HLH4
MCID: HMP014
MIFTS: 38

Hemophagocytic Lymphohistiocytosis, Familial, 4 (HLH4) malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Immune diseases categories
Download this MalaCard

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 267700,603552,603553,608898,613101

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
49Orphanet, 47OMIM, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



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 62
familial hemophagocytic lymphohistiocytosis 49 47
lymphohistiocytosis, hemophagocytic 62
familial hlh 49
hplh4 43
hlh4 43


External Ids:

ICD10 via Orphanet26 D76.1
SNOMED-CT via Orphanet59 398250003
UMLS via Orphanet63 C0272199

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

267700

Clinical features from OMIM:

267700,603552,603553,608898,613101

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis, Familial, 4

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

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

About this section
Sources:
37MGI
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0STXBP2, STX11, PRF1, UNC13D
2MP:00053977.7STXBP2, STX11, PRF1, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
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