PNH
MCID: PRX003
MIFTS: 44

Paroxysmal Nocturnal Hemoglobinuria (PNH) malady

Immune diseases, Blood diseases categories

Summaries for Paroxysmal Nocturnal Hemoglobinuria

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 heart and skin, 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:63 Paroxysmal nocturnal hemoglobinuria (PNH), sometimes referred to as Marchiafava-Micheli syndrome, is a... more...

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 30LifeMap Discovery™, 60UMLS, 44Novoseek, 25ICD10
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Classifications:

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


Aliases & Descriptions:

paroxysmal nocturnal hemoglobinuria 42 22 21 30 60
paroxysmal hemoglobinuria nocturnal 44
marchiafava-micheli syndrome 21
marchiafava-micheli disease 42
hemoglobinuria, paroxysmal 21
pnh 42


External Ids:

ICD1025 D59.5

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria

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17GeneCards, 18GeneDecks
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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 122)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobinuria32.4PIGA, CD59, CD55, HP
2aplastic anemia31.5CD59, CD55, PIGA
3leukemia31.2MPL, KLRK1, PIGA, EPOR, HP, GPLD1
4acute leukemia31.1PLAUR, EPOR, MPL
5pancytopenia30.7MPL, CD55, HP
6hemolytic anemia30.7HP, PIGA, CD59, CD55
7myelofibrosis30.7MPL
8hepatitis30.7HP
9myeloma30.6EPOR, KLRK1
10ischemia30.6HP, EPOR, CD55, CD59
11systemic lupus erythematosus30.4FCGR3B
12myeloid leukemia30.4MPL, GPLD1
13myocardial infarction30.4CD55, CD59
14autoimmune hemolytic anemia30.4HP, CD59, CD55, PIGA
15thrombocytosis30.4HP, MPL, EPOR
16deficiency anemia30.3EPOR, CD59, HP, MPL, PIGA, CD55
17thrombocytopenia10.7
18cerebritis10.7
19paroxysmal nocturnal hemoglobinuria, somatic10.6
20retinitis10.6
21stroke, ischemic10.5
22hemosiderosis10.5
23splenic infarction10.5
24hepatic vein thrombosis10.5
25complement deficiency10.5
26antiphospholipid syndrome10.4
27patent foramen ovale10.4
28fanconi syndrome10.4
29hepatitis a10.4
30cholangitis10.4
31chronic lymphocytic leukemia10.4
32lymphoblastic leukemia10.4
33multiple myeloma10.4
34papilledema10.4
35purpura10.4
36thymoma10.4
37sickle cell disease10.4
38paroxysmal nocturnal hemoglobinuria 210.4
39paroxysmal cold hemoglobinuria10.3
40graft versus host disease10.3
41central retinal artery occlusion10.3
42protein-deficiency anemia10.3
43non-hodgkin lymphoma10.3
44duodenal ulcer10.3
45tropical spastic paraparesis10.3
46acute monocytic leukemia10.3
47leukemoid reaction10.3
48obstructive jaundice10.3
49acquired thrombocytopenia10.3
50acute myeloid leukemia10.3

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



Diseases related to paroxysmal nocturnal hemoglobinuria

Clinical Features for Paroxysmal Nocturnal Hemoglobinuria

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Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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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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

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32MalaCards
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MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria:

32
Heart, Skin

Animal Models for Paroxysmal Nocturnal Hemoglobinuria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Paroxysmal Nocturnal Hemoglobinuria:

36
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

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Genetic Variations for Paroxysmal Nocturnal Hemoglobinuria

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Expression for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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1BioGPS, 15Gene 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Paroxysmal Nocturnal Hemoglobinuria according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1anaphylatoxin4410.7CD59, CD55, HP
2eaca4410.7PLAU, PLAUR
3alemtuzumab44 1111.7CD52, FCGR3B, PIGA
4methylcellulose4410.7PIGA, CD59, EPOR
5hirudin4410.6PLAU, CD55, PLAUR
6p-amino benzamidine4410.6PLAU, PLAUR
7pimonidazole4410.6EPOR, PLAUR
8n-formylmethionyl-leucylphenylalanine4410.6FCGR3B, PLAUR, CD55
9glycolipid4410.6CD59, PLAUR, PLAU, CD55
10phytosphingosine44 2411.6PIGH, PIGA, PIGF
11saporin4410.6PLAU, PLAUR
12sphinganine 1-phosphate44 2411.6PIGA, PIGF, PIGH
13Urokinase1110.6PLAUR, PLAU
14sphinganine44 2411.6PIGF, PIGA, PIGH
15sphingosine 1-phosphate28 2411.6PIGF, PIGA, PIGH
16gp 1304410.6PLAUR, HP, EPOR, MPL
17kininogen4410.6PLAUR, PLAU, HP
18sucrose44 11 2412.6HP, PLAUR, CD59, CD55
19sialic acid4410.6GPLD1, CD52, CD55, CD59
20inositol4410.5GPLD1, EPOR, CD55, CD59
21dihydroceramide44 2411.5PIGH, PIGA, PIGF
22rituximab44 49 1112.5FCGR3B, HP, CD52, CD55, CD59
23fmlp4410.5CD59, FCGR3B, CEACAM8, CD55, PLAUR
24glucosylceramide44 2411.5PIGH, PIGF, PIGA
25aspirin44 49 28 2413.5MPL, PLAU, PLAUR, CD59, HP
26n-acetylglucosamine4410.5PLAUR, PIGA, PIGH
27actinomycin d4410.5EPOR, PLAUR, PLAU, HP, CD55
28sphingosine44 11 2412.5PLAUR, PIGH, PLAU, PIGA, PIGF
29alpha-amanitin4410.5PLAU, PLAUR
30iron44 2411.5HP, CD59, MPL, PLAUR, CD55, EPOR
31tranexamic acid44 1111.4PLAU, PLAUR
32polysaccharide4410.4CD55, CD52, PLAU, FCGR3B, GPLD1, HP
33suramin44 28 1112.4PLAUR, PLAU, GPLD1
34phospholipid4410.4CD55, GPLD1, HP, CD59
35alanine4410.3PLAUR, PLAU, HP, EPOR, MPL, CD55
36vegf4410.3HP, PLAU, PLAUR, CD55, MPL, PIGF
37cysteine4410.3PLAU, HP, KIR2DS4, PLAUR, CD55, MPL
38h2o24410.3FCGR3B, HP, GPLD1, PLAUR, PLAU
39lipid4410.3GPLD1, FCGR3B, PLAUR, HP, EPOR, CD59
40oxygen44 2411.3EPOR, PIGF, KLRK1, PLAUR, CD59, CD55
41glucose4410.2EPOR, PLAUR, CD59, HP, CD55, GPLD1
42udp-n-acetylglucosamine4410.2PIGA, PIGH
43phosphatidylinositol-3,4,5-trisphosphate44 2411.2PIGF, PIGH, PIGA
44cholesterol44 28 11 2413.1GPLD1, CD59, CD55, HP, PLAUR
45calcium44 49 11 2413.1FCGR3B, PLAUR, EPOR, GPLD1, CD55, CD160
46serine4410.1FCGR3B, HP, EPOR, CD55, MPL
47phosphatidylinositol4410.0MPL, FCGR3B, PLAUR, PLAU, GPLD1, KLRK1
48atorvastatin44 49 28 11 2414.0CD55, CD59, PLAU
49tyrosine449.9PIGF, SEMA7A, MPL, CD160, CD59, CD55

GO Terms for genes affiliated with Paroxysmal Nocturnal Hemoglobinuria

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16Gene Ontology
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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:00998610.2CD59, CD55, PLAU, PLAUR
3anchored to membraneGO:03122510.1CD55, CEACAM8, SEMA7A, FCGR3B, PLAUR, CD52
4integral to plasma membraneGO:0058879.8CEACAM8, KIR2DS4, PLAUR, EPOR, CD52, CD55
5extracellular regionGO:0055769.7CD55, CD59, FCGR3B, PLAUR, PLAU, HP
6plasma membraneGO:0058869.5KLRC2, MPL, CD160, CD59, CEACAM8, SEMA7A

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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet