FHL4
MCID: HMP014
MIFTS: 49

Hemophagocytic Lymphohistiocytosis, Familial, 4 (FHL4)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 4:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 4 57 72 13 70
Familial Hemophagocytic Lymphohistiocytosis 4 12 29 6 15
Hplh4 57 12 72
Fhl4 57 12 72
Hlh4 57 12 72
Lymphohistiocytosis, Hemophagocytic, Familial, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
fatal without hematopoietic stem cell transplantation


HPO:

31
hemophagocytic lymphohistiocytosis, familial, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset


Classifications:



Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

OMIM® : 57 Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; 147730). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see 267700. (603552) (Updated 05-Apr-2021)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 4, also known as familial hemophagocytic lymphohistiocytosis 4, is related to hemophagocytic lymphohistiocytosis, familial, 1 and hemophagocytic lymphohistiocytosis, familial, 2, and has symptoms including fever An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (Syntaxin 11), and among its related pathways/superpathways are Vesicle-mediated transport and Angiopoietin Like Protein 8 Regulatory Pathway. Affiliated tissues include bone marrow, bone and testis, and related phenotypes are global developmental delay and splenomegaly

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of STX11 on chromosome 6q24.2.

UniProtKB/Swiss-Prot : 72 Hemophagocytic lymphohistiocytosis, familial, 4: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 4

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5 Secondary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis

Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 1 29.9 UNC13D STXBP2 STX11 RAB27A PRF1 FHL2
2 hemophagocytic lymphohistiocytosis, familial, 2 29.9 STXBP2 STX11 PRF1 FHL2
3 hemophagocytic lymphohistiocytosis, familial, 3 29.8 UNC13D UNC13B STX11 RAB27A
4 hemophagocytic lymphohistiocytosis 29.1 UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A
5 systemic onset juvenile idiopathic arthritis 10.1 RAB27A PRF1
6 acute hemorrhagic encephalitis 10.1 UNC13D STXBP2 STX11
7 cardiac rupture 10.1 PRF1 FHL2
8 macrophage activation syndrome 10.1 UNC13D RAB27A PRF1
9 osmotic diarrhea 10.1 STXBP2 STX3
10 selective immunoglobulin deficiency disease 10.1 UNC13D STXBP2
11 primary hemophagocytic lymphohistiocytosis 10.0 UNC13D STX11 RAB27A PRF1
12 lymphoproliferative syndrome 1 10.0 UNC13D STXBP2 STX11 PRF1
13 lymphoproliferative syndrome 2 10.0 STXBP2 STX11 LYST
14 congenital diarrhea 9.9 STXBP2 STX3
15 pancytopenia 9.9 UNC13D STXBP2 STX11 RAB27A PRF1
16 hemophagocytic lymphohistiocytosis, familial, 5 9.9 VAMP8 UNC13D STXBP2 STX3 STX11
17 piebald trait 9.9 UNC13D STXBP2 STX11 RAB27A LYST
18 chediak-higashi syndrome 9.7 UNC13D STXBP2 STX11 RAB27A PRF1 LYST
19 tetanus 9.7 VTI1B VAMP7 STX3 SNAP23
20 hypomyelinating leukodystrophy 9.7 VTI1B UNC13B STX4 STX3
21 lymphoproliferative syndrome, x-linked, 2 9.6 UNC13D STXBP2 STX11 RAB27A PRF1 LYST
22 lymphoproliferative syndrome, x-linked, 1 9.6 UNC13D STXBP2 STX11 RAB27A PRF1 LYST
23 griscelli syndrome, type 2 9.4 UNC13D UNC13B STXBP2 STX11 RAB27A PRF1
24 griscelli syndrome 9.3 UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A
25 leukodystrophy, hypomyelinating, 6 8.4 VTI1B VAMP8 VAMP7 VAMP4 UNC13B STX7
26 hermansky-pudlak syndrome 8.3 VTI1B VAMP8 VAMP7 UNC13D STXBP2 STX8

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 4:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 4

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 4

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 splenomegaly 31 very rare (1%) HP:0001744
3 hepatomegaly 31 very rare (1%) HP:0002240
4 hypertriglyceridemia 31 very rare (1%) HP:0002155
5 anemia 31 very rare (1%) HP:0001903
6 thrombocytopenia 31 very rare (1%) HP:0001873
7 jaundice 31 very rare (1%) HP:0000952
8 conjunctivitis 31 very rare (1%) HP:0000509
9 skin rash 31 very rare (1%) HP:0000988
10 neutropenia 31 very rare (1%) HP:0001875
11 lymphadenopathy 31 very rare (1%) HP:0002716
12 edema 31 very rare (1%) HP:0000969
13 recurrent fever 31 very rare (1%) HP:0001954
14 hemophagocytosis 31 very rare (1%) HP:0012156
15 hypofibrinogenemia 31 very rare (1%) HP:0011900
16 seizure 31 very rare (1%) HP:0001250
17 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
18 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Metabolic Features:
fever

Neurologic Central Nervous System:
seizures (in some patients)
hypotonia (in some patients)
delayed psychomotor development (in some patients)

Immunology:
hyperinflammatory disorder
hemophagocytosis in bone marrow and lymph nodes

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
neutropenia
defective nk cell activity
defective nk cell degranulation

Laboratory Abnormalities:
decreased fibrinogen
increased ferritin
increased triglycerides
increased soluble il2 receptor

Neoplasia:
increased risk of myelodysplastic syndrome or leukemia (in some patients)

Clinical features from OMIM®:

603552 (Updated 05-Apr-2021)

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 4:


fever

GenomeRNAi Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.4 UNC13B
2 Decreased viability GR00221-A-1 9.4 UNC13B
3 Decreased viability GR00221-A-2 9.4 UNC13B
4 Decreased viability GR00221-A-3 9.4 UNC13B
5 Decreased viability GR00221-A-4 9.4 UNC13B
6 Decreased viability GR00249-S 9.4 STXBP2 VAMP4
7 Decreased viability GR00381-A-1 9.4 STX8 STXBP3
8 Decreased viability GR00386-A-1 9.4 STX4 STXBP2
9 Decreased viability GR00402-S-2 9.4 STX8

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 LYST PRF1 RAB27A STX7 STXBP3 UNC13B
2 hematopoietic system MP:0005397 9.36 LYST PRF1 RAB27A SNAP23 STX11 STX4

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

Search Clinical Trials , NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 4 29 STX11

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

40
Bone Marrow, Bone, Testis, Nk Cells

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

(show all 19)
# Title Authors PMID Year
1
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2. 6 57 61
24459464 2014
2
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. 6 57
16582076 2006
3
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. 57 6
15703195 2005
4
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis. 57
32374962 2020
5
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 6
28750028 2017
6
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 57
16278825 2006
7
Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes. 61
26771955 2015
8
The FHL2 regulation in the transcriptional circuitry of human cancers. 61
26211626 2015
9
Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 61
24194549 2013
10
Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease. 61
23190531 2013
11
Syntaxin-11, but not syntaxin-2 or syntaxin-4, is required for platelet secretion. 61
22767500 2012
12
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). 61
21298754 2011
13
Angeborene hämophagozytische Lymphohistiozytose (HLH). 61
20458667 2010
14
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 61
19884660 2009
15
Fhl5/Act, a CREM-binding transcriptional activator required for normal sperm maturation and morphology, is not essential for testicular gene expression. 61
19930692 2009
16
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. 61
17525286 2007
17
Hemophagocytic Lymphohistiocytosis, Familial – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301617 2006
18
The multifunctional roles of the four-and-a-half-LIM only protein FHL2. 61
16389449 2006
19
The fourth member of the FHL family of LIM proteins is expressed exclusively in the testis. 61
10049694 1999

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

6 (show top 50) (show all 169)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STX11 NM_003764.4(STX11):c.369_376delinsTGG (p.Val124fs) Indel Pathogenic 5263 rs483352901 GRCh37: 6:144508133-144508140
GRCh38: 6:144186996-144187003
2 STX11 NC_000006.12:g.144176889_144196077del Deletion Pathogenic 5264 GRCh37: 6:144498026-144517214
GRCh38: 6:144176889-144196077
3 STX11 NM_003764.4(STX11):c.802C>T (p.Gln268Ter) SNV Pathogenic 5265 rs104893996 GRCh37: 6:144508566-144508566
GRCh38: 6:144187429-144187429
4 STX11 NC_000006.12:g.(?_144186608)_(144187511_?)del Deletion Pathogenic 583514 GRCh37: 6:144507745-144508648
GRCh38: 6:144186608-144187511
5 STX11 NM_003764.4(STX11):c.581_584del (p.Leu194fs) Deletion Pathogenic 802280 rs1584062332 GRCh37: 6:144508343-144508346
GRCh38: 6:144187206-144187209
6 STX11 NM_003764.4(STX11):c.391C>T (p.Gln131Ter) SNV Likely pathogenic 203384 rs794729649 GRCh37: 6:144508155-144508155
GRCh38: 6:144187018-144187018
7 STX11 NM_003764.4(STX11):c.173T>C (p.Leu58Pro) SNV Conflicting interpretations of pathogenicity 97001 rs431905512 GRCh37: 6:144507937-144507937
GRCh38: 6:144186800-144186800
8 STX11 NM_003764.4(STX11):c.26T>G (p.Leu9Arg) SNV Conflicting interpretations of pathogenicity 355598 rs34470310 GRCh37: 6:144507790-144507790
GRCh38: 6:144186653-144186653
9 STX11 NM_003764.4(STX11):c.589G>A (p.Val197Met) SNV Conflicting interpretations of pathogenicity 355604 rs141499372 GRCh37: 6:144508353-144508353
GRCh38: 6:144187216-144187216
10 STX11 NM_003764.4(STX11):c.221C>T (p.Thr74Met) SNV Conflicting interpretations of pathogenicity 790834 rs540150447 GRCh37: 6:144507985-144507985
GRCh38: 6:144186848-144186848
11 STX11 NM_003764.4(STX11):c.570C>T (p.Ser190=) SNV Uncertain significance 904511 GRCh37: 6:144508334-144508334
GRCh38: 6:144187197-144187197
12 STX11 NM_003764.4(STX11):c.-125C>G SNV Uncertain significance 907821 GRCh37: 6:144471721-144471721
GRCh38: 6:144150584-144150584
13 STX11 NM_003764.4(STX11):c.585C>A (p.Ala195=) SNV Uncertain significance 355603 rs147525157 GRCh37: 6:144508349-144508349
GRCh38: 6:144187212-144187212
14 STX11 NM_003764.4(STX11):c.668A>C (p.Asp223Ala) SNV Uncertain significance 536230 rs1554294411 GRCh37: 6:144508432-144508432
GRCh38: 6:144187295-144187295
15 STX11 NM_003764.4(STX11):c.281A>G (p.Lys94Arg) SNV Uncertain significance 576251 rs371402170 GRCh37: 6:144508045-144508045
GRCh38: 6:144186908-144186908
16 STX11 NM_003764.4(STX11):c.767C>G (p.Thr256Ser) SNV Uncertain significance 580091 rs1562671483 GRCh37: 6:144508531-144508531
GRCh38: 6:144187394-144187394
17 STX11 NM_003764.4(STX11):c.*428T>C SNV Uncertain significance 906902 GRCh37: 6:144509056-144509056
GRCh38: 6:144187919-144187919
18 STX11 NM_003764.4(STX11):c.*549C>T SNV Uncertain significance 906903 GRCh37: 6:144509177-144509177
GRCh38: 6:144188040-144188040
19 STX11 NM_003764.4(STX11):c.*1704G>T SNV Uncertain significance 906976 GRCh37: 6:144510332-144510332
GRCh38: 6:144189195-144189195
20 STX11 NM_003764.4(STX11):c.*1832A>G SNV Uncertain significance 906977 GRCh37: 6:144510460-144510460
GRCh38: 6:144189323-144189323
21 STX11 NM_003764.4(STX11):c.614A>G (p.Asn205Ser) SNV Uncertain significance 904512 GRCh37: 6:144508378-144508378
GRCh38: 6:144187241-144187241
22 STX11 NM_003764.4(STX11):c.319A>G (p.Met107Val) SNV Uncertain significance 1001455 GRCh37: 6:144508083-144508083
GRCh38: 6:144186946-144186946
23 STX11 NM_003764.4(STX11):c.463G>A (p.Asp155Asn) SNV Uncertain significance 1003843 GRCh37: 6:144508227-144508227
GRCh38: 6:144187090-144187090
24 STX11 NM_003764.4(STX11):c.46G>A (p.Asp16Asn) SNV Uncertain significance 1005379 GRCh37: 6:144507810-144507810
GRCh38: 6:144186673-144186673
25 STX11 NM_003764.4(STX11):c.813GAA[1] (p.Lys272del) Microsatellite Uncertain significance 1006199 GRCh37: 6:144508576-144508578
GRCh38: 6:144187439-144187441
26 STX11 NM_003764.4(STX11):c.277A>G (p.Ile93Val) SNV Uncertain significance 836507 GRCh37: 6:144508041-144508041
GRCh38: 6:144186904-144186904
27 STX11 NM_003764.4(STX11):c.289G>A (p.Gly97Ser) SNV Uncertain significance 838955 GRCh37: 6:144508053-144508053
GRCh38: 6:144186916-144186916
28 STX11 NM_003764.4(STX11):c.527A>G (p.Gln176Arg) SNV Uncertain significance 842382 GRCh37: 6:144508291-144508291
GRCh38: 6:144187154-144187154
29 STX11 NM_003764.4(STX11):c.745G>A (p.Val249Ile) SNV Uncertain significance 858227 GRCh37: 6:144508509-144508509
GRCh38: 6:144187372-144187372
30 STX11 NM_003764.4(STX11):c.692T>C (p.Met231Thr) SNV Uncertain significance 858408 GRCh37: 6:144508456-144508456
GRCh38: 6:144187319-144187319
31 STX11 NM_003764.4(STX11):c.228G>C (p.Met76Ile) SNV Uncertain significance 904510 GRCh37: 6:144507992-144507992
GRCh38: 6:144186855-144186855
32 STX11 NM_003764.4(STX11):c.64G>C (p.Gly22Arg) SNV Uncertain significance 937948 GRCh37: 6:144507828-144507828
GRCh38: 6:144186691-144186691
33 STX11 NM_003764.4(STX11):c.764A>C (p.Tyr255Ser) SNV Uncertain significance 939942 GRCh37: 6:144508528-144508528
GRCh38: 6:144187391-144187391
34 STX11 NM_003764.4(STX11):c.11G>A (p.Arg4Gln) SNV Uncertain significance 950954 GRCh37: 6:144507775-144507775
GRCh38: 6:144186638-144186638
35 STX11 NM_003764.4(STX11):c.432C>G (p.His144Gln) SNV Uncertain significance 966489 GRCh37: 6:144508196-144508196
GRCh38: 6:144187059-144187059
36 STX11 NM_003764.4(STX11):c.11G>T (p.Arg4Leu) SNV Uncertain significance 1014652 GRCh37: 6:144507775-144507775
GRCh38: 6:144186638-144186638
37 STX11 NM_003764.4(STX11):c.34T>G (p.Ser12Ala) SNV Uncertain significance 1017926 GRCh37: 6:144507798-144507798
GRCh38: 6:144186661-144186661
38 STX11 NM_003764.4(STX11):c.17C>T (p.Ala6Val) SNV Uncertain significance 1021165 GRCh37: 6:144507781-144507781
GRCh38: 6:144186644-144186644
39 STX11 NM_003764.4(STX11):c.770G>A (p.Gly257Asp) SNV Uncertain significance 1023529 GRCh37: 6:144508534-144508534
GRCh38: 6:144187397-144187397
40 STX11 NM_003764.4(STX11):c.24_26del (p.Leu9del) Deletion Uncertain significance 355597 rs760492745 GRCh37: 6:144507786-144507788
GRCh38: 6:144186649-144186651
41 STX11 NM_003764.4(STX11):c.106G>C (p.Glu36Gln) SNV Uncertain significance 647479 rs373333798 GRCh37: 6:144507870-144507870
GRCh38: 6:144186733-144186733
42 STX11 NM_003764.4(STX11):c.581T>G (p.Leu194Arg) SNV Uncertain significance 844357 GRCh37: 6:144508345-144508345
GRCh38: 6:144187208-144187208
43 STX11 NM_003764.4(STX11):c.292G>A (p.Glu98Lys) SNV Uncertain significance 845351 GRCh37: 6:144508056-144508056
GRCh38: 6:144186919-144186919
44 STX11 NM_003764.4(STX11):c.9C>A (p.Asp3Glu) SNV Uncertain significance 852209 GRCh37: 6:144507773-144507773
GRCh38: 6:144186636-144186636
45 STX11 NM_003764.4(STX11):c.157G>A (p.Asp53Asn) SNV Uncertain significance 859503 GRCh37: 6:144507921-144507921
GRCh38: 6:144186784-144186784
46 STX11 NM_003764.4(STX11):c.686T>G (p.Leu229Trp) SNV Uncertain significance 944423 GRCh37: 6:144508450-144508450
GRCh38: 6:144187313-144187313
47 STX11 NM_003764.4(STX11):c.536A>G (p.Asp179Gly) SNV Uncertain significance 960582 GRCh37: 6:144508300-144508300
GRCh38: 6:144187163-144187163
48 STX11 NM_003764.4(STX11):c.863A>G (p.Ter288Trp) SNV Uncertain significance 968087 GRCh37: 6:144508627-144508627
GRCh38: 6:144187490-144187490
49 STX11 NM_003764.4(STX11):c.404T>C (p.Leu135Pro) SNV Uncertain significance 1042550 GRCh37: 6:144508168-144508168
GRCh38: 6:144187031-144187031
50 STX11 NM_003764.4(STX11):c.695C>T (p.Ala232Val) SNV Uncertain significance 1043294 GRCh37: 6:144508459-144508459
GRCh38: 6:144187322-144187322

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 4

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 VAMP8 VAMP7 VAMP4 STXBP3 STX4 SNAP23
2
Show member pathways
12.19 STXBP3 STXBP2 STX4 SNAP23
3
Show member pathways
12.18 VTI1B VAMP8 VAMP7 VAMP4 STX8 STX7
4
Show member pathways
12.05 VAMP8 VAMP7 STX4 SNAP23
5
Show member pathways
11.33 VTI1B VAMP8 VAMP7 VAMP4 STX8 STX7
6 11.23 STXBP3 STX4 SNAP23
7 10.64 UNC13D RAB27A
8 10.43 VTI1B VAMP8 UNC13D STX8 RAB27A

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 4

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.42 VTI1B VAMP8 VAMP7 VAMP4 STXBP2 STX8
2 plasma membrane GO:0005886 10.41 VAMP8 VAMP7 VAMP4 UNC13B STXBP3 STXBP2
3 membrane GO:0016020 10.41 VTI1B VAMP8 VAMP7 VAMP4 UNC13D UNC13B
4 cytosol GO:0005829 10.39 VTI1B VAMP8 UNC13D UNC13B STXBP3 STXBP2
5 extracellular exosome GO:0070062 10.23 VAMP8 VAMP7 STXBP3 STXBP2 STX7 STX4
6 Golgi apparatus GO:0005794 10.14 VTI1B VAMP7 VAMP4 UNC13B STX11 RAB27A
7 perinuclear region of cytoplasm GO:0048471 10.08 VTI1B VAMP8 VAMP7 STX8 STX7 STX4
8 lysosome GO:0005764 9.98 VTI1B VAMP8 VAMP7 VAMP4 UNC13D STX7
9 lysosomal membrane GO:0005765 9.96 VTI1B VAMP8 VAMP7 STX8 STX7
10 endosome GO:0005768 9.96 VTI1B VAMP8 VAMP7 VAMP4 UNC13D STX8
11 vesicle GO:0031982 9.91 VTI1B VAMP8 STX8 STX7
12 trans-Golgi network GO:0005802 9.91 VAMP7 VAMP4 STX8 STX4
13 endomembrane system GO:0012505 9.91 STX8 STX7 STX4 STX3 STX11
14 presynapse GO:0098793 9.88 STXBP3 STXBP2 STX3 SNAP23
15 late endosome GO:0005770 9.87 UNC13D STX8 STX7 RAB27A
16 late endosome membrane GO:0031902 9.85 VTI1B VAMP8 VAMP7 STX8
17 recycling endosome GO:0055037 9.85 VTI1B VAMP8 UNC13D STX8 STX7
18 phagocytic vesicle GO:0045335 9.84 VAMP7 STXBP3 STX8 STX4
19 early endosome membrane GO:0031901 9.83 VTI1B VAMP8 STX7
20 phagocytic vesicle membrane GO:0030670 9.83 VAMP8 VAMP7 STX4 SNAP23
21 secretory granule membrane GO:0030667 9.81 VAMP8 VAMP7 RAB27A
22 clathrin-coated vesicle membrane GO:0030665 9.8 VAMP8 VAMP7 VAMP4
23 secretory granule GO:0030141 9.8 VAMP7 STXBP3 STXBP2 STX3 RAB27A
24 synaptic vesicle GO:0008021 9.7 VTI1B VAMP7 VAMP4 STX7 STX4 STX3
25 presynaptic active zone membrane GO:0048787 9.67 STX4 STX3 STX11
26 exocytic vesicle GO:0070382 9.65 UNC13D RAB27A
27 vacuole GO:0005773 9.65 STX4 STX3
28 platelet alpha granule GO:0031091 9.64 VAMP7 STXBP3
29 Weibel-Palade body GO:0033093 9.62 UNC13D RAB27A
30 azurophil granule GO:0042582 9.62 STXBP2 STX7 STX3 SNAP23
31 cytolytic granule GO:0044194 9.59 STXBP2 PRF1
32 tertiary granule GO:0070820 9.54 STXBP3 STXBP2 STX7
33 specific granule GO:0042581 9.35 STXBP3 STXBP2 STX4 STX3 SNAP23
34 SNARE complex GO:0031201 9.32 VTI1B VAMP8 VAMP7 VAMP4 STX8 STX7

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.06 VTI1B VAMP8 VAMP7 STXBP3 STXBP2 STX11
2 neutrophil degranulation GO:0043312 10.04 VAMP8 VAMP7 UNC13D STXBP3 STXBP2 SNAP23
3 intracellular protein transport GO:0006886 9.92 VTI1B STXBP3 STXBP2 STX8 STX7 STX4
4 defense response to virus GO:0051607 9.89 VAMP8 UNC13D PRF1 LYST
5 membrane organization GO:0061024 9.81 VAMP8 VAMP7 VAMP4
6 membrane fusion GO:0061025 9.81 VTI1B STX3 STX11 SNAP23
7 cellular response to interferon-gamma GO:0071346 9.79 STXBP3 STX8 STX4
8 vesicle fusion GO:0006906 9.76 VAMP8 VAMP7 STX8 STX7 STX4 STX3
9 neurotransmitter secretion GO:0007269 9.74 UNC13B STXBP3 STXBP2
10 regulation of protein localization to plasma membrane GO:1903076 9.73 VTI1B VAMP8 STX8 STX7
11 vesicle docking involved in exocytosis GO:0006904 9.72 VTI1B STXBP3 STXBP2
12 autophagosome maturation GO:0097352 9.71 VTI1B VAMP8 VAMP7
13 post-Golgi vesicle-mediated transport GO:0006892 9.71 VAMP8 VAMP7 STX4 SNAP23
14 SNARE complex assembly GO:0035493 9.7 VAMP8 VAMP4 STX4
15 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.67 STX4 STX3 STX11 SNAP23
16 natural killer cell degranulation GO:0043320 9.65 VAMP7 UNC13D RAB27A
17 vesicle docking GO:0048278 9.65 STX8 STX7 STX4 STX3 STX11
18 exocytosis GO:0006887 9.65 VAMP7 UNC13D UNC13B STXBP3 STXBP2 STX4
19 positive regulation of exocytosis GO:0045921 9.64 UNC13D RAB27A
20 positive regulation of chemotaxis GO:0050921 9.63 STX4 STX3
21 positive regulation of protein localization to cell surface GO:2000010 9.63 STX4 STX3
22 synaptic vesicle priming GO:0016082 9.62 UNC13B SNAP23
23 synaptic vesicle docking GO:0016081 9.61 UNC13B STX3
24 regulation of mast cell degranulation GO:0043304 9.61 UNC13D STXBP2
25 vesicle fusion with Golgi apparatus GO:0048280 9.6 VTI1B VAMP7
26 positive regulation of histamine secretion by mast cell GO:1903595 9.58 VAMP8 VAMP7
27 positive regulation of regulated secretory pathway GO:1903307 9.58 UNC13D RAB27A
28 eosinophil degranulation GO:0043308 9.56 VAMP8 VAMP7
29 vesicle-mediated transport GO:0016192 9.4 VTI1B VAMP8 VAMP7 VAMP4 STXBP3 STXBP2

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 VTI1B VAMP8 VAMP7 VAMP4 UNC13D UNC13B
2 SNARE binding GO:0000149 9.7 VTI1B VAMP7 STX8 STX7 STX4 STX3
3 chloride channel inhibitor activity GO:0019869 9.56 VTI1B VAMP8 STX8 STX7
4 syntaxin-1 binding GO:0017075 9.5 UNC13B STXBP3 STXBP2
5 syntaxin binding GO:0019905 9.5 VAMP8 VAMP7 STXBP3 STXBP2 STX8 STX7
6 SNAP receptor activity GO:0005484 9.28 VTI1B VAMP8 VAMP7 STX8 STX7 STX4

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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