FHL2
MCID: HMP012
MIFTS: 30

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2) malady

Immune diseases, Genetic diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

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46OMIM, 32MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to hemophagocytic lymphohistiocytosis and rhabdomyosarcoma. 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:46 603553

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Immune diseases


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 2 42 20 22 46 60
hplh2 42
hlh2 42
fhl2 42


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2:



Diseases related to hemophagocytic lymphohistiocytosis, familial, 2

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial, 2

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46OMIM
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Clinical features from OMIM:

603553

Clinical synopsis from OMIM:

603553

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

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20GeneTests, 22GTR
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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 220 PRF1
2 Hemophagocytic Lymphohistiocytosis, Familial, 222

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 2

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32MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

32
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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Genetic Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

62
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

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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1BioGPS, 15Gene 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet