MCID: END021
MIFTS: 51

Endomyocardial Fibrosis

Categories: Rare diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Endomyocardial Fibrosis

MalaCards integrated aliases for Endomyocardial Fibrosis:

Name: Endomyocardial Fibrosis 12 72 49 51 41 14 69
Obscure African Cardiomyopathy 12 69
Emf 44 3
African Endomyocardial Fibrosis 12
Becker Muscular Dystrophy 69
Endomyocardial Sclerosis 12
Becker's Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12932
ICD9CM 34 425.0
MeSH 41 D004719
NCIt 46 C34585

Summaries for Endomyocardial Fibrosis

CDC : 3 NIOSH research on protecting workers from proven and possible EMF health risks focuses on:

MalaCards based summary : Endomyocardial Fibrosis, also known as obscure african cardiomyopathy, is related to tropical endomyocardial fibrosis and churg-strauss syndrome, and has symptoms including weakness An important gene associated with Endomyocardial Fibrosis is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. The drugs Spironolactone and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and bone marrow, and related phenotypes are integument and craniofacial

Wikipedia : 72 The hypereosinophilic syndrome (HES) is a disease characterized by a persistently elevated eosinophil... more...

Related Diseases for Endomyocardial Fibrosis

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

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 tropical endomyocardial fibrosis 33.3 IL10 IL4 TNF
2 churg-strauss syndrome 30.4 IL10 TNF
3 endocarditis 30.4 IL10 TNF
4 filariasis 30.2 IL10 TNF
5 hypereosinophilic syndrome, idiopathic 30.1 FIP1L1 PDGFRA
6 schistosomiasis 30.1 IL10 IL4 TNF
7 rheumatic heart disease 29.9 IL10 IL4 TNF
8 loeffler endocarditis 29.6 FIP1L1 PDGFRA
9 peritonitis 29.5 IL10 TNF
10 parasitic helminthiasis infectious disease 29.5 IL10 IL4 TNF
11 chronic eosinophilic leukemia 29.5 FIP1L1 PDGFRA
12 trypanosomiasis 29.5 IL10 IL4 TNF
13 colitis 29.5 IL10 IL4 TNF
14 budd-chiari syndrome 29.4 FIP1L1 PDGFRA
15 myotonia congenita, autosomal recessive 11.3
16 fibrosis of extraocular muscles, congenital, 1 11.0
17 fanconi renotubular syndrome 1 10.9
18 scleritis 10.3 IL4 TNF
19 microscopic colitis 10.3 IL4 TNF
20 lichen disease 10.3 IL4 TNF
21 hyperlucent lung 10.3 IL10 IL4
22 rasmussen encephalitis 10.3 IL4 TNF
23 immunoglobulin a deficiency 1 10.3 IL10 IL4
24 keratoconjunctivitis sicca 10.3 IL4 TNF
25 retinitis pigmentosa 22 10.3 IL10 IL4
26 baylisascariasis 10.3 IL10 IL4
27 apple allergy 10.3 IL10 IL4
28 beta-lactam allergy 10.3 IL10 IL4
29 buruli ulcer 10.3 IL10 IL4
30 punctate inner choroidopathy 10.3 IL10 TNF
31 bardet-biedl syndrome 15 10.3 IL10 IL4
32 genital herpes 10.3 IL10 IL4
33 microscopic polyangiitis 10.2 IL10 TNF
34 multifocal choroiditis 10.2 IL10 TNF
35 heart disease 10.2
36 hypereosinophilic syndrome 10.2
37 milk allergy 10.2 IL10 IL4
38 transient hypogammaglobulinemia 10.2 IL10 TNF
39 choroiditis 10.2 IL10 TNF
40 tonsillitis 10.2 IL4 TNF
41 mucocutaneous leishmaniasis 10.2 IL10 TNF
42 idiopathic achalasia 10.2 IL10 TNF
43 trichuriasis 10.2 IL10 TNF
44 paranasal sinus disease 10.2 IL10 IL4
45 clonorchiasis 10.2 IL10 TNF
46 neuritis 10.2 IL4 TNF
47 trachoma 10.2 IL10 TNF
48 listeriosis 10.2 IL10 TNF
49 transverse myelitis 10.2 IL10 TNF
50 nasal cavity disease 10.2 IL10 IL4

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


Acute Cystitis Familial Atrial Fibrillation
Heart Disease Ischemic Heart Disease

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



Diseases related to Endomyocardial Fibrosis

Symptoms & Phenotypes for Endomyocardial Fibrosis

UMLS symptoms related to Endomyocardial Fibrosis:


weakness

MGI Mouse Phenotypes related to Endomyocardial Fibrosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.65 CLCN1 IL10 IL4 PDGFRA TNF
2 craniofacial MP:0005382 9.62 IL10 IL4 PDGFRA TNF
3 no phenotypic analysis MP:0003012 9.55 CLCN1 IL10 IL4 PDGFRA TNF
4 reproductive system MP:0005389 9.35 IL4 PDGFRA TNF CLCN1 IL10
5 skeleton MP:0005390 9.02 CLCN1 IL10 IL4 PDGFRA TNF

Drugs & Therapeutics for Endomyocardial Fibrosis

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
2 diuretics Phase 2
3 Diuretics, Potassium Sparing Phase 2
4 Hormone Antagonists Phase 2
5 Hormones Phase 2
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
7 Mineralocorticoid Receptor Antagonists Phase 2
8 Mineralocorticoids Phase 2
9 Natriuretic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spironolactone in Adult Congenital Heart Disease Completed NCT01069510 Phase 2 Spironolactone
2 Assessment of Myocardial Fibrosis in Aortic STenosis Completed NCT02316587
3 Left Atrial Volume Index in Asymptomatic Aortic Stenosis Completed NCT02395107
4 The Genetic Basis of Acquired Heart Disease in Africa Recruiting NCT02124109

Search NIH Clinical Center for Endomyocardial Fibrosis

Cochrane evidence based reviews: endomyocardial fibrosis

Genetic Tests for Endomyocardial Fibrosis

Anatomical Context for Endomyocardial Fibrosis

MalaCards organs/tissues related to Endomyocardial Fibrosis:

38
Heart, Bone, Bone Marrow, Skin, Testes, Lung, Skeletal Muscle

Publications for Endomyocardial Fibrosis

Articles related to Endomyocardial Fibrosis:

(show top 50) (show all 476)
# Title Authors Year
1
Both left ventricular papillary muscles necrosis, an eosinophylic lymphoblastic leukemia revealed by endomyocardial fibrosis. ( 29366603 )
2018
2
Endomyocardial fibrosis in a context of peritonitis. ( 28977410 )
2017
3
Diagnosis and Management of Endomyocardial Fibrosis. ( 27886792 )
2017
4
Loeffler Endocarditis: A Unique Presentation of Right-Sided Heart Failure Due to Eosinophil-Induced Endomyocardial Fibrosis. ( 28890659 )
2017
5
Endomyocardial Fibrosis: A Rare Case of Diastolic Heart Failure in a European Caucasian Elderly Woman. ( 28818409 )
2017
6
Endomyocardial fibrosis. ( 29043203 )
2017
7
Characterization of Cardiopulmonary Exercise Testing Variables in Patients with Endomyocardial Fibrosis after Endocardial Resection. ( 29364349 )
2017
8
Progressive mitral regurgitation in a patient with tropical endomyocardial fibrosis. ( 28582525 )
2017
9
LAPffler Endocarditis and Endomyocardial Fibrosis. ( 28846127 )
2017
10
Endomyocardial fibrosis in Sudan: clinical and echocardiographic features. ( 28906536 )
2017
11
Ventricular endomyocardial fibrosis in a pregnant female with BehAset's disease. ( 28068787 )
2017
12
The key clues to reach the diagnosis of Loeffler endomyocardial fibrosis associated with eosinophilic granulomatosis with polyangiitis. ( 28072629 )
2017
13
Severe Left Ventricular Endomyocardial Fibrosis Presenting as Biventricular Failure in a Young Adult: A Case Report. ( 28050425 )
2016
14
Idiopathic Hypereosinophilic Syndrome Associated with Endomyocardial Fibrosis, Intracardiac Thrombi, Pulmonary and Skin Infiltration: A Case Report. ( 27617583 )
2016
15
Response by Grimaldi et al to Letter Regarding Article, "Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives". ( 27881500 )
2016
16
Endomyocardial fibrosis with right ventricular aneurysm mimicking ARVC - A case report from India. ( 27751343 )
2016
17
Rare association of endomyocardial fibrosis and Chagas heart disease. ( 28031230 )
2016
18
Endomyocardial Fibrosis Associated With Apical Calcification and High Uptake on Myocardial Gallium-67 Scintigraphy. ( 27477847 )
2016
19
Bundle branch reentry: A rare mechanism of ventricular tachycardia in endomyocardial fibrosis, without ventricular dilation. ( 27751288 )
2016
20
Endomyocardial fibrosis: missing tricuspid valve and Fontan-like circulation. ( 26747439 )
2016
21
Coexistence of apical hypertrophic cardiomyopathy and endomyocardial fibrosis with calcification: diagnosis using multimodality imaging. ( 27867529 )
2016
22
A Challenging Differential Diagnosis: Distinguishing between Endomyocardial Fibrosis and Apical Hypertrophic Cardiomyopathy. ( 27144839 )
2016
23
Active schistosomiasis, severe hypereosinophilia and rapid progression of chronic endomyocardial fibrosis. ( 27805245 )
2016
24
Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives. ( 27297343 )
2016
25
A Rare Case of Mitral Valve Prolapse in Endomyocardial Fibrosis. ( 27549547 )
2016
26
Letter by Kothari Regarding Article, "Tropical Endomyocardial Fibrosis: Natural History, Challenges, and Perspectives". ( 27881499 )
2016
27
A case of biventricular endomyocardial fibrosis complicated by right ventricular outflow tract aneurysms. ( 27245722 )
2016
28
Doughnut appearance of left ventricle in isolated left ventricular endomyocardial fibrosis. ( 27751273 )
2016
29
Unusual endomyocardial fibrosis with apical calcification. ( 26066548 )
2015
30
The safety and efficacy of prednisolone in preventing reaccumulation of ascites among endomyocardial fibrosis patients in Uganda: a randomized clinical trial. ( 26666319 )
2015
31
Left ventricular calcification in a patient with endomyocardial fibrosis. ( 26626444 )
2015
32
Isolated Severe Right Ventricle Endomyocardial Fibrosis in a Child: Vanishing Tropical Disease Revisited. ( 26578670 )
2015
33
Successful Heart Transplantation for Unreversible Endomyocardial Fibrosis Related to FIP1L1-PDGFRA Chronic Eosinophilic Leukemia. ( 26492057 )
2015
34
Case 3/2015 - 53-Year-Old Female with Cardiogenic Shock 12 Years after Surgical Correction of Endomyocardial Fibrosis. ( 26466072 )
2015
35
Cardiac MRI findings of endomyocardial fibrosis (Loeffler's endocarditis) in a patient with rheumatoid arthritis. ( 25870507 )
2015
36
Endomyocardial fibrosis and mural thrombus in a 4-year-old girl due to idiopathic hypereosinophilia syndrome described with serial cardiac magnetic resonance imaging. ( 25683059 )
2015
37
Endomyocardial fibrosis in Sub Saharan Africa: The geographical origin, socioeconomic status, and dietary habits of cases reported in Yaounde, Cameroon. ( 26556966 )
2015
38
Non-tropical endomyocardial fibrosis: A rare cause of bi-apical filling. ( 26456913 )
2015
39
Reversible Severe Eosinophilic Endomyocardial Fibrosis During Pregnancy: A Case Report. ( 26266372 )
2015
40
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. ( 25582942 )
2015
41
Genetic susceptibility to endomyocardial fibrosis. ( 25780800 )
2014
42
Endomyocardial fibrosis in northern nigerian girl. ( 25031912 )
2014
43
Forme fruste of isolated right ventricular endomyocardial fibrosis: a case report. ( 24612874 )
2014
44
Predominant RV endomyocardial fibrosis masking rheumatic mitral stenosis. ( 25508015 )
2014
45
Predominant RV endomyocardial fibrosis masking rheumatic mitral stenosis. ( 25438498 )
2014
46
Cardiac magnetic resonance imaging for the diagnosis of endomyocardial fibrosis. ( 25417517 )
2014
47
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. ( 24533554 )
2014
48
How to recognize endomyocardial fibrosis? ( 25050531 )
2014
49
Endomyocardial fibrosis (EMF) in a Ugandan child with advanced hepatosplenic schistosomiasis: coincidence or connection? ( 25002295 )
2014
50
Massive Left Ventricular Calcification: Related to Endomyocardial Fibrosis or Idiopathic? Response. ( 24411979 )
2014

Variations for Endomyocardial Fibrosis

Expression for Endomyocardial Fibrosis

Search GEO for disease gene expression data for Endomyocardial Fibrosis.

Pathways for Endomyocardial Fibrosis

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 IL10 IL4 PDGFRA TNF
2
Show member pathways
12.99 IL10 IL4 PDGFRA TNF
3
Show member pathways
12.45 IL10 IL4 PDGFRA TNF
4
Show member pathways
12.36 IL10 IL4 TNF
5
Show member pathways
12.32 IL10 IL4 TNF
6
Show member pathways
12.31 IL10 PDGFRA TNF
7 12.27 IL10 IL4 TNF
8
Show member pathways
12.12 IL10 IL4 TNF
9
Show member pathways
12.03 IL10 IL4 PDGFRA
10
Show member pathways
11.96 IL10 IL4 TNF
11
Show member pathways
11.82 IL10 IL4 TNF
12 11.61 IL10 IL4 TNF
13 11.55 IL10 IL4 TNF
14 11.52 IL10 TNF
15 11.44 IL10 IL4
16 11.43 IL4 TNF
17 11.34 IL10 IL4 TNF
18 11.32 PDGFRA TNF
19 11.3 IL10 TNF
20 11.25 IL10 IL4
21 11.15 IL10 IL4 TNF
22
Show member pathways
11.13 IL10 TNF
23 11.11 IL10 TNF
24 11.1 IL10 TNF
25 11.05 IL4 TNF
26 10.94 IL10 IL4
27 10.9 IL10 IL4 TNF
28 10.82 IL10 IL4 TNF
29 10.66 IL10 IL4 PDGFRA TNF
30 10.28 IL10 IL4 TNF

GO Terms for Endomyocardial Fibrosis

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.73 IL10 IL4 TNF
2 B cell differentiation GO:0030183 9.55 IL10 IL4
3 response to glucocorticoid GO:0051384 9.54 IL10 TNF
4 negative regulation of mitotic cell cycle GO:0045930 9.52 IL10 TNF
5 negative regulation of endothelial cell apoptotic process GO:2000352 9.51 IL10 IL4
6 positive regulation of cytokine secretion GO:0050715 9.49 IL10 TNF
7 negative regulation of interleukin-6 production GO:0032715 9.48 IL10 TNF
8 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.46 IL10 TNF
9 negative regulation of growth of symbiont in host GO:0044130 9.43 IL10 TNF
10 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.4 IL10 TNF
11 endothelial cell apoptotic process GO:0072577 9.37 IL10 TNF
12 positive regulation of MHC class II biosynthetic process GO:0045348 9.32 IL10 IL4
13 negative regulation of cytokine secretion involved in immune response GO:0002740 9.26 IL10 TNF
14 type 2 immune response GO:0042092 9.16 IL10 IL4
15 regulation of isotype switching GO:0045191 8.96 IL10 IL4
16 receptor biosynthetic process GO:0032800 8.62 IL10 TNF

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 IL10 IL4 TNF

Sources for Endomyocardial Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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