Hemophagocytic Lymphohistiocytosis, Familial, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMP023 MIFTS: 27	Hemophagocytic Lymphohistiocytosis, Familial, 5 Categories: Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Neuronal diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613101

Disease Ontology ¹² DOID:0110925

MedGen ⁴² C2751293

MeSH ⁴⁴ D051359

SNOMED-CT via HPO ⁶⁹ 258211005 36760000 77957000 more

UMLS ⁷³ C2751293

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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

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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

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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 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

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 5

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

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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

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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 5

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Genes for Hemophagocytic Lymphohistiocytosis, Familial, 5

Genes related to Hemophagocytic Lymphohistiocytosis, Familial, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	STXBP2	Syntaxin Binding Protein 2	Protein Coding	1326.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	19804848 20301617 19884660 (more) 20798128
2	STX3	Syntaxin 3	Protein Coding	16.9	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SLC2A5	Solute Carrier Family 2 Member 5	Protein Coding	16.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	FAP	Fibroblast Activation Protein Alpha	Protein Coding	15.65	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	15.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	DPP4	Dipeptidyl Peptidase 4	Protein Coding	14.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Expression for Hemophagocytic Lymphohistiocytosis, Familial, 5

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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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

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