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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Sources:
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
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. (23109789)
2012
2
Endocardial fibroelastosis of the heart. (22217671)
2012
3
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
4
MR findings of endocardial fibroelastosis in children. (18172637)
2008
5
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. (17019812)
2006
6
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. (12204513)
2002
7
Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney. (11560361)
2000
8
Endocardial fibroelastosis as a cause of sudden unexpected death. (10624930)
1999
9
Viral infection of the myocardium in endocardial fibroelastosis. Molecular evidence for the role of mumps virus as an etiologic agent. (8994428)
1997
10
Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. (8674264)
1996
11
Endocardial fibroelastosis in common domestic cats in the UK. (8040394)
1994
12
Contracted form of primary endocardial fibroelastosis in a young adult without congestive heart failure. (3398240)
1988
13
Natural history and prognostic risk factors in endocardial fibroelastosis. (3414520)
1988
14
Endocardial fibroelastosis: possible X linked inheritance. (3585935)
1987
15
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6225448)
1983
16
Endocardial fibroelastosis associated with fatal adriamycin (doxorubicin) cardiomyopathy during treatment of Ewing's sarcoma. (6612319)
1983
17
Endocardial fibroelastosis in Burmese cats. (7065121)
1982
18
Parvovirus: a possible etiologic agent in cardiomyopathy and endocardial fibroelastosis. (7429486)
1980
19
Familial nonobstructive cardiomyopathy with endocardial fibroelastosis beyond infancy. (148030)
1978
20
Endocardial fibroelastosis and Niemann-Pick disease. (603744)
1977
21
An overview of primary endocardial fibroelastosis and chronic viral cardiomyopathy. (4211802)
1974
22
Endocardial fibroelastosis: radiological and angiocardiographic signs]. (4280882)
1974
23
Animal model: pulmonary hypertension, cor pulmonale and endocardial fibroelastosis in monocrotaline-intoxicated nonhuman primates. (4632009)
1973
24
Congenital endocardial fibroelastosis. (4656843)
1972
25
Development of endocardial fibroelastosis following myocardial infarction. (5099882)
1971
26
The elctrocardiogram in the contracted type of primary endocardial fibroelastosis. (5543917)
1971
27
Endocardial fibroelastosis in a Great Dane pup. (4254713)
1971
28
Endocardial fibroelastosis. A continuing and unsolved dilemma. (5088500)
1971
29
Anomalous pulmonary vein serving as collateral channel in aortic stenosis with hypoplastic left ventricle and endocardial fibroelastosis. (5411723)
1970
30
Endocardial fibroelastosis in children. Comparative investigation on the structure of endocardium and on the coronary arterial system. (5407580)
1969
31
Postnatal mumps virus infection. Associated with endocardial fibroelastosis. (5822057)
1969
32
Congenital endocardial fibroelastosis in the adult. (Autopsy and report of a case--review of the literature). (5738429)
1968
33
Adult endocardial fibroelastosis in Japan. A case report and a review. (5756145)
1968
34
Primary endocardial fibroelastosis: report of a case. (5974796)
1966
35
Infantile myocarditis and endocardial fibroelastosis: report of a case. (5954351)
1966
36
ROENTGENOGRAPHIC MANIFESTATIONS OF ENDOCARDIAL FIBROELASTOSIS. (14281847)
1965
37
PRIMARY ENDOCARDIAL FIBROELASTOSIS IN THREE SIBLINGS. (14279495)
1965
38
Management of primary endomyocardial disease. The myocarditis-endocardial fibroelastosis syndrome. (4236174)
1964
39
Primary endocardial fibroelastosis in siblings. (13925665)
1962
40
Congenital endocardial fibroelastosis and complete (third-degree) A-V block in two sisters: case reports. (14484642)
1962
41
Idiopathic cardiac hypertrophy with endocardial fibroelastosis in infancy and childhood. (14419155)
1960
42
Adult endocardial fibroelastosis associated with dextrocardia and situs inversus. (14402397)
1960
43
Electrocardiogram of the month: endocardial fibroelastosis. (13829556)
1959
44
Adult endocardial fibroelastosis: report of a case mimicking mitral stenosis. (13661796)
1959
45
Endocardial fibroelastosis: cardiac catheterization findings and diagnostic criteria for antemortem diagnosis. (13514631)
1958
46
Endocardial fibroelastosis; report of a case. (13213347)
1954
47
Endocardial fibroelastosis with Adams-Stokes syndrome: a case report. (13256577)
1954
48
Endocardial fibroelastosis. (13057556)
1953
49
Endocardial fibroelastosis: case reports with special emphasis on the clinical findings. (14955738)
1952
50
Endocardial fibroelastosis. (14867809)
1951

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