HLH4
MCID: HMP014
MIFTS: 39

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


Fully expand this MalaCard
MalaCards based summary: Hemophagocytic Lymphohistiocytosis, Familial, 4, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and familial hemophagocytic lymphohistiocytosis 5, and has symptoms including An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (syntaxin 11). Related mouse phenotypes are immune system and hematopoietic system.

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
Sources:
48Orphanet, 46OMIM, 42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hemophagocytic Lymphohistiocytosis, Familial, 4, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 4 42 20 22 46 62
Familial Hemophagocytic Lymphohistiocytosis 48 46
Familial Haemophagocytic Lymphohistiocytosis 62
Lymphohistiocytosis, Hemophagocytic 62
 
Familial Hlh 48
Hplh4 42
Hlh4 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 D76.1
UMLS via Orphanet63 C0272199

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section

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

Symptoms by clinical synopsis from OMIM:

267700

Clinical features from OMIM:

267700,603552,603553,608898,613101

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

(show all 50)
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 irritability HP:0000737
14 jaundice HP:0000952
15 seizures HP:0001250
16 ataxia HP:0001251
17 muscular hypotonia HP:0001252
18 coma HP:0001259
19 global developmental delay HP:0001263
20 hypertonia HP:0001276
21 meningitis HP:0001287
22 failure to thrive HP:0001508
23 splenomegaly HP:0001744
24 thrombocytopenia HP:0001873
25 leukopenia HP:0001882
26 anemia HP:0001903
27 hypertriglyceridemia HP:0002155
28 hepatomegaly HP:0002240
29 hemiplegia HP:0002301
30 encephalitis HP:0002383
31 tetraplegia HP:0002445
32 increased intracranial pressure HP:0002516
33 lymphadenopathy HP:0002716
34 hyponatremia HP:0002902
35 increased csf protein HP:0002922
36 hypoalbuminemia HP:0003073
37 hypoproteinemia HP:0003075
38 hyperbetalipoproteinemia HP:0003141
39 hypoalphalipoproteinemia HP:0003233
40 increased serum ferritin HP:0003281
41 increased circulating very-low-density lipoprotein cholesterol HP:0003362
42 increased total bilirubin HP:0003573
43 prolonged partial thromboplastin time HP:0003645
44 generalized edema HP:0007430
45 prolonged prothrombin time HP:0008151
46 hypofibrinogenemia HP:0011900
47 hemophagocytosis HP:0012156
48 csf pleocytosis HP:0012229
49 autosomal recessive inheritance HP:0000007
50 fever HP:0001945

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section

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

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

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

36
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

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

6 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1PRF1PRF1, 1-BP DEL, 50TdeletionPathogenic
2PRF1NM_001083116.1(PRF1): c.190C> T (p.Gln64Ter)single nucleotide variantPathogenicrs104894180GRCh37Chr 10, 72360469: 72360469
3PRF1NM_001083116.1(PRF1): c.673C> T (p.Arg225Trp)single nucleotide variantPathogenicrs28933973GRCh37Chr 10, 72358804: 72358804
4PRF1NM_001083116.1(PRF1): c.1286G> A (p.Gly429Glu)single nucleotide variantPathogenicrs104894181GRCh37Chr 10, 72358191: 72358191
5PRF1NM_001083116.1(PRF1): c.1034C> T (p.Pro345Leu)single nucleotide variantPathogenicrs28933374GRCh37Chr 10, 72358443: 72358443
6PRF1NM_001083116.1(PRF1): c.836G> A (p.Cys279Tyr)single nucleotide variantPathogenicrs104894182GRCh37Chr 10, 72358641: 72358641
7PRF1NM_001083116.1(PRF1): c.548T> G (p.Val183Gly)single nucleotide variantPathogenicrs104894183GRCh37Chr 10, 72358929: 72358929
8PRF1NM_001083116.1(PRF1): c.1304C> T (p.Thr435Met)single nucleotide variantPathogenicrs28933376GRCh37Chr 10, 72358173: 72358173
9PRF1PRF1, 2-BP DEL, 1090CTdeletionPathogenic
10PRF1PRF1, 1-BP DEL, 207AdeletionPathogenic
11PRF1NM_001083116.1(PRF1): c.1246C> T (p.Gln416Ter)single nucleotide variantPathogenicrs193302876GRCh37Chr 10, 72358231: 72358231
12UNC13DUNC13D, 12-BP DEL, NT1822deletionPathogenic
13UNC13DUNC13D, 1-BP DEL, 214CdeletionPathogenic
14UNC13DUNC13D, 1-BP INS, 1755TinsertionPathogenic
15UNC13DUNC13D, IVS15DS, G-A, +1single nucleotide variantPathogenic
16UNC13DNM_199242.2(UNC13D): c.766C> T (p.Arg256Ter)single nucleotide variantPathogenicrs121434352GRCh37Chr 17, 73836398: 73836398
17UNC13DUNC13D, IVS9DS, G-T, +1single nucleotide variantPathogenic
18UNC13DNM_199242.2(UNC13D): c.1208T> C (p.Leu403Pro)single nucleotide variantPathogenicrs121434353GRCh37Chr 17, 73832743: 73832743
19UNC13DNM_199242.2(UNC13D): c.2570T> G (p.Phe857Cys)single nucleotide variantPathogenicrs121434354GRCh37Chr 17, 73827234: 73827234
20STXBP2NM_006949.3(STXBP2): c.1621G> A (p.Gly541Ser)single nucleotide variantPathogenicrs61736587GRCh37Chr 19, 7712322: 7712322
21STX11NM_003764.3(STX11): c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs)indelPathogenicrs483352901GRCh37Chr 6, 144508133: 144508140
22STX11NM_003764.3: c.-5-9734_*8586del19189deletionPathogenicGRCh38Chr 6, 144176889: 144196077
23STX11NM_003764.3(STX11): c.802C> T (p.Gln268Ter)single nucleotide variantPathogenicrs104893996GRCh37Chr 6, 144508566: 144508566
24STXBP2NM_006949.3(STXBP2): c.1430C> T (p.Pro477Leu)single nucleotide variantPathogenicrs121918540GRCh37Chr 19, 7711208: 7711208
25STXBP2STXBP2, 3-BP DEL, 693GATdeletionPathogenic
26STXBP2STXBP2, IVS14AS, G-C, -1single nucleotide variantPathogenic
27STXBP2NM_006949.3(STXBP2): c.626T> C (p.Leu209Pro)single nucleotide variantPathogenicrs121918541GRCh37Chr 19, 7706967: 7706967
28STXBP2STXBP2, 1-BP DEL, 260TdeletionPathogenic
29STXBP2STXBP2, 1-BP DEL, 706GdeletionPathogenic
30STX11NM_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
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

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

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet