MCID: HMP023
MIFTS: 27

Hemophagocytic Lymphohistiocytosis, Familial, 5

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 5

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 5:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 5 57 29 13 6 73
Familial Hemophagocytic Lymphohistiocytosis 5 12 75 15
Fhl5 57 12 75
Hplh5 12 75
Hlh5 12 75
Lymphohistiocytosis, Hemophagocytic, Familial, Type 5 40

Characteristics:

HPO:

32
hemophagocytic lymphohistiocytosis, familial, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613101
Disease Ontology 12 DOID:0110925
MedGen 42 C2751293
MeSH 44 D051359
UMLS 73 C2751293

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 5

UniProtKB/Swiss-Prot : 75 Familial hemophagocytic lymphohistiocytosis 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 familial hemophagocytic lymphohistiocytosis 5, is related to hemophagocytic lymphohistiocytosis and congenital diarrhea. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 5 is STXBP2 (Syntaxin Binding Protein 2). Related phenotypes are hepatosplenomegaly and episodic fever

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

Description from OMIM: 613101

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis 10.0
2 congenital diarrhea 9.3 SLC9A3 STX3
3 osmotic diarrhea 9.1 SLC9A3 STXBP2
4 diarrhea 2, with microvillus atrophy 8.9 SLC9A3 STX3 STXBP2

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 5

Clinical features from OMIM:

613101

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hepatosplenomegaly 32 HP:0001433
2 episodic fever 32 HP:0001954
3 hypertriglyceridemia 32 HP:0002155
4 increased serum ferritin 32 HP:0003281
5 hemophagocytosis 32 HP:0012156
6 abnormal natural killer cell physiology 32 HP:0012177

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 5

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 5:

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

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 5

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 5

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

75
# 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

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

6
(show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 STXBP2 NM_006949.3(STXBP2): c.1430C> T (p.Pro477Leu) single nucleotide variant Pathogenic rs121918540 GRCh37 Chromosome 19, 7711208: 7711208
2 STXBP2 NM_006949.3(STXBP2): c.1430C> T (p.Pro477Leu) single nucleotide variant Pathogenic rs121918540 GRCh38 Chromosome 19, 7646322: 7646322
3 STXBP2 STXBP2, 3-BP DEL, 693GAT deletion Pathogenic
4 STXBP2 STXBP2, IVS14AS, G-C, -1 single nucleotide variant Pathogenic
5 STXBP2 NM_006949.3(STXBP2): c.626T> C (p.Leu209Pro) single nucleotide variant Pathogenic rs121918541 GRCh37 Chromosome 19, 7706967: 7706967
6 STXBP2 NM_006949.3(STXBP2): c.626T> C (p.Leu209Pro) single nucleotide variant Pathogenic rs121918541 GRCh38 Chromosome 19, 7642081: 7642081
7 STXBP2 STXBP2, 1-BP DEL, 260T deletion Pathogenic
8 STXBP2 STXBP2, 1-BP DEL, 706G deletion Pathogenic
9 STXBP2 NM_006949.3(STXBP2): c.1621G> A (p.Gly541Ser) single nucleotide variant Pathogenic rs61736587 GRCh37 Chromosome 19, 7712322: 7712322
10 STXBP2 NM_006949.3(STXBP2): c.1621G> A (p.Gly541Ser) single nucleotide variant Pathogenic rs61736587 GRCh38 Chromosome 19, 7647436: 7647436
11 STXBP2 NM_006949.3(STXBP2): c.795-4C> T single nucleotide variant Benign rs151257815 GRCh37 Chromosome 19, 7707311: 7707311
12 STXBP2 NM_006949.3(STXBP2): c.795-4C> T single nucleotide variant Benign rs151257815 GRCh38 Chromosome 19, 7642425: 7642425
13 STXBP2 NM_006949.3(STXBP2): c.1034C> T (p.Thr345Met) single nucleotide variant Benign/Likely benign rs117761837 GRCh37 Chromosome 19, 7708058: 7708058
14 STXBP2 NM_006949.3(STXBP2): c.1034C> T (p.Thr345Met) single nucleotide variant Benign/Likely benign rs117761837 GRCh38 Chromosome 19, 7643172: 7643172
15 STXBP2 NM_006949.3(STXBP2): c.1298C> T (p.Ala433Val) single nucleotide variant Benign/Likely benign rs141309384 GRCh37 Chromosome 19, 7710134: 7710134
16 STXBP2 NM_006949.3(STXBP2): c.1298C> T (p.Ala433Val) single nucleotide variant Benign/Likely benign rs141309384 GRCh38 Chromosome 19, 7645248: 7645248
17 STXBP2 NM_006949.3(STXBP2): c.49G> A (p.Gly17Arg) single nucleotide variant Benign rs146165014 GRCh38 Chromosome 19, 7638737: 7638737
18 STXBP2 NM_006949.3(STXBP2): c.49G> A (p.Gly17Arg) single nucleotide variant Benign rs146165014 GRCh37 Chromosome 19, 7703623: 7703623
19 STXBP2 NM_006949.3(STXBP2): c.495C> T (p.Arg165=) single nucleotide variant Benign/Likely benign rs2303116 GRCh38 Chromosome 19, 7641770: 7641770
20 STXBP2 NM_006949.3(STXBP2): c.495C> T (p.Arg165=) single nucleotide variant Benign/Likely benign rs2303116 GRCh37 Chromosome 19, 7706656: 7706656
21 STXBP2 NM_006949.3(STXBP2): c.609C> T (p.His203=) single nucleotide variant Benign rs113694233 GRCh38 Chromosome 19, 7642064: 7642064
22 STXBP2 NM_006949.3(STXBP2): c.609C> T (p.His203=) single nucleotide variant Benign rs113694233 GRCh37 Chromosome 19, 7706950: 7706950
23 STXBP2 NM_006949.3(STXBP2): c.816C> T (p.Ser272=) single nucleotide variant Benign rs78010345 GRCh38 Chromosome 19, 7642450: 7642450
24 STXBP2 NM_006949.3(STXBP2): c.816C> T (p.Ser272=) single nucleotide variant Benign rs78010345 GRCh37 Chromosome 19, 7707336: 7707336
25 STXBP2 NM_006949.3(STXBP2): c.849G> A (p.Glu283=) single nucleotide variant Conflicting interpretations of pathogenicity rs34450592 GRCh37 Chromosome 19, 7707369: 7707369
26 STXBP2 NM_006949.3(STXBP2): c.849G> A (p.Glu283=) single nucleotide variant Conflicting interpretations of pathogenicity rs34450592 GRCh38 Chromosome 19, 7642483: 7642483
27 STXBP2 NM_006949.3(STXBP2): c.1167C> T (p.Ile389=) single nucleotide variant Benign rs139160342 GRCh37 Chromosome 19, 7709559: 7709559
28 STXBP2 NM_006949.3(STXBP2): c.1167C> T (p.Ile389=) single nucleotide variant Benign rs139160342 GRCh38 Chromosome 19, 7644673: 7644673
29 STXBP2 NM_006949.3(STXBP2): c.1191G> A (p.Ala397=) single nucleotide variant Benign rs76836497 GRCh38 Chromosome 19, 7644697: 7644697
30 STXBP2 NM_006949.3(STXBP2): c.1191G> A (p.Ala397=) single nucleotide variant Benign rs76836497 GRCh37 Chromosome 19, 7709583: 7709583
31 STXBP2 NM_006949.3(STXBP2): c.1247-10C> T single nucleotide variant Benign/Likely benign rs61407177 GRCh38 Chromosome 19, 7645187: 7645187
32 STXBP2 NM_006949.3(STXBP2): c.1247-10C> T single nucleotide variant Benign/Likely benign rs61407177 GRCh37 Chromosome 19, 7710073: 7710073
33 STXBP2 NM_006949.3(STXBP2): c.1538+10C> T single nucleotide variant Benign/Likely benign rs139200597 GRCh38 Chromosome 19, 7647257: 7647257
34 STXBP2 NM_006949.3(STXBP2): c.1538+10C> T single nucleotide variant Benign/Likely benign rs139200597 GRCh37 Chromosome 19, 7712143: 7712143
35 STXBP2 NM_006949.3(STXBP2): c.1576A> G (p.Ile526Val) single nucleotide variant Benign rs6791 GRCh38 Chromosome 19, 7647391: 7647391
36 STXBP2 NM_006949.3(STXBP2): c.1576A> G (p.Ile526Val) single nucleotide variant Benign rs6791 GRCh37 Chromosome 19, 7712277: 7712277
37 STXBP2 NM_006949.3(STXBP2): c.1590G> A (p.Ala530=) single nucleotide variant Benign rs61736589 GRCh38 Chromosome 19, 7647405: 7647405
38 STXBP2 NM_006949.3(STXBP2): c.1590G> A (p.Ala530=) single nucleotide variant Benign rs61736589 GRCh37 Chromosome 19, 7712291: 7712291
39 STXBP2 NM_006949.3(STXBP2): c.1663A> G (p.Arg555Gly) single nucleotide variant Benign rs61736586 GRCh37 Chromosome 19, 7712364: 7712364
40 STXBP2 NM_006949.3(STXBP2): c.1663A> G (p.Arg555Gly) single nucleotide variant Benign rs61736586 GRCh38 Chromosome 19, 7647478: 7647478
41 STXBP2 NM_006949.3(STXBP2): c.358C> T (p.Arg120Cys) single nucleotide variant Uncertain significance rs140745219 GRCh37 Chromosome 19, 7705818: 7705818
42 STXBP2 NM_006949.3(STXBP2): c.358C> T (p.Arg120Cys) single nucleotide variant Uncertain significance rs140745219 GRCh38 Chromosome 19, 7640932: 7640932
43 STXBP2 NM_006949.3(STXBP2): c.1569G> A (p.Lys523=) single nucleotide variant Conflicting interpretations of pathogenicity rs148868283 GRCh37 Chromosome 19, 7712270: 7712270
44 STXBP2 NM_006949.3(STXBP2): c.1569G> A (p.Lys523=) single nucleotide variant Conflicting interpretations of pathogenicity rs148868283 GRCh38 Chromosome 19, 7647384: 7647384
45 STXBP2 NM_006949.3(STXBP2): c.1455C> T (p.Asp485=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425381 GRCh37 Chromosome 19, 7712050: 7712050
46 STXBP2 NM_006949.3(STXBP2): c.1455C> T (p.Asp485=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425381 GRCh38 Chromosome 19, 7647164: 7647164
47 STXBP2 NM_006949.3(STXBP2): c.1586G> C (p.Arg529Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs35490401 GRCh37 Chromosome 19, 7712287: 7712287
48 STXBP2 NM_006949.3(STXBP2): c.1586G> C (p.Arg529Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs35490401 GRCh38 Chromosome 19, 7647401: 7647401
49 STXBP2 NM_006949.3(STXBP2): c.613G> A (p.Val205Ile) single nucleotide variant Benign/Likely benign rs144586070 GRCh37 Chromosome 19, 7706954: 7706954
50 STXBP2 NM_006949.3(STXBP2): c.613G> A (p.Val205Ile) single nucleotide variant Benign/Likely benign rs144586070 GRCh38 Chromosome 19, 7642068: 7642068

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 5

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 DPP4 FAP SLC2A5 SLC9A3 STX3 STXBP2
2 plasma membrane GO:0005886 9.91 DPP4 FAP SLC2A5 SLC9A3 STX3 STXBP2
3 extracellular exosome GO:0070062 9.88 DPP4 SLC2A5 SLC9A3 STX3 STXBP2
4 cell surface GO:0009986 9.69 DPP4 FAP SLC9A3
5 lamellipodium GO:0030027 9.54 DPP4 FAP STX3
6 SNARE complex GO:0031201 9.46 STX3 STXBP2
7 lamellipodium membrane GO:0031258 9.4 DPP4 FAP
8 specific granule GO:0042581 9.32 STX3 STXBP2
9 azurophil granule GO:0042582 9.26 STX3 STXBP2
10 zymogen granule membrane GO:0042589 9.16 STX3 STXBP2
11 apical plasma membrane GO:0016324 9.02 DPP4 SLC2A5 SLC9A3 STX3 STXBP2
12 invadopodium membrane GO:0071438 8.96 DPP4 FAP

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

# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 9.16 STX3 STXBP2
2 endothelial cell migration GO:0043542 8.96 DPP4 FAP
3 negative regulation of extracellular matrix disassembly GO:0010716 8.62 DPP4 FAP

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.16 DPP4 FAP
2 protease binding GO:0002020 8.96 DPP4 FAP
3 dipeptidyl-peptidase activity GO:0008239 8.62 DPP4 FAP

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 5

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