PNH
MCID: PRX003
MIFTS: 54

Paroxysmal Nocturnal Hemoglobinuria (PNH) malady

Rare diseases, Blood diseases categories
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Summaries for Paroxysmal Nocturnal Hemoglobinuria

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NIH Rare Diseases:42 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 based summary: Paroxysmal Nocturnal Hemoglobinuria, also known as paroxysmal hemoglobinuria nocturnal, is related to aplastic anemia and hemoglobinuria. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria is TERC (telomerase RNA component), and among its related pathways is Post-translational modification- synthesis of GPI-anchored proteins. The compounds Ganglioside GT1b (d18:0/16:0) and Ganglioside GT1b (d18:1/16:0) 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: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:65 Paroxysmal nocturnal hemoglobinuria (PNH), previously Marchiafava?Micheli syndrome, is a rare,... more...

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

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Paroxysmal Nocturnal Hemoglobinuria, Aliases & Descriptions:

Name: Paroxysmal Nocturnal Hemoglobinuria 30 42 22 21 62
Paroxysmal Hemoglobinuria Nocturnal 44
Marchiafava-Micheli Syndrome 21
 
Marchiafava-Micheli Disease 42
Hemoglobinuria, Paroxysmal 21
Pnh 42


Classifications:

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


Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

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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 121)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia32.1TERC
2hemoglobinuria32.1PIGA, CD59, HP, CD55
3myelodysplastic syndromes30.8TERC, PIGA, CD59, CD55
4pancytopenia30.8HP, CD55
5hemolytic anemia30.3CD55, CD59, HP, PIGA
6paroxysmal nocturnal hemoglobinuria, somatic30.2CD59, PIGA, FCGR3B, HP, CD55
7leukemia30.2TERC, FCGR3B, CD59, PIGA, HP, CD55
8systemic lupus erythematosus30.2CD55, FCGR3B, KLRC2, CD59
9ischemia30.1CD59, CD55, HP
10autoimmune hemolytic anemia30.0CD55, HP, PIGA, CD59
11thrombocytopenia10.8
12cerebritis10.8
13heparin-induced thrombocytopenia10.7
14venous thrombosis10.7
15paroxysmal cold hemoglobinuria10.6
16hepatitis10.6
17retinitis10.6
18hematopoietic stem cell transplantation10.5
19myelofibrosis10.5
20hemosiderosis10.5
21acute leukemia10.5
22acute lymphoblastic leukemia10.5
23chronic lymphocytic leukemia10.5
24multiple myeloma10.5
25neutropenia10.5
26antiphospholipid syndrome10.5
27splenic infarction10.5
28fanconi syndrome10.5
29patent foramen ovale10.5
30duodenitis10.5
31hepatic vein thrombosis10.5
32cholangitis10.5
33lupus erythematosus10.5
34lymphoblastic leukemia10.5
35myeloma10.5
36papilledema10.5
37purpura10.5
38thymoma10.5
39sickle cell disease10.5
40inherited bone marrow failure syndromes10.5
41paroxysmal nocturnal hemoglobinuria 210.5
42vesiculitis10.5
43endotheliitis10.5
44malaria10.3HP
45acute monocytic leukemia10.3
46acute myeloid leukemia10.3
47end stage renal failure10.3
48graft versus host disease10.3
49hypertension10.3
50myocardial infarction10.3

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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Drug clinical trials:

Search ClinicalTrials for Paroxysmal Nocturnal Hemoglobinuria

Search NIH Clinical Center 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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Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria:

id Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria22

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria

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MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

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

Animal Models for Paroxysmal Nocturnal Hemoglobinuria or affiliated genes

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MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.0CD55, CD59, HP, PIGA, TERC

Publications for Paroxysmal Nocturnal Hemoglobinuria

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Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50)    (show all 611)
idTitleAuthorsYear
1
Paroxysmal nocturnal hemoglobinuria. (25237200)
2014
2
A Systemic Lupus Erythematosus Patient with Isolated Neutropenia and Diminished Expression of CD55 and CD59 Similar to Paroxysmal Nocturnal Hemoglobinuria. (25330534)
2014
3
Paroxysmal nocturnal hemoglobinuria: a red clot syndrome. (24200143)
2014
4
Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. (25244093)
2014
5
Laboratory tests for paroxysmal nocturnal hemoglobinuria (PNH). (24127129)
2013
6
Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies. (22990701)
2013
7
Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry. (23387491)
2013
8
A Prospective Multicenter Study of Paroxysmal Nocturnal Hemoglobinuria Cells in Patients with Bone Marrow Failure. (24127323)
2013
9
Long-term remission of paroxysmal nocturnal hemoglobinuria following chemoimmunotherapy for non-Hodgkin lymphoma. (22402359)
2012
10
A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous I^-thalassemia. (20556389)
2011
11
Safety and efficacy of the terminal complement inhibitor eculizumab in Japanese patients with paroxysmal nocturnal hemoglobinuria: the AEGIS clinical trial. (21222185)
2011
12
Thrombosis in patients with paroxysmal nocturnal hemoglobinuria. (21455865)
2011
13
Managing a pregnant patient with paroxysmal nocturnal hemoglobinuria in the era of eculizumab. (19954846)
2010
14
Paroxysmal nocturnal hemoglobinuria turning Coombs-positive. (20140782)
2010
15
The management of paroxysmal nocturnal hemoglobinuria: recent advances in diagnosis and treatment and new hope for patients. (19171207)
2009
16
Eculizumab opens a new era of treatment for paroxysmal nocturnal hemoglobinuria. (21082989)
2009
17
A case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarct. (18479304)
2008
18
The role of flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria in the clinical laboratory. (17658408)
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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Clinvar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria:

6
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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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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Pathways related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7PIGT, PIGA

Compounds for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 436)
idCompoundScoreTop Affiliating Genes
1Ganglioside GT1b (d18:0/16:0)2410.1PIGA, PIGT
2Ganglioside GT1b (d18:1/16:0)2410.1PIGT, PIGA
3Ganglioside GT1b (d18:1/18:0)2410.1PIGT, PIGA
4Ganglioside GT1c (d18:0/18:0)2410.1PIGT, PIGA
5Ganglioside GT1c (d18:0/18:1(11Z))2410.1PIGT, PIGA
6Ganglioside GT1b (d18:0/14:0)2410.1PIGA, PIGT
7Ganglioside GM3 (d18:1/23:0)2410.1PIGA, PIGT
8Ganglioside GQ1c (d18:0/12:0)2410.1PIGT, PIGA
9Ganglioside GQ1c (d18:1/12:0)2410.1PIGT, PIGA
10Ganglioside GQ1c (d18:1/14:0)2410.1PIGT, PIGA
11Ganglioside GT1c (d18:1/18:1(11Z))2410.1PIGT, PIGA
12Ganglioside GT3 (d18:1/23:0)2410.1PIGT, PIGA
13Ganglioside GT3 (d18:1/22:1(13Z))2410.1PIGA, PIGT
14Ganglioside GT3 (d18:0/22:1(13Z))2410.1PIGA, PIGT
15Ganglioside GT3 (d18:0/22:0)2410.1PIGA, PIGT
16Ganglioside GT2 (d18:1/22:0)2410.1PIGA, PIGT
17Ganglioside GT2 (d18:1/20:0)2410.0PIGA, PIGT
18Ganglioside GT2 (d18:0/20:0)2410.0PIGA, PIGT
19Ganglioside GT2 (d18:0/18:1(9Z))2410.0PIGA, PIGT
20Ganglioside GT1c (d18:1/18:1(9Z))2410.0PIGA, PIGT
21alemtuzumab44 1111.0PIGA, FCGR3B
22Ganglioside GD1b (d18:1/16:0)2410.0PIGA, PIGT
23Ganglioside GD1b (d18:0/18:0)2410.0PIGA, PIGT
24Ganglioside GD1b (d18:0/16:0)2410.0PIGA, PIGT
25Ganglioside GD1b (d18:0/14:0)2410.0PIGA, PIGT
26Ganglioside GD1a (d18:1/16:0)2410.0PIGA, PIGT
27Ganglioside GD1a (d18:1/14:0)2410.0PIGA, PIGT
28Ganglioside GD1a (d18:1/12:0)2410.0PIGA, PIGT
29Ganglioside GD1a (d18:0/14:0)249.9PIGA, PIGT
30Ganglioside GD1a (d18:0/12:0)249.9PIGA, PIGT
31fitc449.9CD55, CD59
32Ganglioside GD1b (d18:1/18:0)249.9PIGT, PIGA
33Ganglioside GD1b (d18:1/18:1(11Z))249.9PIGT, PIGA
34Ganglioside GM3 (d18:0/18:0)249.9PIGA, PIGT
35Ganglioside GM3 (d18:0/16:0)249.8PIGA, PIGT
36Ganglioside GD3 (d18:0/20:0)249.8PIGA, PIGT
37Ganglioside GD3 (d18:0/18:1(9Z))249.8PIGA, PIGT
38Ganglioside GD2 (d18:1/20:0)249.7PIGA, PIGT
39Ganglioside GD2 (d18:0/18:0)249.7PIGA, PIGT
40Ganglioside GD2 (d18:1/18:1(11Z))249.6PIGA, PIGT
41fmlp449.4CD59, CD55, FCGR3B
42Ganglioside GD2 (d18:0/18:1(11Z))249.4PIGA, PIGT
43anaphylatoxin449.1CD59, CD55, HP
44sialic acid449.1CD55, HP, CD59
45sucrose44 24 1111.1CD59, CD55, HP
46phospholipid449.1CD55, CD59, HP
47polysaccharide449.0HP, CD55, FCGR3B
48phosphatidylinositol449.0PIGA, FCGR3B, CD59, CD55
49rituximab44 50 1110.6CD59, CD55, HP, FCGR3B
50lipid448.3CD55, TERC, CD59, HP, FCGR3B

GO Terms for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:0065019.7PIGT, PIGA
2regulation of complement activationGO:0304499.2CD55, CD59

Products for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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  • Antibodies
  • Proteins
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Sources for Paroxysmal Nocturnal 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet