FHL3
MCID: HMP013
MIFTS: 44

Hemophagocytic Lymphohistiocytosis, Familial, 3 (FHL3)

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 3

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 3:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 3 56 29 13 6 71
Familial Hemophagocytic Lymphohistiocytosis 3 12 73 15
Hplh3 56 12 73
Fhl3 56 12 73
Hlh3 56 12 73
Lymphohistiocytosis, Hemophagocytic, Familial, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
hemophagocytic lymphohistiocytosis, familial, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110923
OMIM 56 608898
OMIM Phenotypic Series 56 PS267700
MeSH 43 D051359
MedGen 41 C1837174
UMLS 71 C1837174

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 3

OMIM : 56 Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see 267700. (608898)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 3, also known as familial hemophagocytic lymphohistiocytosis 3, is related to hemophagocytic lymphohistiocytosis and hemophagocytic lymphohistiocytosis, familial, 2. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 3 is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include bone, liver and t cells, and related phenotypes are anemia and granulocytopenia

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in a mutation of UNC13D on chromosome 17q25.1.

UniProtKB/Swiss-Prot : 73 Familial hemophagocytic lymphohistiocytosis 3: 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, 3

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis 30.3 UNC13D UNC13B STX11 RAB27A
2 hemophagocytic lymphohistiocytosis, familial, 2 30.2 UNC13D UNC119 SYS1 STX11 CES1
3 hemophagocytic lymphohistiocytosis, familial, 1 29.2 UNC13D UNC119 SYS1 STX11 SIDT1 RAB27A
4 glycogen storage disease vii 11.2
5 holoprosencephaly 9 11.2
6 retinitis pigmentosa 37 11.2
7 glioma 10.3
8 glial tumor 10.3
9 selective immunoglobulin deficiency disease 10.2 UNC13D STX11
10 dysgammaglobulinemia 10.2 UNC13D STX11
11 mirror agnosia 10.1 FSCN1 CES1
12 breast cancer 10.1
13 hepatocellular carcinoma 10.1
14 pancreatic cancer 10.1
15 autosomal recessive disease 10.1
16 brain glioma 10.1
17 glioblastoma multiforme 10.1
18 astrocytoma 10.1
19 malignant glioma 10.1
20 pancreatic ductal adenocarcinoma 10.1
21 macrophage activation syndrome 10.1 UNC13D RAB27A
22 lymphoproliferative syndrome 1 10.0 UNC13D STX11
23 primary hemophagocytic lymphohistiocytosis 10.0 UNC13D STX11 RAB27A
24 lymphoproliferative syndrome, x-linked, 2 10.0 UNC13D STX11 RAB27A
25 lymphoproliferative syndrome, x-linked, 1 10.0 UNC13D STX11 RAB27A
26 piebald trait 9.9 UNC13D STX11 RAB27A
27 chediak-higashi syndrome 9.9 UNC13D STX11 RAB27A
28 pancytopenia 9.8 UNC13D STX11 RAB27A
29 griscelli syndrome 9.8 UNC13D UNC13B STX11 RAB27A
30 hemophagocytic lymphohistiocytosis, familial, 4 9.7 UNC13D UNC13B STX11 RAB27A
31 acrofacial dysostosis 1, nager type 9.7 UNC13B UNC119
32 griscelli syndrome, type 2 9.5 UNC13D UNC13B STX11 RAB27A CES1

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 3:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 3

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 3

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 anemia 31 very rare (1%) HP:0001903
2 granulocytopenia 31 very rare (1%) HP:0001913
3 reduced natural killer cell activity 31 very rare (1%) HP:0012178
4 fever 31 HP:0001945
5 hypertriglyceridemia 31 HP:0002155
6 hepatosplenomegaly 31 HP:0001433
7 hypofibrinogenemia 31 HP:0011900
8 hemophagocytosis 31 HP:0012156

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypertriglyceridemia
low fibrinogen levels

Abdomen Liver:
hepatosplenomegaly
liver dysfunction

Immunology:
overwhelming activation of t lymphocytes and macrophages associated with fever
activated (hla dr+) cd8+ t lymphocytes in peripheral blood
defective anti cd3-driven cytotoxic t-cell activity

Hematology:
pancytopenia
hemophagocytosis (in bone marrow or cerebrospinal fluid)

Abdomen Spleen:
hepatosplenomegaly

Clinical features from OMIM:

608898

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ASCL1 FSCN1 RAB27A UNC119

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older Adults Completed NCT02442479

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 3

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 3

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 3:

# Genetic test Affiliating Genes
1 Hemophagocytic Lymphohistiocytosis, Familial, 3 29 UNC13D

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 3

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 3:

40
Bone, Liver, T Cells, Bone Marrow, Skeletal Muscle, Nk Cells, Retina

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 3

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 3:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 61 56 6
16825436 2006
2
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 61 56 6
14622600 2003
3
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 56 6
16278825 2006
4
Hemophagocytic Lymphohistiocytosis, Familial 61 6
20301617 2006
5
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. 56
17993578 2008
6
PCBP2 promotes the development of glioma by regulating FHL3/TGF-β/Smad signaling pathway. 61
31693182 2020
7
FHL3 promotes pancreatic cancer invasion and metastasis through preventing the ubiquitination degradation of EMT associated transcription factors. 61
31935687 2020
8
Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency. 61
30892133 2019
9
Specific activation of PLEKHG2-induced serum response element-dependent gene transcription by four-and-a-half LIM domains (FHL) 1, but not FHL2 or FHL3. 61
28489964 2019
10
FHL3 negatively regulates the differentiation of skeletal muscle satellite cells in chicken. 61
31139537 2019
11
FHL3 links cell growth and self-renewal by modulating SOX4 in glioma. 61
29955125 2019
12
PBMCs transcriptome profiles identified breed-specific transcriptome signatures for PRRSV vaccination in German Landrace and Pietrain pigs. 61
31536525 2019
13
Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy. 61
29410181 2018
14
Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3. 61
29596912 2018
15
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis. 61
29549174 2018
16
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding. 61
28399723 2018
17
Predicting lithium treatment response in bipolar patients using gender-specific gene expression biomarkers and machine learning. 61
30828420 2018
18
[Familial Haemophagocytic Lymphohistiocytosis Occurs in A Fetus at His Third Trimester-A Case Report]. 61
29262924 2017
19
Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency. 61
29296930 2017
20
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. 61
28936583 2017
21
Hyperglycaemic memory affects the neurovascular unit of the retina in a diabetic mouse model. 61
28321468 2017
22
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. 61
27896523 2017
23
Familial haemophagocytosis lymphohisticytosis type 3: A case report. 61
27914778 2017
24
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. 61
26342526 2016
25
Bioinformatics investigation of therapeutic mechanisms of Xuesaitong capsule treating ischemic cerebrovascular rat model with comparative transcriptome analysis. 61
27347353 2016
26
FHL3 differentially regulates the expression of MyHC isoforms through interactions with MyoD and pCREB. 61
26499038 2016
27
The FHL2 regulation in the transcriptional circuitry of human cancers. 61
26211626 2015
28
Angiogenin promotes U87MG cell proliferation by activating NF-κB signaling pathway and downregulating its binding partner FHL3. 61
25659096 2015
29
Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection. 61
24825797 2014
30
Munc13-4 deficiency with CD5 downregulation on activated CD8+ T cells. 61
25252047 2014
31
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. 61
24470399 2014
32
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. 61
24842371 2014
33
Ribotrap analysis of proteins associated with FHL3 3'untranslated region in glioma cells. 61
24998228 2014
34
Identification and characterization of MT-1X as a novel FHL3-binding partner. 61
24690879 2014
35
Functional networks of nucleocytoplasmic transport-related genes differentiate ischemic and dilated cardiomyopathies. A new therapeutic opportunity. 61
25137373 2014
36
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders. 61
23810987 2013
37
The four and a half LIM family members are novel interactants of the human T-cell leukemia virus type 1 Tax oncoprotein. 61
23616667 2013
38
[Type III familial hemophagocytic lymphohistiocytosis susceptibility gene UNC13D involves in homologous recombination repair]. 61
23815924 2013
39
RNA-binding protein PCBP2 modulates glioma growth by regulating FHL3. 61
23585479 2013
40
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 61
23180437 2013
41
Identification and characterization of FHL3 as a novel angiogenin-binding partner. 61
22633874 2012
42
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. 61
21755595 2012
43
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. 61
22294731 2012
44
Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1. 61
22219185 2012
45
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. 61
22970278 2012
46
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 61
21931115 2011
47
Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis. 61
21863286 2011
48
Downregulation and antiproliferative role of FHL3 in breast cancer. 61
22362714 2011
49
Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein. 61
21653941 2011
50
The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane. 61
21693760 2011

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 3

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 3:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UNC13D NM_199242.2(UNC13D):c.1828_1839del (p.Arg610_Gln613del)deletion Pathogenic 1996 rs796065024 17:73831499-73831510 17:75835418-75835429
2 UNC13D NM_199242.2(UNC13D):c.216del (p.Asn73fs)deletion Pathogenic 1997 rs796065025 17:73839285-73839285 17:75843204-75843204
3 UNC13D NM_199242.2(UNC13D):c.1754dup (p.His586fs)duplication Pathogenic 1998 rs796065026 17:73831583-73831584 17:75835502-75835503
4 UNC13D NM_199242.2(UNC13D):c.1389+1G>ASNV Pathogenic 1999 rs777759523 17:73832419-73832419 17:75836338-75836338
5 UNC13D NM_199242.2(UNC13D):c.766C>T (p.Arg256Ter)SNV Pathogenic 2000 rs121434352 17:73836398-73836398 17:75840317-75840317
6 UNC13D NM_199242.2(UNC13D):c.753+1G>TSNV Pathogenic 2001 rs201908137 17:73836587-73836587 17:75840506-75840506
7 UNC13D NM_199242.2(UNC13D):c.1208T>C (p.Leu403Pro)SNV Pathogenic 2002 rs121434353 17:73832743-73832743 17:75836662-75836662
8 UNC13D NM_199242.2(UNC13D):c.2570T>G (p.Phe857Cys)SNV Pathogenic 2003 rs121434354 17:73827234-73827234 17:75831153-75831153
9 UNC13D NM_199242.2(UNC13D):c.2695C>T (p.Arg899Ter)SNV Pathogenic 325247 rs766657895 17:73826673-73826673 17:75830592-75830592
10 UNC13D NM_199242.2(UNC13D):c.2346_2349del (p.Arg782fs)deletion Pathogenic 420155 rs764196809 17:73830174-73830177 17:75834093-75834096
11 UNC13D NM_199242.2(UNC13D):c.118-308C>TSNV Pathogenic 533095 rs959968589 17:73839908-73839908 17:75843827-75843827
12 UNC13D NM_199242.2(UNC13D):c.1472T>A (p.Leu491Ter)SNV Pathogenic 533091 rs1555601754 17:73832165-73832165 17:75836084-75836084
13 UNC13D NM_199242.2(UNC13D):c.2293G>T (p.Glu765Ter)SNV Pathogenic 580834 rs763117746 17:73830411-73830411 17:75834330-75834330
14 UNC13D NM_199242.2(UNC13D):c.3011_3014dup (p.Tyr1006fs)duplication Pathogenic 569875 rs1567816070 17:73825004-73825005 17:75828923-75828924
15 UNC13D NM_199242.2(UNC13D):c.1768C>T (p.Gln590Ter)SNV Pathogenic 573522 rs1567818774 17:73831570-73831570 17:75835489-75835489
16 UNC13D NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA (p.Gly753fs)indel Pathogenic 566475 rs1567818219 17:73830437-73830446 17:75834356-75834365
17 UNC13D NM_199242.2(UNC13D):c.520C>T (p.Gln174Ter)SNV Pathogenic 664792 17:73838563-73838563 17:75842482-75842482
18 UNC13D NM_199242.2(UNC13D):c.2447+1G>ASNV Likely pathogenic 639780 17:73829046-73829046 17:75832965-75832965
19 UNC13D NM_199242.2(UNC13D):c.859-1G>CSNV Likely pathogenic 651539 17:73836192-73836192 17:75840111-75840111
20 UNC13D NM_199242.2(UNC13D):c.569+5G>ASNV Likely pathogenic 647023 17:73838509-73838509 17:75842428-75842428
21 UNC13D NM_199242.2(UNC13D):c.498del (p.Glu167fs)deletion Likely pathogenic 804423 17:73838585-73838585 17:75842504-75842504
22 UNC13D NM_199242.2(UNC13D):c.247C>T (p.Arg83Ter)SNV Likely pathogenic 631788 rs1274685768 17:73839254-73839254 17:75843173-75843173
23 UNC13D NM_199242.2(UNC13D):c.1727+1G>ASNV Likely pathogenic 533098 rs754882266 17:73831727-73831727 17:75835646-75835646
24 UNC13D NM_199242.2(UNC13D):c.1299-1G>ASNV Likely pathogenic 440775 rs1555601863 17:73832511-73832511 17:75836430-75836430
25 UNC13D NM_199242.2(UNC13D):c.2709+1G>ASNV Likely pathogenic 440834 rs1555600214 17:73826658-73826658 17:75830577-75830577
26 UNC13D NM_199242.2(UNC13D):c.2180G>A (p.Arg727Gln)SNV Conflicting interpretations of pathogenicity 325256 rs747390615 17:73830524-73830524 17:75834443-75834443
27 UNC13D NM_199242.2(UNC13D):c.972C>T (p.Asp324=)SNV Conflicting interpretations of pathogenicity 325268 rs368990813 17:73836003-73836003 17:75839922-75839922
28 UNC13D NM_199242.2(UNC13D):c.2588G>A (p.Gly863Asp)SNV Conflicting interpretations of pathogenicity 225509 rs140184929 17:73827216-73827216 17:75831135-75831135
29 UNC13D NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu)SNV Conflicting interpretations of pathogenicity 225510 rs117221419 17:73832723-73832723 17:75836642-75836642
30 UNC13D NM_199242.2(UNC13D):c.227C>T (p.Thr76Met)SNV Conflicting interpretations of pathogenicity 533092 rs78028658 17:73839274-73839274 17:75843193-75843193
31 UNC13D NM_199242.2(UNC13D):c.70C>A (p.Arg24Ser)SNV Uncertain significance 533090 rs749234163 17:73840349-73840349 17:75844268-75844268
32 UNC13D NM_199242.2(UNC13D):c.2243C>T (p.Ala748Val)SNV Uncertain significance 533089 rs375724532 17:73830461-73830461 17:75834380-75834380
33 UNC13D NM_199242.2(UNC13D):c.514C>T (p.Arg172Cys)SNV Uncertain significance 533093 rs560126604 17:73838569-73838569 17:75842488-75842488
34 UNC13D NM_199242.2(UNC13D):c.3224G>A (p.Arg1075Gln)SNV Uncertain significance 533102 rs377594755 17:73824095-73824095 17:75828014-75828014
35 UNC13D NM_199242.2(UNC13D):c.3142G>A (p.Ala1048Thr)SNV Uncertain significance 533097 rs758781229 17:73824877-73824877 17:75828796-75828796
36 UNC13D NM_199242.2(UNC13D):c.1933C>T (p.Arg645Trp)SNV Uncertain significance 571953 rs768266670 17:73831060-73831060 17:75834979-75834979
37 UNC13D NM_199242.2(UNC13D):c.1240C>T (p.Arg414Cys)SNV Uncertain significance 533094 rs750811263 17:73832711-73832711 17:75836630-75836630
38 UNC13D NM_199242.2(UNC13D):c.856C>T (p.Arg286Trp)SNV Uncertain significance 533099 rs142618705 17:73836308-73836308 17:75840227-75840227
39 UNC13D NM_199242.2(UNC13D):c.389-9C>ASNV Uncertain significance 533100 rs946234751 17:73838703-73838703 17:75842622-75842622
40 UNC13D NM_199242.2(UNC13D):c.32G>C (p.Arg11Pro)SNV Uncertain significance 533101 rs574927621 17:73840387-73840387 17:75844306-75844306
41 UNC13D NM_199242.2(UNC13D):c.1580G>A (p.Arg527Gln)SNV Uncertain significance 533096 rs775555882 17:73831952-73831952 17:75835871-75835871
42 UNC13D NM_199242.2(UNC13D):c.515G>A (p.Arg172His)SNV Uncertain significance 568426 rs769659694 17:73838568-73838568 17:75842487-75842487
43 UNC13D NM_199242.2(UNC13D):c.2191G>A (p.Val731Met)SNV Uncertain significance 596208 rs377549461 17:73830513-73830513 17:75834432-75834432
44 UNC13D NM_199242.2(UNC13D):c.3134C>T (p.Thr1045Met)SNV Uncertain significance 626041 rs201146973 17:73824885-73824885 17:75828804-75828804
45 UNC13D NM_199242.2(UNC13D):c.1820G>C (p.Arg607Pro)SNV Uncertain significance 632290 rs377293829 17:73831518-73831518 17:75835437-75835437
46 UNC13D NM_199242.2(UNC13D):c.954G>A (p.Ala318=)SNV Uncertain significance 577974 rs751058445 17:73836021-73836021 17:75839940-75839940
47 UNC13D NM_199242.2(UNC13D):c.610A>G (p.Met204Val)SNV Uncertain significance 574872 rs144722609 17:73837042-73837042 17:75840961-75840961
48 UNC13D NM_199242.2(UNC13D):c.518C>T (p.Thr173Met)SNV Uncertain significance 575637 rs775835680 17:73838565-73838565 17:75842484-75842484
49 UNC13D NM_199242.2(UNC13D):c.2618C>T (p.Thr873Ile)SNV Uncertain significance 567440 rs1322992956 17:73827186-73827186 17:75831105-75831105
50 UNC13D NM_199242.2(UNC13D):c.2063A>G (p.Gln688Arg)SNV Uncertain significance 571984 rs777159773 17:73830727-73830727 17:75834646-75834646

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 3

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 3.

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 3

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.16 UNC13D RAB27A
2 9.7 UNC13D RAB27A

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 3

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exocytic vesicle GO:0070382 8.96 UNC13D RAB27A
2 Weibel-Palade body GO:0033093 8.62 UNC13D RAB27A

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of exocytosis GO:0045921 9.26 UNC13D RAB27A
2 natural killer cell degranulation GO:0043320 9.16 UNC13D RAB27A
3 positive regulation of regulated secretory pathway GO:1903307 8.96 UNC13D RAB27A
4 exocytosis GO:0006887 8.92 UNC13D UNC13B STX11 RAB27A

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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