PNH
MCID: PRX003
MIFTS: 55

Paroxysmal Nocturnal Hemoglobinuria (PNH) malady

Immune, Blood categories

Summaries for Paroxysmal Nocturnal Hemoglobinuria

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Paroxysmal nocturnal hemoglobinuria (pnh) is an acquired disorder that leads to the premature death and impaired production of blood cells. it can occur at any age, but is usually diagnosed in young adulthood. people with pnh have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. this results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. people with pnh may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. it is caused by acquired, rather than inherited, mutations in the piga gene; the condition is not passed down to children of affected individuals. sometimes, people who have been treated for aplastic anemia may develop pnh. the treatment of pnh is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of pnh with aplastic anemia or those whose develop leukemia. last updated: 1/15/2011

MalaCards: Paroxysmal Nocturnal Hemoglobinuria, also known as paroxysmal hemoglobinuria nocturnal, is related to hemoglobinuria and aplastic anemia. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria is PIGA (phosphatidylinositol glycan anchor biosynthesis, class A), and among its related pathways are Dissolution of Fibrin Clot and Hematopoietic cell lineage. The compounds anaphylatoxin and eaca have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and heart, and related mouse phenotypes are cellular and hematopoietic system.

Genetics Home Reference:21 Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both sexes equally, and can occur at any age, although it is most often diagnosed in young adulthood.

Wikipedia:64 Paroxysmal nocturnal hemoglobinuria (PNH), sometimes referred to as Marchiafava-Micheli syndrome, is a... more...

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 31LifeMap Discovery™, 61UMLS, 45Novoseek, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood


Aliases & Descriptions:

paroxysmal nocturnal hemoglobinuria 43 22 21 31 61
paroxysmal hemoglobinuria nocturnal 45
marchiafava-micheli syndrome 21
marchiafava-micheli disease 43
hemoglobinuria, paroxysmal 21
pnh 43


External Ids:

ICD1025 D59.5

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinuria32.5HP, PIGA, CD59, CD55
2aplastic anemia31.5PIGA, CD59, CD55
3acute leukemia31.1PLAUR, EPOR, MPL
4myelodysplastic syndromes30.9EPOR, CD55, CD59, MPL, PIGA
5pancytopenia30.8HP, CD55, MPL
6systemic lupus erythematosus30.4FCGR3B
7autoimmune hemolytic anemia30.4PIGA, CD59, CD55, HP
8nephritis30.4CD55, FCGR3B
9thrombocytosis30.4MPL, EPOR, HP
10n syndrome11.1
11hemoglobin so11.0
12paroxysmal nocturnal hemoglobinuria, somatic10.9
13hemoglobin d disease10.8
14hemoglobin c disease10.7
15thrombocytopenia10.7
16venous thrombosis10.7
17paroxysmal nocturnal hemoglobinuria 210.7
18hemoglobin e disease10.6
19heparin-induced thrombocytopenia10.6
20paroxysmal cold hemoglobinuria10.6
21stroke, ischemic10.5
22hemosiderosis10.5
23protein c deficiency10.5
24hepatic vein thrombosis10.5
25antiphospholipid syndrome10.4
26patent foramen ovale10.4
27fanconi syndrome10.4
28splenic infarction10.4
29thymoma10.4
30sickle cell disease10.4
31myeloproliferative disorder10.4
32sickle cell - hemoglobin d disease10.4
33sickle cell - hemoglobin c disease10.4
34hematopoietic stem cell transplantation10.4
35graft versus host disease10.3
36central retinal artery occlusion10.3
37duodenal ulcer10.3
38tropical spastic paraparesis10.3
39acute monocytic leukemia10.3
40leukemoid reaction10.3
41obstructive jaundice10.3
42acquired thrombocytopenia10.3
43acute myeloid leukemia10.3
44periventricular nodular heterotopia10.3
45sagittal sinus thrombosis10.3
46thrombotic thrombocytopenic purpura10.3
47portal hypertension10.3
48hereditary spherocytosis10.3
49central retinal vein occlusion10.3
50protein s deficiency10.3

Graphical network of the top 20 diseases related to Paroxysmal Nocturnal Hemoglobinuria:



Diseases related to paroxysmal nocturnal hemoglobinuria

Clinical Features for Paroxysmal Nocturnal Hemoglobinuria

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Paroxysmal Nocturnal Hemoglobinuria

Drug clinical trials:

Search ClinicalTrials for Paroxysmal Nocturnal Hemoglobinuria

Search NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria

Search CenterWatch for Paroxysmal Nocturnal Hemoglobinuria

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-cell-based therapeutic approaches for Paroxysmal Nocturnal Hemoglobinuria:
Hemacord
Embryonic/Adult Cultured Cells Related to Paroxysmal Nocturnal Hemoglobinuria:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria

Sources:
22GTR
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Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

id Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria22

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

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

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

Animal Models for Paroxysmal Nocturnal Hemoglobinuria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.8KLRK1, PIGA, MPL, CD59, EPOR, HP
2MP:00053979.5KLRK1, PIGA, MPL, CD59, CD55, EPOR

Publications for Paroxysmal Nocturnal Hemoglobinuria

Sources:
51PubMed
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Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50)    (show all 590)
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
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (23733340)
2013
4
Improving cytopenia with splenic artery embolization in a patient with paroxysmal nocturnal hemoglobinuria on eculizumab. (24318160)
2013
5
Association analysis of cytokine polymorphisms and plasma level in Northern Chinese Han patients with paroxysmal nocturnal hemoglobinuria. (22800824)
2012
6
Leukemic blasts with the paroxysmal nocturnal hemoglobinuria phenotype in children with acute lymphoblastic leukemia. (22940070)
2012
7
Chemoimmunotherapy's potential to impact paroxysmal nocturnal hemoglobinuria. (22402360)
2012
8
Paroxysmal nocturnal hemoglobinuria in pediatric patients. (22147651)
2012
9
Strategy for bone marrow transplantation in eculizumab-treated paroxysmal nocturnal hemoglobinuria. (21927799)
2011
10
Managing a pregnant patient with paroxysmal nocturnal hemoglobinuria in the era of eculizumab. (19954846)
2010
11
Enhanced expression of CD71, transferrin receptor, on immature reticulocytes in patients with paroxysmal nocturnal hemoglobinuria. (19302232)
2010
12
Improving renal outcomes in chronic anemia: learning from paroxysmal nocturnal hemoglobinuria. (20658585)
2010
13
Paroxysmal nocturnal hemoglobinuria: significant association with specific HLA-A, -B, -C, and -DR alleles in an Italian population. (18396213)
2008
14
Life-threatening desquamating rash and hyperammonemia following administration of eculizumab for paroxysmal nocturnal hemoglobinuria. (18756538)
2008
15
A retropharyngeal pseudoabscess in a patient with paroxysmal nocturnal hemoglobinuria. (17903595)
2007
16
Eculizumab in paroxysmal nocturnal hemoglobinuria. (17192547)
2006
17
Thymoma followed by paroxysmal nocturnal hemoglobinuria: a unique clinical association in the context of multiorgan autoimmunity with a potential role for CD8+ T lymphocytes. (16838334)
2006
18
Clinical management of paroxysmal nocturnal hemoglobinuria in pregnancy: a case report and updated review. (16919177)
2006
19
PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. (16923549)
2006
20
Diagnosis of paroxysmal nocturnal hemoglobinuria by fluorescent clostridium septicum alpha toxin. (16825787)
2006
21
Unrelated donor bone marrow transplantation with treosulfan-based myeloablative conditioning for paroxysmal nocturnal hemoglobinuria--successful treatment despite multiple transplant-related risk factors for hemolysis including major Kidd group incompatibility. (16247413)
2006
22
Improvement in the symptoms of smooth muscle dystonia during eculizumab therapy in paroxysmal nocturnal hemoglobinuria. (16464755)
2005
23
First two successful unrelated donor bone marrow transplantations for paroxysmal nocturnal hemoglobinuria in Poland. (16617663)
2005
24
Paroxysmal nocturnal hemoglobinuria after chloramphenicol therapy. (16212156)
2005
25
The response of bone marrow hematopoietic cells to G-CSF in paroxysmal nocturnal hemoglobinuria patients]. (15949269)
2005
26
Expression of CD59 on lymphocyte and the subsets and its potential clinical application for paroxysmal nocturnal hemoglobinuria diagnosis. (15053802)
2004
27
Shared and individual specificities of immunodominant cytotoxic T-cell clones in paroxysmal nocturnal hemoglobinuria as determined by molecular analysis. (15003311)
2004
28
Simultaneous occurrence of paroxysmal nocturnal hemoglobinuria and chronic lymphocytic leukemia. (15558792)
2004
29
Paroxysmal nocturnal hemoglobinuria in pregnancy. (14616248)
2003
30
Polyclonal hematopoiesis maintained in patients with bone marrow failure harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. (12676778)
2003
31
Aortic valve replacement and coronary revascularization in paroxysmal nocturnal hemoglobinuria. (17670147)
2003
32
Cardiac surgery in a patient with paroxysmal nocturnal hemoglobinuria. (12161376)
2002
33
Long-term support of hematopoiesis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria. (11929762)
2002
34
A new aspect of the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria. (14972783)
2002
35
Gastrointestinal involvement in paroxysmal nocturnal hemoglobinuria: first report of electron microscopic findings. (11837733)
2002
36
Labor analgesia in a patient with paroxysmal nocturnal hemoglobinuria with thrombocytopenia. (11172518)
2001
37
Acute renal failure in a patient with paroxysmal nocturnal hemoglobinuria. (11522096)
2001
38
Clinical paroxysmal nocturnal hemoglobinuria is the result of expansion of glycosyl-phosphatidyl-inositol-anchored protein-deficient clone in the condition of deficient hematopoiesis. (11372757)
2001
39
Continuous infusion of prostaglandin E(1) and epidural analgesia for a patient with paroxysmal nocturnal hemoglobinuria. (11375861)
2001
40
Successful unrelated donor bone marrow transplantation for paroxysmal nocturnal hemoglobinuria. (11319587)
2001
41
Abnormal platelet adhesion on abdominal vessels in asymptomatic patients with paroxysmal nocturnal hemoglobinuria. (11732867)
2001
42
Leukemia arising out of paroxysmal nocturnal hemoglobinuria. (10048414)
1999
43
Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. (10220445)
1999
44
Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. (8272086)
1994
45
Paroxysmal nocturnal hemoglobinuria associated with venous thrombosis and papillary endothelial hyperplasia presenting as ulcerated duodenal mass. (8060237)
1994
46
A deficiency in CDw52 (CAMPATH-1 antigen) of paroxysmal nocturnal hemoglobinuria lymphocytes. (8260716)
1993
47
Complement-induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. (7688991)
1993
48
Increased plasma decay-accelerating factor levels in paroxysmal nocturnal hemoglobinuria. (1380843)
1992
49
Assembly and deacetylation of N-acetylglucosaminyl-plasmanylinositol in normal and affected paroxysmal nocturnal hemoglobinuria cells. (1708886)
1991
50
Acetylcholinesterase and lymphocyte function-associated antigen 3 found on decay-accelerating factor-negative erythrocytes from some patients with paroxysmal nocturnal hemoglobinuria are lost during erythrocyte aging. (1688724)
1990

Genetic Variations for Paroxysmal Nocturnal Hemoglobinuria

Expression for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

Search GEO for disease gene expression data for Paroxysmal Nocturnal Hemoglobinuria.

Pathways for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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

(show all 49)
idCompoundScoreTop Affiliating Genes
1anaphylatoxin4510.7HP, CD55, CD59
2eaca4510.7PLAUR, PLAU
3alemtuzumab45 1111.7PIGA, CD52, FCGR3B
4methylcellulose4510.6PIGA, CD59, EPOR
5hirudin4510.6PLAUR, PLAU, CD55
6p-amino benzamidine4510.6PLAU, PLAUR
7pimonidazole4510.6PLAUR, EPOR
8n-formylmethionyl-leucylphenylalanine4510.6FCGR3B, PLAUR, CD55
9glycolipid4510.6CD59, CD55, PLAU, PLAUR
10phytosphingosine45 2411.6PIGF, PIGA, PIGH
11Urokinase1110.6PLAU, PLAUR
12sphinganine 1-phosphate45 2411.6PIGF, PIGA, PIGH
13saporin4510.6PLAU, PLAUR
14sphinganine45 2411.6PIGF, PIGA, PIGH
15sphingosine 1-phosphate29 2411.6PIGF, PIGA, PIGH
16gp 1304510.6MPL, EPOR, HP, PLAUR
17kininogen4510.6HP, PLAU, PLAUR
18sucrose45 11 2412.6CD59, CD55, HP, PLAUR
19sialic acid4510.6CD59, CD55, CD52, GPLD1
20inositol4510.5CD59, CD55, EPOR, GPLD1
21dihydroceramide45 2411.5PIGF, PIGA, PIGH
22rituximab45 50 1112.5CD59, CD55, CD52, HP, FCGR3B
23fmlp4510.5CD59, CD55, PLAUR, FCGR3B, CEACAM8
24glucosylceramide45 2411.5PIGH, PIGA, PIGF
25aspirin45 50 29 2413.5MPL, CD59, HP, PLAU, PLAUR
26n-acetylglucosamine4510.5PLAUR, PIGH, PIGA
27actinomycin d4510.5PLAUR, PLAU, HP, EPOR, CD55
28sphingosine45 11 2412.5PIGF, PIGA, PIGH, PLAU, PLAUR
29alpha-amanitin4510.5PLAU, PLAUR
30iron45 2411.5MPL, CD59, CD55, EPOR, HP, PLAUR
31tranexamic acid45 1111.4PLAU, PLAUR
32polysaccharide4510.4CD55, CD52, HP, GPLD1, PLAU, FCGR3B
33suramin45 29 1112.4PLAUR, PLAU, GPLD1
34phospholipid4510.4CD59, CD55, HP, GPLD1
35alanine4510.3MPL, CD55, EPOR, HP, PLAU, PLAUR
36vegf4510.3PIGF, MPL, CD55, EPOR, HP, PLAU
37cysteine4510.3MPL, CD55, EPOR, HP, PLAU, PLAUR
38h2o24510.3HP, GPLD1, PLAU, PLAUR, FCGR3B
39lipid4510.3CD59, CD55, EPOR, HP, GPLD1, PLAUR
40oxygen45 2411.3KLRK1, PIGF, CD59, CD55, EPOR, PLAUR
41glucose4510.2CD59, CD55, EPOR, HP, GPLD1, PLAUR
42udp-n-acetylglucosamine4510.2PIGA, PIGH
43phosphatidylinositol-3,4,5-trisphosphate45 2411.2PIGH, PIGA, PIGF
44cholesterol45 29 11 2413.1CD59, CD55, HP, GPLD1, PLAUR
45calcium45 50 11 2413.1KLRK1, CD160, CD59, CD55, EPOR, HP
46serine4510.1FCGR3B, HP, EPOR, CD55, MPL
47phosphatidylinositol4510.0FCGR3B, KLRK1, PIGA, PIGH, MPL, CD59
48atorvastatin45 50 29 11 2414.0PLAU, CD55, CD59
49tyrosine459.9CD55, CD59, CD160, MPL, PIGF, EPOR

GO Terms for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

Sources:
16Gene Ontology
See all sources

Cellular components related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexGO:00050610.2PIGA, PIGH
2cell surfaceGO:00998610.2PLAUR, PLAU, CD55, CD59
3anchored to membraneGO:03122510.1CEACAM8, CD55, CD52, PLAUR, FCGR3B, SEMA7A
4integral to plasma membraneGO:0058879.8KLRC2, MPL, CD55, CD52, EPOR, PLAUR
5extracellular regionGO:0055769.7CD59, CD55, EPOR, HP, PLAU, PLAUR
6plasma membraneGO:0058869.5KLRC2, MPL, CD160, CD59, CD55, PLAU

Biological processes related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibrinolysisGO:04273010.3PLAU, PLAUR
2preassembly of GPI anchor in ER membraneGO:01625410.3PIGF, PIGA, PIGH
3C-terminal protein lipidationGO:00650110.2PLAUR, PIGH, PIGA, PIGF
4GPI anchor biosynthetic processGO:00650610.2PIGF, PIGA, PIGH
5post-translational protein modificationGO:04368710.0PIGF, PIGA, PIGH, PLAUR
6respiratory burstGO:04573010.0CD52, CD55

Molecular functions related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol N-acetylglucosaminyltransferase activityGO:01717610.3PIGH, PIGA

Products for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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Sources for Paroxysmal Nocturnal 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