FHL2
MCID: HMP012
MIFTS: 29

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases categories
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Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

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MalaCards based summary: Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to rhabdomyosarcoma and hemophagocytic lymphohistiocytosis, and has symptoms including 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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Hemophagocytic Lymphohistiocytosis, Familial, 2, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 2 42 20 22 46 62
Hplh2 42
 
Hlh2 42
Fhl2 42


Classifications:



Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

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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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Symptoms by clinical synopsis from OMIM:

603553

Clinical features from OMIM:

603553

HPO human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

(show all 32)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 irritability HP:0000737
3 jaundice HP:0000952
4 seizures HP:0001250
5 ataxia HP:0001251
6 coma HP:0001259
7 global developmental delay HP:0001263
8 hypertonia HP:0001276
9 meningitis HP:0001287
10 failure to thrive HP:0001508
11 splenomegaly HP:0001744
12 thrombocytopenia HP:0001873
13 leukopenia HP:0001882
14 anemia HP:0001903
15 hypertriglyceridemia HP:0002155
16 hepatomegaly HP:0002240
17 hemiplegia HP:0002301
18 encephalitis HP:0002383
19 tetraplegia HP:0002445
20 increased intracranial pressure HP:0002516
21 lymphadenopathy HP:0002716
22 hyponatremia HP:0002902
23 increased csf protein HP:0002922
24 hypoalbuminemia HP:0003073
25 hypoproteinemia HP:0003075
26 increased serum ferritin HP:0003281
27 increased total bilirubin HP:0003573
28 generalized edema HP:0007430
29 prolonged prothrombin time HP:0008151
30 hypofibrinogenemia HP:0011900
31 hemophagocytosis HP:0012156
32 csf pleocytosis HP:0012229

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

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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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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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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

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

64
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:

6 (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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet