CTEPH
MCID: CHR466
MIFTS: 43

Chronic Thromboembolic Pulmonary Hypertension (CTEPH) malady

Respiratory diseases, Blood diseases categories

Summaries for Chronic Thromboembolic Pulmonary Hypertension

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46OMIM, 32MalaCards
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MalaCards: Chronic Thromboembolic Pulmonary Hypertension, also known as CTEPH, is related to hypertension and pulmonary embolism. An important gene associated with Chronic Thromboembolic Pulmonary Hypertension is FABP3 (fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)), and among its related pathways are Dissolution of Fibrin Clot and glutamine degradation I. The compounds warfarin and heparin have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and integument.

Description from OMIM:46 612862

Aliases & Classifications for Chronic Thromboembolic Pulmonary Hypertension

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48Orphanet, 46OMIM, 60UMLS, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
chronic thromboembolic pulmonary hypertension:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

chronic thromboembolic pulmonary hypertension 48 46 60
cteph 48


External Ids:

OMIM46 612862
SNOMED-CT via Orphanet57 233947005
UMLS via Orphanet61 C2363973

Related Diseases for Chronic Thromboembolic Pulmonary Hypertension

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17GeneCards, 18GeneDecks
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Diseases related to Chronic Thromboembolic Pulmonary Hypertension via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension32.2NOS2, NOS3
2pulmonary embolism31.2SERPINC1, PLAT, F2, FGA, FGB, F13A1
3primary pulmonary hypertension31.0PTGIS, NOS2, NOS3, THBD, FGA, BMPR2
4sarcoma30.7F13A1, F8
5antiphospholipid syndrome30.7SERPINC1, THBD, PLAT, F2, F5, F8
6hereditary hemorrhagic telangiectasia30.3BMPR2
7thrombocytopenia30.3SERPINC1, THBD, F2, FGA, F5, F8
8cerebritis10.2
9hypertensive heart disease10.2
10thoracic outlet syndrome10.2
11anxiety disorder10.2
12bronchial disease10.2
13chronic pulmonary heart disease10.2
14esophagitis10.2
15schistosomiasis10.2
16ovarian cancer10.0FGA
17purpura10.0SERPINC1
18hemolytic-uremic syndrome10.0THBD
19thrombophlebitis10.0F8
20cerebrovascular disease10.0F13A1
21lupus nephritis10.0THBD
22intermittent claudication10.0HTR2A
23polycythemia vera10.0THBD
24hypothyroidism10.0F8
25chagas disease10.0NPPB
26migraine10.0HTR2A
27sneddon syndrome10.0SERPINC1
28acquired immunodeficiency syndrome10.0F8
29patent foramen ovale10.0F5
30stomach cancer10.0FGA
31hepatopulmonary syndrome10.0NOS3
32aortic aneurysm10.0CRP
33glaucoma10.0BMPR2
34anorexia nervosa10.0HTR2A
35crohn's disease10.0CRP
36ulcerative colitis10.0CRP
37familial mediterranean fever10.0CRP
38age related macular degeneration10.0PLAT
39pulmonary disease, chronic obstructive10.0CRP
40pancreatitis10.0CRP
41central retinal artery occlusion10.0PLAT
42carotid artery thrombosis10.0SERPINE1
43fibromyalgia10.0HTR2A
44varicose veins10.0F2
45graves' disease10.0NOS3
46homocysteinemia10.0F5
47intracranial aneurysm10.0NOS3
48mixed connective tissue disease10.0BMPR2
49glomerulonephritis10.0NOS2
50nephrotic syndrome10.0SERPINC1, FGA

Graphical network of the top 20 diseases related to Chronic Thromboembolic Pulmonary Hypertension:



Diseases related to chronic thromboembolic pulmonary hypertension

Clinical Features for Chronic Thromboembolic Pulmonary Hypertension

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46OMIM
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Clinical features from OMIM:

612862

Drugs & Therapeutics for Chronic Thromboembolic Pulmonary Hypertension

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Chronic Thromboembolic Pulmonary Hypertension

Drug clinical trials:

Search ClinicalTrials for Chronic Thromboembolic Pulmonary Hypertension

Search NIH Clinical Center for Chronic Thromboembolic Pulmonary Hypertension

Search CenterWatch for Chronic Thromboembolic Pulmonary Hypertension

Genetic Tests for Chronic Thromboembolic Pulmonary Hypertension

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Anatomical Context for Chronic Thromboembolic Pulmonary Hypertension

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Animal Models for Chronic Thromboembolic Pulmonary Hypertension or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Chronic Thromboembolic Pulmonary Hypertension:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538910.0F8, FGA, SERPINC1
2MP:00107719.9F2, FGA, FABP3
3MP:00053889.8BMPR2, F13A1, THBD, NOS3
4MP:00053909.1HTR2A, BMPR2, FGA, PLAT, NOS3
5MP:00053709.0FABP3, F5, FGA, THBD, NOS3, NOS2
6MP:00053698.9HTR2A, NPPB, FABP3, BMPR2, PLAT, NOS3
7MP:00053818.8HTR2A, FGA, F2, PLAT, THBD, NOS3
8MP:00053858.7PTGIS, NPPB, FABP3, BMPR2, CRP, F13A1
9MP:00053978.4F8, F13A1, FGA, F2, PLAT, THBD
10MP:00053878.2F8, BMPR2, CRP, FGA, F2, PLAT
11MP:00107687.9FABP3, F8, BMPR2, F5, F13A1, FGA
12MP:00053767.6F13A1, F5, CRP, BMPR2, F8, FABP3

Publications for Chronic Thromboembolic Pulmonary Hypertension

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Genetic Variations for Chronic Thromboembolic Pulmonary Hypertension

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Expression for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

Search GEO for disease gene expression data for Chronic Thromboembolic Pulmonary Hypertension.

Pathways for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

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Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 51QIAGEN, 52R&D Systems, 29KEGG
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Pathways related to Chronic Thromboembolic Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0SERPINE1, PLAT
2
Hide members
9.9NOS2, NOS3
3
NO-dependent CFTR activation (normal and CF)
9.9NOS2, NOS3
49.9FGB, FGA, PLAT
5
Hide members
9.9FGB, FGA, F2
69.9FGB, FGA, F2
79.8F13A1, CRP, F8
8
Cell adhesion ECM remodeling
Hide members
9.7SERPINE1, PLAT, FGA, FGB
9
Hide members
9.6FGB, FGA, F2, NOS3
10
Hide members
9.5FGB, FGA, F2, THBD, NOS3
119.5CRP, F2, PLAT, SERPINE1
12
Hide members
9.3F8, F5, F13A1, FGB, FGA, SERPINE1
13
Hide members
9.1SERPINC1, THBD, F2, FGA, FGB, F13A1
14
Hide members
8.7F8, F5, F13A1, FGB, FGA, F2
15
Hide members
8.4FGA, FGB, F13A1, F5, F8, F2
16
Hide members
8.4SERPINC1, SERPINE1, THBD, PLAT, F2, FGA

Compounds for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Chronic Thromboembolic Pulmonary Hypertension according to GeneCards/GeneDecks:

(show top 50)    (show all 219)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.5SERPINC1, FGA
2heparin44 28 11 2413.4FGA, F13A1, F8
3serine4410.2FGA, BMPR2, F8
4estrogen4410.1NPPB, F8, F13A1
5ximelagatran44 1110.9F5, F2, THBD, SERPINC1
6hirugen449.9F2, SERPINC1, THBD, F5, FGA
7endotoxin449.8F5, THBD, SERPINE1, F8, FGA
8spectrozyme449.8F2, SERPINC1, PLAT, F5
9fibrinopeptide a449.8PLAT, THBD, SERPINC1, F2, FGA
10p00001449.8CRP, F8, FABP3, NPPB, SERPINE1
1111-dehydrothromboxane b2449.8SERPINE1, F2, FGA, THBD
12bivalirudin44 1110.8FGA, SERPINC1, PLAT, F5, F2
13heparinoids449.8F2, SERPINC1, THBD, F5, F13A1
14Drotrecogin alfa119.8SERPINE1, THBD, F2, F5, F8
15fondaparinux449.7SERPINC1, F5, F2, PLAT, THBD
16tranexamic acid44 1110.7PLAT, F2, SERPINC1, F8, SERPINE1
17tirofiban44 1110.7NPPB, CRP, F2, SERPINC1, PLAT
18ristocetin449.7SERPINC1, PLAT, F8, F2, F5
198-isoprostane449.7NOS3, NPPB, CRP, THBD, SERPINE1
20batroxobin449.6F2, PLAT, SERPINE1, FGB, F5, FGA
21argatroban44 1110.6F2, PLAT, F5, THBD, SERPINC1, FGA
22gabexate mesilate449.6SERPINC1, PLAT, F5, CRP
23ppack449.6PLAT, FGA, F2, SERPINC1
24perindopril44 49 1111.6PLAT, NOS3, SERPINE1, CRP, NPPB, THBD
25cyclophosphamide44 49 1111.6NOS3, NPPB, F8, THBD, CRP, F5
26aprotinin44 1110.5PLAT, NPPB, THBD, SERPINE1, SERPINC1, F5
27protamine449.5SERPINC1, SERPINE1, PLAT, F2, FGA, F5
28nitroglycerin44 1110.5NPPB, NOS3, PLAT, PTGIS, CRP, NOS2
29clopidogrel49 44 11 2412.5NOS3, CRP, SERPINC1, F2, PLAT
30pge1449.5SERPINE1, THBD, F2, FGA, F5, PLAT
31polyethylene glycol449.4F5, F2, THBD, SERPINC1, CRP, F8
32ancrod449.4F5, FGA, F2, THBD, SERPINE1, PLAT
33fluvastatin44 49 28 1112.4NOS3, CRP, PLAT, SERPINE1, NOS2, THBD
34desmopressin44 59 28 1112.4F8, F5, F2, PLAT, SERPINC1, SERPINE1
35dermatan sulfate449.3F5, F2, PLAT, THBD, SERPINC1
36kininogen449.3F2, PLAT, F13A1, F5, THBD, SERPINC1
37atorvastatin44 49 28 11 2413.3NOS3, THBD, PLAT, CRP, SERPINE1, F5
38protamine sulfate449.2F5, SERPINC1, PLAT, F2
39citrate449.2F8, FABP3, F2, CRP, THBD, NOS3
40simvastatin44 49 59 28 11 2414.2F5, PLAT, CRP, F2, NOS3, THBD
41hirudin449.1F5, FGB, FGA, F8, THBD, SERPINE1
42lactate449.0CRP, THBD, F2, FGA, F5, F8
43cholesterol44 28 11 2411.9FGA, F8, CRP, FABP3, PLAT, F5
44ascorbic acid44 249.7NOS2, SERPINC1, NOS3, THBD, PLAT, CRP
45homocysteine44 249.7NPPB, F8, CRP, F5, F2, PLAT
46creatinine448.7FGA, F2, PLAT, THBD, SERPINE1, F5
47fibrinogen448.6PLAT, SERPINC1, SERPINE1, THBD, F2, FGA
48vegf448.6THBD, NOS3, SERPINC1, NOS2, SERPINE1, NPPB
49prostacyclin448.4SERPINC1, SERPINE1, PTGIS, NOS2, NOS3, THBD
50aspirin44 49 28 2411.2NPPB, SERPINC1, SERPINE1, PTGIS, NOS3, THBD

GO Terms for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

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16Gene Ontology
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Cellular components related to Chronic Thromboembolic Pulmonary Hypertension according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:03109110.2FGA, FGB
2fibrinogen complexGO:0055779.9FGA, FGB
3caveolaGO:0059019.7HTR2A, BMPR2, NOS3, PTGIS
4platelet alpha granule lumenGO:0310939.5SERPINE1, F8, F5, F13A1, FGB, FGA
5cell surfaceGO:0099869.5BMPR2, FGB, FGA, PLAT, THBD
6extracellular spaceGO:0056158.4NPPB, F8, CRP, F5, FGB, FGA
7extracellular regionGO:0055768.3F5, CRP, F8, NPPB, F13A1, FGB
8plasma membraneGO:0058867.9CRP, HLA-DPB1, BMPR2, F8, HTR2A, F5

Biological processes related to Chronic Thromboembolic Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:05125810.2FGA, FGB, CRP
2positive regulation of guanylate cyclase activityGO:03128410.1NOS2, NOS3
3negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.1SERPINE1, NOS3
4negative regulation of blood coagulationGO:03019510.1SERPINE1, THBD
5negative regulation of potassium ion transportGO:04326710.1HTR2A, NOS3
6arginine catabolic processGO:00652710.1NOS3, NOS2
7negative regulation of fibrinolysisGO:05191810.1F2, THBD, SERPINE1
8negative regulation of platelet activationGO:01054410.0NOS3, THBD, F2
9cellular response to lipopolysaccharideGO:07122210.0SERPINE1, NOS2, NFKBIL1
10acute-phase responseGO:00695310.0F8, CRP, F2
11positive regulation of blood coagulationGO:03019410.0F2, SERPINE1
12fibrinolysisGO:04273010.0SERPINE1, PLAT, F2
13positive regulation of angiogenesisGO:0457669.7NOS3, PTGIS, SERPINE1
14platelet degranulationGO:0025769.6F8, F5, F13A1, FGB, FGA, SERPINE1
15nitric oxide biosynthetic processGO:0068099.6NOS2, NOS3
16platelet activationGO:0301689.4F8, F5, F13A1, FGB, FGA, F2
17blood coagulationGO:0075968.2SERPINC1, F8, F5, F13A1, FGB, FGA

Molecular functions related to Chronic Thromboembolic Pulmonary Hypertension according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase activityGO:0045179.9NOS3, NOS2
2NADPH-hemoprotein reductase activityGO:0039589.9NOS2, NOS3
3tetrahydrobiopterin bindingGO:0346179.8NOS2, NOS3
4arginine bindingGO:0346189.6NOS2, NOS3
5receptor bindingGO:0051029.3SERPINE1, NOS2, F2, FGA, FGB, NPPB
6protein bindingGO:0055157.4NFKBIL1, F5, CRP, BMPR2, F8, FABP3

Products for genes affiliated with Chronic Thromboembolic Pulmonary Hypertension

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Sources for Chronic Thromboembolic Pulmonary Hypertension

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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