MCID: END020
MIFTS: 49

Endocardial Fibroelastosis malady

Cardiovascular diseases category

Summaries for Endocardial Fibroelastosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Endocardial Fibroelastosis (EFE) is a rare heart disorder usually associated with children two years old... more...

MalaCards: Endocardial Fibroelastosis, also known as elastomyofibrosis, is related to dilated cardiomyopathy and myocardial infarction. An important gene associated with Endocardial Fibroelastosis is TAZ (tafazzin), and among its related pathways are Human Embryonic Stem Cell Pluripotency and Cardiomyocyte Differentiation through BMP Receptors. The compounds mcat and hncs have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and skin, and related mouse phenotype muscle.

Description from OMIM:46 226000,305300

Aliases & Classifications for Endocardial Fibroelastosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

endocardial fibroelastosis 8 42 20 22 10 44 60
elastomyofibrosis 8


External Ids:

Disease Ontology8 DOID:12929
MeSH34 D004695
SNOMED-CT56 65457005
ICD9CM27 425.3
ICD1025 I42.4

Related Diseases for Endocardial Fibroelastosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Endocardial Fibroelastosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy30.8CSRP3, NPPB, NPPA, MYH7, TAZ, ACTN2
2myocardial infarction30.6NPPA, NPPB
3aortic valve stenosis30.6MYH7, NPPA, NPPB
4myocarditis30.6NPPB
5congestive heart failure30.4NPPB, NPPA, MYH7
6mitral valve insufficiency30.2NPPB, NPPA
7mitral valve stenosis30.2NPPB, NPPA
8mumps10.6
9hec syndrome10.5
10atrioventricular block10.4
11hypoplastic left heart syndrome10.4
12hypertension10.4
13mucopolysaccharidosis10.4
14congenital heart block10.3
15mucopolysaccharidosis vi10.3
16barth syndrome10.3
17niemann-pick disease10.2
18mucopolysaccharidosis i10.2
19tricuspid valve insufficiency10.2
20dextrocardia10.2
21peripartum cardiomyopathy10.2
22situs inversus10.2
23interstitial myocarditis10.2
24behcet's disease10.2
25aortic incompetence10.2
26aortic valve insufficiency10.2
27asthma10.2
28cataract10.2
29chronic lymphocytic leukemia10.2
30heavy chain disease10.2
31hydrocephalus10.2
32kidney disease10.2
33leukemia10.2
34pertussis10.2
35sarcoma10.2
36tetanus10.2
3716p11.2 microdeletion10.2
38endomyocardial fibroelastosis10.2
39ebstein anomaly10.0NEBL
40central sleep apnea10.0NPPB
41hypertrophic cardiomyopathy10.0MYH7, CSRP3
42familial hypertrophic cardiomyopathy10.0CSRP3, MYH7
43myopathy10.0TAZ, MYH7
44sick sinus syndrome10.0NPPA
45pulmonary embolism10.0NPPB
46familial restrictive cardiomyopathy10.0NPPB, MYH7
47chagas disease10.0NPPB, MYH7
48sudden cardiac death multi-gene panels10.0MYH7, NPPB
49syndrome of inappropriate antidiuretic hormone10.0NPPB, NPPA
50heart valve disease10.0NPPB, NPPA

Graphical network of the top 20 diseases related to Endocardial Fibroelastosis:



Diseases related to endocardial fibroelastosis

Clinical Features for Endocardial Fibroelastosis

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Sources:
46OMIM
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Clinical features from OMIM:

226000,305300

Drugs & Therapeutics for Endocardial Fibroelastosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Endocardial Fibroelastosis

Drug clinical trials:

Search ClinicalTrials for Endocardial Fibroelastosis

Search NIH Clinical Center for Endocardial Fibroelastosis

Search CenterWatch for Endocardial Fibroelastosis

Genetic Tests for Endocardial Fibroelastosis

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20GeneTests, 22GTR
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Genetic tests related to Endocardial Fibroelastosis:

id Genetic test Affiliating Genes
1 Endocardial Fibroelastosis20 22 TAZ

Anatomical Context for Endocardial Fibroelastosis

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32MalaCards
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MalaCards organs/tissues related to Endocardial Fibroelastosis:

32
Heart, Kidney, Skin, Testes

Animal Models for Endocardial Fibroelastosis or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4NPPA, NPPB, CSRP3, CSRP1

Publications for Endocardial Fibroelastosis

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Sources:
50PubMed
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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 290)
idTitleAuthorsYear
1
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
2
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. (20529397)
2010
3
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
4
Cardiovascular magnetic resonance in endocardial fibroelastosis. (15881519)
2005
5
Contracted form of endocardial fibroelastosis in two siblings. (10453187)
1999
6
Endocardial fibroelastosis in a dog. (9127286)
1997
7
Dilated endocardial fibroelastosis: unusual late finding with congenital hydrops. (9270114)
1997
8
Left ventricular dysfunction in the fetus: relation to aortic valve anomalies and endocardial fibroelastosis. (1837727)
1991
9
Primary endocardial fibroelastosis associated with hydrops fetalis in a premature infant. (2202194)
1990
10
Endocardial fibroelastosis in mucopolysaccharidosis type VI. (3109796)
1987
11
Inheritance of familial primary endocardial fibroelastosis. (3698448)
1986
12
Diagnosis of endocardial fibroelastosis by endomyocardial biopsy in an adult with dilated cardiomyopathy. (3984849)
1985
13
Endocardial fibroelastosis occurring in a mother and daughter. (15227065)
1984
14
Isolated endocardial fibroelastosis of the right ventricle associated with pulmonary hypertension. (6720564)
1984
15
Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis. (6721945)
1984
16
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. (6405371)
1983
17
Postnatal endocardial fibroelastosis of the valve of the foramen ovale. (6450531)
1981
18
Mitral insufficiency and aortic valve stenosis in infancy associated with endocardial fibroelastosis, surgical treatment and long-term results. (6167022)
1981
19
The comparative pathology of primary endocardial fibroelastosis in Burmese cats. (7222469)
1981
20
Endocardial fibroelastosis after replacement of mitral valves with tilting disk prostheses. A report of two cases. (6893136)
1980
21
Endocardial fibroelastosis found on transvascular endomyocardial biospsy in children. (582252)
1979
22
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
23
The contracted form of endocardial fibroelastosis in an adult: hemodynamic and angiographic observations. (4826028)
1974
24
The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. (5060581)
1972
25
Endocardial fibroelastosis: family studies with special reference to counseling. (5567961)
1971
26
Familial occurrence of the contracted form of endocardial fibroelastosis. (5455540)
1970
27
On the nonautoimmune aspects of endocardial fibroelastosis: continued inquiry into the significance of delayed sensitivity to mumps virus. (4987317)
1970
28
Secondary left ventricular endocardial fibroelastosis following mitral valve replacement. Cause of cardiac failure in the late postoperative period. (5646568)
1968
29
Familial endocardial fibroelastosis. (6019751)
1967
30
Proposed embryopathic relation between mumps virus and primary endocardial fibroelastosis. (5947546)
1966
31
Thromboembolic complications in primary endocardial fibroelastosis. (5946651)
1966
32
ENDOCARDIAL FIBROELASTOSIS OF LARGE MAMMALS. (14270573)
1965
33
ENDOCARDIAL FIBROELASTOSIS. (14147793)
1964
34
A DIFFUSE ENDOCARDIAL FIBROELASTOSIS WITH MARKEDLY DILATED RIGHT ATRIUM OBSERVED IN AN ADULT. (14115012)
1964
35
THE DIAGNOSIS OF PRIMARY ENDOCARDIAL FIBROELASTOSIS. (14105029)
1964
36
THE RELATIONSHIP BETWEEN HUMAN ENDOCARDIAL FIBROELASTOSIS AND OBSTRUCTION OF THE CARDIAC LYMPHATICS. (14226171)
1964
37
ENDOCARDIAL FIBROELASTOSIS. (14079804)
1963
38
Primary endocardial fibroelastosis: a review of 15 cases. (13893259)
1962
39
Endocardial fibroelastosis associated with glycogen tumors of the heart and tuberose sclerosis. (13900895)
1962
40
Endocardial fibroelastosis: a review of the theories of etiology. (14415322)
1960
41
First report of the occurrence of neonatal endocardial fibroelastosis in cats and dogs. (13575298)
1958
42
Anomalous left coronary artery and endocardial fibroelastosis. (13398791)
1957
43
Congenital endocardial fibroelastosis and total heart block; report of case. (13314804)
1956
44
ENDOCARDIAL fibroelastosis. (13366202)
1956
45
Endocardial fibroelastosis occurring in the adult. (13218008)
1955
46
Endocardial fibroelastosis; report of three cases. (13214148)
1955
47
Endocardial fibroelastosis: old and new concepts. (14378829)
1955
48
Endocardial fibroelastosis; case report. (13162688)
1954
49
Endocardial fibroelastosis. (13088185)
1953
50
Endocardial fibroelastosis; report of unusual case with impaired ability to fabricate serum proteins. (13079287)
1953

Genetic Variations for Endocardial Fibroelastosis

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Expression for genes affiliated with Endocardial Fibroelastosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Endocardial Fibroelastosis

Search GEO for disease gene expression data for Endocardial Fibroelastosis.

Pathways for genes affiliated with Endocardial Fibroelastosis

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51QIAGEN
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Pathways related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.9MYH7, NPPA, NPPB
28.9MYH7, NPPA, NPPB

Compounds for genes affiliated with Endocardial Fibroelastosis

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1mcat4410.0NPPB, MYH7
2hncs449.8NPPA, NPPB
3p00035449.8NPPA, NPPB
4candoxatril44 1110.8NPPB, NPPA
5alacepril449.7NPPB, NPPA
6imidapril449.7NPPB, NPPA
7urodilatin449.7NPPA, NPPB
8trandolapril44 1110.7NPPB, NPPA
9bisoprolol44 49 1111.7NPPB, NPPA
10hanp449.7NPPB, NPPA
11dobutamine44 28 1111.7NPPA, NPPB
12moxonidine449.7NPPB, NPPA
13fosinopril44 1110.7NPPB, NPPA
14enalaprilat449.7NPPB, NPPA
15lisinopril44 11 2411.7NPPA, NPPB
16nppb44 59 2811.7NPPB, NPPA
17metoprolol44 28 49 11 2413.7NPPB, NPPA
18mibg449.7NPPB, NPPA
19ramipril44 1110.7NPPA, NPPB
208-bromo cgmp449.7NPPA, NPPB
21perindopril44 49 1111.6NPPB, NPPA
22enalapril44 49 1111.6NPPA, NPPB
23amlodipine44 49 11 2412.6NPPB, NPPA
24spironolactone49 44 59 28 1113.6NPPB, NPPA
25phosphoramidon44 1110.6NPPA, NPPB
26carvedilol44 49 28 1112.6NPPA, NPPB
27sildenafil44 49 28 11 2413.6NPPA, NPPB
28spec-t449.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine449.5NPPA, NPPB
30nitroglycerin44 1110.5NPPA, NPPB
31digoxin44 49 59 11 2413.5NPPB, NPPA
32furosemide44 49 59 28 11 2414.4NPPB, NPPA
33captopril44 28 49 59 1113.4NPPB, NPPA
34ang ii449.3NPPB, NPPA
35lithium44 49 11 2412.3NPPA, NPPB
36phenylephrine44 28 11 2412.3MYH7, NPPA, NPPB
37isoproterenol44 1110.3MYH7, NPPA, NPPB
38ryanodine44 28 5911.2MYH7, NPPB
39l-nmma449.2NPPA, NPPB

GO Terms for genes affiliated with Endocardial Fibroelastosis

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16Gene Ontology
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Cellular components related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.2MYH7, NEBL
2Z discGO:0300188.1ACTN2, MYH7, NEBL, CSRP3

Biological processes related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:0487389.9CSRP3, TAZ
2cardiac muscle contractionGO:0600489.8CSRP3, TAZ
3muscle filament slidingGO:0300499.5MYH7, ACTN2
4cGMP biosynthetic processGO:0061829.5NPPA, NPPB
5receptor guanylyl cyclase signaling pathwayGO:0071689.5NPPA, NPPB
6skeletal muscle tissue developmentGO:0075199.5TAZ, CSRP3
7regulation of blood vessel sizeGO:0508809.4NPPA, NPPB
8regulation of blood pressureGO:0082179.3NPPA, NPPB

Molecular functions related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:0510159.2ACTN2, NEBL
2cytoskeletal protein bindingGO:0080928.9ACTN2, NEBL
3structural constituent of muscleGO:0083078.3ACTN2, MYH7, NEBL, CSRP3

Products for genes affiliated with Endocardial Fibroelastosis

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  • Antibodies
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Sources for Endocardial Fibroelastosis

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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