mouse phenotypes are immune system and hematopoietic system.

Description from OMIM:48 267700,603552,603553,608898,613101

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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50Orphanet, 48OMIM, 44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial hemophagocytic lymphohistiocytosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 4 44 21 23 48 63
familial hemophagocytic lymphohistiocytosis 50 48
lymphohistiocytosis, hemophagocytic 63
familial hlh 50
hplh4 44
hlh4 44


External Ids:

ICD10 via Orphanet27 D76.1
SNOMED-CT via Orphanet60 398250003
UMLS via Orphanet64 C0272199

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 4:



Diseases related to hemophagocytic lymphohistiocytosis, familial, 4

Symptoms for Hemophagocytic Lymphohistiocytosis, Familial, 4

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48OMIM
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Symptoms by clinical synopsis from OMIM:

267700

Clinical features from OMIM:

267700,603552,603553,608898,613101

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

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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, 4

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21GeneTests, 23GTR
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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 421 STX11
2 Hemophagocytic Lymphohistiocytosis, Familial, 423

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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38MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0STXBP2, STX11, PRF1, UNC13D
2MP:00053977.7STXBP2, STX11, PRF1, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1STX11NM_003764.3(STX11): c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs)indelPathogenicrs483352901GRCh37Chr 6, 144508133: 144508140
2STX11NM_003764.3: c.-5-9734_*8586del19189deletionPathogenicGRCh38Chr 6, 144176889: 144196077
3STX11NM_003764.3(STX11): c.802C> T (p.Gln268Ter)single nucleotide variantPathogenicrs104893996GRCh37Chr 6, 144508566: 144508566
4STX11NM_003764.3(STX11): c.173T> C (p.Leu58Pro)single nucleotide variantPathogenicrs431905512GRCh37Chr 6, 144507937: 144507937

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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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, 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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17Gene Ontology
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Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:0433209.4STX11, UNC13D
2regulation of mast cell degranulationGO:0433049.2STXBP2, UNC13D
3defense response to virusGO:0516079.1PRF1, UNC13D
4neutrophil degranulationGO:0433129.0STXBP2, STX11

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

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

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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  • Antibodies
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Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

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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