MCID: END020
MIFTS: 53

Endocardial Fibroelastosis malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Endocardial Fibroelastosis

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.

MalaCards: Endocardial Fibroelastosis, also known as elastomyofibrosis, is related to dilated cardiomyopathy and aortic valve stenosis. An important gene associated with Endocardial Fibroelastosis is TAZ (tafazzin), and among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Human Embryonic Stem Cell Pluripotency. The compounds mcat and p00035 have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and kidney, and related mouse phenotype muscle.

Wikipedia:65 Endocardial Fibroelastosis (EFE) is a rare heart disorder usually associated with children two years old... more...

Description from OMIM:47 305300,226000

Aliases & Classifications for Endocardial Fibroelastosis

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 27ICD9CM, 35MeSH, 58SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

endocardial fibroelastosis 8 43 20 22 10 45 62
elastomyofibrosis 8


External Ids:

Disease Ontology8 DOID:12929
ICD9CM27 425.3
SNOMED-CT58 65457005
MeSH35 D004695
ICD1025 I42.4

Related Diseases for Endocardial Fibroelastosis

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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 cardiomyopathy30.7CSRP3, NPPB, NPPA, TAZ, ACTN2, MYH7
2aortic valve stenosis30.7NPPA, NPPB, MYH7
3congestive heart failure30.5MYH7, NPPA, NPPB
4cor pulmonale30.3NPPA, NPPB
5mumps10.7
6hec syndrome10.6
7myocardial infarction10.5
8atrioventricular block10.4
9hypertension10.4
10mucopolysaccharidosis10.4
11myocarditis10.4
12barth syndrome10.3
13hydrops fetalis10.3
14aneurysm10.3
15congenital heart block10.2
16dextrocardia10.2
17tricuspid valve insufficiency10.2
18hypoplastic left heart syndrome10.2
19situs inversus10.2
20interstitial myocarditis10.2
21mucopolysaccharidosis i10.2
22behcet's disease10.2
23niemann-pick disease10.2
24asthma10.2
25cataract10.2
26chronic lymphocytic leukemia10.2
27hydrocephalus10.2
28leukemia10.2
29pertussis10.2
30sarcoma10.2
31tetanus10.2
32endomyocardial fibroelastosis10.2
33hypoplastic right heart syndrome10.2
34toriello carey syndrome10.2
35transposition of the great arteries10.2
36anoxia10.2
37hypoxia10.2
38thromboembolism10.2
39multicystic dysplastic kidney10.2
40ebstein anomaly10.1NEBL
41sick sinus syndrome10.1NPPA
42central sleep apnea10.1NPPB
43familial hypertrophic cardiomyopathy10.0MYH7, CSRP3
44hypertrophic cardiomyopathy10.0CSRP3, MYH7
45familial restrictive cardiomyopathy10.0MYH7, NPPB
46mitral valve stenosis10.0NPPA, NPPB
47mitral valve insufficiency10.0NPPB, NPPA
48syndrome of inappropriate antidiuretic hormone10.0NPPA, NPPB
49heart valve disease10.0NPPB, NPPA
50hypertensive heart disease10.0NPPA, NPPB

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



Diseases related to endocardial fibroelastosis

Symptoms for Endocardial Fibroelastosis

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47OMIM
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Clinical features from OMIM:

305300,226000

Drugs & Therapeutics for Endocardial Fibroelastosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Endocardial Fibroelastosis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Endocardial Fibroelastosis:

33
Heart, Skin, Kidney, Testes

Animal Models for Endocardial Fibroelastosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4NPPB, NPPA, CSRP3, CSRP1

Publications for Endocardial Fibroelastosis

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52PubMed
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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 289)
idTitleAuthorsYear
1
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
2
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
3
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
4
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. (18442941)
2008
5
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
6
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
7
Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis. (11854125)
2002
8
Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney. (11560361)
2000
9
The contracted type of endocardial fibroelastosis. (10198742)
1999
10
Endocardial fibroelastosis in growth-discordant monozygotic twins. (9724339)
1998
11
Combination of fatal digoxin poisoning with endocardial fibroelastosis. (9363630)
1997
12
Cardiac transplantation in a neonate with endocardial fibroelastosis. (15227396)
1990
13
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
14
Contracted form of primary endocardial fibroelastosis in a young adult without congestive heart failure. (3398240)
1988
15
Natural history and prognostic risk factors in endocardial fibroelastosis. (3414520)
1988
16
Fetal echocardiographic signs of congenital endocardial fibroelastosis. (2969084)
1988
17
Clinico-pathological study on primary endocardial fibroelastosis. (3144837)
1987
18
Inheritance of familial primary endocardial fibroelastosis. (3698448)
1986
19
Endocardial fibroelastosis and infantile polycystic disease. (4062721)
1985
20
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6732999)
1984
21
Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis. (6672782)
1983
22
Postnatal endocardial fibroelastosis of the valve of the foramen ovale. (6450531)
1981
23
Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia. (7417948)
1980
24
Case report. Fetal cardiac failure resulting from endocardial fibroelastosis. (4463269)
1974
25
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
26
The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. (5060581)
1972
27
Elastic fibers in endocardial fibroelastosis. (5079853)
1972
28
Endocardial fibroelastosis in children with special reference to the lesions of cardiac ganglia. (5573440)
1971
29
Endocardial fibroelastosis: family studies with special reference to counseling. (5567961)
1971
30
Ventricular endocardial fibroelastosis. Basis for its presence or absence in cases of pulmonic and aortic atresia. (5782440)
1969
31
Congenital endocardial fibroelastosis in the adult. (Autopsy and report of a case--review of the literature). (5738429)
1968
32
Endocardial fibroelastosis in South Carolina. (5245358)
1968
33
Hemodynamic findings in children with endocardial fibroelastosis. Analysis of 22 cases. (4951313)
1968
34
Primary endocardial fibroelastosis. (5958562)
1966
35
Generalized glycogenosis and associated endocardial fibroelastosis. Report of 3 cases with biochemical studies. (5215120)
1965
36
ROENTGENOGRAPHIC MANIFESTATIONS OF ENDOCARDIAL FIBROELASTOSIS. (14281847)
1965
37
ENDOCARDIAL FIBROELASTOSIS. (14147793)
1964
38
ENDOCARDIAL FIBROELASTOSIS. (14160251)
1964
39
Primary endocardial fibroelastosis in siblings. (13925665)
1962
40
Electrocardiographic anatomical correlations in endocardial fibroelastosis, with notes of vectorcardiographic studies in five living subjects. (14469883)
1962
41
Endocardial fibroelastosis in siblings. (13846986)
1960
42
Idiopathic cardiac hypertrophy with endocardial fibroelastosis in infancy and childhood. (14419155)
1960
43
The problem of endocardial fibroelastosis. (13628349)
1959
44
Clinical and roentgen features of endocardial fibroelastosis. Report of six cases. (13709738)
1959
45
First report of the occurrence of neonatal endocardial fibroelastosis in cats and dogs. (13575298)
1958
46
Endocardial fibroelastosis. (13462608)
1957
47
Endocardial fibroelastosis in infants associated with thrombosis and calcification of arteries and myocardial infarcts. (13358867)
1956
48
Endocardial fibroelastosis; report of a case. (13213347)
1954
49
The structural features of epiloia, with special reference to endocardial fibroelastosis. (13163196)
1954
50
Endocardial fibroelastosis. (13031402)
1953

Variations for Endocardial Fibroelastosis

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Expression for genes affiliated with Endocardial Fibroelastosis

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 53QIAGEN
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Pathways related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NPPB, NPPA
2
Show member pathways
8.9NPPB, NPPA, MYH7
38.9NPPB, NPPA, MYH7

Compounds for genes affiliated with Endocardial Fibroelastosis

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1mcat459.9MYH7, NPPB
2p00035459.8NPPA, NPPB
3hncs459.8NPPB, NPPA
4candoxatril45 1110.8NPPA, NPPB
5alacepril459.8NPPA, NPPB
6imidapril45 5110.8NPPA, NPPB
7urodilatin459.8NPPB, NPPA
8bisoprolol45 51 1111.7NPPB, NPPA
9trandolapril45 1110.7NPPB, NPPA
10hanp459.7NPPB, NPPA
11fosinopril45 1110.7NPPB, NPPA
12dobutamine45 29 51 1112.7NPPB, NPPA
13moxonidine459.7NPPA, NPPB
14enalaprilat459.7NPPB, NPPA
15lisinopril45 51 24 1112.7NPPA, NPPB
16metoprolol45 51 29 24 1113.7NPPA, NPPB
17nppb29 45 6111.7NPPA, NPPB
18mibg459.7NPPB, NPPA
19ramipril45 1110.7NPPA, NPPB
208-bromo cgmp459.7NPPB, NPPA
21perindopril45 51 1111.7NPPA, NPPB
22spironolactone45 61 29 51 1113.7NPPA, NPPB
23enalapril45 51 1111.7NPPA, NPPB
24amlodipine45 51 24 1112.7NPPB, NPPA
25carvedilol45 51 29 1112.7NPPB, NPPA
26phosphoramidon45 1110.6NPPA, NPPB
27sildenafil29 45 51 24 1113.6NPPB, NPPA
28spec-t459.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine459.6NPPB, NPPA
30nitroglycerin45 1110.6NPPB, NPPA
31digoxin45 61 51 24 1113.6NPPB, NPPA
32furosemide45 61 29 51 24 1114.6NPPB, NPPA
33ryanodine45 29 6111.6NPPB, MYH7
34ang ii459.6NPPA, NPPB
35captopril45 61 51 29 1113.5NPPB, NPPA
36l-nmma459.5NPPB, NPPA
37phenylephrine45 29 24 1112.3MYH7, NPPA, NPPB
38lithium45 51 24 1112.3NPPA, NPPB
39catecholamine459.3NPPA, NPPB
40isoproterenol45 1110.3NPPB, NPPA, MYH7
41losartan45 51 29 1112.2NPPB, NPPA
42sodium45 2410.1NPPA, NPPB, MYH7
43haloperidol45 51 29 3 1113.0NPPA, NPPB
44creatinine459.0NPPB, MYH7, NPPA

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:0017259.2NEBL, MYH7
2Z discGO:0300188.1CSRP3, ACTN2, NEBL, MYH7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:0487389.9TAZ, CSRP3
2cardiac muscle contractionGO:0600489.8TAZ, CSRP3
3regulation of the force of heart contractionGO:0020269.8CSRP3, MYH7
4muscle contractionGO:0069369.7MYH7, TAZ
5skeletal muscle tissue developmentGO:0075199.7CSRP3, TAZ
6muscle filament slidingGO:0300499.6MYH7, ACTN2
7cGMP biosynthetic processGO:0061829.6NPPB, NPPA
8receptor guanylyl cyclase signaling pathwayGO:0071689.5NPPB, NPPA
9regulation of blood vessel sizeGO:0508809.5NPPA, NPPB
10regulation of blood pressureGO:0082179.0NPPA, NPPB

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.3NPPB, NPPA
2cytoskeletal protein bindingGO:0080929.1ACTN2, NEBL
3actin filament bindingGO:0510158.9ACTN2, NEBL
4structural constituent of muscleGO:0083078.8CSRP3, ACTN2, NEBL

Products for genes affiliated with Endocardial Fibroelastosis

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Sources for Endocardial Fibroelastosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet