FHL4
MCID: HMP014
MIFTS: 37

Hemophagocytic Lymphohistiocytosis, Familial, 4 (FHL4) malady

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 4

Aliases & Descriptions for Hemophagocytic Lymphohistiocytosis, Familial, 4:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 4 54 50 13 69
Familial Hemophagocytic Lymphohistiocytosis 4 12 24 66 29 14
Hplh4 12 50 66
Fhl4 12 24 66
Hlh4 12 50 66

Characteristics:

HPO:

32
hemophagocytic lymphohistiocytosis, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 603552
Disease Ontology 12 DOID:0110924
MedGen 40 C1863728
MeSH 42 D051359

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 4

OMIM : 54 Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5... (603552) more...

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 4, also known as familial hemophagocytic lymphohistiocytosis 4, is related to hemophagocytic lymphohistiocytosis, familial, 1 and autoimmune disease of gastrointestinal tract, and has symptoms including fever, seizures and muscular hypotonia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 4 is STX11 (Syntaxin 11), and among its related pathways/superpathways is Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. The drugs Tacrolimus and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include nk cells.

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

UniProtKB/Swiss-Prot : 66 Familial hemophagocytic lymphohistiocytosis 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

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

Symptoms by clinical synopsis from OMIM:

603552

Clinical features from OMIM:

603552

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 seizures 32 HP:0001250
3 muscular hypotonia 32 HP:0001252
4 global developmental delay 32 HP:0001263
5 splenomegaly 32 HP:0001744
6 hepatomegaly 32 HP:0002240
7 hypertriglyceridemia 32 HP:0002155
8 anemia 32 HP:0001903
9 thrombocytopenia 32 HP:0001873
10 neutropenia 32 HP:0001875
11 increased serum ferritin 32 HP:0003281
12 hemophagocytosis 32 HP:0012156
13 hypofibrinogenemia 32 HP:0011900

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 4:


fever

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 4

Drugs for Hemophagocytic Lymphohistiocytosis, Familial, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
2
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
3
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
4
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
5
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
6
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
7
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
8
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
9
Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
10
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
11 Prednisolone acetate Phase 1, Phase 2
12 Alkylating Agents Phase 2,Phase 1
13 glucocorticoids Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Neuroprotective Agents Phase 1, Phase 2
16 Hormone Antagonists Phase 1, Phase 2
17 Hormones Phase 1, Phase 2
18 Peripheral Nervous System Agents Phase 1, Phase 2
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
20 Pharmaceutical Solutions Phase 1, Phase 2
21 Prednisolone hemisuccinate Phase 1, Phase 2
22 Prednisolone phosphate Phase 1, Phase 2
23 Anti-Infective Agents Phase 2
24 Immunosuppressive Agents Phase 2,Phase 1
25 Protective Agents Phase 1, Phase 2
26 Antiemetics Phase 1, Phase 2
27 Anti-Inflammatory Agents Phase 1, Phase 2
28 Liver Extracts Phase 1, Phase 2
29 Antimetabolites Phase 2,Phase 1
30 Antimetabolites, Antineoplastic Phase 2,Phase 1
31 Methylprednisolone acetate Phase 1, Phase 2
32 Methylprednisolone Hemisuccinate Phase 1, Phase 2
33 Antirheumatic Agents Phase 2,Phase 1
34 Antineoplastic Agents, Alkylating Phase 2,Phase 1
35 Autonomic Agents Phase 1, Phase 2
36 Antineoplastic Agents, Hormonal Phase 1, Phase 2
37 Calcineurin Inhibitors Phase 1, Phase 2
38 Antiviral Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2
2 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
3 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 4

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 4:

id Genetic test Affiliating Genes
1 Hemophagocytic Lymphohistiocytosis, Familial, 4 29
2 Familial Hemophagocytic Lymphohistiocytosis 4 24 STX11

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

39
Nk Cells

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 4

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STX11 NM_003764.3(STX11): c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs) indel Pathogenic rs483352901 GRCh37 Chromosome 6, 144508133: 144508140
2 STX11 NC_000006.12: g.144176889_144196077del19189 deletion Pathogenic GRCh38 Chromosome 6, 144176889: 144196077
3 STX11 NM_003764.3(STX11): c.802C> T (p.Gln268Ter) single nucleotide variant Pathogenic rs104893996 GRCh37 Chromosome 6, 144508566: 144508566
4 STX11 NM_003764.3(STX11): c.173T> C (p.Leu58Pro) single nucleotide variant Pathogenic rs431905512 GRCh37 Chromosome 6, 144507937: 144507937
5 STX11 NM_003764.3(STX11): c.391C> T (p.Gln131Ter) single nucleotide variant Likely pathogenic rs794729649 GRCh38 Chromosome 6, 144187018: 144187018

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.81 STX11 STX3 STX7

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 4

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

id Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 9.43 STX7 UNC13D
2 recycling endosome GO:0055037 9.4 STX7 UNC13D
3 synaptic vesicle GO:0008021 9.37 STX11 STX3
4 specific granule GO:0042581 9.32 STX3 STXBP2
5 zymogen granule membrane GO:0042589 9.26 STX3 STXBP2
6 tertiary granule GO:0070820 9.16 STX7 STXBP2
7 azurophil granule GO:0042582 9.13 STX3 STX7 STXBP2
8 SNARE complex GO:0031201 8.92 STX11 STX3 STX7 STXBP2

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

id Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.54 STX11 STX3 STX7
2 vesicle fusion GO:0006906 9.43 STX3 STX7
3 membrane fusion GO:0061025 9.4 STX11 STX3
4 exocytosis GO:0006887 9.33 STX3 STXBP2 UNC13D
5 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.32 STX11 STX3
6 regulation of mast cell degranulation GO:0043304 9.26 STXBP2 UNC13D
7 vesicle-mediated transport GO:0016192 9.26 STX11 STX3 STX7 STXBP2
8 vesicle docking GO:0048278 8.8 STX11 STX3 STX7

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

id Name GO ID Score Top Affiliating Genes
1 SNARE binding GO:0000149 9.13 STX11 STX3 STX7
2 SNAP receptor activity GO:0005484 8.8 STX11 STX3 STX7

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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