MCID: HMG002
MIFTS: 55

Hemoglobinuria malady

Immune diseases, Blood diseases categories

Summaries for Hemoglobinuria

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63Wikipedia, 32MalaCards
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Wikipedia:63 In medicine, hemoglobinuria or haemoglobinuria is a condition in which the oxygen transport protein... more...

MalaCards: Hemoglobinuria, also known as haemoglobinuria, is related to aplastic anemia and paroxysmal nocturnal hemoglobinuria. An important gene associated with Hemoglobinuria is PIGA (phosphatidylinositol glycan anchor biosynthesis, class A), and among its related pathways are Dissolution of Fibrin Clot and amb2 Integrin signaling. The compounds pge2 and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Aliases & Classifications for Hemoglobinuria

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8Disease Ontology, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 25ICD10
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Related Diseases for Hemoglobinuria

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17GeneCards, 18GeneDecks
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Diseases related to Hemoglobinuria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia30.9CD55, CD59, PIGA
2paroxysmal nocturnal hemoglobinuria30.7HP, CD55, CD59, CD14, CD58, PIGA
3leukemia30.6CD59, CD14, CD58, PIGA, CSF3, CD55
4acute leukemia30.5CSF3, CD58, CD14, PLAUR
5thrombocytopenia30.4CSF3, PIGA, HP, RECK
6hepatitis30.2HP
7hemolytic anemia30.2G6PD, PIGA, CD59, CD55, HP
8pancytopenia30.1CSF3, CD55, HP
9blackwater fever30.1G6PD
10multiple myeloma30.0CSF3
11myeloma30.0CD14, CD58, CSF3
12ischemia30.0HP, CD55, CD59, CD14
13sickle cell disease30.0HP, G6PD
14myocardial infarction30.0RECK, CD55, CD59, CD14
15autoimmune hemolytic anemia30.0G6PD, PIGA, CD59, CD55, HP
16hepatocellular carcinoma30.0PLAUR, PLAU, RECK, CD14, CD58
17pneumonia29.9CSF3
18hepatitis c29.7CD58, HP
19myeloid leukemia29.7CSF3, CD14
20acute myocardial infarction29.7CD14
21malaria29.7ACHE, RECK, HP, G6PD
22deficiency anemia29.7CSF3, G6PD, PIGA, CD59, CD55, HP
23systemic lupus erythematosus29.7KLRC2, CD59, CD55, RECK, FCGR3B
24non-hodgkin lymphoma29.7CD55, CD59, CD14, CSF3
25paroxysmal cold hemoglobinuria10.3
26cerebritis10.3
27paroxysmal nocturnal hemoglobinuria, somatic10.3
28purpura10.2
29retinitis10.1
30stroke, ischemic10.1
31hemosiderosis10.1
32splenic infarction10.1
33hepatic vein thrombosis10.1
34complement deficiency10.1
35myelofibrosis10.1
36eclampsia10.1
37pre-eclampsia10.1
38antiphospholipid syndrome10.0
39patent foramen ovale10.0
40fanconi syndrome10.0
41hepatitis a10.0
42cholangitis10.0
43chronic lymphocytic leukemia10.0
44lymphoblastic leukemia10.0
45papilledema10.0
46syphilis10.0
47thymoma10.0
48paroxysmal nocturnal hemoglobinuria 210.0
49peritonitis10.0FCGR3B, CD14
50hepatitis b10.0PLAUR, CD58

Graphical network of the top 20 diseases related to Hemoglobinuria:



Diseases related to hemoglobinuria

Clinical Features for Hemoglobinuria

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Drugs & Therapeutics for Hemoglobinuria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hemoglobinuria

Drug clinical trials:

Search ClinicalTrials for Hemoglobinuria

Search NIH Clinical Center for Hemoglobinuria

Search CenterWatch for Hemoglobinuria

Genetic Tests for Hemoglobinuria

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Anatomical Context for Hemoglobinuria

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32MalaCards
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MalaCards organs/tissues related to Hemoglobinuria:

32
Bone, Bone marrow, Kidney, T cells, Testes, Liver, Monocytes, Endothelial, Heart, Myeloid, Whole blood, Spleen, B cells, Lung, Smooth muscle, Nk cells

Animal Models for Hemoglobinuria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hemoglobinuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.1CD59, CD55, HP, PLAUR, GFRA1, CSF3
2MP:00053979.8PLAUR, PLCG1, PLAU, HP, CD55, CD59
3MP:00107689.6ACHE, G6PD, GFRA1, PLCG1, PLAU, RECK

Publications for Hemoglobinuria

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50PubMed
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Articles related to Hemoglobinuria:

(show top 50)    (show all 688)
idTitleAuthorsYear
1
The clinical relevance of minor paroxysmal nocturnal hemoglobinuria clones in refractory cytopenia of childhood: a prospective study by EWOG-MDS. (23807769)
2014
2
Glycosylphosphatidylinositol-specific, CD1d-restricted T cells in paroxysmal nocturnal hemoglobinuria. (23372165)
2013
3
Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report. (23935352)
2013
4
Thrombosis in paroxysmal nocturnal hemoglobinuria. (23610373)
2013
5
Improving cytopenia with splenic artery embolization in a patient with paroxysmal nocturnal hemoglobinuria on eculizumab. (24318160)
2013
6
Persistently high quality of life conferred by coexisting congenital deficiency of terminal complement C9 in a paroxysmal nocturnal hemoglobinuria patient. (22517879)
2012
7
Mechanism of paroxysmal nocturnal hemoglobinuria clonal dominance: possible roles of different apoptosis and CD8+ lymphocytes in the selection of paroxysmal nocturnal hemoglobinuria clones. (23095789)
2012
8
Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion. (23271156)
2012
9
Renal impairment, hemoglobinuria, and hemoglobinemia among patients with idiopathic thrombocytopenic purpura. (21786287)
2011
10
Hemolytic episode following an upper gastrointestinal endoscopy in a patient with paroxysmal nocturnal hemoglobinuria. (21198927)
2011
11
Deletions of Xp22.2 including PIG-A locus lead to paroxysmal nocturnal hemoglobinuria. (21116280)
2011
12
Paroxysmal nocturnal hemoglobinuria from bench to bedside. (21707954)
2011
13
Paroxysmal nocturnal hemoglobinuria following alemtuzumab immunosuppressive therapy for myelodysplastic syndrome and complicated by recurrent life-threatening thrombosis despite anticoagulation: successful intervention with eculizumab and fondaparinux. (19836075)
2010
14
Unilateral moyamoya syndrome involving the ipsilateral anterior and posterior circulation associated with paroxysmal nocturnal hemoglobinuria. (20437139)
2010
15
Co-existence of paroxysmal nocturnal hemoglobinuria and antiphospholipid syndrome-A role for complement activation. (20537388)
2010
16
Hemolytic anemia after eculizumab in paroxysmal nocturnal hemoglobinuria. (20818912)
2010
17
Paroxysmal nocturnal hemoglobinuria--hemolysis before and after eculizumab. (21121856)
2010
18
An unusual cause of Budd-Chiari syndrome: paroxysmal nocturnal hemoglobinuria. (20361088)
2010
19
Eculizumab opens a new era of treatment for paroxysmal nocturnal hemoglobinuria. (21082989)
2009
20
Current status of allogeneic hematopoietic stem cell transplantation for paroxysmal nocturnal hemoglobinuria. (19450749)
2009
21
Narrative review: paroxysmal nocturnal hemoglobinuria: the physiology of complement-related hemolytic anemia. (18413620)
2008
22
Detailed immunophenotypic characterization of different major and minor subsets of peripheral blood cells in patients with paroxysmal nocturnal hemoglobinuria. (18422849)
2008
23
Update on eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria. (18654116)
2008
24
Recurrent acute renal failure in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome: a case report. (18055307)
2007
25
Neurological complications of paroxysmal nocturnal hemoglobinuria. (17803040)
2007
26
Reticulocyte-gated flow cytometric analysis of red blood cells in paroxysmal nocturnal hemoglobinuria. (16751135)
2006
27
Accelerated telomere shortening in glycosylphosphatidylinositol (GPI)-negative compared with GPI-positive granulocytes from patients with paroxysmal nocturnal hemoglobinuria (PNH) detected by proaerolysin flow-FISH. (15811960)
2005
28
Acute renal failure secondary to hemoglobinuria in a patient with a left ventricular assist device. (14964463)
2004
29
Targeted deletion of the CD59 gene causes spontaneous intravascular hemolysis and hemoglobinuria. (11435315)
2001
30
Paroxysmal nocturnal hemoglobinuria associated with in vitro inhibition of erythropoiesis by bone marrow T lymphocytes. (10892366)
2000
31
Paroxysmal nocturnal hemoglobinuria (membrane defect, pathogenesis, aplastic anemia, diagnosis). (10934778)
2000
32
Biochemical background of paroxysmal nocturnal hemoglobinuria. (10571018)
1999
33
The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria. (9746796)
1998
34
Relationship between the phenotypes of circulating erythrocytes and cultured erythroblasts in paroxysmal nocturnal hemoglobinuria. (9207481)
1997
35
Study on prethrombotic state in patients with paroxysmal nocturnal hemoglobinuria]. (15625827)
1997
36
Recent advances in paroxysmal nocturnal hemoglobinuria. From the biology to the clinic. (9352325)
1997
37
G-CSF and cyclosporin induce an increase of normal cells in hypoplastic paroxysmal nocturnal hemoglobinuria. (9200995)
1997
38
Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria. (8611683)
1996
39
Development of paroxysmal nocturnal hemoglobinuria after chemotherapy. (8977267)
1996
40
Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. (8272086)
1994
41
Paroxysmal nocturnal hemoglobinuria associated with venous thrombosis and papillary endothelial hyperplasia presenting as ulcerated duodenal mass. (8060237)
1994
42
Expression of recombinant transmembrane CD59 in paroxysmal nocturnal hemoglobinuria B cells confers resistance to human complement. (7522635)
1994
43
Deficiency of phosphatidylinositol-linked membrane proteins on erythrocytes of different subpopulations in paroxysmal nocturnal hemoglobinuria. (7691484)
1993
44
Clinical profile and course of paroxysmal nocturnal hemoglobinuria]. (8235945)
1993
45
Myeloblastic leukemoid reaction in paroxysmal nocturnal hemoglobinuria associated with myelodysplasia. (1585775)
1992
46
A soluble form of the glycolipid-anchored receptor for urokinase-type plasminogen activator is secreted from peripheral blood leukocytes from patients with paroxysmal nocturnal hemoglobinuria. (1325906)
1992
47
Longer in vivo survival of CD59- and decay-accelerating factor-almost normal positive and partly positive erythrocytes in paroxysmal nocturnal hemoglobinuria as compared with negative erythrocytes: a demonstration by differential centrifugation and flow cytometry. (1373090)
1992
48
Paroxysmal nocturnal hemoglobinuria with hepatic vein thrombosis presenting as hepatic encephalopathy. (2307506)
1990
49
The specificity of the antibody in paroxysmal cold hemoglobinuria (P.C.H.). (5214829)
1965
50
Role of magnesium ions in Donath-Landsteiner hemolytic reaction of paroxysmal cold hemoglobinuria. (13167168)
1954

Genetic Variations for Hemoglobinuria

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Expression for genes affiliated with Hemoglobinuria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemoglobinuria

Search GEO for disease gene expression data for Hemoglobinuria.

Pathways for genes affiliated with Hemoglobinuria

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Hemoglobinuria

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Hemoglobinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1pge24410.8PLAU
2alemtuzumab44 1111.7FCGR3B, PIGA, CSF3
3methylcellulose4410.7CSF3, PIGA, CD14, CD59
4n-formylmethionyl-leucylphenylalanine4410.7CSF3, CD55, PLAUR, FCGR3B
5rituximab44 49 1112.6CSF3, CD59, CD55, HP, FCGR3B
6nitroblue tetrazolium4410.6CD14, G6PD, CSF3
7carbohydrates4410.6CD58, CD14, HP, RECK, PLAUR
8diisopropylfluorophosphate4410.6ACHE, PLAUR, PLAU
9n-acetylglucosamine4410.6PIGA, PIGH, CD14, RECK, PLAUR
10anaphylatoxin4410.6CD59, CD55, HP
11aspirin44 49 28 2413.6G6PD, CD59, HP, PLAU, PLAUR
12aprotinin44 1111.6RECK, PLAU, PLAUR, PLCG1
13endotoxin4410.6PLAUR, RECK, HP, CD14, CSF3
14sucrose44 11 2412.6CD14, CD59, CD55, HP, RECK, PLAUR
15gp 1304410.6CSF3, HP, RECK, PLAUR
16dexamethasone44 49 28 1113.6CD58, CD14, CD55, PLAUR, PLCG1
17fitc4410.6CD55, CD59, CD14
18phosphatidylserine44 28 1112.6FCGR3B, PLCG1, RECK, CD14, G6PD
19creatinine4410.6CD14, CD55, HP, PLAU, PLAUR
20dmso4410.6CSF3, G6PD, RECK, PLAU, PLAUR
21heparin44 28 11 2413.6CD14, CD55, HP, RECK, PLCG1, GFRA1
22serine4410.6G6PD, CD55, HP, PLCG1, FCGR3B, ACHE
23sphingosine44 11 2412.6PIGA, PIGH, PLAU, PLAUR
24sialic acid4410.5RECK, HP, CD55, CD59
25glycolipid4410.5PLCG1, CD14, CD59, CD55, RECK, PLAU
26fibrinogen4410.5CD14, HP, RECK, PLAU, PLAUR
27polysaccharide4410.5CD14, CD55, HP, RECK, PLAU, PLCG1
28lactate4410.5G6PD, CD14, CD59, HP, RECK, PLAU
29cisplatin44 49 59 1113.5CSF3, G6PD, CD58, CD55, PLAU, PLAUR
30histamine44 28 2412.5PLCG1, PLAU, CD55, CD14, CD160
31superoxide44 2411.5CSF3, G6PD, CD160, CD14, CD59, PLAUR
32fmlp4410.5CSF3, CD14, CD59, CD55, PLAUR, PLCG1
33glucose4410.4CD14, CD59, CD55, RECK, PLAUR
34cyclosporin a44 28 5912.4CSF3, CD160, CD14, CD59, CD55, HP
35h2o24410.4G6PD, HP, PLAU, PLAUR, PLCG1, FCGR3B
36vegf4410.4CSF3, CD14, CD55, HP, RECK, PLAU
37cysteine4410.4CD14, CD55, HP, RECK, PLAU, PLAUR
38herbimycin a44 5911.4CD14, PLAU, PLAUR, PLCG1
39doxorubicin44 49 1112.4CSF3, G6PD, CD58, RECK, PLAU
40actinomycin d4410.4G6PD, CD55, HP, PLAU, PLAUR
41hirudin4410.4CD55, PLAU, PLAUR
42hyaluronic acid44 2411.4PLAUR, PLAU, HP, CD58
43cholesterol44 28 11 2413.4CD14, CD59, CD55, HP, RECK, PLAUR
44lipid4410.3CD59, CD14, CD58, G6PD, CD55, HP
45phosphatidylinositol4410.3PIGA, PIGH, CD58, CD14, CD59, CD55
46tyrosine4410.3CSF3, CD160, CD59, CD55, HP, RECK
47alpha-naphthyl butyrate4410.3CSF3, CD14
48folate4410.2PLCG1, RECK, HP, G6PD
49glutamine4410.2PLCG1, PLAUR, PLAU, CD14, G6PD
50aerolysin4410.1PIGA, PLCG1

GO Terms for genes affiliated with Hemoglobinuria

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16Gene Ontology
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Cellular components related to Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexGO:00050610.4PIGA, PIGH
2anchored to membraneGO:03122510.1CD14, CD58, CEACAM8, ACHE, GFRA1, FCGR3B
3cell surfaceGO:00998610.1CD14, CD55, PLAU, PLAUR, CD59, ACHE
4extracellular spaceGO:00561510.0CEACAM8, ACHE, GFRA1, PLAU, HP, CD59
5extracellular regionGO:0055769.8CD59, ACHE, FCGR3B, PLAU, HP, CD55
6plasma membraneGO:0058869.7PLCG1, PLAUR, PLAU, RECK, CD55, CD59

Biological processes related to Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:00650110.4PLAUR, PIGH, PIGA
2preassembly of GPI anchor in ER membraneGO:01625410.4PIGH, PIGA
3cell surface receptor signaling pathwayGO:00716610.2GFRA1, CD59, CD14, CD160
4blood coagulationGO:00759610.1CD58, CD59, PLAU, PLAUR, PLCG1
5innate immune responseGO:0450879.9PLCG1, CD55, CD59, CD14, KLRC2

Molecular functions related to Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol N-acetylglucosaminyltransferase activityGO:01717610.1PIGH, PIGA
2protein bindingGO:0055159.8G6PD, PIGA, CD58, CD14, CD59, HP

Products for genes affiliated with Hemoglobinuria

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  • Antibodies
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  • Antibodies

Sources for Hemoglobinuria

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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