FHL2
MCID: HMP012
MIFTS: 22

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2) malady

Immune, Genetic categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

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47OMIM, 33MalaCards
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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to hemophagocytic lymphohistiocytosis and temporal lobe epilepsy. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 2 is PRF1 (perforin 1 (pore forming protein)). Affiliated tissues include bone marrow, lymph node and spleen.

Description from OMIM:47 603553

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Classifications:

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


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial, 2 43 20 22 47 61
hplh2 43
hlh2 43
fhl2 43


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

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17GeneCards, 18GeneDecks
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Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1hemophagocytic lymphohistiocytosis30.4PRF1
2temporal lobe epilepsy10.1
3alzheimer's disease10.1
4colorectal cancer10.1
5hypoxia10.1
6hematopoietic stem cell transplantation10.1
7acute myeloid leukemia10.0
8acute leukemia10.0
9hemophagocytic lymphohistiocytosis, familial10.0
10acute erythroid leukemia10.0
11ovarian epithelial cancer10.0
12hemophagocytic lymphohistiocytosis, familial, 410.0
13protein r deficiency10.0
14ataxia10.0
15decr deficiency10.0
16cardiomyopathy, dilated, 1w10.0

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



Diseases related to hemophagocytic lymphohistiocytosis, familial, 2

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial, 2

Sources:
47OMIM
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Clinical features from OMIM:

603553

Clinical synopsis from OMIM:

603553

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hemophagocytic Lymphohistiocytosis, Familial, 2

Drug clinical trials:

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Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search CenterWatch for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

33
Bone marrow, Lymph node, Spleen, Liver, Nk cells, T cells

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

Sources:
28inGenious Targeting Laboratory
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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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

Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

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

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet