MCID: HMG002
MIFTS: 52

Hemoglobinuria malady

Immune, Blood categories

Summaries for Hemoglobinuria

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 In medicine, hemoglobinuria or haemoglobinuria is a condition in which the oxygen transport protein... more...

MalaCards: Hemoglobinuria, also known as haemoglobinuria, is related to paroxysmal nocturnal hemoglobinuria and aplastic anemia. 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 liver, kidney and lung, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Aliases & Classifications for Hemoglobinuria

Sources:
8Disease Ontology, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 25ICD10
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Related Diseases for Hemoglobinuria

Sources:
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 180)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal nocturnal hemoglobinuria31.8HP, CD55, CD59, CD14, CD58, PIGA
2aplastic anemia30.9CD55, CD59, PIGA
3acute leukemia30.5CSF3, CD58, CD14, PLAUR
4thrombocytopenia30.4CSF3, PIGA, HP, RECK
5myelodysplastic syndromes30.3CD55, CD59, PIGA, CSF3
6pancytopenia30.1CSF3, CD55, HP
7blackwater fever30.1G6PD
8sickle cell disease30.0HP, G6PD
9autoimmune hemolytic anemia30.0G6PD, PIGA, CD59, CD55, HP
10acute myocardial infarction29.8CD14
11sepsis29.8CSF3, CD14, CD55, RECK, FCGR3B
12systemic lupus erythematosus29.8KLRC2, CD59, CD55, RECK, FCGR3B
13nephritis29.8FCGR3B, CD55
14paroxysmal cold hemoglobinuria10.8
15n syndrome10.7
16hemoglobin so10.6
17paroxysmal nocturnal hemoglobinuria, somatic10.5
18hemoglobin d disease10.5
19hemoglobinemia10.4
20hemoglobin c disease10.4
21venous thrombosis10.3
22paroxysmal nocturnal hemoglobinuria 210.3
23hemoglobin e disease10.2
24heparin-induced thrombocytopenia10.2
25stroke, ischemic10.1
26hemosiderosis10.1
27protein c deficiency10.1
28hepatic vein thrombosis10.1
29eclampsia10.1
30purpura fulminans10.1
31antiphospholipid syndrome10.0
32patent foramen ovale10.0
33fanconi syndrome10.0
34splenic infarction10.0
35syphilis10.0
36thymoma10.0
37myeloproliferative disorder10.0
38sickle cell - hemoglobin d disease10.0
39sickle cell - hemoglobin c disease10.0
40hematopoietic stem cell transplantation10.0
41hepatitis10.0HP
42multiple myeloma10.0CSF3
43peritonitis10.0FCGR3B, CD14
44hepatitis c10.0CD58, HP
45hepatitis b10.0PLAUR, CD58
46colon adenocarcinoma10.0PLAUR, PLAU
47meningitis10.0CD55
48myeloid leukemia10.0CSF3, CD14
49vascular disease10.0PLAU, HP
50viral hepatitis10.0CD14, G6PD

Graphical network of the top 20 diseases related to Hemoglobinuria:



Diseases related to hemoglobinuria

Clinical Features for Hemoglobinuria

Drugs & Therapeutics for Hemoglobinuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Hemoglobinuria

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemoglobinuria:

33
Liver, Kidney, Lung, Spleen, Bone marrow, Whole blood, Heart, Smooth muscle, Small intestine, Myeloid, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Endothelial, Fetal liver, Fetal lung

Animal Models for Hemoglobinuria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hemoglobinuria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.1CD59, CD55, HP, PLAUR, GFRA1, CSF3
2MP:00053979.8ACHE, CSF3, G6PD, PIGA, CD59, CD55
3MP:00107689.6G6PD, PIGA, CD14, CD59, CD55, HP

Publications for Hemoglobinuria

Sources:
51PubMed
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Articles related to Hemoglobinuria:

(show top 50)    (show all 689)
idTitleAuthorsYear
1
Paroxysmal nocturnal hemoglobinuria: a red clot syndrome. (24200143)
2014
2
A Prospective Multicenter Study of Paroxysmal Nocturnal Hemoglobinuria Cells in Patients with Bone Marrow Failure. (24127323)
2013
3
Acute tubular necrosis in a patient with paroxysmal nocturnal hemoglobinuria. (23354203)
2013
4
A prospective multicenter study of paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure. (24227693)
2013
5
Cutaneous thrombosis related to paroxysmal nocturnal hemoglobinuria: clinical report. (23217954)
2012
6
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. (22305531)
2012
7
Recurrence of paroxysmal cold hemoglobinuria in a boy after physical cooling for fever. (21063222)
2011
8
Paroxysmal nocturnal hemoglobinuria presenting with a left intraventricular thrombus in a patient with prior thymoma and aplastic anemia. (22174595)
2011
9
Paroxysmal nocturnal hemoglobinuria in systemic lupus erythematosus: a case report. (22081908)
2011
10
Treatment of paroxysmal nocturnal hemoglobinuria in the era of eculizumab. (21883481)
2011
11
EPOR and TPOR expressions on CD34+ CD59- and CD34+ CD59+ bone marrow cells from patients with paroxysmal nocturnal hemoglobinuria]. (22338178)
2011
12
Thrombosis in Paroxysmal Nocturnal Hemoglobinuria - insights into the role of complement in thrombosis. (20433987)
2010
13
Eculizumab in paroxysmal nocturnal hemoglobinuria]. (20035691)
2009
14
A case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarct. (18479304)
2008
15
Which patients with paroxysmal nocturnal hemoglobinuria (PNH) should be treated with eculizumab? ASH evidence-based review 2008. (19074053)
2008
16
Neutral evolution in paroxysmal nocturnal hemoglobinuria. (19011109)
2008
17
A prospective comparison of four techniques for diagnosis of paroxysmal nocturnal hemoglobinuria. (17474884)
2007
18
FDA approves drug to treat rare hemoglobinuria. (17468139)
2007
19
Paroxysmal nocturnal hemoglobinuria in children. (17291133)
2007
20
Recent advances in biological and clinical aspects of paroxysmal nocturnal hemoglobinuria. (16926130)
2006
21
Improvement in the symptoms of smooth muscle dystonia during eculizumab therapy in paroxysmal nocturnal hemoglobinuria. (16464755)
2005
22
Patients with paroxysmal nocturnal hemoglobinuria have a high frequency of peripheral-blood T cells expressing activating isoforms of inhibiting superfamily receptors. (15956278)
2005
23
Increased resistance of PIG-A- bone marrow progenitors to tumor necrosis factor a and interferon gamma: possible implications for the in vivo dominance of paroxysmal nocturnal hemoglobinuria clones. (15194531)
2004
24
Ribavirin-associated hemoglobinuria with treatment of hepatitis C virus infection. (15034843)
2004
25
Generation and characterization of Clostridium septicum alpha toxin mutants and their use in diagnosing paroxysmal nocturnal hemoglobinuria. (15474491)
2004
26
Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. (14762182)
2004
27
Management issues in paroxysmal nocturnal hemoglobinuria. (12627847)
2003
28
Paroxysmal nocturnal hemoglobinuria arising from Fanconi anemia. (12571472)
2003
29
Long-term support of hematopoiesis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria. (11929762)
2002
30
The distribution of PIG-A gene abnormalities in paroxysmal nocturnal hemoglobinuria granulocytes and cultured erythroblasts. (11301179)
2001
31
Abnormal platelet adhesion on abdominal vessels in asymptomatic patients with paroxysmal nocturnal hemoglobinuria. (11732867)
2001
32
A case report of a paroxysmal nocturnal hemoglobinuria with increased coagulation activation markers while on treatment with LMWH with anti-Xa levels above the therapeutic range. (10739398)
2000
33
Defective TCR signaling events in glycosylphosphatidylinositol-deficient T cells derived from paroxysmal nocturnal hemoglobinuria patients. (10464162)
1999
34
Paroxysmal nocturnal hemoglobinuria and renal failure. (18408291)
1998
35
Paroxysmal cold hemoglobinuria and the elusive Donath-Landsteiner antibody. (15377190)
1998
36
The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. (8652849)
1996
37
High-dose recombinant human erythropoietin and low-dose corticosteroids for treatment of anemia in paroxysmal nocturnal hemoglobinuria. (8023644)
1994
38
Negative Ham's test and sugar water test on admission in paroxysmal nocturnal hemoglobinuria]. (7967061)
1994
39
Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells. (8081230)
1994
40
Induction of the paroxysmal nocturnal hemoglobinuria phenotype in normal human erythrocytes: effects of 2-aminoethylisothiouronium bromide on membrane proteins that regulate complement. (1710519)
1991
41
High-dose recombinant human erythropoietin for treatment of anemia in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria: a pilot study. (2226680)
1990
42
Synthesis of aberrant decay-accelerating factor proteins by affected paroxysmal nocturnal hemoglobinuria leukocytes. (1688570)
1990
43
Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. (1699124)
1990
44
Paroxysmal nocturnal hemoglobinuria and decay-accelerating factor. (1691902)
1990
45
Hepatic vein thrombosis in paroxysmal nocturnal hemoglobinuria. A spectrum from asymptomatic occlusion of hepatic venules to fatal Budd-Chiari syndrome. (3609666)
1987
46
Paroxysmal cold hemoglobinuria in treated congenital syphilis. (13123556)
1954
47
Serologic properties of a cold hemolysin and an acid hemolysin occurring in a case of syphilitic paroxysmal cold hemoglobinuria. (12997530)
1952
48
Paroxysmal cold hemoglobinuria; report of two cases. (18858906)
1948
49
Paroxysmal cold hemoglobinuria. (21025469)
1946
50
Hemoglobinemia and the hemoglobinurias. (21007432)
1945

Genetic Variations for Hemoglobinuria

Expression for genes affiliated with Hemoglobinuria

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Hemoglobinuria

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Hemoglobinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1pge24510.8PLAU
2alemtuzumab45 1111.7FCGR3B, PIGA, CSF3
3methylcellulose4510.7CSF3, PIGA, CD14, CD59
4n-formylmethionyl-leucylphenylalanine4510.7CSF3, CD55, PLAUR, FCGR3B
5rituximab45 50 1112.6CSF3, CD59, CD55, HP, FCGR3B
6nitroblue tetrazolium4510.6CD14, G6PD, CSF3
7carbohydrates4510.6CD58, CD14, HP, RECK, PLAUR
8diisopropylfluorophosphate4510.6ACHE, PLAUR, PLAU
9n-acetylglucosamine4510.6PIGA, PIGH, CD14, RECK, PLAUR
10anaphylatoxin4510.6CD59, CD55, HP
11aspirin45 50 29 2413.6G6PD, CD59, HP, PLAU, PLAUR
12aprotinin45 1111.6RECK, PLAU, PLAUR, PLCG1
13endotoxin4510.6PLAUR, RECK, HP, CD14, CSF3
14sucrose45 11 2412.6CD14, CD59, CD55, HP, RECK, PLAUR
15gp 1304510.6CSF3, HP, RECK, PLAUR
16dexamethasone45 50 29 1113.6CD58, CD14, CD55, PLAUR, PLCG1
17fitc4510.6CD55, CD59, CD14
18phosphatidylserine45 29 1112.6FCGR3B, PLCG1, RECK, CD14, G6PD
19creatinine4510.6CD14, CD55, HP, PLAU, PLAUR
20dmso4510.6CSF3, G6PD, RECK, PLAU, PLAUR
21heparin45 29 11 2413.6CD14, CD55, HP, RECK, PLCG1, GFRA1
22serine4510.6G6PD, CD55, HP, PLCG1, FCGR3B, ACHE
23sphingosine45 11 2412.6PIGA, PIGH, PLAU, PLAUR
24sialic acid4510.5RECK, HP, CD55, CD59
25glycolipid4510.5PLCG1, CD14, CD59, CD55, RECK, PLAU
26fibrinogen4510.5CD14, HP, RECK, PLAU, PLAUR
27polysaccharide4510.5CD14, CD55, HP, RECK, PLAU, PLCG1
28lactate4510.5G6PD, CD14, CD59, HP, RECK, PLAU
29cisplatin45 50 60 1113.5CSF3, G6PD, CD58, CD55, PLAU, PLAUR
30histamine45 29 2412.5PLCG1, PLAU, CD55, CD14, CD160
31superoxide45 2411.5CSF3, G6PD, CD160, CD14, CD59, PLAUR
32fmlp4510.5CSF3, CD14, CD59, CD55, PLAUR, PLCG1
33glucose4510.4CD14, CD59, CD55, RECK, PLAUR
34cyclosporin a45 29 6012.4CSF3, CD160, CD14, CD59, CD55, HP
35h2o24510.4G6PD, HP, PLAU, PLAUR, PLCG1, FCGR3B
36vegf4510.4CSF3, CD14, CD55, HP, RECK, PLAU
37cysteine4510.4CD14, CD55, HP, RECK, PLAU, PLAUR
38herbimycin a45 6011.4CD14, PLAU, PLAUR, PLCG1
39doxorubicin45 50 1112.4CSF3, G6PD, CD58, RECK, PLAU
40actinomycin d4510.4G6PD, CD55, HP, PLAU, PLAUR
41hirudin4510.4CD55, PLAU, PLAUR
42hyaluronic acid45 2411.4PLAUR, PLAU, HP, CD58
43cholesterol45 29 11 2413.4CD14, CD59, CD55, HP, RECK, PLAUR
44lipid4510.3CD59, CD14, CD58, G6PD, CD55, HP
45phosphatidylinositol4510.3PIGA, PIGH, CD58, CD14, CD59, CD55
46tyrosine4510.3CSF3, CD160, CD59, CD55, HP, RECK
47alpha-naphthyl butyrate4510.3CSF3, CD14
48folate4510.2PLCG1, RECK, HP, G6PD
49glutamine4510.2PLCG1, PLAUR, PLAU, CD14, G6PD
50aerolysin4510.1PIGA, PLCG1

GO Terms for genes affiliated with Hemoglobinuria

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexGO:00050610.4PIGH, PIGA
2anchored to membraneGO:03122510.1CEACAM8, CD58, CD14, CD55, RECK, PLAUR
3cell surfaceGO:00998610.1CD14, CD59, CD55, PLAU, PLAUR, ACHE
4extracellular spaceGO:00561510.0CSF3, CD14, CD59, HP, PLAU, GFRA1
5extracellular regionGO:0055769.8CD14, CD59, CD55, HP, PLAU, PLAUR
6plasma membraneGO:0058869.7CD59, CD14, CD160, CD58, KLRC2, CD55

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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Sources for Hemoglobinuria

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