MCID: HMP012
MIFTS: 29

Hemophagocytic Lymphohistiocytosis, Familial, 2 malady

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

Hemophagocytic Lymphohistiocytosis, Familial, 2, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 2 45 10 41 20 22 60
Hplh2 41
 
Hlh2 41
Fhl2 41


Classifications:



External Ids:

OMIM45 603553

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section


OMIM:45 Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with... (603553) more...

MalaCards based summary: Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to rhabdomyosarcoma and hemophagocytic lymphohistiocytosis, and has symptoms including autosomal recessive inheritance, irritability and jaundice. 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.

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

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



Diseases related to hemophagocytic lymphohistiocytosis, familial, 2

Symptoms for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

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

About this section

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

About this section

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

About this section

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

31
T cells, Bone marrow, Bone, Lymph node, Spleen, Liver, Nk cells

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

About this section

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

UniProtKB/Swiss-Prot 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

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

6 (show all 13)
id Gene Variation 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

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

Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section

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

About this section

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet