FHL2
MCID: HMP012
MIFTS: 28

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

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48OMIM, 34MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to rhabdomyosarcoma and hemophagocytic lymphohistiocytosis. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 2 is PRF1 (perforin 1 (pore forming protein)). Affiliated tissues include t cells, bone marrow and bone.

Description from OMIM:48 603553

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 2 44 21 23 48 63
hplh2 44
hlh2 44
fhl2 44


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

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18GeneCards, 19GeneDecks
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Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis, familial, 2
Hemophagocytic Lymphohistiocytosis, Familial, 3 Hemophagocytic Lymphohistiocytosis, Familial, 4
Familial Hemophagocytic Lymphohistiocytosis 5

Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma10.4
2hemophagocytic lymphohistiocytosis10.3
3breast cancer10.3
4colon cancer10.1
5colorectal cancer10.0
6influenza10.0
7ischemia10.0
8leukemia10.0
9neuroblastoma10.0
10osteosarcoma10.0
11ovarian cancer10.0
12acute erythroid leukemia10.0
13hemophagocytic lymphohistiocytosis, familial, 410.0
14cardiomyopathy, dilated, 1w10.0

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



Diseases related to hemophagocytic lymphohistiocytosis, familial, 2

Symptoms for Hemophagocytic Lymphohistiocytosis, Familial, 2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

603553

Clinical features from OMIM:

603553

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

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21GeneTests, 23GTR
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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 221 PRF1
2 Hemophagocytic Lymphohistiocytosis, Familial, 223

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 2

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34MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

34
T cells, Bone marrow, Bone, Lymph node, Spleen, Liver, Nk cells

Animal Models for Hemophagocytic Lymphohistiocytosis, Familial, 2 or affiliated genes

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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

65
id Symbol AA change Variation ID SNP ID
1PRF1p.Val183GlyVAR_010744
2PRF1p.Arg225TrpVAR_010745rs28933973
3PRF1p.Asn252SerVAR_010746rs28933375
4PRF1p.Cys279TyrVAR_010747
5PRF1p.Pro345LeuVAR_010748rs28933374
6PRF1p.Gly429GluVAR_010749
7PRF1p.Val50MetVAR_010772
8PRF1p.Ile224AsnVAR_010774

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

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1PRF1PRF1, 1-BP DEL, 50TdeletionPathogenic
2PRF1NM_001083116.1(PRF1): c.1122G> A (p.Trp374Ter)single nucleotide variantPathogenicrs104894176GRCh37Chr 10, 72358355: 72358355
3PRF1NM_001083116.1(PRF1): c.190C> T (p.Gln64Ter)single nucleotide variantPathogenicrs104894180GRCh37Chr 10, 72360469: 72360469
4PRF1NM_001083116.1(PRF1): c.673C> T (p.Arg225Trp)single nucleotide variantPathogenicrs28933973GRCh37Chr 10, 72358804: 72358804
5PRF1NM_001083116.1(PRF1): c.1286G> A (p.Gly429Glu)single nucleotide variantPathogenicrs104894181GRCh37Chr 10, 72358191: 72358191
6PRF1NM_001083116.1(PRF1): c.1034C> T (p.Pro345Leu)single nucleotide variantPathogenicrs28933374GRCh37Chr 10, 72358443: 72358443
7PRF1NM_001083116.1(PRF1): c.836G> A (p.Cys279Tyr)single nucleotide variantPathogenicrs104894182GRCh37Chr 10, 72358641: 72358641
8PRF1NM_001083116.1(PRF1): c.548T> G (p.Val183Gly)single nucleotide variantPathogenicrs104894183GRCh37Chr 10, 72358929: 72358929
9PRF1NM_001083116.1(PRF1): c.755A> G (p.Asn252Ser)single nucleotide variantPathogenicrs28933375GRCh37Chr 10, 72358722: 72358722
10PRF1NM_001083116.1(PRF1): c.1304C> T (p.Thr435Met)single nucleotide variantPathogenicrs28933376GRCh37Chr 10, 72358173: 72358173
11PRF1PRF1, 2-BP DEL, 1090CTdeletionPathogenic
12PRF1PRF1, 1-BP DEL, 207AdeletionPathogenic
13PRF1NM_001083116.1(PRF1): c.1246C> T (p.Gln416Ter)single nucleotide variantPathogenicrs193302876GRCh37Chr 10, 72358231: 72358231

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet