MCID: END021
MIFTS: 47

Endomyocardial Fibrosis malady

Categories: Rare diseases, Cardiovascular diseases, Muscle diseases

Aliases & Classifications for Endomyocardial Fibrosis

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Aliases & Descriptions for Endomyocardial Fibrosis:

Name: Endomyocardial Fibrosis 11 46 13 48 37 66
Obscure African Cardiomyopathy 11 66
Emf 41 2
African Endomyocardial Fibrosis 11
 
Becker Muscular Dystrophy 66
Endomyocardial Sclerosis 11
Becker's Disease 11

Classifications:



External Ids:

Disease Ontology11 DOID:12932
ICD9CM30 425.0
MeSH37 D004719
NCIt43 C34585

Summaries for Endomyocardial Fibrosis

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Wikipedia:69 The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil... more...

MalaCards based summary: Endomyocardial Fibrosis, also known as obscure african cardiomyopathy, is related to churg-strauss syndrome and systemic lupus erythematosus, and has symptoms including weakness An important gene associated with Endomyocardial Fibrosis is DMD (Dystrophin), and among its related pathways are IL-10 Pathway and IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types. Affiliated tissues include heart, bone and bone marrow, and related mouse phenotypes are liver/biliary system and respiratory system.

CDC:2 NIOSH research on protecting workers from proven and possible EMF health risks focuses on:

Related Diseases for Endomyocardial Fibrosis

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Diseases related to Endomyocardial Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1churg-strauss syndrome30.2IL10, IL4, TNF
2systemic lupus erythematosus28.9IL10, IL4, TNF
3tropical endomyocardial fibrosis12.3
4myotonia congenita, recessive11.3
512p12.1 microdeletion syndrome10.5IL10, TNF
6piepkorn karp hickok syndrome10.5IL10, TNF
7multiple carboxylase deficiency, propionic acidemia10.5IL10, TNF
8graft-versus-host disease, protection against10.5IL10, TNF
9fallopian tube endometriosis10.5IL10, TNF
10ethmoid sinus adenoid cystic carcinoma10.5IL10, TNF
11addison's disease10.5IL10, TNF
12panuveitis10.5IL10, TNF
13hernia of ovary and fallopian tube10.5IL10, TNF
14burns10.5IL10, TNF
15papillary transitional carcinoma10.5IL10, TNF
16cauda equina syndrome10.5IL10, TNF
17pseudoretinitis pigmentosa10.5IL10, TNF
18idiopathic central precocious puberty10.5IL10, TNF
19sensorineural hearing loss10.5IL10, TNF
20psychologic dyspareunia10.5IL10, TNF
21mastocytosis cutaneous with short stature conductive hearing loss and microtia10.5IL10, TNF
22hemophagocytic lymphohistiocytosis10.5IL10, TNF
23primary biliary cirrhosis10.5IL10, TNF
24leukostasis10.5IL10, TNF
25allergic hypersensitivity disease10.5IL10, TNF
26paratyphoid fever10.5IL10, TNF
27accessory nerve disease10.5IL10, TNF
28dementia - subcortical10.5IL10, TNF
29hypospadias10.5IL10, TNF
30gastric dilatation10.4IL10, TNF
31bile duct signet ring cell carcinoma10.4IL10, TNF
32kidney angiomyolipoma10.4IL10, TNF
33ehlers-danlos syndrome, musculocontractural type10.4IL10, TNF
34proximal symphalangism10.4IL10, TNF
35serous labyrinthitis10.4IL10, TNF
36corneal intraepithelial neoplasm10.4IL10, TNF
37pediatric supratentorial ependymoma10.4IL10, TNF
38gonococcal synovitis10.4IL4, TNF
39retroperitoneal fibrosis10.4IL10, TNF
40reproductive system disease10.4IL10, TNF
41intestinal variant cervical mucinous adenocarcinoma10.4IL10, TNF
42lymphocytic colitis10.4IL4, TNF
43alopecia10.4IL10, TNF
44neonatal period electroclinical syndrome10.4IL10, TNF
45renal cell carcinoma 410.4IL4, TNF
46subendocardial infarction acute myocardial infarction10.4IL10, TNF
47atrichia with papular lesions10.4IL4, TNF
48spondylolysis10.4IL10, TNF
49alcohol abuse10.4IL10, TNF
50gait apraxia10.4IL4, TNF

Comorbidity relations with Endomyocardial Fibrosis via Phenotypic Disease Network (PDN):


Ischemic Heart DiseaseFamilial Atrial Fibrillation
Heart DiseaseAcute Cystitis

Graphical network of the top 20 diseases related to Endomyocardial Fibrosis:



Diseases related to endomyocardial fibrosis

Symptoms for Endomyocardial Fibrosis

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UMLS symptoms related to Endomyocardial Fibrosis:


weakness

Drugs & Therapeutics for Endomyocardial Fibrosis

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Drugs for Endomyocardial Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diureticsPhase 21338
2
SpironolactonePhase 22171952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
3
Iodine5167553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
4cadexomer iodine484

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intravenous Immunoglobulin (IVIg) for Parvovirus B19(PVB19) Mediated CardiomyopathyRecruitingNCT00892112Phase 3
2Spironolactone in Adult Congenital Heart DiseaseActive, not recruitingNCT01069510Phase 2
3IVIg Therapy for Patients With Idiopathic Cardiomyopathy and Endomyocardial Biopsy Proven High PVB19 Viral LoadRecruitingNCT00659386Phase 1
4Left Atrial Volume Index in Asymptomatic Aortic StenosisCompletedNCT02395107
5Noninvasive Imaging of Heart Failure: A Pilot StudyCompletedNCT01160471
6The Genetic Basis of Acquired Heart Disease in AfricaRecruitingNCT02124109
7The Leiden Nonischemic Cardiomyopathy StudyRecruitingNCT01940081
8Magnetic Resonance Imaging and FibrosisRecruitingNCT02790008
9Assessment of Myocardial Fibrosis in Aortic STenosisActive, not recruitingNCT02316587

Search NIH Clinical Center for Endomyocardial Fibrosis


Cochrane evidence based reviews: endomyocardial fibrosis

Genetic Tests for Endomyocardial Fibrosis

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Anatomical Context for Endomyocardial Fibrosis

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MalaCards organs/tissues related to Endomyocardial Fibrosis:

34
Heart, Bone, Bone marrow, Skin, Lung, Skeletal muscle, Brain

Animal Models for Endomyocardial Fibrosis or affiliated genes

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MGI Mouse Phenotypes related to Endomyocardial Fibrosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4DMD, IL10, IL4, TNF
2MP:00053888.2DMD, IL10, IL4, TNF
3MP:00053818.1DMD, IL10, IL4, TNF
4MP:00053897.8CLCN1, DMD, IL10, IL4, TNF
5MP:00030127.7CLCN1, DMD, IL10, IL4, TNF
6MP:00053907.6CLCN1, DMD, IL10, IL4, TNF
7MP:00053917.3CLCN1, DMD, IL10, IL4, TNF

Publications for Endomyocardial Fibrosis

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Articles related to Endomyocardial Fibrosis:

(show top 50)    (show all 454)
idTitleAuthorsYear
1
A Rare Case of Mitral Valve Prolapse in Endomyocardial Fibrosis. (27549547)
2016
2
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
3
Endomyocardial fibrosis in patients with confirmed Churg-Strauss syndrome. (24158754)
2014
4
Endomyocardial fibrosis: the first report from Malawi. (22595215)
2012
5
Endomyocardial fibrosis in the context of hypereosinophilic syndrome: the contribution of cardiac MRI. (22819397)
2012
6
Schistosomiasis and tropical endomyocardial fibrosis with pulmonary hypertension. (21592640)
2011
7
Systemic thromboembolism in endomyocardial fibrosis (EMF): clinical observations, aetio-pathogenesis and treatment. (21416790)
2010
8
Searching for new clues about the molecular cause of endomyocardial fibrosis by way of in silico proteomics and analytical chemistry. (19823676)
2009
9
Typical clinical aspect of endomyocardial fibrosis. (16257072)
2006
10
What do we know about endomyocardial fibrosis in children of Africa? (16830081)
2006
11
Pitfalls in diagnosis and clinical, echocardiographic, and hemodynamic findings in endomyocardial fibrosis: a 25-year experience. (16354870)
2005
12
Endomyocardial fibrosis of right ventricle. (11163568)
2001
13
Atrial fibrillation in endomyocardial fibrosis is a marker of worse prognosis. (9880197)
1998
14
Accumulation of glycosaminoglycans associated with hypomagnesaemia in endomyocardial fibrosis in Kerala: possible involvement of dietary factors. (9130425)
1997
15
Right-sided endomyocardial fibrosis with recurrent pulmonary emboli leading to irreversible pulmonary hypertension. (1389768)
1992
16
Effectiveness of operative and nonoperative therapy in endomyocardial fibrosis. (2711999)
1989
17
Operative results in endomyocardial fibrosis. (2919568)
1989
18
Surgical treatment of endomyocardial fibrosis. (3800484)
1987
19
Unusual echocardiographic appearance of intracardiac thrombi in a patient with endomyocardial fibrosis. (3730220)
1986
20
Postoperative evaluation of endomyocardial fibrosis. (3955583)
1986
21
Simulation of acute myopericarditis by constrictive pericardial disease with endomyocardial fibrosis due to methysergide therapy. (6736450)
1984
22
Phonomechanocardiographic findings in endomyocardial fibrosis. (6696288)
1984
23
Endomyocardial fibrosis in Thai children. (6491562)
1984
24
Surgical palliation for endomyocardial fibrosis. (6695359)
1984
25
Endomyocardial fibrosis with successful surgical treatment in a Hungarian woman. (6617211)
1983
26
Technical aspects in surgery for endomyocardial fibrosis: experience with 37 patients. (15227123)
1983
27
Coronary angiographic features in endomyocardial fibrosis. (6193879)
1983
28
Pathological aspects of endomyocardial fibrosis. (6844195)
1983
29
Endomyocardial fibrosis in Africa. (6844202)
1983
30
M-mode echocardiographic features of endomyocardial fibrosis. (7104113)
1982
31
Echocardiographic findings in endomyocardial fibrosis. (7083941)
1982
32
Controversies and advances in endomyocardial fibrosis: a review. (6301241)
1982
33
Relation of severe eosinophilia and microfilariasis to chronic African endomyocardial fibrosis. (7259917)
1981
34
Endomyocardial fibrosis in Kerala State. (7309046)
1980
35
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977
36
Endomyocardial fibrosis and eosinophilia. (849383)
1977
37
LAPffler's endocarditis and endomyocardial fibrosis. Pathological aspects. (1228569)
1975
38
Studies on the experimental production of endomyocardial fibrosis and cardiomegaly of unknown origin by dietary means. (125535)
1975
39
Morphogenesis of endomyocardial fibrosis. (4544107)
1973
40
Immunoglobulins and antibody to Loa loa in Nigerians with endomyocardial fibrosis and other heart diseases. (4625267)
1972
41
The electrocardiogram in endomyocardial fibrosis. (5160381)
1971
42
Endomyocardial fibrosis presenting as chronic pericardial effusion. (5678613)
1968
43
Clinical features of endomyocardial fibrosis of the right ventricle. (5656835)
1968
44
Immunological studies in endomyocardial fibrosis and other forms of heart-disease in the tropics. (4163977)
1967
45
Plantain diets, serotonin, and endomyocardial fibrosis. (6019204)
1967
46
Urinary excretion of 5-hydroxy-indoleacetic acid in nigerians with endomyocardial fibrosis. (4159964)
1966
47
Endomyocardial fibrosis: two cases with severe pulmonary hypertension presenting in England. (5859364)
1965
48
ADULT ENDOMYOCARDIAL FIBROSIS IN BRITAIN. (14044273)
1963
49
Intracardiac calcification in endomyocardial fibrosis. (13915097)
1962
50
Endomyocardial fibrosis in a North American Indian. (13638931)
1958

Variations for Endomyocardial Fibrosis

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Clinvar genetic disease variations for Endomyocardial Fibrosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
2DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
3DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398

Expression for genes affiliated with Endomyocardial Fibrosis

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Search GEO for disease gene expression data for Endomyocardial Fibrosis.

Pathways for genes affiliated with Endomyocardial Fibrosis

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Pathways related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.3IL10, TNF
2
Show member pathways
9.3IL10, TNF
39.3IL10, TNF
49.3IL10, TNF
59.0IL10, IL4
69.0IL10, IL4
79.0IL10, IL4
88.5IL10, IL4, TNF
98.5IL10, IL4, TNF
10
Show member pathways
8.5IL10, IL4, TNF
118.5IL10, IL4, TNF
12
Show member pathways
8.5IL10, IL4, TNF
138.5IL10, IL4, TNF
148.5IL10, IL4, TNF
15
Show member pathways
8.5IL10, IL4, TNF
16
Show member pathways
8.5IL10, IL4, TNF
178.5IL10, IL4, TNF
18
Show member pathways
8.1DMD, IL10, IL4, TNF

GO Terms for genes affiliated with Endomyocardial Fibrosis

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Biological processes related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1receptor biosynthetic processGO:00328009.8IL10, TNF
2negative regulation of cytokine secretion involved in immune responseGO:00027409.8IL10, TNF
3positive regulation of mononuclear cell migrationGO:00716779.6IL4, TNF
4positive regulation of chemokine biosynthetic processGO:00450809.6IL4, TNF
5regulation of isotype switchingGO:00451919.6IL10, IL4
6positive regulation of cytokine secretionGO:00507159.6IL10, TNF
7negative regulation of interleukin-6 productionGO:00327159.5IL10, TNF
8negative regulation of growth of symbiont in hostGO:00441309.5IL10, TNF
9negative regulation of endothelial cell apoptotic processGO:20003529.5IL10, IL4
10type 2 immune responseGO:00420929.4IL10, IL4
11negative regulation of nitric oxide biosynthetic processGO:00450199.4IL10, IL4
12positive regulation of MHC class II biosynthetic processGO:00453489.4IL10, IL4
13defense response to protozoanGO:00428329.3IL10, IL4
14B cell differentiationGO:00301838.9IL10, IL4
15positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.5IL10, IL4, TNF

Molecular functions related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051258.5IL10, IL4, TNF

Sources for Endomyocardial Fibrosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet