FHL2
MCID: HMP012
MIFTS: 47

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 57 72 13 70
Familial Hemophagocytic Lymphohistiocytosis 2 12 29 6 15
Hplh2 57 12 72
Fhl2 57 12 72
Hlh2 57 12 72
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility to 6
Lymphohistiocytosis, Hemophagocytic, Familial, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hemophagocytic lymphohistiocytosis, familial, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as familial hemophagocytic lymphohistiocytosis 2, is related to cardiac rupture and hemophagocytic lymphohistiocytosis, 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 liver, t cells and bone marrow, and related phenotypes are ataxia 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 : 72 Hemophagocytic lymphohistiocytosis, familial, 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 99)
# Related Disease Score Top Affiliating Genes
1 cardiac rupture 31.6 PRF1 FHL2
2 hemophagocytic lymphohistiocytosis 31.6 STX11 PRF1 GNLY FHL2
3 hemophagocytic lymphohistiocytosis, familial, 4 31.6 STX11 PRF1 FHL2
4 lymphoproliferative syndrome, x-linked, 2 31.5 STX11 PRF1 FHL2
5 lymphoproliferative syndrome, x-linked, 1 31.5 STX11 PRF1 FHL2
6 griscelli syndrome, type 2 31.5 STX11 PRF1 FHL2
7 griscelli syndrome 31.4 STX11 PRF1 FHL2
8 hemophagocytic lymphohistiocytosis, familial, 1 30.4 ZNF362 UNC119 SYS1 STX11 SCRT1 PRF1
9 hemophagocytic lymphohistiocytosis, familial, 3 29.6 SYS1 STX11 SCRT1 GNLY GET4 CES1
10 rhabdomyosarcoma 11.2
11 prostate cancer 11.1
12 hypertrophic cardiomyopathy 11.1
13 dilated cardiomyopathy 11.1
14 arrhythmogenic right ventricular cardiomyopathy 11.0
15 left ventricular noncompaction 11.0
16 hypertensive nephropathy 10.9
17 myopathy, x-linked, with postural muscle atrophy 10.8
18 deafness, autosomal recessive 65 10.8
19 scapuloperoneal myopathy 10.8
20 tibial muscular dystrophy 10.8
21 hermansky-pudlak syndrome 10.8
22 benign struma ovarii 10.8
23 oral tuberculosis 10.3 PRF1 GNLY
24 primary hemophagocytic lymphohistiocytosis 10.3 STX11 PRF1
25 phenytoin allergy 10.2 PRF1 GNLY
26 lymphoproliferative syndrome 1 10.1 STX11 PRF1
27 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 CDH3 CDH15
28 ovarian cancer 10.1
29 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 10.1 CDH3 CDH15
30 saethre-chotzen syndrome 10.0 TCF3 GET4 CFAP47
31 colorectal cancer 10.0
32 osteogenic sarcoma 10.0
33 leukemia, acute myeloid 10.0
34 helix syndrome 10.0
35 leukemia 10.0
36 glioblastoma 10.0
37 spondylocostal dysostosis 3, autosomal recessive 9.9 NOTCH1 GNLY
38 fibrosis of extraocular muscles, congenital, 1 9.9
39 cervical cancer 9.9
40 renal fibrosis 9.9
41 colorectal adenocarcinoma 9.9
42 thrombosis 9.9
43 obstructive nephropathy 9.9
44 ischemia 9.9
45 ureteral obstruction 9.9
46 adenoma 9.9
47 b-cell lymphoma 9.9
48 myeloid leukemia 9.9
49 ovarian epithelial cancer 9.9
50 hereditary nonpolyposis colon cancer 9.9

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 41)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 splenomegaly 31 very rare (1%) HP:0001744
3 hepatomegaly 31 very rare (1%) HP:0002240
4 increased intracranial pressure 31 very rare (1%) HP:0002516
5 fever 31 very rare (1%) HP:0001945
6 hypertriglyceridemia 31 very rare (1%) HP:0002155
7 anemia 31 very rare (1%) HP:0001903
8 elevated hepatic transaminase 31 very rare (1%) HP:0002910
9 thrombocytopenia 31 very rare (1%) HP:0001873
10 jaundice 31 very rare (1%) HP:0000952
11 skin rash 31 very rare (1%) HP:0000988
12 lymphadenopathy 31 very rare (1%) HP:0002716
13 pancytopenia 31 very rare (1%) HP:0001876
14 hepatosplenomegaly 31 very rare (1%) HP:0001433
15 edema 31 very rare (1%) HP:0000969
16 recurrent fever 31 very rare (1%) HP:0001954
17 increased total bilirubin 31 very rare (1%) HP:0003573
18 hemophagocytosis 31 very rare (1%) HP:0012156
19 increased csf protein 31 very rare (1%) HP:0002922
20 hypofibrinogenemia 31 very rare (1%) HP:0011900
21 csf pleocytosis 31 very rare (1%) HP:0012229
22 cns demyelination 31 very rare (1%) HP:0007305
23 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
24 reduced natural killer cell activity 31 very rare (1%) HP:0012178
25 failure to thrive 31 HP:0001508
26 tetraplegia 31 HP:0002445
27 encephalitis 31 HP:0002383
28 global developmental delay 31 HP:0001263
29 hypertonia 31 HP:0001276
30 irritability 31 HP:0000737
31 hyponatremia 31 HP:0002902
32 meningitis 31 HP:0001287
33 hypoalbuminemia 31 HP:0003073
34 prolonged prothrombin time 31 HP:0008151
35 coma 31 HP:0001259
36 generalized hypotonia 31 HP:0001290
37 leukopenia 31 HP:0001882
38 hemiplegia 31 HP:0002301
39 hypoproteinemia 31 HP:0003075
40 generalized edema 31 HP:0007430
41 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
tetraplegia
encephalitis
increased intracranial pressure
more
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
hypoalbuminemia
prolonged prothrombin time
hypoproteinemia
more
Skin Nails Hair Skin:
jaundice
purpuric rashes

Muscle Soft Tissue:
generalized edema

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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 (Updated 05-Apr-2021)

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
Liver, T Cells, Bone Marrow, Spleen, Nk Cells, Prostate, Bone

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

(show top 50) (show all 410)
# Title Authors PMID Year
1
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 6 61 57
17873118 2008
2
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 57 6
21234777 2011
3
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 57 6
14757862 2004
4
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 57 6
12229880 2002
5
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 57 6
11179007 2001
6
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 6 57
10583959 1999
7
Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W). 61 6
27271812 2017
8
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations. 6 61
26184781 2015
9
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 6 61
21931115 2011
10
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 6 61
21152410 2010
11
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. 6 61
20092789 2009
12
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. 61 6
17525286 2007
13
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. 61 6
17266056 2007
14
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. 6 61
15632205 2005
15
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. 6 61
11841437 2002
16
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis. 57
32374962 2020
17
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
18
Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families. 6
30539918 2018
19
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. 6
30697212 2018
20
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. 6
29357941 2018
21
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma. 6
29113160 2017
22
Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman. 6
26903364 2016
23
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. 6
26684649 2015
24
Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations. 6
26450956 2015
25
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 6
25937001 2015
26
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 6
25312756 2015
27
Mitochondrial dysfunction and risk of cancer. 6
25742477 2015
28
Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report. 6
25845254 2015
29
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
30
[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis]. 6
25297583 2014
31
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 6
24916509 2014
32
Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report. 6
23073044 2014
33
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood. 6
25233452 2014
34
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 6
23443029 2013
35
Familial haemophagocytic lymphohistiocytosis in twin infants. 6
23255033 2013
36
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. 6
22437823 2012
37
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. 6
21674762 2012
38
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 6
21881043 2011
39
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. 6
21959744 2011
40
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. 6
19595804 2009
41
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. 6
19487666 2009
42
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. 6
18190960 2008
43
A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency. 6
18074390 2008
44
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 6
16860143 2006
45
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. 6
16374518 2006
46
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 6
16278825 2006
47
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 6
15924140 2005
48
A proportion of patients with lymphoma may harbor mutations of the perforin gene. 6
15728124 2005
49
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 6
15755897 2005
50
Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. 6
15205266 2004

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

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

6 (show top 50) (show all 227)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRF1 PRF1, 1-BP DEL, 50T Deletion Pathogenic 13708 GRCh37:
GRCh38:
2 PRF1 NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) SNV Pathogenic 13710 rs104894180 GRCh37: 10:72360469-72360469
GRCh38: 10:70600713-70600713
3 PRF1 NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) SNV Pathogenic 13711 rs28933973 GRCh37: 10:72358804-72358804
GRCh38: 10:70599048-70599048
4 PRF1 NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu) SNV Pathogenic 13712 rs104894181 GRCh37: 10:72358191-72358191
GRCh38: 10:70598435-70598435
5 PRF1 NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu) SNV Pathogenic 13713 rs28933374 GRCh37: 10:72358443-72358443
GRCh38: 10:70598687-70598687
6 PRF1 NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) SNV Pathogenic 13714 rs104894182 GRCh37: 10:72358641-72358641
GRCh38: 10:70598885-70598885
7 PRF1 NM_001083116.3(PRF1):c.548T>G (p.Val183Gly) SNV Pathogenic 13715 rs104894183 GRCh37: 10:72358929-72358929
GRCh38: 10:70599173-70599173
8 PRF1 NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) Deletion Pathogenic 13721 rs771552960 GRCh37: 10:72358386-72358387
GRCh38: 10:70598630-70598631
9 PRF1 NM_001083116.3(PRF1):c.207del (p.Asp70fs) Deletion Pathogenic 13722 rs786205093 GRCh37: 10:72360452-72360452
GRCh38: 10:70600696-70600696
10 PRF1 NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) SNV Pathogenic 13723 rs193302876 GRCh37: 10:72358231-72358231
GRCh38: 10:70598475-70598475
11 PRF1 NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) SNV Pathogenic 468300 rs578092914 GRCh37: 10:72360526-72360526
GRCh38: 10:70600770-70600770
12 PRF1 NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) SNV Pathogenic 468301 rs189650890 GRCh37: 10:72358128-72358128
GRCh38: 10:70598372-70598372
13 PRF1 NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter) SNV Pathogenic 561093 rs1564723653 GRCh37: 10:72358092-72358092
GRCh38: 10:70598336-70598336
14 PRF1 NC_000010.11:g.(?_70598033)_(70600922_?)del Deletion Pathogenic 831689 GRCh37: 10:72357789-72360678
GRCh38:
15 PRF1 NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) SNV Pathogenic 502548 rs752858869 GRCh37: 10:72358396-72358396
GRCh38: 10:70598640-70598640
16 PRF1 NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) SNV Pathogenic 961631 GRCh37: 10:72358819-72358819
GRCh38: 10:70599063-70599063
17 PRF1 NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) Microsatellite Pathogenic 971288 GRCh37: 10:72358622-72358624
GRCh38: 10:70598866-70598868
18 PRF1 NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) SNV Pathogenic 976231 GRCh37: 10:72358696-72358696
GRCh38: 10:70598940-70598940
19 PRF1 NM_001083116.3(PRF1):c.50del (p.Leu17fs) Deletion Pathogenic 468305 rs147035858 GRCh37: 10:72360609-72360609
GRCh38: 10:70600853-70600853
20 LIFR NM_001127671.2(LIFR):c.653dup (p.Glu219fs) Duplication Pathogenic 281444 rs886042160 GRCh37: 5:38511974-38511975
GRCh38: 5:38511872-38511873
21 PRF1 NM_001083116.3(PRF1):c.666C>A (p.His222Gln) SNV Pathogenic 280112 rs751247865 GRCh37: 10:72358811-72358811
GRCh38: 10:70599055-70599055
22 PRF1 NM_001083116.3(PRF1):c.487del (p.His163fs) Deletion Pathogenic 848608 GRCh37: 10:72360172-72360172
GRCh38: 10:70600416-70600416
23 PRF1 NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) SNV Pathogenic 13709 rs104894176 GRCh37: 10:72358355-72358355
GRCh38: 10:70598599-70598599
24 PRF1 NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) SNV Pathogenic 520942 rs147462227 GRCh37: 10:72360214-72360214
GRCh38: 10:70600458-70600458
25 PRF1 NM_001083116.3(PRF1):c.1A>G (p.Met1Val) SNV Pathogenic 1029054 GRCh37: 10:72360658-72360658
GRCh38: 10:70600902-70600902
26 PRF1 NM_001083116.3(PRF1):c.148G>A (p.Val50Met) SNV Pathogenic/Likely pathogenic 802584 rs776299562 GRCh37: 10:72360511-72360511
GRCh38: 10:70600755-70600755
27 PRF1 NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) SNV Pathogenic/Likely pathogenic 802583 rs200430442 GRCh37: 10:72360499-72360499
GRCh38: 10:70600743-70600743
28 PRF1 NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) SNV Pathogenic/Likely pathogenic 216986 rs751161742 GRCh37: 10:72358140-72358140
GRCh38: 10:70598384-70598384
29 PRF1 NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly) SNV Likely pathogenic 397653 rs1060499556 GRCh37: 10:72358357-72358357
GRCh38: 10:70598601-70598601
30 PRF1 NM_001083116.3(PRF1):c.1175del (p.Pro392fs) Deletion Likely pathogenic 523032 rs1554867753 GRCh37: 10:72358302-72358302
GRCh38: 10:70598546-70598546
31 PRF1 NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) SNV Likely pathogenic 802582 rs202217604 GRCh37: 10:72358818-72358818
GRCh38: 10:70599062-70599062
32 PRF1 NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) SNV Likely pathogenic 929472 rs754079962 GRCh37: 10:72358459-72358459
GRCh38: 10:70598703-70598703
33 PRF1 NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro) SNV Likely pathogenic 915285 GRCh37: 10:72358431-72358431
GRCh38: 10:70598675-70598675
34 PRF1 NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) SNV Likely pathogenic 548929 rs768849283 GRCh37: 10:72360273-72360273
GRCh38: 10:70600517-70600517
35 PRF1 NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) SNV Likely pathogenic 959332 GRCh37: 10:72358411-72358411
GRCh38: 10:70598655-70598655
36 PRF1 NM_001083116.3(PRF1):c.921del (p.His308fs) Deletion Likely pathogenic 973565 GRCh37: 10:72358556-72358556
GRCh38: 10:70598800-70598800
37 PRF1 NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) SNV Conflicting interpretations of pathogenicity 723839 rs144926997 GRCh37: 10:72358337-72358337
GRCh38: 10:70598581-70598581
38 PRF1 NM_001083116.3(PRF1):c.286C>A (p.Arg96=) SNV Conflicting interpretations of pathogenicity 300334 rs144024245 GRCh37: 10:72360373-72360373
GRCh38: 10:70600617-70600617
39 PRF1 NM_001083116.3(PRF1):c.111C>T (p.Phe37=) SNV Conflicting interpretations of pathogenicity 785783 rs547321451 GRCh37: 10:72360548-72360548
GRCh38: 10:70600792-70600792
40 PRF1 NM_001083116.3(PRF1):c.519G>A (p.Thr173=) SNV Conflicting interpretations of pathogenicity 789534 rs112883709 GRCh37: 10:72360140-72360140
GRCh38: 10:70600384-70600384
41 PRF1 NM_001083116.3(PRF1):c.368G>A (p.Arg123His) SNV Conflicting interpretations of pathogenicity 789535 rs139336186 GRCh37: 10:72360291-72360291
GRCh38: 10:70600535-70600535
42 PRF1 NM_001083116.3(PRF1):c.630C>T (p.Pro210=) SNV Conflicting interpretations of pathogenicity 257405 rs144004164 GRCh37: 10:72358847-72358847
GRCh38: 10:70599091-70599091
43 PRF1 NM_001083116.3(PRF1):c.132C>A (p.Ala44=) SNV Conflicting interpretations of pathogenicity 300335 rs181323749 GRCh37: 10:72360527-72360527
GRCh38: 10:70600771-70600771
44 PRF1 NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) SNV Conflicting interpretations of pathogenicity 715355 rs149776121 GRCh37: 10:72357857-72357857
GRCh38: 10:70598101-70598101
45 PRF1 NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) SNV Conflicting interpretations of pathogenicity 536223 rs145463632 GRCh37: 10:72358477-72358477
GRCh38: 10:70598721-70598721
46 PRF1 NM_001083116.3(PRF1):c.807C>T (p.His269=) SNV Conflicting interpretations of pathogenicity 257407 rs147453010 GRCh37: 10:72358670-72358670
GRCh38: 10:70598914-70598914
47 PRF1 NM_001083116.3(PRF1):c.519G>C (p.Thr173=) SNV Conflicting interpretations of pathogenicity 536227 rs112883709 GRCh37: 10:72360140-72360140
GRCh38: 10:70600384-70600384
48 PRF1 NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) SNV Conflicting interpretations of pathogenicity 536228 rs551046401 GRCh37: 10:72358324-72358324
GRCh38: 10:70598568-70598568
49 PRF1 NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) SNV Conflicting interpretations of pathogenicity 300327 rs138126912 GRCh37: 10:72358167-72358167
GRCh38: 10:70598411-70598411
50 PRF1 NM_001083116.3(PRF1):c.1444G>T (p.Val482Phe) SNV Uncertain significance 578652 rs760962796 GRCh37: 10:72358033-72358033
GRCh38: 10:70598277-70598277

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

72
# 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 8.62 TCF3 CDH15

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

# Name GO ID Score Top Affiliating Genes
1 bHLH transcription factor binding GO:0043425 8.62 TCF3 FHL2

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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