MCID: END020
MIFTS: 54

Endocardial Fibroelastosis malady

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

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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 based summary: Endocardial Fibroelastosis, also known as elastomyofibrosis, is related to aortic valve stenosis and pulmonary hypertension. 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 hncs have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and skin, and related mouse phenotype muscle.

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

Descriptions from OMIM:46 305300,226000

Aliases & Classifications for Endocardial Fibroelastosis

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Endocardial Fibroelastosis, Aliases & Descriptions:

Name: Endocardial Fibroelastosis 8 42 20 22 10 44 62
 
Elastomyofibrosis 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:12929
ICD9CM27 425.3
SNOMED-CT57 65457005
MeSH34 D004695
ICD1025 I42.4

Related Diseases for Endocardial Fibroelastosis

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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
1aortic valve stenosis30.5MYH7, NPPA, NPPB
2pulmonary hypertension30.4NPPA, NPPB
3cor pulmonale30.3NPPB, NPPA
4congestive heart failure30.2MYH7, NPPA, NPPB
5dilated cardiomyopathy30.0MYH7, ACTN2, CSRP3, TAZ, NPPA, NPPB
6mumps10.7
7hec syndrome10.6
8myocardial infarction10.5
9hypertension10.4
10atrioventricular block10.4
11mucopolysaccharidosis10.4
12myocarditis10.4
13barth syndrome10.4
14hydrops fetalis10.4
15aneurysm10.4
16ebstein anomaly10.3NEBL
17sick sinus syndrome10.3NPPA
18central sleep apnea10.2NPPB
19asthma10.2
20behcet's disease10.2
21cataract10.2
22chronic lymphocytic leukemia10.2
23congenital heart block10.2
24hydrocephalus10.2
25hypoplastic left heart syndrome10.2
26leukemia10.2
27mucopolysaccharidosis i10.2
28niemann-pick disease10.2
29situs inversus10.2
30interstitial myocarditis10.2
31dextrocardia10.2
32tricuspid valve insufficiency10.2
33pertussis10.2
34sarcoma10.2
35tetanus10.2
36endomyocardial fibroelastosis10.2
37hypoplastic right heart syndrome10.2
38toriello carey syndrome10.2
39transposition of the great arteries10.2
40anoxia10.2
41hypoxia10.2
42thromboembolism10.2
43multicystic dysplastic kidney10.2
44familial hypertrophic cardiomyopathy10.2CSRP3, MYH7
45familial restrictive cardiomyopathy10.1MYH7, NPPB
46hypertrophic cardiomyopathy10.0CSRP3, MYH7
47syndrome of inappropriate antidiuretic hormone10.0NPPA, NPPB
48mitral valve insufficiency10.0NPPA, NPPB
49mitral valve stenosis10.0NPPA, NPPB
50heart valve disease9.9NPPA, 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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Clinical features from OMIM:

305300,226000

Drugs & Therapeutics for Endocardial Fibroelastosis

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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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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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MalaCards organs/tissues related to Endocardial Fibroelastosis:

32
Heart, Kidney, Skin, Testes

Animal Models for Endocardial Fibroelastosis or affiliated genes

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MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

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

Publications for Endocardial Fibroelastosis

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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 290)
idTitleAuthorsYear
1
Neonatal Ross-Konno operation and endocardial fibroelastosis resection after foetal percutaneous aortic valve balloon valvuloplasty: a complex approach to rescue the left heart. (24627438)
2014
2
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. (24854131)
2014
3
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
4
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
5
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
6
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. (18442941)
2008
7
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
8
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
9
Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney. (11560361)
2000
10
The contracted type of endocardial fibroelastosis. (10198742)
1999
11
Endocardial fibroelastosis in growth-discordant monozygotic twins. (9724339)
1998
12
Combination of fatal digoxin poisoning with endocardial fibroelastosis. (9363630)
1997
13
Cardiac transplantation in a neonate with endocardial fibroelastosis. (15227396)
1990
14
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
15
Contracted form of primary endocardial fibroelastosis in a young adult without congestive heart failure. (3398240)
1988
16
Natural history and prognostic risk factors in endocardial fibroelastosis. (3414520)
1988
17
Fetal echocardiographic signs of congenital endocardial fibroelastosis. (2969084)
1988
18
Clinico-pathological study on primary endocardial fibroelastosis. (3144837)
1987
19
Inheritance of familial primary endocardial fibroelastosis. (3698448)
1986
20
Endocardial fibroelastosis and infantile polycystic disease. (4062721)
1985
21
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6732999)
1984
22
Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis. (6672782)
1983
23
Postnatal endocardial fibroelastosis of the valve of the foramen ovale. (6450531)
1981
24
Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia. (7417948)
1980
25
Case report. Fetal cardiac failure resulting from endocardial fibroelastosis. (4463269)
1974
26
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
27
The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. (5060581)
1972
28
Elastic fibers in endocardial fibroelastosis. (5079853)
1972
29
Endocardial fibroelastosis in children with special reference to the lesions of cardiac ganglia. (5573440)
1971
30
Endocardial fibroelastosis: family studies with special reference to counseling. (5567961)
1971
31
Ventricular endocardial fibroelastosis. Basis for its presence or absence in cases of pulmonic and aortic atresia. (5782440)
1969
32
Congenital endocardial fibroelastosis in the adult. (Autopsy and report of a case--review of the literature). (5738429)
1968
33
Endocardial fibroelastosis in South Carolina. (5245358)
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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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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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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Compounds related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1mcat449.9MYH7, NPPB
2hncs449.8NPPB, NPPA
3p00035449.8NPPB, NPPA
4alacepril449.8NPPA, NPPB
5candoxatril44 1110.8NPPA, NPPB
6imidapril44 5010.8NPPA, NPPB
7urodilatin449.8NPPB, NPPA
8bisoprolol44 50 1111.7NPPA, NPPB
9hanp449.7NPPA, NPPB
10trandolapril44 1110.7NPPA, NPPB
11moxonidine449.7NPPA, NPPB
12fosinopril44 1110.7NPPA, NPPB
13dobutamine44 28 50 1112.7NPPA, NPPB
14enalaprilat449.7NPPB, NPPA
15metoprolol44 50 28 24 1113.7NPPA, NPPB
16lisinopril44 50 24 1112.7NPPA, NPPB
17nppb28 44 6111.7NPPA, NPPB
18mibg449.7NPPB, NPPA
19ramipril44 1110.7NPPA, NPPB
208-bromo cgmp449.7NPPB, NPPA
21perindopril44 50 1111.7NPPA, NPPB
22spironolactone44 61 28 50 1113.7NPPA, NPPB
23amlodipine44 50 24 1112.7NPPA, NPPB
24enalapril44 50 1111.7NPPA, NPPB
25carvedilol44 50 28 1112.7NPPB, NPPA
26phosphoramidon44 1110.6NPPB, NPPA
27sildenafil28 44 50 24 1113.6NPPA, NPPB
28spec-t449.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine449.6NPPB, NPPA
30nitroglycerin44 1110.6NPPA, NPPB
31digoxin44 61 50 24 1113.6NPPB, NPPA
32furosemide44 61 28 50 24 1114.6NPPA, NPPB
33ryanodine44 28 6111.6MYH7, NPPB
34captopril44 61 50 28 1113.6NPPB, NPPA
35ang ii449.5NPPB, NPPA
36l-nmma449.5NPPA, NPPB
37phenylephrine44 28 24 1112.3NPPB, NPPA, MYH7
38lithium44 50 24 1112.3NPPB, NPPA
39catecholamine449.3NPPB, NPPA
40isoproterenol44 1110.3MYH7, NPPA, NPPB
41losartan44 50 28 1112.2NPPA, NPPB
42sodium44 2410.1NPPB, NPPA, MYH7
43haloperidol44 50 28 2 1113.0NPPB, NPPA
44creatinine449.0NPPB, NPPA, MYH7

GO Terms for genes affiliated with Endocardial Fibroelastosis

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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:0600489.8CSRP3, TAZ
3regulation of the force of heart contractionGO:0020269.8CSRP3, MYH7
4muscle contractionGO:0069369.7TAZ, MYH7
5skeletal muscle tissue developmentGO:0075199.7TAZ, CSRP3
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:0082179.0NPPB, NPPA

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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet