FHL2
MCID: HMP012
MIFTS: 45

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2)

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 2:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 2 56 13 71
Familial Hemophagocytic Lymphohistiocytosis 2 12 73 29 6 15
Hplh2 56 12 73
Fhl2 56 12 73
Hlh2 56 12 73
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility to 6
Lymphohistiocytosis, Hemophagocytic, Familial, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hemophagocytic lymphohistiocytosis, familial, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

OMIM : 56 Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700. (603553)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as familial hemophagocytic lymphohistiocytosis 2, is related to hemophagocytic lymphohistiocytosis and cardiac rupture, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 2 is PRF1 (Perforin 1), and among its related pathways/superpathways is Presenilin-Mediated Signaling. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are global developmental delay and splenomegaly

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of PRF1 on chromosome 10q22.1.

UniProtKB/Swiss-Prot : 73 Familial hemophagocytic lymphohistiocytosis 2: 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, 2

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis 32.4 STX11 PRF1 GNLY FHL2
2 cardiac rupture 32.0 PRF1 FHL2
3 hemophagocytic lymphohistiocytosis, familial, 4 31.9 STX11 PRF1 FHL2
4 lymphoproliferative syndrome, x-linked, 1 31.8 STX11 PRF1 FHL2
5 griscelli syndrome, type 2 31.8 STX11 PRF1 FHL2
6 griscelli syndrome 31.8 STX11 PRF1 FHL2
7 hemophagocytic lymphohistiocytosis, familial, 1 31.6 ZNF362 UNC119 SYS1 STX11 PRF1 MEX3D
8 rhabdomyosarcoma 11.7
9 hypertrophic cardiomyopathy 11.6
10 dilated cardiomyopathy 11.6
11 acute erythroid leukemia 11.4
12 prostate cancer 11.4
13 arrhythmogenic right ventricular cardiomyopathy 11.2
14 hypogonadotropic hypogonadism 24 without anosmia 11.1
15 myxedema 11.1
16 deafness, autosomal recessive 65 11.1
17 left ventricular noncompaction 11.1
18 protein-deficiency anemia 11.1
19 postsurgical hypothyroidism 11.1
20 gestational trophoblastic neoplasm 11.1
21 thyroid gland disease 11.1
22 pyridoxine deficiency anemia 11.1
23 familial isolated dilated cardiomyopathy 11.1
24 colorectal cancer 10.4
25 primary hemophagocytic lymphohistiocytosis 10.3 STX11 PRF1
26 oral tuberculosis 10.3 PRF1 GNLY
27 breast cancer 10.3
28 hepatocellular carcinoma 10.3
29 osteogenic sarcoma 10.2
30 leukemia, acute myeloid 10.2
31 helix syndrome 10.2
32 glioblastoma multiforme 10.2
33 myeloid leukemia 10.2
34 hypotrichosis, congenital, with juvenile macular dystrophy 10.2 CDH3 CDH15
35 lymphoproliferative syndrome 1 10.2 STX11 PRF1
36 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.1 CDH3 CDH15
37 thrombophilia due to thrombin defect 10.1
38 cervical cancer 10.1
39 hypertensive nephropathy 10.1
40 renal fibrosis 10.1
41 obstructive nephropathy 10.1
42 ureteral obstruction 10.1
43 lymphoproliferative syndrome, x-linked, 2 10.1 STX11 PRF1
44 orofacial cleft 8 10.1 NOTCH1 CDH3
45 hemophagocytic lymphohistiocytosis, familial, 3 10.0 SYS1 STX11 CES1
46 atrial standstill 1 10.0
47 pilomatrixoma 10.0
48 fibrosis of extraocular muscles, congenital, 1 10.0
49 glioma susceptibility 1 10.0
50 hair whorl 10.0

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 2

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 increased intracranial pressure 31 HP:0002516
5 hypertonia 31 HP:0001276
6 failure to thrive 31 HP:0001508
7 hypertriglyceridemia 31 HP:0002155
8 irritability 31 HP:0000737
9 ataxia 31 HP:0001251
10 anemia 31 HP:0001903
11 thrombocytopenia 31 HP:0001873
12 jaundice 31 HP:0000952
13 hyponatremia 31 HP:0002902
14 meningitis 31 HP:0001287
15 encephalitis 31 HP:0002383
16 hypoalbuminemia 31 HP:0003073
17 prolonged prothrombin time 31 HP:0008151
18 lymphadenopathy 31 HP:0002716
19 increased serum ferritin 31 HP:0003281
20 generalized hypotonia 31 HP:0001290
21 leukopenia 31 HP:0001882
22 hemiplegia 31 HP:0002301
23 tetraplegia 31 HP:0002445
24 coma 31 HP:0001259
25 hypoproteinemia 31 HP:0003075
26 increased total bilirubin 31 HP:0003573
27 hemophagocytosis 31 HP:0012156
28 generalized edema 31 HP:0007430
29 increased csf protein 31 HP:0002922
30 hypofibrinogenemia 31 HP:0011900
31 csf pleocytosis 31 HP:0012229
32 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
increased intracranial pressure
seizures
hypertonia
irritability
ataxia
more
Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
hypoalbuminemia
prolonged prothrombin time
hypoproteinemia
more
Skin Nails Hair Skin:
jaundice
purpuric rashes

Muscle Soft Tissue:
generalized edema

Abdomen Liver:
hepatomegaly

Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
leukopenia

Immunology:
lymphadenopathy
reduced natural killer cell cytotoxicity
overproduction by t lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha
activated hla dr+ t cells in peripheral blood
reduced t cell cytotoxicity
more
Head And Neck Head:
bulging fontanelle

Clinical features from OMIM:

603553

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 2:


seizures, ataxia, hemiplegia, icterus, bulging fontanelle

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search Clinical Trials , NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 2 29 PRF1

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 2

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

40
T Cells, Bone, Bone Marrow, Lymph Node, Spleen, Liver, Nk Cells

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

(show all 29)
# Title Authors PMID Year
1
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 6 56
21234777 2011
2
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 6 56
14757862 2004
3
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 56 6
12229880 2002
4
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 6 56
11179007 2001
5
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 56 6
10583959 1999
6
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
7
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 6
23443029 2013
8
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 56
17873118 2008
9
Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function. 6
17475905 2007
10
Perforin gene mutations in patients with acquired aplastic anemia. 6
17311987 2007
11
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. 6
16720836 2006
12
Hemophagocytic Lymphohistiocytosis, Familial – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301617 2006
13
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 6
16278825 2006
14
A proportion of patients with lymphoma may harbor mutations of the perforin gene. 6
15728124 2005
15
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 6
15755897 2005
16
Autoimmune lymphoproliferative syndrome and perforin. 6
15659737 2005
17
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype. 6
15342365 2004
18
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 6
15459303 2004
19
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2004. Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly. 56
15356310 2004
20
The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. 6
15365097 2004
21
Atypical features of familial hemophagocytic lymphohistiocytosis. 6
14739222 2004
22
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. 6
12716377 2003
23
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing. 6
12599189 2003
24
Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. 56
12358924 2002
25
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. 56
9915956 1999
26
A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family. 6
7851014 1995
27
Disturbances in NK Cells in Various Types of Hemophagocytic Lymphohistiocytosis in a Population of Polish Children. 61
31107368 2019
28
Bone marrow derived mesenchymal stem cells ameliorate inflammatory response in an in vitro model of familial hemophagocytic lymphohistiocytosis 2. 61
30021624 2018
29
CD8 T Cell Memory Increases Immunopathology in the Perforin-Deficient Model of Hemophagocytic Lymphohistiocytosis Secondary to TNF-α. 61
29795796 2018

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

6 (show top 50) (show all 177) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRF1 NM_001083116.3(PRF1):c.50del (p.Leu17fs)deletion Pathogenic 468305 rs147035858 10:72360609-72360609 10:70600853-70600853
2 PRF1 NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)SNV Pathogenic 468301 rs189650890 10:72358128-72358128 10:70598372-70598372
3 PRF1 NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg)SNV Pathogenic 468300 rs578092914 10:72360526-72360526 10:70600770-70600770
4 PRF1 NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)SNV Pathogenic 502548 rs752858869 10:72358396-72358396 10:70598640-70598640
5 PRF1 NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)SNV Pathogenic 520942 rs147462227 10:72360214-72360214 10:70600458-70600458
6 PRF1 NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter)SNV Pathogenic 561093 rs1564723653 10:72358092-72358092 10:70598336-70598336
7 PRF1 NC_000010.11:g.(?_70598033)_(70600922_?)deldeletion Pathogenic 831689 10:72357789-72360678
8 PRF1 PRF1, 1-BP DEL, 50Tdeletion Pathogenic 13708
9 PRF1 NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)SNV Pathogenic 13709 rs104894176 10:72358355-72358355 10:70598599-70598599
10 PRF1 NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)SNV Pathogenic 13710 rs104894180 10:72360469-72360469 10:70600713-70600713
11 PRF1 NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)SNV Pathogenic 13711 rs28933973 10:72358804-72358804 10:70599048-70599048
12 PRF1 NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu)SNV Pathogenic 13712 rs104894181 10:72358191-72358191 10:70598435-70598435
13 PRF1 NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu)SNV Pathogenic 13713 rs28933374 10:72358443-72358443 10:70598687-70598687
14 PRF1 NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)SNV Pathogenic 13714 rs104894182 10:72358641-72358641 10:70598885-70598885
15 PRF1 NM_001083116.3(PRF1):c.548T>G (p.Val183Gly)SNV Pathogenic 13715 rs104894183 10:72358929-72358929 10:70599173-70599173
16 PRF1 NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)deletion Pathogenic 13721 rs771552960 10:72358386-72358387 10:70598630-70598631
17 PRF1 NM_001083116.3(PRF1):c.207del (p.Asp70fs)deletion Pathogenic 13722 rs786205093 10:72360452-72360452 10:70600696-70600696
18 PRF1 NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)SNV Pathogenic 13723 rs193302876 10:72358231-72358231 10:70598475-70598475
19 PRF1 NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)SNV Pathogenic 13717 rs28933376 10:72358173-72358173 10:70598417-70598417
20 PRF1 NM_001083116.3(PRF1):c.666C>A (p.His222Gln)SNV Pathogenic 280112 rs751247865 10:72358811-72358811 10:70599055-70599055
21 LIFR NM_001127671.2(LIFR):c.653dup (p.Glu219fs)duplication Pathogenic 281444 rs886042160 5:38511974-38511975 5:38511872-38511873
22 PRF1 NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)SNV Pathogenic/Likely pathogenic 216986 rs751161742 10:72358140-72358140 10:70598384-70598384
23 PRF1 NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)SNV Pathogenic/Likely pathogenic 802583 10:72360499-72360499 10:70600743-70600743
24 PRF1 NM_001083116.3(PRF1):c.148G>A (p.Val50Met)SNV Likely pathogenic 802584 10:72360511-72360511 10:70600755-70600755
25 PRF1 NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)SNV Likely pathogenic 802582 10:72358818-72358818 10:70599062-70599062
26 PRF1 NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)SNV Likely pathogenic 915285 10:72358431-72358431 10:70598675-70598675
27 PRF1 NM_001083116.3(PRF1):c.487del (p.His163fs)deletion Likely pathogenic 848608 10:72360172-72360172 10:70600416-70600416
28 PRF1 NM_001083116.3(PRF1):c.1175del (p.Pro392fs)deletion Likely pathogenic 523032 rs1554867753 10:72358302-72358302 10:70598546-70598546
29 PRF1 NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly)SNV Likely pathogenic 397653 rs1060499556 10:72358357-72358357 10:70598601-70598601
30 PRF1 NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)SNV Likely pathogenic 548929 rs768849283 10:72360273-72360273 10:70600517-70600517
31 PRF1 NM_001083116.3(PRF1):c.189A>C (p.Thr63=)SNV Conflicting interpretations of pathogenicity 756817 10:72360470-72360470 10:70600714-70600714
32 PRF1 NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)SNV Conflicting interpretations of pathogenicity 723839 10:72358337-72358337 10:70598581-70598581
33 PRF1 NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)SNV Conflicting interpretations of pathogenicity 536228 rs551046401 10:72358324-72358324 10:70598568-70598568
34 PRF1 NM_001083116.3(PRF1):c.519G>A (p.Thr173=)SNV Conflicting interpretations of pathogenicity 789534 10:72360140-72360140 10:70600384-70600384
35 PRF1 NM_001083116.3(PRF1):c.368G>A (p.Arg123His)SNV Conflicting interpretations of pathogenicity 789535 10:72360291-72360291 10:70600535-70600535
36 PRF1 NM_001083116.3(PRF1):c.111C>T (p.Phe37=)SNV Conflicting interpretations of pathogenicity 785783 10:72360548-72360548 10:70600792-70600792
37 PRF1 NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)SNV Conflicting interpretations of pathogenicity 715355 10:72357857-72357857 10:70598101-70598101
38 PRF1 NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)SNV Conflicting interpretations of pathogenicity 598223 rs141660796 10:72360577-72360577 10:70600821-70600821
39 PRF1 NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)SNV Conflicting interpretations of pathogenicity 536223 rs145463632 10:72358477-72358477 10:70598721-70598721
40 PRF1 NM_001083116.3(PRF1):c.519G>C (p.Thr173=)SNV Conflicting interpretations of pathogenicity 536227 rs112883709 10:72360140-72360140 10:70600384-70600384
41 PRF1 NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)SNV Conflicting interpretations of pathogenicity 13718 rs35947132 10:72360387-72360387 10:70600631-70600631
42 PRF1 NM_001083116.3(PRF1):c.807C>T (p.His269=)SNV Conflicting interpretations of pathogenicity 257407 rs147453010 10:72358670-72358670 10:70598914-70598914
43 PRF1 NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)SNV Conflicting interpretations of pathogenicity 13716 rs28933375 10:72358722-72358722 10:70598966-70598966
44 PRF1 NM_001083116.3(PRF1):c.630C>T (p.Pro210=)SNV Conflicting interpretations of pathogenicity 257405 rs144004164 10:72358847-72358847 10:70599091-70599091
45 PRF1 NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)SNV Conflicting interpretations of pathogenicity 300327 rs138126912 10:72358167-72358167 10:70598411-70598411
46 PRF1 NM_001083116.3(PRF1):c.286C>A (p.Arg96=)SNV Conflicting interpretations of pathogenicity 300334 rs144024245 10:72360373-72360373 10:70600617-70600617
47 PRF1 NM_001083116.3(PRF1):c.132C>A (p.Ala44=)SNV Conflicting interpretations of pathogenicity 300335 rs181323749 10:72360527-72360527 10:70600771-70600771
48 PRF1 NM_001083116.3(PRF1):c.-82G>ASNV Uncertain significance 300339 rs886047112 10:72362452-72362452 10:70602696-70602696
49 PRF1 NM_001083116.3(PRF1):c.*486T>CSNV Uncertain significance 300317 rs886047107 10:72357323-72357323 10:70597567-70597567
50 PRF1 NM_001083116.3(PRF1):c.*112G>ASNV Uncertain significance 300323 rs886047108 10:72357697-72357697 10:70597941-70597941

UniProtKB/Swiss-Prot genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

73
# Symbol AA change Variation ID SNP ID
1 PRF1 p.Val183Gly VAR_010744 rs104894183
2 PRF1 p.Arg225Trp VAR_010745 rs28933973
3 PRF1 p.Asn252Ser VAR_010746 rs28933375
4 PRF1 p.Cys279Tyr VAR_010747 rs104894182
5 PRF1 p.Pro345Leu VAR_010748 rs28933374
6 PRF1 p.Gly429Glu VAR_010749 rs104894181
7 PRF1 p.Val50Met VAR_010772 rs776299562
8 PRF1 p.Ile224Asn VAR_010774

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 2.

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 2

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 NOTCH1 CDH3 CDH15

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 2

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytolytic granule GO:0044194 8.62 PRF1 GNLY

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of muscle cell differentiation GO:0051149 8.96 TCF3 CDH15
2 cell-cell adhesion mediated by cadherin GO:0044331 8.62 CDH3 CDH15

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

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61 PubMed
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68 SNOMED-CT via HPO
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