MCID: HMP014
MIFTS: 20

Hemophagocytic Lymphohistiocytosis, Familial, 4 malady

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Hemophagocytic Lymphohistiocytosis, Familial, 4, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 4 45 10 41 20 22 60
Hplh4 41
 
Hlh4 41


Classifications:



External Ids:

OMIM45 603552

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

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OMIM:45 Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5... (603552) more...

MalaCards based summary: Hemophagocytic Lymphohistiocytosis, Familial, 4, is also known as hplh4, and has symptoms including splenomegaly, anemia and hepatomegaly. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (syntaxin 11). Affiliated tissues include nk cells.

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Symptoms for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Symptoms by clinical synopsis from OMIM:

603552

Clinical features from OMIM:

603552

HPO human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

(show all 13)
id Description Frequency HPO Source Accession
1 splenomegaly 7% HP:0001744
2 anemia 7% HP:0001903
3 hepatomegaly 7% HP:0002240
4 thrombocytopenia 6% HP:0001873
5 hemophagocytosis 6% HP:0012156
6 seizures rare (5%) HP:0001250
7 global developmental delay rare (5%) HP:0001263
8 neutropenia rare (5%) HP:0001875
9 hypertriglyceridemia rare (5%) HP:0002155
10 increased serum ferritin 3% HP:0003281
11 hypofibrinogenemia 3% HP:0011900
12 autosomal recessive inheritance HP:0000007
13 fever HP:0001945

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

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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

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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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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

31
Nk cells

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

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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

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Clinvar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 4:

6
id Gene Variation 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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Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 4.

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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Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet