PNH
MCID: PRX003
MIFTS: 56

Paroxysmal Nocturnal Hemoglobinuria (PNH) malady

Rare diseases, Immune diseases, Blood diseases, Endocrine diseases categories

Summaries for Paroxysmal Nocturnal Hemoglobinuria

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 Post-translational modification- synthesis of GPI-anchored proteins and Hematopoietic cell lineage. The compounds Ganglioside GT1b (d18:0/26:0) and Ganglioside GT1b (d18:1/26:0) have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related mouse phenotype hematopoietic system.

Genetics Home Reference:22 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:66 Paroxysmal nocturnal hemoglobinuria (PNH), sometimes referred to as Marchiafava-Micheli syndrome, is a... more...

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 32LifeMap Discovery™, 63UMLS, 46Novoseek, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Immune diseases, Blood diseases, Endocrine diseases


Aliases & Descriptions:

paroxysmal nocturnal hemoglobinuria 44 23 22 32 63
paroxysmal hemoglobinuria nocturnal 46
marchiafava-micheli syndrome 22
marchiafava-micheli disease 44
hemoglobinuria, paroxysmal 22
pnh 44


External Ids:

ICD1026 D59.5

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

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18GeneCards, 19GeneDecks
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Diseases in the Paroxysmal Nocturnal Hemoglobinuria family:

Paroxysmal Nocturnal Hemoglobinuria 2

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinuria32.4PIGA, HP, CD59, CD55
2aplastic anemia31.5PIGA, CD55, CD59
3myelodysplastic syndromes31.1CD55, CD59, EPOR, PIGA
4leukemia31.0HP, FCGR3B, EPOR, CD59, PIGA, CD55
5pancytopenia30.8HP, CD55
6hemolytic anemia30.7CD59, PIGA, HP, CD55
7sickle cell disease30.6EPOR, HP
8ischemia30.5CD59, HP, CD55, EPOR
9thrombocytosis30.4HP, EPOR
10autoimmune hemolytic anemia30.3HP, CD55, CD59, PIGA
11systemic lupus erythematosus30.3CD59, CD55, KLRC2, FCGR3B
12thrombocytopenia10.7
13cerebritis10.7
14paroxysmal nocturnal hemoglobinuria, somatic10.7
15heparin-induced thrombocytopenia10.6
16venous thrombosis10.6
17paroxysmal cold hemoglobinuria10.6
18retinitis10.6
19hemosiderosis10.5
20hepatitis10.5
21myelofibrosis10.5
22antiphospholipid syndrome10.4
23fanconi syndrome10.4
24splenic infarction10.4
25hepatic vein thrombosis10.4
26acute leukemia10.4
27patent foramen ovale10.4
28cholangitis10.4
29chronic lymphocytic leukemia10.4
30lymphoblastic leukemia10.4
31multiple myeloma10.4
32myeloma10.4
33papilledema10.4
34purpura10.4
35thymoma10.4
36paroxysmal nocturnal hemoglobinuria 210.4
37vesiculitis10.4
38endotheliitis10.4
39hematopoietic stem cell transplantation10.4
40graft versus host disease10.3
41acute monocytic leukemia10.3
42tropical spastic paraparesis10.3
43portal hypertension10.3
44thrombotic thrombocytopenic purpura10.3
45central retinal vein occlusion10.3
46hereditary spherocytosis10.3
47portal vein thrombosis10.3
48localized scleroderma10.3
49siderosis10.3
50end stage renal failure10.3

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



Diseases related to paroxysmal nocturnal hemoglobinuria

Symptoms for Paroxysmal Nocturnal Hemoglobinuria

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Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-RT
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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

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23GTR
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Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

id Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria23

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

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34MalaCards
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MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

34
Bone, Bone marrow, Heart, Skin, T cells, Testes, Liver, Kidney, Monocytes, Endothelial, B cells, Nk cells, Myeloid, Whole blood, Lung, Smooth muscle

Animal Models for Paroxysmal Nocturnal Hemoglobinuria or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.8CD55, CD59, HP, EPOR, PIGA

Publications for Paroxysmal Nocturnal Hemoglobinuria

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53PubMed
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Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50)    (show all 588)
idTitleAuthorsYear
1
Paroxysmal nocturnal hemoglobinuria: a red clot syndrome. (24200143)
2014
2
Laboratory tests for paroxysmal nocturnal hemoglobinuria (PNH). (24127129)
2013
3
Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies. (22990701)
2013
4
Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry. (23387491)
2013
5
A Prospective Multicenter Study of Paroxysmal Nocturnal Hemoglobinuria Cells in Patients with Bone Marrow Failure. (24127323)
2013
6
Long-term remission of paroxysmal nocturnal hemoglobinuria following chemoimmunotherapy for non-Hodgkin lymphoma. (22402359)
2012
7
Eculizumab: a guide to its use in paroxysmal nocturnal hemoglobinuria. (22350448)
2012
8
A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous I^-thalassemia. (20556389)
2011
9
Safety and efficacy of the terminal complement inhibitor eculizumab in Japanese patients with paroxysmal nocturnal hemoglobinuria: the AEGIS clinical trial. (21222185)
2011
10
Thrombosis in patients with paroxysmal nocturnal hemoglobinuria. (21455865)
2011
11
Managing a pregnant patient with paroxysmal nocturnal hemoglobinuria in the era of eculizumab. (19954846)
2010
12
Paroxysmal nocturnal hemoglobinuria turning Coombs-positive. (20140782)
2010
13
The management of paroxysmal nocturnal hemoglobinuria: recent advances in diagnosis and treatment and new hope for patients. (19171207)
2009
14
Eculizumab opens a new era of treatment for paroxysmal nocturnal hemoglobinuria. (21082989)
2009
15
A case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarct. (18479304)
2008
16
Narrative review: paroxysmal nocturnal hemoglobinuria: the physiology of complement-related hemolytic anemia. (18413620)
2008
17
The role of flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria in the clinical laboratory. (17658408)
2007
18
Recurrent acute renal failure in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome: a case report. (18055307)
2007
19
Recent advances in biological and clinical aspects of paroxysmal nocturnal hemoglobinuria. (16926130)
2006
20
Heterogeneity in the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) syndromes and expansion mechanism of a PNH clone. (16926129)
2006
21
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
22
Acute lymphoblastic leukemic transformation in a patient with chronic idiopathic myelofibrosis and paroxysmal nocturnal hemoglobinuria: a case report and review of the literature. (15628917)
2005
23
Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. (15217832)
2004
24
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
25
Paroxysmal nocturnal hemoglobinuria in pregnancy. (14616248)
2003
26
Laboratory diagnosis of paroxysmal nocturnal hemoglobinuria. (14584753)
2003
27
Images in cardiovascular medicine. Recurrent myocardial infarction in a patient with paroxysmal nocturnal hemoglobinuria. (14517154)
2003
28
Polyclonal hematopoiesis maintained in patients with bone marrow failure harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells. (12676778)
2003
29
Cardiac surgery in a patient with paroxysmal nocturnal hemoglobinuria. (12161376)
2002
30
Murine models of paroxysmal nocturnal hemoglobinuria. (12095954)
2002
31
Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria. (12411324)
2002
32
Paroxysmal nocturnal hemoglobinuria with no evidence of hemolysis presenting as Budd-Chiari syndrome. (11215746)
2000
33
Aplastic anemia and paroxysmal nocturnal hemoglobinuria: a follow-up study of the glycosylphosphatidylinositol-anchored proteins defect. (11920198)
2000
34
N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/ paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. (10627475)
2000
35
Analysis of T cells in paroxysmal nocturnal hemoglobinuria provides direct evidence that thymic T-cell production declines with age. (10515882)
1999
36
A case of pulmonary embolism caused by paroxysmal nocturnal hemoglobinuria. (9559419)
1998
37
Paroxysmal nocturnal hemoglobinuria and renal failure. (18408291)
1998
38
Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria. (9238050)
1997
39
Mechanism of intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH). (8813092)
1996
40
Natural history of paroxysmal nocturnal hemoglobinuria. (7566002)
1995
41
High-dose recombinant human erythropoietin and low-dose corticosteroids for treatment of anemia in paroxysmal nocturnal hemoglobinuria. (8023644)
1994
42
Expression of GPI-anchor proteins during the differentiation from hematopoietic progenitors in patients with paroxysmal nocturnal hemoglobinuria]. (8028180)
1994
43
Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. (8272086)
1994
44
Paroxysmal nocturnal hemoglobinuria associated with venous thrombosis and papillary endothelial hyperplasia presenting as ulcerated duodenal mass. (8060237)
1994
45
Paroxysmal nocturnal hemoglobinuria. Diagnosis aided by a monoclonal antibody directed against the decay accelerating factor glycoprotein]. (7685522)
1993
46
Deficiency of phosphatidylinositol-linked membrane proteins on erythrocytes of different subpopulations in paroxysmal nocturnal hemoglobinuria. (7691484)
1993
47
The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. (1312369)
1992
48
Myeloblastic leukemoid reaction in paroxysmal nocturnal hemoglobinuria associated with myelodysplasia. (1585775)
1992
49
Deficiency of glycosyl-phosphatidylinositol-linked membrane glycoproteins of leukocytes in paroxysmal nocturnal hemoglobinuria, description of a new diagnostic cytofluorometric assay. (2145990)
1990
50
Paroxysmal nocturnal hemoglobinuria: termination in acute monocytic leukemia and reappearance after chemotherapy with N4-palmitoyl-1-beta-D-arabinofuranosylcytosine (PL-AC) and vincristine. (3475490)
1987

Variations for Paroxysmal Nocturnal Hemoglobinuria

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria:

1
id Gene Name Type Significance SNP ID Assembly Location
1TERCNR_001566.1(TERC): n.-100C> Gsingle nucleotide variantPathogenicrs199422256GRCh37Chr 3, 169482948: 169482948

Expression for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8PIGT, PIGA
28.7CD55, CD59, EPOR

Compounds for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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25HMDB, 46Novoseek, 12DrugBank, 52PharmGKB
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Compounds related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 427)
idCompoundScoreTop Affiliating Genes
1Ganglioside GT1b (d18:0/26:0)2510.2PIGA, PIGT
2Ganglioside GT1b (d18:1/26:0)2510.2PIGT, PIGA
3Ganglioside GT1b (d18:1/26:1(17Z))2510.2PIGT, PIGA
4Ganglioside GT1c (d18:0/26:1(17Z))2510.2PIGT, PIGA
5Ganglioside GT1b (d18:0/25:0)2510.1PIGA, PIGT
6Ganglioside GQ1c (d18:1/25:0)2510.1PIGA, PIGT
7Ganglioside GQ1c (d18:1/24:1(15Z))2510.1PIGA, PIGT
8Ganglioside GQ1c (d18:0/24:1(15Z))2510.1PIGA, PIGT
9Ganglioside GT1c (d18:1/12:0)2510.1PIGT, PIGA
10Ganglioside GT3 (d18:1/18:1(11Z))2510.1PIGT, PIGA
11Ganglioside GT3 (d18:1/18:0)2510.1PIGA, PIGT
12Ganglioside GT3 (d18:0/18:0)2510.1PIGA, PIGT
13Ganglioside GT3 (d18:0/16:0)2510.1PIGA, PIGT
14alemtuzumab46 1211.1PIGA, FCGR3B
15Ganglioside GT2 (d18:1/16:0)2510.1PIGA, PIGT
16Ganglioside GT2 (d18:1/14:0)2510.1PIGA, PIGT
17Ganglioside GT2 (d18:0/14:0)2510.1PIGA, PIGT
18Ganglioside GT2 (d18:0/12:0)2510.1PIGA, PIGT
19Ganglioside GQ1c (d18:0/24:0)2510.1PIGA, PIGT
20Ganglioside GD1b (d18:1/26:1(17Z))2510.1PIGA, PIGT
21Ganglioside GD1b (d18:1/26:0)2510.0PIGA, PIGT
22Ganglioside GD1b (d18:0/26:0)2510.0PIGA, PIGT
23Ganglioside GD1b (d18:0/25:0)2510.0PIGA, PIGT
24Ganglioside GD1a (d18:1/25:0)2510.0PIGA, PIGT
25Ganglioside GD1a (d18:1/24:1(15Z))2510.0PIGA, PIGT
26Ganglioside GD1a (d18:0/24:1(15Z))2510.0PIGA, PIGT
27Ganglioside GD1a (d18:0/24:0)2510.0PIGA, PIGT
28Ganglioside GD2 (d18:0/26:1(17Z))259.9PIGT, PIGA
29Ganglioside GM3 (d18:0/26:1(17Z))259.9PIGA, PIGT
30Ganglioside GM3 (d18:0/26:0)259.9PIGA, PIGT
31Ganglioside GD3 (d18:1/22:1(13Z))259.8PIGA, PIGT
32Ganglioside GD3 (d18:1/18:1(11Z))259.8PIGA, PIGT
33Ganglioside GD2 (d18:1/12:0)259.8PIGA, PIGT
34Ganglioside GD3 (d18:0/14:0)259.7PIGA, PIGT
35fitc469.7CD59, CD55
36methylcellulose469.6PIGA, EPOR, CD59
37Ganglioside GD3 (d18:0/12:0)259.5PIGA, PIGT
38fmlp469.2CD59, FCGR3B, CD55
39inositol469.2EPOR, CD59, CD55
40anaphylatoxin469.1CD59, CD55, HP
41sialic acid469.1CD55, CD59, HP
42sucrose46 25 1211.0CD55, HP, CD59
43phospholipid469.0CD55, HP, CD59
44polysaccharide469.0FCGR3B, HP, CD55
45rituximab46 52 1210.6FCGR3B, HP, CD59, CD55
46iron46 259.5EPOR, CD55, HP, CD59
47glucose468.5HP, CD55, CD59, EPOR
48phosphatidylinositol468.4CD55, CD59, EPOR, FCGR3B, PIGA
49lipid468.1FCGR3B, HP, CD59, CD55, EPOR
50tyrosine468.1CD59, HP, EPOR, FCGR3B, CD55

GO Terms for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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17Gene Ontology
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Cellular components related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.6CD55, CD59, HP, EPOR, FCGR3B

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

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:0065019.8PIGT, PIGA
2regulation of complement activationGO:0304498.9CD55, CD59

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.9CD55, CD59, KLRC2, HP, EPOR, PIGT

Products for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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Sources for Paroxysmal Nocturnal Hemoglobinuria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet