MCID: PRX003
MIFTS: 51

Paroxysmal Nocturnal Hemoglobinuria malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Metabolic diseases categories

Summaries for Paroxysmal Nocturnal Hemoglobinuria

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NIH Rare Diseases:41 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 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 alemtuzumab and fitc have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related mouse phenotypes are mortality/aging 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:63 Paroxysmal nocturnal hemoglobinuria (PNH), previously Marchiafava?Micheli syndrome, is a rare,... more...

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Paroxysmal Nocturnal Hemoglobinuria, Aliases & Descriptions:

Name: Paroxysmal Nocturnal Hemoglobinuria 30 9 41 21 47 60
Paroxysmal Hemoglobinuria Nocturnal 43 22
Marchiafava-Micheli Disease 41 47
 
Pnh 41 47
Marchiafava-Micheli Syndrome 21
Hemoglobinuria, Paroxysmal 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
paroxysmal nocturnal hemoglobinuria:
Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: any age


External Ids:

Disease Ontology9 DOID:0060284
MeSH33 D006457
ICD9CM27 283.2
Orphanet47 447
MESH via Orphanet34 D006457
ICD10 via Orphanet26 D59.5
UMLS via Orphanet61 C0024790
ICD1025 D59.5

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 Suite gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinuria32.6HP, PIGA, CD55, CD59
2aplastic anemia31.9CD59, PIGA, CD55
3thrombocytopenia31.2PIGA, MPL, HP
4hemolytic anemia30.8PIGA, HP, CD55, CD59
5neutropenia30.8FCGR3B, MPL, EPOR
6pancytopenia30.6CD55, HP, MPL
7refractory anemia30.6EPOR, MPL
8ischemia30.5CD59, CD55, HP, EPOR
9autoimmune hemolytic anemia30.5CD55, CD59, HP, PIGA
10myelodysplastic syndrome30.4TERC, PIGA, MPL, EPOR, CD59, CD55
11acute leukemia30.4EPOR, MPL, TERC
12thrombocytosis30.4MPL, EPOR, HP
13systemic lupus erythematosus30.2MPL, CD55, FCGR3B, KLRC2, CD59
14leukemia30.0TERC, PIGA, MPL, FCGR3B, EPOR, HP
15budd-chiari syndrome10.9
16paroxysmal nocturnal hemoglobinuria, somatic10.8
17cerebritis10.8
18heparin-induced thrombocytopenia10.7
19paroxysmal cold hemoglobinuria10.6
20hepatitis10.6
21paroxysmal nocturnal hemoglobinuria 210.5
22hematopoietic stem cell transplantation10.5
23myelofibrosis10.5
24hemosiderosis10.5
25retinitis10.5
26multiple myeloma10.5
27chronic lymphocytic leukemia10.5
28antiphospholipid syndrome10.5
29fanconi syndrome10.5
30splenic infarction10.5
31hepatic vein thrombosis10.5
32patent foramen ovale10.5
33cholangitis10.5
34lupus erythematosus10.5
35lymphoblastic leukemia10.5
36myeloma10.5
37papilledema10.5
38purpura10.5
39thymoma10.5
40sickle cell disease10.5
41inherited bone marrow failure syndromes10.5
42vesiculitis10.5
43endotheliitis10.5
44malaria10.4HP
45glycosylphosphatidylinositol deficiency10.3
46hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy10.3
47myocardial infarction10.3
48hodgkin lymphoma10.3
49acute monocytic leukemia10.3
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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Drug clinical trials:

Search ClinicalTrials for Paroxysmal Nocturnal Hemoglobinuria

Search NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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:

31
Bone, Bone marrow, Heart, Skin, T cells, Testes, Liver, Neutrophil, Kidney, Monocytes, Nk cells, Endothelial, Whole blood, Smooth muscle, Myeloid, B cells

Animal Models for Paroxysmal Nocturnal Hemoglobinuria or affiliated genes

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MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.1PIGA, MPL, EPOR, HP, CD59, CD55
2MP:00053977.0CD55, TERC, PIGA, MPL, EPOR, HP
3MP:00053846.8TERC, PIGA, MPL, SEMA7A, EPOR, HP

Publications for Paroxysmal Nocturnal Hemoglobinuria

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Articles related to Paroxysmal Nocturnal Hemoglobinuria:

(show top 50)    (show all 619)
idTitleAuthorsYear
1
Effective eculizumab therapy followed by BMT in a boy with paroxysmal nocturnal hemoglobinuria. (25868955)
2015
2
New Insights in Abdominal Pain in Paroxysmal Nocturnal Hemoglobinuria (PNH): A MRI Study. (25897796)
2015
3
Management of pregnancy in paroxysmal nocturnal hemoglobinuria on long-term eculizumab. (25688464)
2015
4
Eculizumab effect on the hemostatic state in patients with paroxysmal nocturnal hemoglobinuria. (25497169)
2015
5
Paroxysmal nocturnal hemoglobinuria. (25237200)
2014
6
A Systemic Lupus Erythematosus Patient with Isolated Neutropenia and Diminished Expression of CD55 and CD59 Similar to Paroxysmal Nocturnal Hemoglobinuria. (25330534)
2014
7
Paroxysmal nocturnal hemoglobinuria: a red clot syndrome. (24200143)
2014
8
Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. (25244093)
2014
9
Laboratory tests for paroxysmal nocturnal hemoglobinuria (PNH). (24127129)
2013
10
Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies. (22990701)
2013
11
Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry. (23387491)
2013
12
Long-term remission of paroxysmal nocturnal hemoglobinuria following chemoimmunotherapy for non-Hodgkin lymphoma. (22402359)
2012
13
A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous I^-thalassemia. (20556389)
2011
14
Safety and efficacy of the terminal complement inhibitor eculizumab in Japanese patients with paroxysmal nocturnal hemoglobinuria: the AEGIS clinical trial. (21222185)
2011
15
Thrombosis in patients with paroxysmal nocturnal hemoglobinuria. (21455865)
2011
16
Managing a pregnant patient with paroxysmal nocturnal hemoglobinuria in the era of eculizumab. (19954846)
2010
17
The management of paroxysmal nocturnal hemoglobinuria: recent advances in diagnosis and treatment and new hope for patients. (19171207)
2009
18
Eculizumab opens a new era of treatment for paroxysmal nocturnal hemoglobinuria. (21082989)
2009
19
A case of paroxysmal nocturnal hemoglobinuria presenting with intra-abdominal bleeding due to splenic rupture, developing renal infarct. (18479304)
2008
20
The role of flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria in the clinical laboratory. (17658408)
2007
21
Recent advances in biological and clinical aspects of paroxysmal nocturnal hemoglobinuria. (16926130)
2006
22
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
23
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
24
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
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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TERCNR_001566.1(TERC): n.-100C> Gsingle nucleotide variantPathogenicrs199422256GRCh37Chr 3, 169482948: 169482948
2PIGANM_002641.3(PIGA): c.1188+2delTdeletionPathogenicGRCh37Chr X, 15342785: 15342785
3PIGANM_002641.3(PIGA): c.294C> A (p.Tyr98Ter)single nucleotide variantPathogenicrs199422232GRCh37Chr X, 15349759: 15349759
4PIGANM_002641.3(PIGA): c.459_460insA (p.His154Thrfs)insertionPathogenicGRCh37Chr X, 15349593: 15349594
5PIGANM_002641.3(PIGA): c.1115delC (p.Pro372Glnfs)deletionPathogenicGRCh38Chr X, 15324738: 15324738
6PIGANM_002641.3(PIGA): c.163C> T (p.Gln55Ter)single nucleotide variantPathogenicrs199422233GRCh37Chr X, 15349890: 15349890
7PIGANM_002641.3(PIGA): c.249_250insGT (p.Thr84Valfs)insertionPathogenicGRCh37Chr X, 15349803: 15349804
8PIGANM_002641.3(PIGA): c.431delC (p.Thr144Lysfs)deletionPathogenicGRCh37Chr X, 15349622: 15349622
9PIGANM_002641.3(PIGA): c.1323_1324delCT (p.Leu442Glufs)deletionPathogenicGRCh37Chr X, 15339759: 15339760
10PIGAPIGA, IVS5DS, G-A, +1, SOMATICsingle nucleotide variantPathogenic
11PIGAPIGA, 2-BP INS/32-BP DUP, SOMATICduplicationPathogenic

Expression for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9PIGT, PIGA
29.0CD55, CD59, EPOR

Compounds for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1alemtuzumab43 1211.0FCGR3B, PIGA
2fitc439.6CD55, CD59
3methylcellulose439.5CD59, EPOR, PIGA
4anaphylatoxin439.4CD55, CD59, HP
5fmlp439.4FCGR3B, CD59, CD55
6sialic acid439.4CD55, CD59, HP
7sucrose43 24 1211.3HP, CD59, CD55
8inositol439.2CD55, CD59, EPOR
9rituximab43 49 1211.1CD55, CD59, HP, FCGR3B
10aspirin43 49 28 2412.0CD59, HP, MPL
11gp 130438.8MPL, EPOR, HP
12agar438.8TERC, MPL, EPOR
13lipid438.1TERC, FCGR3B, EPOR, HP, CD59, CD55
14vegf438.1CD55, HP, EPOR, MPL
15iron43 249.0MPL, EPOR, HP, CD59, CD55
16phosphatidylinositol437.8PIGA, MPL, FCGR3B, EPOR, CD59, CD55
17alanine437.8CD55, HP, EPOR, MPL
18serine437.6MPL, FCGR3B, EPOR, HP, CD55
19tyrosine437.1MPL, FCGR3B, SEMA7A, EPOR, HP, CD59

GO Terms for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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Cellular components related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312258.8CD55, SEMA7A, FCGR3B
2extracellular regionGO:00055768.2CD55, CD59, HP, EPOR, FCGR3B

Biological processes related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1C-terminal protein lipidationGO:00065019.9PIGT, PIGA
2regulation of complement activationGO:00304499.3CD55, CD59

Molecular functions related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.0CD55, CD59, KLRC2, HP, EPOR, SEMA7A

Products for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet