MCID: END021
MIFTS: 44

Endomyocardial Fibrosis malady

Rare diseases, Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Endomyocardial Fibrosis

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Aliases & Descriptions for Endomyocardial Fibrosis:

Name: Endomyocardial Fibrosis 10 45 47 12 65 36
Obscure African Cardiomyopathy 10 65
Emf 40 2
African Endomyocardial Fibrosis 10
 
Becker Muscular Dystrophy 65
Endomyocardial Sclerosis 10
Becker's Disease 10


Classifications:



External Ids:

Disease Ontology10 DOID:12932
MeSH36 D004719
ICD9CM29 425.0
NCIt42 C34585

Summaries for Endomyocardial Fibrosis

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Wikipedia:68 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 restrictive cardiomyopathy and myotonia congenita, recessive. An important gene associated with Endomyocardial Fibrosis is DMD (Dystrophin), and among its related pathways are IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types and Malaria. Affiliated tissues include heart, bone and bone marrow, and related mouse phenotypes are muscle and digestive/alimentary.

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 187)
idRelated DiseaseScoreTop Affiliating Genes
1restrictive cardiomyopathy30.5IL10, IL4, TNF
2myotonia congenita, recessive30.4CLCN1, DMD
3malaria30.3IL10, IL4, TNF
4myopathy30.1DMD, TNF
5colitis30.1IL10, IL4, TNF
6rheumatoid arthritis30.0IL10, IL4, TNF
7systemic lupus erythematosus29.9IL10, IL4, TNF
8tropical endomyocardial fibrosis10.8
9cardiomyopathy10.7
10eosinophilia10.6
11hypereosinophilic syndrome10.6
12endocarditis10.5
13pericardial effusion10.5
14churg-strauss syndrome10.5
15schistosomiasis10.4
16pulmonary hypertension10.4
17leukemia10.4
18filariasis10.4
19childhood leukemia10.3
20brain cancer10.3
21arthritis10.3
22ebstein anomaly10.3
23antiphospholipid syndrome10.3
24constrictive pericarditis10.3
25pericarditis10.3
26scleroderma10.2IL4, TNF
27microsporidiosis10.2IL4, TNF
28rasmussen johnsen thomsen syndrome10.1IL4, TNF
29alopecia universalis10.1IL4, TNF
30acute allergic serous otitis media10.1IL4, TNF
31punctate porokeratosis10.1IL10, TNF
32soft palate cancer10.1IL4, TNF
33neuroendocrine tumor10.1IL4, TNF
34microsomia hemifacial radial defects10.1IL10, TNF
35multifocal lymphangioendotheliomatosis with thrombocytopenia10.1IL10, TNF
36single ventricular heart10.1IL4, TNF
37sleeping sickness10.1IL10, TNF
38glycogen storage disease viii10.1IL10, TNF
39intermediate anorectal malformation10.1IL10, TNF
40budd-chiari syndrome10.1
41hepatocellular carcinoma10.1
42crohn's disease10.1
43dilated cardiomyopathy10.1
44hepatitis10.1
45ulcerative colitis10.1
46chagas disease10.1
47hypertrophic cardiomyopathy10.1
48sclerosing cholangitis10.1
49lung abscess10.1
50juvenile rheumatoid arthritis10.1

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



Diseases related to endomyocardial fibrosis

Symptoms for Endomyocardial Fibrosis

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Drugs & Therapeutics for Endomyocardial Fibrosis

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Blood SubstitutesPhase 3138
2Rho(D) Immune GlobulinPhase 3, Phase 1198
3Plasma SubstitutesPhase 3125
4Immunoglobulins, IntravenousPhase 3, Phase 1203
5
SpironolactoneapprovedPhase 21571952-01-7, 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
6MineralocorticoidsPhase 2294
7Radiopharmaceuticals345
8
Iodine4597553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
9cadexomer iodine425
103-Iodobenzylguanidine57

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
4The Genetic Basis of Acquired Heart Disease in AfricaRecruitingNCT02124109
5Assessment of Myocardial Fibrosis in Aortic STenosisRecruitingNCT02316587
6Left Atrial Volume Index in Asymptomatic Aortic StenosisRecruitingNCT02395107
7The Leiden Nonischemic Cardiomyopathy StudyRecruitingNCT01940081
8Noninvasive Imaging of Heart Failure: A Pilot StudyActive, not recruitingNCT01160471

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:

33
Heart, Bone, Bone marrow, Lung, Liver, Skeletal muscle, Brain

Animal Models for Endomyocardial Fibrosis or affiliated genes

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MGI Mouse Phenotypes related to Endomyocardial Fibrosis:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CLCN1, DMD, IL10, TNF
2MP:00053818.4DMD, IL10, IL4, TNF
3MP:00053708.4DMD, IL10, IL4, TNF
4MP:00053888.2DMD, IL10, IL4, TNF
5MP:00107718.1CLCN1, IL10, IL4, TNF
6MP:00053798.1DMD, IL10, IL4, TNF
7MP:00030127.9CLCN1, DMD, IL10, IL4, TNF
8MP:00053907.9CLCN1, DMD, IL10, IL4, TNF
9MP:00053917.8CLCN1, DMD, IL10, IL4, TNF
10MP:00053787.7CLCN1, DMD, IL10, IL4, TNF
11MP:00036317.5CLCN1, DMD, IL10, IL4, TNF
12MP:00053767.4CLCN1, DMD, IL10, IL4, TNF
13MP:00053897.2CLCN1, DMD, IL10, IL4, TNF

Publications for Endomyocardial Fibrosis

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Articles related to Endomyocardial Fibrosis:

(show top 50)    (show all 434)
idTitleAuthorsYear
1
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
2
Predominant RV endomyocardial fibrosis masking rheumatic mitral stenosis. (25438498)
2014
3
Endomyocardial fibrosis in patients with confirmed Churg-Strauss syndrome. (24158754)
2014
4
Usefulness of cardiac MRI in the early diagnosis of endomyocardial fibrosis. (22503434)
2012
5
Systemic thromboembolism in endomyocardial fibrosis (EMF): clinical observations, aetio-pathogenesis and treatment. (21416790)
2010
6
Searching for new clues about the molecular cause of endomyocardial fibrosis by way of in silico proteomics and analytical chemistry. (19823676)
2009
7
Endomyocardial fibrosis mimicking Ebstein's anomaly: a diagnostic challenge. (19568399)
2009
8
Neglected tropical cardiomyopathies: II. Endomyocardial fibrosis: myocardial disease. (18276824)
2008
9
Typical clinical aspect of endomyocardial fibrosis. (16257072)
2006
10
Pitfalls in diagnosis and clinical, echocardiographic, and hemodynamic findings in endomyocardial fibrosis: a 25-year experience. (16354870)
2005
11
Multiple microembolic borderzone brain infarctions and endomyocardial fibrosis in idiopathic hypereosinophilic syndrome and in Schistosoma mansoni infestation. (14742613)
2004
12
Endomyocardial fibrosis of right ventricle. (11163568)
2001
13
Endomyocardial fibrosis (Davies disease) coincidental with systemic lupus erythematosus. (10855412)
2000
14
Helminth associated hypereosinophilia and tropical endomyocardial fibrosis (EMF) in Nigeria. (9588233)
1998
15
Endomyocardial fibrosis in Zimbabwe--how rare is it? A report of two cases. (8997819)
1996
16
Right-sided endomyocardial fibrosis with recurrent pulmonary emboli leading to irreversible pulmonary hypertension. (1389768)
1992
17
Echocardiographic findings in endomyocardial fibrosis. (1509530)
1992
18
A geochemical basis for endomyocardial fibrosis. (2598218)
1989
19
Effectiveness of operative and nonoperative therapy in endomyocardial fibrosis. (2711999)
1989
20
Surgical treatment of endomyocardial fibrosis. (3800484)
1987
21
Unusual echocardiographic appearance of intracardiac thrombi in a patient with endomyocardial fibrosis. (3730220)
1986
22
Postoperative evaluation of endomyocardial fibrosis. (3955583)
1986
23
Serum immunoglobulins in patients with endomyocardial fibrosis. (3447948)
1986
24
Immunohistological studies in endomyocardial fibrosis. (6373573)
1984
25
Simulation of acute myopericarditis by constrictive pericardial disease with endomyocardial fibrosis due to methysergide therapy. (6736450)
1984
26
Phonomechanocardiographic findings in endomyocardial fibrosis. (6696288)
1984
27
Endomyocardial fibrosis in Thai children. (6491562)
1984
28
Surgical palliation for endomyocardial fibrosis. (6695359)
1984
29
Endomyocardial fibrosis with successful surgical treatment in a Hungarian woman. (6617211)
1983
30
Technical aspects in surgery for endomyocardial fibrosis: experience with 37 patients. (15227123)
1983
31
Coronary angiographic features in endomyocardial fibrosis. (6193879)
1983
32
M-mode echocardiographic features of endomyocardial fibrosis. (7104113)
1982
33
Echocardiographic findings in endomyocardial fibrosis. (7083941)
1982
34
Relation of severe eosinophilia and microfilariasis to chronic African endomyocardial fibrosis. (7259917)
1981
35
An unusual instance of mitral valve prolapse in endomyocardial fibrosis. (745154)
1978
36
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977
37
Endomyocardial fibrosis and eosinophilia. (849383)
1977
38
Eosinophilia and endomyocardial fibrosis. (1258775)
1976
39
Endomyocardial fibrosis. Problems in differential diagnosis. (131566)
1976
40
E.C.G. in endomyocardial fibrosis. (4425511)
1974
41
Morphogenesis of endomyocardial fibrosis. (4544107)
1973
42
Immunoglobulins and antibody to Loa loa in Nigerians with endomyocardial fibrosis and other heart diseases. (4625267)
1972
43
The electrocardiogram in endomyocardial fibrosis. (5160381)
1971
44
Endomyocardial fibrosis presenting as chronic pericardial effusion. (5678613)
1968
45
Endomyocardial fibrosis in a North American Negro. Probable familial incidence. (4175550)
1968
46
Necropsy study of endomyocardial fibrosis and rheumatic heart disease in Uganda 1950-1965. (5651254)
1968
47
Immunological studies in endomyocardial fibrosis and other forms of heart-disease in the tropics. (4163977)
1967
48
ADULT ENDOMYOCARDIAL FIBROSIS IN BRITAIN. (14044273)
1963
49
The evolution of endomyocardial fibrosis. (14480770)
1962
50
Intracardiac calcification in endomyocardial fibrosis. (13915097)
1962

Variations for Endomyocardial Fibrosis

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Clinvar genetic disease variations for Endomyocardial Fibrosis:

5 (show all 143)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
2DMDDMD, IVS19, A-C, +3single nucleotide variantPathogenic
3DMDDMD, IVS57, G-C, -1single nucleotide variantPathogenic
4DMDNM_004006.2(DMD): c.503C> A (p.Ala168Asp)single nucleotide variantPathogenicrs128626236GRCh37Chr X, 32834612: 32834612
5DMDDMD, IVS2, G-T, -1single nucleotide variantPathogenic
6DMDNM_004006.2(DMD): c.691T> A (p.Tyr231Asn)single nucleotide variantPathogenicrs128626237GRCh37Chr X, 32717369: 32717369
7DMDBMD, IVS13, G-T, -1single nucleotide variantPathogenic
8DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
9DMDNM_004006.2(DMD): c.8762A> G (p.His2921Arg)single nucleotide variantPathogenicrs1800279GRCh37Chr X, 31496398: 31496398
10DMDNM_004006.2(DMD): c.10262C> T (p.Ala3421Val)single nucleotide variantPathogenicrs104894791GRCh37Chr X, 31196049: 31196049
11DMDDMD, 1-BP DEL, 10683CdeletionPathogenic
12DMDNM_004006.2(DMD): c.3631G> T (p.Glu1211Ter)single nucleotide variantPathogenicrs267606771GRCh37Chr X, 32466728: 32466728
13DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
14DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)single nucleotide variantPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
15DMDNM_004006.2(DMD): c.9225-285A> Gsingle nucleotide variantPathogenicrs587776747GRCh37Chr X, 31279418: 31279418
16DMDDMD, IVS25, A-G, +2036single nucleotide variantPathogenic
17DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
18DMDNM_000109.3(DMD): c.1700T> C (p.Leu567Pro)single nucleotide variantPathogenicrs370644567GRCh37Chr X, 32591735: 32591735
19DMDNM_004006.2(DMD): c.1812+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs373286166GRCh37Chr X, 32591646: 32591646
20DMDNM_004006.2(DMD): c.9164-1G> Csingle nucleotide variantPathogenicrs398124082GRCh37Chr X, 31341776: 31341776
21DMDNM_004006.2(DMD): c.8680G> T (p.Glu2894Ter)single nucleotide variantPathogenicrs727503802GRCh37Chr X, 31496480: 31496480
22DMDNM_004006.2(DMD): c.5363C> G (p.Ser1788Ter)single nucleotide variantPathogenicrs199774535GRCh37Chr X, 32366608: 32366608
23DMDNM_004006.2(DMD): c.4806A> T (p.Gly1602=)single nucleotide variantPathogenicrs727503830GRCh37Chr X, 32398666: 32398666
24DMDNM_004006.2(DMD): c.3532G> T (p.Glu1178Ter)single nucleotide variantPathogenicrs727503836GRCh37Chr X, 32472850: 32472850
25DMDNM_004006.2(DMD): c.2956C> T (p.Gln986Ter)single nucleotide variantPathogenicrs727503844GRCh37Chr X, 32486821: 32486821
26DMDNM_004006.2(DMD): c.2755A> T (p.Lys919Ter)single nucleotide variantPathogenicrs727503850GRCh37Chr X, 32503084: 32503084
27DMDNM_004006.2(DMD): c.2484T> G (p.Tyr828Ter)single nucleotide variantPathogenicrs727503858GRCh37Chr X, 32509532: 32509532
28DMDNM_004006.2(DMD): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs727503864GRCh37Chr X, 32716064: 32716064
29DMDNM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs)indelPathogenicrs796065325GRCh37Chr X, 33229415: 33229416
30DMDNM_004006.2(DMD): c.1093C> T (p.Gln365Ter)single nucleotide variantPathogenicrs794726993GRCh37Chr X, 32663137: 32663137
31DMDNM_004006.2(DMD): c.1070delC (p.Ser357Leufs)deletionPathogenicrs794726994GRCh37Chr X, 32663160: 32663160
32DMDNM_004006.2(DMD): c.1286C> G (p.Ser429Ter)single nucleotide variantPathogenicrs398123853GRCh37Chr X, 32662294: 32662294
33DMDNM_004006.2(DMD): c.1150-2A> Gsingle nucleotide variantPathogenicrs794727030GRCh37Chr X, 32662432: 32662432
34DMDNM_004006.2(DMD): c.1533_1536delTCAC (p.His512Trpfs)deletionPathogenicrs794727097GRCh37Chr X, 32613940: 32613943
35DMDNM_004006.2(DMD): c.1704+1G> Asingle nucleotide variantPathogenicrs794727123GRCh37Chr X, 32591861: 32591861
36DMDNM_004006.2(DMD): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs794727170GRCh37Chr X, 32583899: 32583899
37DMDNM_004006.2(DMD): c.2601_2602delAA (p.Gln869Valfs)deletionPathogenicrs794727322GRCh37Chr X, 32509414: 32509415
38DMDNM_004006.2(DMD): c.2803+1G> Csingle nucleotide variantPathogenicrs398123908GRCh37Chr X, 32503035: 32503035
39DMDNM_004006.2(DMD): c.2804-2A> Tsingle nucleotide variantPathogenicrs794727357GRCh37Chr X, 32490428: 32490428
40DMDNM_004006.2(DMD): c.2815_2816delTT (p.Leu939Alafs)deletionPathogenicrs794727358GRCh38Chr X, 32472297: 32472298
41DMDNM_004006.2(DMD): c.2933_2934delGA (p.Arg978Thrfs)deletionPathogenicrs794727359GRCh37Chr X, 32490296: 32490297
42DMDNM_004006.2(DMD): c.3497_3500delTATC (p.Leu1166Glnfs)deletionPathogenicrs794727421GRCh37Chr X, 32472882: 32472885
43DMDNM_004006.2(DMD): c.3535G> T (p.Glu1179Ter)single nucleotide variantPathogenicrs794727422GRCh37Chr X, 32472847: 32472847
44DMDNM_004006.2(DMD): c.3838A> T (p.Lys1280Ter)single nucleotide variantPathogenicrs794727463GRCh37Chr X, 32459380: 32459380
45DMDNM_004006.2(DMD): c.133C> T (p.Gln45Ter)single nucleotide variantPathogenicrs794727499GRCh37Chr X, 32867898: 32867898
46DMDNM_004006.2(DMD): c.4315A> T (p.Arg1439Ter)single nucleotide variantPathogenicrs794727550GRCh37Chr X, 32408217: 32408217
47DMDNM_004006.2(DMD): c.4523delT (p.Leu1508Cysfs)deletionPathogenicrs794727567GRCh37Chr X, 32404578: 32404578
48DMDNM_004006.2(DMD): c.4675-2A> Gsingle nucleotide variantPathogenicrs794727575GRCh37Chr X, 32398799: 32398799
49DMDNM_004006.2(DMD): c.5697delA (p.Lys1899Asnfs)deletionPathogenicrs794727661GRCh38Chr X, 32343176: 32343176
50DMDNM_004006.2(DMD): c.6238delC (p.Gln2080Serfs)deletionPathogenicrs794727672GRCh37Chr X, 32305698: 32305698
51DMDNM_004006.2(DMD): c.6673_6674insGTTT (p.Leu2225Cysfs)insertionPathogenicrs797044743GRCh37Chr X, 31950285: 31950286
52DMDNM_004006.2(DMD): c.6982A> T (p.Lys2328Ter)single nucleotide variantPathogenicrs754896795GRCh38Chr X, 31875304: 31875304
53DMDNM_004006.2(DMD): c.291dupT (p.Asp98Terfs)duplicationPathogenicrs797044756GRCh38Chr X, 32823361: 32823361
54DMDNM_004006.2(DMD): c.7247dupT (p.Leu2416Phefs)duplicationPathogenicrs797044764GRCh37Chr X, 31838154: 31838154
55DMDNM_004006.2(DMD): c.7295_7296delCC (p.Thr2432Asnfs)deletionPathogenicrs794727746GRCh37Chr X, 31838105: 31838106
56DMDNM_004006.2(DMD): c.7444delC (p.Thr2483Profs)deletionPathogenicrs794727749GRCh37Chr X, 31792175: 31792175
57DMDNM_004006.2(DMD): c.8184delC (p.Lys2729Argfs)deletionPathogenicrs794727763GRCh37Chr X, 31645823: 31645823
58DMDNM_004006.2(DMD): c.8656C> T (p.Gln2886Ter)single nucleotide variantPathogenicrs201361100GRCh37Chr X, 31497112: 31497112
59DMDNM_004006.2(DMD): c.8669-2A> Csingle nucleotide variantPathogenicrs794727770GRCh37Chr X, 31496493: 31496493
60DMDNM_004006.2(DMD): c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs)deletionPathogenicrs794727795GRCh37Chr X, 32834687: 32834700
61DMDNM_004006.2(DMD): c.9216C> G (p.Tyr3072Ter)single nucleotide variantPathogenicrs794727820GRCh37Chr X, 31341723: 31341723
62DMDNM_004006.2(DMD): c.9978C> G (p.Tyr3326Ter)single nucleotide variantPathogenicrs794727832GRCh37Chr X, 31198595: 31198595
63DMDNM_004006.2(DMD): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs794727861GRCh37Chr X, 32827694: 32827694
64DMDNM_004006.2(DMD): c.547dupT (p.Trp183Leufs)duplicationPathogenicrs796065333GRCh38Chr X, 32809595: 32809595
65DMDNM_004006.2(DMD): c.627delA (p.Ile209Metfs)deletionPathogenicrs794727862GRCh37Chr X, 32827632: 32827632
66DMDNM_004006.2(DMD): c.10554-2A> Gsingle nucleotide variantPathogenicrs794727890GRCh37Chr X, 31165637: 31165637
67DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421
68DMDNM_004006.2(DMD): c.10033C> T (p.Arg3345Ter)single nucleotide variantPathogenicrs398123827GRCh37Chr X, 31198540: 31198540
69DMDNM_004006.2(DMD): c.10086+1G> Asingle nucleotide variantPathogenicrs398123828GRCh37Chr X, 31198486: 31198486
70DMDNM_004006.2(DMD): c.1012G> T (p.Glu338Ter)single nucleotide variantPathogenicrs398123830GRCh37Chr X, 32663218: 32663218
71DMDNM_004006.2(DMD): c.10171C> T (p.Arg3391Ter)single nucleotide variantPathogenicrs398123832GRCh37Chr X, 31196838: 31196838
72DMDNM_004019.2(DMD): c.1020G> A (p.Thr340=)single nucleotide variantPathogenicrs398123834GRCh37Chr X, 31196785: 31196785
73DMDNM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs)deletionPathogenicrs398123837GRCh37Chr X, 31187666: 31187667
74DMDNM_004006.2(DMD): c.1048G> T (p.Glu350Ter)single nucleotide variantPathogenicrs398123840GRCh37Chr X, 32663182: 32663182
75DMDNM_004006.2(DMD): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs398123852GRCh37Chr X, 32662319: 32662319
76DMDNM_004006.2(DMD): c.1306dupG (p.Val436Glyfs)duplicationPathogenicrs398123854GRCh37Chr X, 32662274: 32662274
77DMDNM_004006.2(DMD): c.1332-9A> Gsingle nucleotide variantPathogenicrs72468700GRCh37Chr X, 32632579: 32632579
78DMDNM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs)duplicationPathogenicrs398123856GRCh37Chr X, 32632560: 32632561
79DMDNM_004006.2(DMD): c.1371delG (p.Glu459Serfs)deletionPathogenicrs398123857GRCh37Chr X, 32632531: 32632531
80DMDNM_004006.2(DMD): c.1465C> T (p.Gln489Ter)single nucleotide variantPathogenicrs398123861GRCh37Chr X, 32632437: 32632437
81DMDNM_004006.2(DMD): c.1482+1G> Tsingle nucleotide variantPathogenicrs398123862GRCh37Chr X, 32632419: 32632419
82DMDNM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs)deletionPathogenicrs398123863GRCh37Chr X, 32613946: 32613947
83DMDNM_004006.2(DMD): c.1615C> T (p.Arg539Ter)single nucleotide variantPathogenicrs398123865GRCh37Chr X, 32591951: 32591951
84DMDNM_004006.2(DMD): c.1886C> A (p.Ser629Ter)single nucleotide variantPathogenicrs398123867GRCh37Chr X, 32583925: 32583925
85DMDNM_004006.2(DMD): c.1990C> T (p.Gln664Ter)single nucleotide variantPathogenicrs398123870GRCh37Chr X, 32583821: 32583821
86DMDNM_004006.2(DMD): c.2032C> T (p.Gln678Ter)single nucleotide variantPathogenicrs398123872GRCh37Chr X, 32563412: 32563412
87DMDNM_004006.2(DMD): c.2125delC (p.Gln709Lysfs)deletionPathogenicrs398123875GRCh37Chr X, 32563319: 32563319
88DMDNM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs)deletionPathogenicrs398123882GRCh37Chr X, 32519955: 32519958
89DMDNM_004006.2(DMD): c.2332C> T (p.Gln778Ter)single nucleotide variantPathogenicrs398123883GRCh37Chr X, 32519920: 32519920
90DMDNM_004006.2(DMD): c.2380+1G> Csingle nucleotide variantPathogenicrs398123884GRCh37Chr X, 32519871: 32519871
91DMDNM_004006.2(DMD): c.2381-1G> Tsingle nucleotide variantPathogenicrs398123887GRCh37Chr X, 32509636: 32509636
92DMDNM_004006.2(DMD): c.2419C> T (p.Gln807Ter)single nucleotide variantPathogenicrs398123888GRCh37Chr X, 32509597: 32509597
93DMDNM_004006.2(DMD): c.2547delT (p.Glu850Lysfs)deletionPathogenicrs398123895GRCh37Chr X, 32509469: 32509469
94DMDNM_004006.2(DMD): c.2650C> T (p.Gln884Ter)single nucleotide variantPathogenicrs398123903GRCh37Chr X, 32503189: 32503189
95DMDNM_004006.2(DMD): c.2804-1G> Asingle nucleotide variantPathogenicrs398123909GRCh37Chr X, 32490427: 32490427
96DMDNM_004006.2(DMD): c.2816T> A (p.Leu939Ter)single nucleotide variantPathogenicrs398123910GRCh37Chr X, 32490414: 32490414
97DMDNM_004006.2(DMD): c.28delT (p.Cys10Valfs)deletionPathogenicrs398123913GRCh37Chr X, 33229402: 33229402
98DMDNM_004006.2(DMD): c.31+1G> Tsingle nucleotide variantPathogenicrs398123923GRCh37Chr X, 33229398: 33229398
99DMDNM_004006.2(DMD): c.3276+1G> Asingle nucleotide variantPathogenicrs398123934GRCh37Chr X, 32482702: 32482702
100DMDNM_004006.2(DMD): c.3295C> T (p.Gln1099Ter)single nucleotide variantPathogenicrs398123935GRCh37Chr X, 32481693: 32481693
101DMDNM_004006.2(DMD): c.336G> A (p.Trp112Ter)single nucleotide variantPathogenicrs398123936GRCh37Chr X, 32841433: 32841433
102DMDNM_004006.2(DMD): c.3432+1G> Asingle nucleotide variantPathogenicrs398123937GRCh37Chr X, 32481555: 32481555
103DMDNM_004006.2(DMD): c.3580C> T (p.Gln1194Ter)single nucleotide variantPathogenicrs398123942GRCh37Chr X, 32472802: 32472802
104DMDNM_004006.2(DMD): c.3603+2T> Asingle nucleotide variantPathogenicrs146071084GRCh37Chr X, 32472777: 32472777
105DMDNM_004006.2(DMD): c.3639dupA (p.Val1214Serfs)duplicationPathogenicrs398123943GRCh37Chr X, 32466720: 32466720
106DMDNM_004006.2(DMD): c.3747delG (p.Trp1249Cysfs)deletionPathogenicrs398123945GRCh37Chr X, 32466612: 32466612
107DMDNM_004006.2(DMD): c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)indelPathogenicrs398123946GRCh37Chr X, 32466574: 32466580
108DMDNM_004006.2(DMD): c.4117C> T (p.Gln1373Ter)single nucleotide variantPathogenicrs398123948GRCh37Chr X, 32429985: 32429985
109DMDNM_004006.2(DMD): c.412_413delAA (p.Lys138Aspfs)deletionPathogenicrs398123949GRCh37Chr X, 32834702: 32834703
110DMDNM_004006.2(DMD): c.4471_4472delAA (p.Lys1491Glufs)deletionPathogenicrs398123957GRCh37Chr X, 32407664: 32407665
111DMDNM_004006.2(DMD): c.4534_4535delCT (p.Leu1512Glufs)deletionPathogenicrs398123961GRCh37Chr X, 32404566: 32404567
112DMDNM_004006.2(DMD): c.4545_4549delGAAGT (p.Lys1516Terfs)deletionPathogenicrs398123962GRCh37Chr X, 32404552: 32404556
113DMDNM_004006.2(DMD): c.5124_5127delGAAA (p.Lys1708Asnfs)deletionPathogenicrs398123979GRCh37Chr X, 32382726: 32382729
114DMDNM_004006.2(DMD): c.5287C> T (p.Arg1763Ter)single nucleotide variantPathogenicrs398123981GRCh37Chr X, 32380943: 32380943
115DMDNM_004006.2(DMD): c.5530C> T (p.Arg1844Ter)single nucleotide variantPathogenicrs1064325GRCh37Chr X, 32364116: 32364116
116DMDNM_004006.2(DMD): c.5640T> A (p.Tyr1880Ter)single nucleotide variantPathogenicrs398123993GRCh37Chr X, 32361350: 32361350
117DMDNM_004006.2(DMD): c.583C> T (p.Arg195Ter)single nucleotide variantPathogenicrs398123999GRCh37Chr X, 32827676: 32827676
118DMDNM_004006.2(DMD): c.5938G> T (p.Glu1980Ter)single nucleotide variantPathogenicrs398124001GRCh37Chr X, 32328378: 32328378
119DMDNM_004006.2(DMD): c.6000T> A (p.Tyr2000Ter)single nucleotide variantPathogenicrs398124002GRCh37Chr X, 32328316: 32328316
120DMDNM_004006.2(DMD): c.6072T> A (p.Cys2024Ter)single nucleotide variantPathogenicrs373804251GRCh37Chr X, 32328244: 32328244
121DMDNM_004006.2(DMD): c.615T> A (p.Tyr205Ter)single nucleotide variantPathogenicrs398124004GRCh37Chr X, 32827644: 32827644
122DMDNM_004006.2(DMD): c.6182delC (p.Ala2061Glufs)deletionPathogenicrs398124005GRCh37Chr X, 32305754: 32305754
123DMDNM_004006.2(DMD): c.649+1G> Asingle nucleotide variantPathogenicrs398124032GRCh37Chr X, 32827609: 32827609
124DMDNM_004006.2(DMD): c.6906G> A (p.Trp2302Ter)single nucleotide variantPathogenicrs398124036GRCh37Chr X, 31947719: 31947719
125DMDNM_004006.2(DMD): c.7189C> T (p.Gln2397Ter)single nucleotide variantPathogenicrs398124042GRCh37Chr X, 31854846: 31854846
126DMDNM_004006.2(DMD): c.7309+1G> Asingle nucleotide variantPathogenicrs398124044GRCh37Chr X, 31838091: 31838091
127DMDNM_004006.2(DMD): c.7657C> T (p.Arg2553Ter)single nucleotide variantPathogenicrs398124050GRCh37Chr X, 31747751: 31747751
128DMDNM_004006.2(DMD): c.7682G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124052GRCh37Chr X, 31697682: 31697682
129DMDNM_004006.2(DMD): c.7683G> A (p.Trp2561Ter)single nucleotide variantPathogenicrs398124053GRCh37Chr X, 31697681: 31697681
130DMDNM_004006.2(DMD): c.7894C> T (p.Gln2632Ter)single nucleotide variantPathogenicrs398124058GRCh37Chr X, 31676240: 31676240
131DMDNM_004006.2(DMD): c.8064_8065delTA (p.His2688Glnfs)deletionPathogenicrs398124060GRCh37Chr X, 31645942: 31645943
132DMDNM_004006.2(DMD): c.8374_8375delAA (p.Lys2792Valfs)deletionPathogenicrs398124070GRCh37Chr X, 31525413: 31525414
133DMDNM_004006.2(DMD): c.8608C> T (p.Arg2870Ter)single nucleotide variantPathogenicrs398124074GRCh37Chr X, 31497160: 31497160
134DMDNM_004006.2(DMD): c.8652_8653delCT (p.Tyr2885Profs)deletionPathogenicrs398124075GRCh37Chr X, 31497115: 31497116
135DMDNM_004006.2(DMD): c.8912_8913delTC (p.Leu2971Profs)deletionPathogenicrs398124078GRCh37Chr X, 31496247: 31496248
136DMDNM_004006.2(DMD): c.9125delA (p.His3042Profs)deletionPathogenicrs398124080GRCh37Chr X, 31366711: 31366711
137DMDNM_004006.2(DMD): c.9225-647A> Gsingle nucleotide variantPathogenicrs398124091GRCh37Chr X, 31279780: 31279780
138DMDNM_004006.2(DMD): c.9337C> T (p.Arg3113Ter)single nucleotide variantPathogenicrs398124092GRCh37Chr X, 31241188: 31241188
139DMDNM_004006.2(DMD): c.9361+1G> Asingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
140DMDNM_004006.2(DMD): c.9361+1G> Csingle nucleotide variantPathogenicrs398124094GRCh37Chr X, 31241163: 31241163
141DMDNM_004006.2(DMD): c.9564-1G> Asingle nucleotide variantPathogenicrs398124096GRCh37Chr X, 31224785: 31224785
142DMDNM_004006.2(DMD): c.9650-2A> Gsingle nucleotide variantPathogenicrs398124100GRCh37Chr X, 31222237: 31222237
143DMDNM_004006.2(DMD): c.9862G> T (p.Glu3288Ter)single nucleotide variantPathogenicrs398124106GRCh37Chr X, 31200967: 31200967

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 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3IL10, TNF
29.3IL10, TNF
39.3IL10, TNF
4
Show member pathways
9.3IL10, TNF
59.3IL10, TNF
69.3IL10, TNF
79.1IL10, IL4
89.1IL10, IL4
99.0IL4, TNF
10
Show member pathways
9.0IL4, TNF
11
Show member pathways
8.5IL10, IL4, TNF
12
Show member pathways
8.5IL10, IL4, TNF
13
B cell receptor signaling pathway (KEGG)
Show member pathways
8.5IL10, IL4, TNF
148.5IL10, IL4, TNF
158.5IL10, IL4, TNF
16
Show member pathways
8.1DMD, IL10, IL4, TNF

GO Terms for genes affiliated with Endomyocardial Fibrosis

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Cellular components related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.5CLCN1, DMD

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1receptor biosynthetic processGO:003280010.0IL10, TNF
2negative regulation of cytokine secretion involved in immune responseGO:00027409.9IL10, TNF
3positive regulation of cytokine secretionGO:00507159.8IL10, TNF
4type 2 immune responseGO:00420929.8IL10, IL4
5negative regulation of interleukin-6 productionGO:00327159.7IL10, TNF
6positive regulation of MHC class II biosynthetic processGO:00453489.7IL10, IL4
7regulation of isotype switchingGO:00451919.7IL10, IL4
8negative regulation of endothelial cell apoptotic processGO:20003529.7IL10, IL4
9positive regulation of mononuclear cell migrationGO:00716779.7IL4, TNF
10negative regulation of growth of symbiont in hostGO:00441309.7IL10, TNF
11positive regulation of chemokine biosynthetic processGO:00450809.6IL4, TNF
12response to glucocorticoidGO:00513849.6IL10, TNF
13negative regulation of nitric oxide biosynthetic processGO:00450199.6IL10, IL4
14defense response to protozoanGO:00428329.5IL10, IL4
15B cell differentiationGO:00301839.5IL10, IL4
16positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.9IL10, IL4, TNF
17positive regulation of transcription, DNA-templatedGO:00458938.5IL10, IL4, TNF
18immune responseGO:00069558.2IL10, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet