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FHL5
MCID: HMP023
MIFTS: 42

Hemophagocytic Lymphohistiocytosis, Familial, 5 (FHL5)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 5

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MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 5:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 5 57 72 29 13 6 70
Fhl5 57 12 72
Familial Hemophagocytic Lymphohistiocytosis 5 12 15
Hplh5 12 72
Hlh5 12 72
Lymphohistiocytosis, Hemophagocytic, Familial, Type 5 39

Characteristics:

HPO:

31
hemophagocytic lymphohistiocytosis, familial, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Liver diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110925
OMIM® 57 613101
OMIM Phenotypic Series 57 PS267700
MeSH 44 D051359
MedGen 41 C2751293
UMLS 70 C2751293
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Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 5

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UniProtKB/Swiss-Prot : 72 Hemophagocytic lymphohistiocytosis, familial, 5: 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.

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 5, also known as fhl5, is related to hemophagocytic lymphohistiocytosis and diarrhea 2, with microvillus atrophy. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 5 is STXBP2 (Syntaxin Binding Protein 2), and among its related pathways/superpathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include liver, nk cells and neutrophil, and related phenotypes are splenomegaly and anemia

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in a mutation of STXBP2 on chromosome 19p13.2.

More information from OMIM: 613101 PS267700
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Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 5

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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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis 29.7 UNC13D STXBP2 STX11
2 diarrhea 2, with microvillus atrophy 29.6 STXBP2 STX3
3 hemophagocytic lymphohistiocytosis, familial, 1 29.6 UNC13D STXBP2 STX11
4 hemophagocytic lymphohistiocytosis, familial, 4 28.6 VAMP8 UNC13D STXBP2 STX3 STX11
5 migraine without aura 11.1
6 migraine with aura 11.1
7 migraine with or without aura 1 11.0
8 mitochondrial complex i deficiency, nuclear type 1 10.9
9 osmotic diarrhea 10.0 STXBP2 STX3
10 hemophagocytic lymphohistiocytosis, familial, 2 10.0 STXBP2 STX11
11 congenital diarrhea 10.0 STXBP2 STX3
12 lymphoproliferative syndrome 2 9.9 STXBP2 STX11
13 primary hemophagocytic lymphohistiocytosis 9.9 UNC13D STX11
14 selective immunoglobulin deficiency disease 9.9 UNC13D STXBP2
15 autosomal recessive disease 9.9
16 hemophagocytic lymphohistiocytosis, familial, 3 9.9 UNC13D STX11
17 acute hemorrhagic encephalitis 9.7 UNC13D STXBP2 STX11
18 leukodystrophy, hypomyelinating, 6 9.7 VAMP8 STX3
19 lymphoproliferative syndrome 1 9.7 UNC13D STXBP2 STX11
20 lymphoproliferative syndrome, x-linked, 2 9.7 UNC13D STXBP2 STX11
21 lymphoproliferative syndrome, x-linked, 1 9.7 UNC13D STXBP2 STX11
22 griscelli syndrome, type 2 9.7 UNC13D STXBP2 STX11
23 griscelli syndrome 9.7 UNC13D STXBP2 STX11
24 piebald trait 9.7 UNC13D STXBP2 STX11
25 chediak-higashi syndrome 9.7 UNC13D STXBP2 STX11
26 pancytopenia 9.7 UNC13D STXBP2 STX11
27 trichohepatoenteric syndrome 1 9.6 UNC13D STXBP2
28 hermansky-pudlak syndrome 9.4 VAMP8 UNC13D STXBP2 STX11

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 5:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 5
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Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 anemia 31 very rare (1%) HP:0001903
3 thrombocytopenia 31 very rare (1%) HP:0001873
4 lymphadenopathy 31 very rare (1%) HP:0002716
5 colitis 31 very rare (1%) HP:0002583
6 recurrent sinusitis 31 very rare (1%) HP:0011108
7 low-frequency sensorineural hearing impairment 31 very rare (1%) HP:0008573
8 abnormal pulmonary interstitial morphology 31 very rare (1%) HP:0006530
9 decreased circulating antibody level 31 very rare (1%) HP:0004313
10 hypertriglyceridemia 31 HP:0002155
11 hepatosplenomegaly 31 HP:0001433
12 recurrent fever 31 HP:0001954
13 hemophagocytosis 31 HP:0012156
14 increased circulating ferritin concentration 31 HP:0003281
15 abnormal natural killer cell physiology 31 HP:0012177

Clinical features from OMIM®:

613101 (Updated 20-May-2021)

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Search Clinical Trials , NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

# Genetic test Affiliating Genes
1 Hemophagocytic Lymphohistiocytosis, Familial, 5 29 STXBP2
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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 5

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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

40
Liver, Nk Cells, Neutrophil, Prostate
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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

(show all 38)
# Title Authors PMID Year
1
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 6 57 61
20798128 2010
2
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 57 6 61
19884660 2009
3
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 57 6
19804848 2009
4
Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 61 6
24194549 2013
5
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. 6 61
23382066 2013
6
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). 6 61
22451424 2012
7
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis. 57
32374962 2020
8
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing. 6
29599780 2018
9
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. 6
28353193 2017
10
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017
11
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. 6
23687090 2013
12
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 6
20823128 2010
13
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 6
20558610 2010
14
Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation. 57
19252534 2009
15
Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin. 57
19353621 2009
16
Common variants in KCNK5 and FHL5 genes contributed to the susceptibility of migraine without aura in Han Chinese population. 61
33762637 2021
17
Transcriptomic Heterogeneity of Alzheimer's Disease Associated with Lipid Genetic Risk. 61
32862331 2020
18
Development of gene therapy with a cyclic adenosine monophosphate response element decoy oligodeoxynucleotide to prevent vascular intimal hyperplasia. 61
31204215 2020
19
Network-based analysis of prostate cancer cell lines reveals novel marker gene candidates associated with radioresistance and patient relapse. 61
31682594 2019
20
A comprehensive understanding of ovarian carcinoma survival prognosis by novel biomarkers. 61
31646556 2019
21
Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D. 61
32245292 2019
22
Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5. 61
29776323 2018
23
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. 61
28724787 2017
24
Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. 61
26660531 2016
25
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. 61
26451869 2016
26
Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes. 61
26771955 2015
27
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. 61
25491289 2015
28
Association of genetic loci for migraine susceptibility in the she people of China. 61
26231841 2015
29
Genome-wide meta-analysis identifies new susceptibility loci for migraine. 61
23793025 2013
30
Cyclic adenosine monophosphate response-element binding protein activation by mitogen-activated protein kinase-activated protein kinase 3 and four-and-a-half LIM domains 5 plays a key role for vein graft intimal hyperplasia. 61
23127979 2013
31
Munc18b/STXBP2 is required for platelet secretion. 61
22791290 2012
32
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. 61
22970278 2012
33
Angeborene hämophagozytische Lymphohistiozytose (HLH). 61
20458667 2010
34
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 61
21152410 2010
35
Fhl5/Act, a CREM-binding transcriptional activator required for normal sperm maturation and morphology, is not essential for testicular gene expression. 61
19930692 2009
36
Comparative integromics on Eph family. 61
16596241 2006
37
Hemophagocytic Lymphohistiocytosis, Familial – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301617 2006
38
FHL5, a novel actin-binding protein, is highly expressed in eel gill pillar cells and responds to wall tension. 61
15284080 2004
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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 5

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ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 5:

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STXBP2 NM_006949.4(STXBP2):c.693_695del (p.Ile232del) Deletion Pathogenic 7859 rs1599398298 GRCh37: 19:7707117-7707119
GRCh38: 19:7642231-7642233
2 STXBP2 STXBP2, IVS14AS, G-C, -1 SNV Pathogenic 7860 GRCh37:
GRCh38:
3 STXBP2 NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro) SNV Pathogenic 7861 rs121918541 GRCh37: 19:7706967-7706967
GRCh38: 19:7642081-7642081
4 STXBP2 NM_006949.4(STXBP2):c.260del (p.Leu87fs) Deletion Pathogenic 7862 rs1599395085 GRCh37: 19:7705630-7705630
GRCh38: 19:7640744-7640744
5 STXBP2 STXBP2, 1-BP DEL, 706G Deletion Pathogenic 7863 GRCh37:
GRCh38:
6 STXBP2 NM_006949.4(STXBP2):c.134del (p.Cys45fs) Deletion Pathogenic 565320 rs1568463402 GRCh37: 19:7703951-7703951
GRCh38: 19:7639065-7639065
7 STXBP2 NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) SNV Pathogenic 538148 rs773360200 GRCh37: 19:7709606-7709606
GRCh38: 19:7644720-7644720
8 STXBP2 NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) Deletion Pathogenic 538150 rs1555769166 GRCh37: 19:7704659-7704660
GRCh38: 19:7639773-7639774
9 STXBP2 NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) Indel Pathogenic 662726 rs1599397070 GRCh37: 19:7706635-7706644
GRCh38: 19:7641749-7641758
10 STXBP2 NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) Deletion Pathogenic 949674 GRCh37: 19:7704631-7704634
GRCh38: 19:7639745-7639748
11 STXBP2 NM_006949.4(STXBP2):c.1247-1G>C SNV Pathogenic 330555 rs140148806 GRCh37: 19:7710082-7710082
GRCh38: 19:7645196-7645196
12 STXBP2 NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) SNV Pathogenic 30219 rs61736587 GRCh37: 19:7712322-7712322
GRCh38: 19:7647436-7647436
13 STXBP2 NM_006949.4(STXBP2):c.156_168dup (p.Ile57Ter) Duplication Pathogenic 998257 GRCh37: 19:7703971-7703972
GRCh38: 19:7639085-7639086
14 STXBP2 NM_006949.4(STXBP2):c.607del (p.His203fs) Deletion Pathogenic 1029119 GRCh37: 19:7706946-7706946
GRCh38: 19:7642060-7642060
15 STXBP2 NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) SNV Pathogenic 7858 rs121918540 GRCh37: 19:7711208-7711208
GRCh38: 19:7646322-7646322
16 STXBP2 NM_006949.4(STXBP2):c.247-2A>C SNV Likely pathogenic 857426 GRCh37: 19:7705615-7705615
GRCh38: 19:7640729-7640729
17 STXBP2 NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) SNV Conflicting interpretations of pathogenicity 417965 rs370053399 GRCh37: 19:7706729-7706729
GRCh38: 19:7641843-7641843
18 STXBP2 NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) SNV Conflicting interpretations of pathogenicity 287855 rs148868283 GRCh37: 19:7712270-7712270
GRCh38: 19:7647384-7647384
19 STXBP2 NM_006949.4(STXBP2):c.333C>T (p.Pro111=) SNV Conflicting interpretations of pathogenicity 330548 rs144233139 GRCh37: 19:7705793-7705793
GRCh38: 19:7640907-7640907
20 STXBP2 NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) SNV Conflicting interpretations of pathogenicity 330557 rs146425381 GRCh37: 19:7712050-7712050
GRCh38: 19:7647164-7647164
21 STXBP2 NM_006949.4(STXBP2):c.1027-10C>T SNV Conflicting interpretations of pathogenicity 330553 rs201961771 GRCh37: 19:7708041-7708041
GRCh38: 19:7643155-7643155
22 STXBP2 NM_006949.4(STXBP2):c.1452+7G>T SNV Conflicting interpretations of pathogenicity 758650 rs746604591 GRCh37: 19:7711237-7711237
GRCh38: 19:7646351-7646351
23 STXBP2 NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) SNV Conflicting interpretations of pathogenicity 330562 rs750599225 GRCh37: 19:7712372-7712372
GRCh38: 19:7647486-7647486
24 STXBP2 NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) SNV Conflicting interpretations of pathogenicity 260106 rs146165014 GRCh37: 19:7703623-7703623
GRCh38: 19:7638737-7638737
25 STXBP2 NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) SNV Conflicting interpretations of pathogenicity 892710 GRCh37: 19:7706944-7706944
GRCh38: 19:7642058-7642058
26 STXBP2 NM_006949.4(STXBP2):c.1423T>C (p.Trp475Arg) SNV Uncertain significance 1052728 GRCh37: 19:7711201-7711201
GRCh38: 19:7646315-7646315
27 STXBP2 NM_006949.4(STXBP2):c.1531G>A (p.Ala511Thr) SNV Uncertain significance 1056501 GRCh37: 19:7712126-7712126
GRCh38: 19:7647240-7647240
28 STXBP2 NM_006949.4(STXBP2):c.1356+4C>T SNV Uncertain significance 1060581 GRCh37: 19:7710196-7710196
GRCh38: 19:7645310-7645310
29 STXBP2 NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp) SNV Uncertain significance 1062421 GRCh37: 19:7705796-7705796
GRCh38: 19:7640910-7640910
30 STXBP2 NM_006949.4(STXBP2):c.1089G>C (p.Lys363Asn) SNV Uncertain significance 1062658 GRCh37: 19:7708113-7708113
GRCh38: 19:7643227-7643227
31 STXBP2 NM_006949.4(STXBP2):c.808G>T (p.Gly270Trp) SNV Uncertain significance 1064395 GRCh37: 19:7707328-7707328
GRCh38: 19:7642442-7642442
32 STXBP2 NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) SNV Uncertain significance 538149 rs542557411 GRCh37: 19:7711171-7711171
GRCh38: 19:7646285-7646285
33 STXBP2 NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) SNV Uncertain significance 640802 rs141717050 GRCh37: 19:7704641-7704641
GRCh38: 19:7639755-7639755
34 STXBP2 NM_006949.4(STXBP2):c.575G>A (p.Arg192His) SNV Uncertain significance 659435 rs113860815 GRCh37: 19:7706736-7706736
GRCh38: 19:7641850-7641850
35 STXBP2 NM_006949.4(STXBP2):c.1071C>T (p.Phe357=) SNV Uncertain significance 1029120 GRCh37: 19:7708095-7708095
GRCh38: 19:7643209-7643209
36 STXBP2 NM_006949.4(STXBP2):c.36A>G (p.Glu12=) SNV Uncertain significance 1036793 GRCh37: 19:7702071-7702071
GRCh38: 19:7637185-7637185
37 STXBP2 NM_006949.4(STXBP2):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 1036916 GRCh37: 19:7712064-7712064
GRCh38: 19:7647178-7647178
38 STXBP2 NM_006949.4(STXBP2):c.190C>T (p.Arg64Trp) SNV Uncertain significance 1037354 GRCh37: 19:7704637-7704637
GRCh38: 19:7639751-7639751
39 STXBP2 NM_006949.4(STXBP2):c.821C>T (p.Ala274Val) SNV Uncertain significance 1038666 GRCh37: 19:7707341-7707341
GRCh38: 19:7642455-7642455
40 STXBP2 NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser) SNV Uncertain significance 1038807 GRCh37: 19:7706976-7706976
GRCh38: 19:7642090-7642090
41 STXBP2 NM_006949.4(STXBP2):c.612C>A (p.Ala204=) SNV Uncertain significance 1041477 GRCh37: 19:7706953-7706953
GRCh38: 19:7642067-7642067
42 STXBP2 NM_006949.4(STXBP2):c.1067A>G (p.His356Arg) SNV Uncertain significance 1041696 GRCh37: 19:7708091-7708091
GRCh38: 19:7643205-7643205
43 STXBP2 NM_006949.4(STXBP2):c.1064A>T (p.Lys355Met) SNV Uncertain significance 1041710 GRCh37: 19:7708088-7708088
GRCh38: 19:7643202-7643202
44 STXBP2 NM_006949.4(STXBP2):c.1681T>C (p.Trp561Arg) SNV Uncertain significance 1041903 GRCh37: 19:7712382-7712382
GRCh38: 19:7647496-7647496
45 STXBP2 NM_006949.4(STXBP2):c.1514C>T (p.Thr505Met) SNV Uncertain significance 1043772 GRCh37: 19:7712109-7712109
GRCh38: 19:7647223-7647223
46 overlap with 26 genes NC_000019.9:g.(?_7587617)_(8373194_?)dup Duplication Uncertain significance 831037 GRCh37: 19:7587617-8373194
GRCh38:
47 STXBP2 NM_006949.4(STXBP2):c.1453G>A (p.Asp485Asn) SNV Uncertain significance 1044442 GRCh37: 19:7712048-7712048
GRCh38: 19:7647162-7647162
48 STXBP2 NM_006949.4(STXBP2):c.291C>A (p.Phe97Leu) SNV Uncertain significance 1046705 GRCh37: 19:7705661-7705661
GRCh38: 19:7640775-7640775
49 STXBP2 NM_006949.4(STXBP2):c.1210A>G (p.Ile404Val) SNV Uncertain significance 1047272 GRCh37: 19:7709602-7709602
GRCh38: 19:7644716-7644716
50 STXBP2 NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) SNV Uncertain significance 836096 GRCh37: 19:7712090-7712090
GRCh38: 19:7647204-7647204

UniProtKB/Swiss-Prot genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 5:

72
# Symbol AA change Variation ID SNP ID
1 STXBP2 p.Leu209Pro VAR_063814 rs121918541
2 STXBP2 p.Arg292His VAR_063816 rs746897867
3 STXBP2 p.Arg405Gln VAR_063817 rs773360200
4 STXBP2 p.Arg405Trp VAR_063818 rs769717341
5 STXBP2 p.Pro477Leu VAR_063819 rs121918540

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Expression for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 5.
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Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics 60
Show member pathways
 10.8 VAMP8 STX3 STX11
2
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 23
10.03 VAMP8 UNC13D
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GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 9.46 STXBP2 STX3
2 endomembrane system GO:0012505 9.43 STX3 STX11
3 synaptic vesicle GO:0008021 9.4 STX3 STX11
4 recycling endosome GO:0055037 9.37 VAMP8 UNC13D
5 secretory granule GO:0030141 9.32 STXBP2 STX3
6 specific granule GO:0042581 9.26 STXBP2 STX3
7 presynaptic active zone membrane GO:0048787 9.16 STX3 STX11
8 azurophil granule GO:0042582 8.96 STXBP2 STX3
9 SNARE complex GO:0031201 8.8 VAMP8 STX3 STX11

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.65 VAMP8 STXBP2 STX11
2 neutrophil degranulation GO:0043312 9.63 VAMP8 UNC13D STXBP2
3 intracellular protein transport GO:0006886 9.58 STXBP2 STX3 STX11
4 vesicle-mediated transport GO:0016192 9.46 VAMP8 STXBP2 STX3 STX11
5 membrane fusion GO:0061025 9.43 STX3 STX11
6 vesicle docking GO:0048278 9.37 STX3 STX11
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.32 STX3 STX11
8 regulation of mast cell degranulation GO:0043304 9.26 UNC13D STXBP2
9 vesicle fusion GO:0006906 9.13 VAMP8 STX3 STX11
10 exocytosis GO:0006887 8.92 UNC13D STXBP2 STX3 STX11

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SNARE binding GO:0000149 9.16 STX3 STX11
2 syntaxin binding GO:0019905 8.96 VAMP8 STXBP2
3 SNAP receptor activity GO:0005484 8.8 VAMP8 STX3 STX11
Sources

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 5

About this section
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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