MCID: END020
MIFTS: 56

Endocardial Fibroelastosis malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Endocardial Fibroelastosis

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Disease Ontology:10 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 dilated cardiomyopathy and pulmonary hypertension, and has symptoms including autosomal recessive inheritance, cryptorchidism and abnormality of the nervous system. 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 occurring in children two years old... more...

Aliases & Classifications for Endocardial Fibroelastosis

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Endocardial Fibroelastosis, Aliases & Descriptions:

Name: Endocardial Fibroelastosis 10 43 22 12 45 24 62
 
Elastomyofibrosis 10


Classifications:

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


External Ids:

Disease Ontology10 DOID:12929
ICD9CM29 425.3
SNOMED-CT57 65457005
MeSH35 D004695
ICD1027 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 62)
idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy30.9CSRP3, NPPB, NPPA, TAZ, ACTN2, MYH7
2pulmonary hypertension30.6NPPB, NPPA
3congestive heart failure30.5MYH7, NPPA, NPPB
4cor pulmonale30.3NPPA, NPPB
5mumps10.7
6hec syndrome10.7
7myocardial infarction10.5
8barth syndrome10.4
9atrioventricular block10.4
10mucopolysaccharidosis10.4
11myocarditis10.4
12hydrops fetalis10.4
13mucopolysaccharidosis type vi10.4
14aneurysm10.4
15cardiomyopathy, dilated, 1aa10.2
16asthma10.2
17carnitine deficiency, systemic primary10.2
18cardiomyopathy, dilated, 1m10.2
19pick disease10.2
20atrial standstill, digenic10.2
21mucopolysaccharidosis ih10.2
22behcet's disease10.2
23cataract10.2
24chronic lymphocytic leukemia10.2
25congenital heart block10.2
26hydrocephalus10.2
27hypoplastic left heart syndrome10.2
28leukemia10.2
29niemann-pick disease10.2
30dextrocardia10.2
31tricuspid valve insufficiency10.2
32situs inversus10.2
33interstitial myocarditis10.2
34pertussis10.2
35sarcoma10.2
36tetanus10.2
37endomyocardial fibroelastosis10.2
38hypoplastic right heart syndrome10.2
39toriello carey syndrome10.2
40transposition of the great arteries10.2
41anoxia10.2
42hypoxia10.2
43multicystic dysplastic kidney10.2
44endotheliitis10.2
45ebstein anomaly10.0NEBL
46sick sinus syndrome10.0NPPA
47central sleep apnea10.0NPPB
48hypertrophic cardiomyopathy10.0CSRP3, MYH7
49familial restrictive cardiomyopathy10.0MYH7, NPPB
50mitral valve stenosis10.0NPPA, 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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HPO human phenotypes related to Endocardial Fibroelastosis:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 abnormality of the nervous system HP:0000707
4 heterogeneous HP:0001425
5 congestive heart failure HP:0001635
6 cardiomyopathy HP:0001638
7 endocardial fibroelastosis HP:0001706
8 abnormal facial shape HP:0001999

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 Fibroelastosis22 24 TAZ

Anatomical Context for Endocardial Fibroelastosis

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MalaCards organs/tissues related to Endocardial Fibroelastosis:

33
Heart, Kidney, Skin, Testes, Endothelial

Animal Models for Endocardial Fibroelastosis or affiliated genes

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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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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 293)
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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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
1mcat459.9MYH7, NPPB
2hncs459.8NPPB, NPPA
3p00035459.8NPPB, NPPA
4alacepril459.8NPPA, NPPB
5candoxatril45 1310.8NPPA, NPPB
6imidapril45 5110.8NPPA, NPPB
7urodilatin459.8NPPB, NPPA
8bisoprolol45 51 1311.7NPPA, NPPB
9hanp459.7NPPA, NPPB
10trandolapril45 1310.7NPPA, NPPB
11moxonidine459.7NPPA, NPPB
12fosinopril45 1310.7NPPA, NPPB
13dobutamine45 30 51 1312.7NPPA, NPPB
14enalaprilat459.7NPPB, NPPA
15metoprolol45 51 30 26 1313.7NPPA, NPPB
16lisinopril45 51 26 1312.7NPPA, NPPB
17nppb30 45 6111.7NPPA, NPPB
18mibg459.7NPPB, NPPA
19ramipril45 1310.7NPPA, NPPB
208-bromo cgmp459.7NPPB, NPPA
21perindopril45 51 1311.7NPPA, NPPB
22spironolactone45 61 30 51 1313.7NPPA, NPPB
23amlodipine45 51 26 1312.7NPPA, NPPB
24enalapril45 51 1311.7NPPA, NPPB
25carvedilol45 51 30 1312.7NPPB, NPPA
26phosphoramidon45 1310.6NPPB, NPPA
27sildenafil30 45 51 26 1313.6NPPA, NPPB
28spec-t459.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine459.6NPPB, NPPA
30nitroglycerin45 1310.6NPPA, NPPB
31digoxin45 61 51 26 1313.6NPPB, NPPA
32furosemide45 61 30 51 26 1314.6NPPA, NPPB
33ryanodine45 30 6111.6MYH7, NPPB
34captopril45 61 51 30 1313.6NPPB, NPPA
35ang ii459.5NPPB, NPPA
36l-nmma459.5NPPA, NPPB
37phenylephrine45 30 26 1312.3NPPB, NPPA, MYH7
38lithium45 51 26 1312.3NPPB, NPPA
39catecholamine459.3NPPB, NPPA
40isoproterenol45 1310.3MYH7, NPPA, NPPB
41losartan45 51 30 1312.2NPPA, NPPB
42sodium45 2610.1NPPB, NPPA, MYH7
43haloperidol45 51 30 3 1313.0NPPB, NPPA
44creatinine459.0NPPB, 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:00017259.2NEBL, MYH7
2Z discGO:00300188.1CSRP3, ACTN2, NEBL, MYH7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:00487389.9TAZ, CSRP3
2cardiac muscle contractionGO:00600489.8CSRP3, TAZ
3regulation of the force of heart contractionGO:00020269.8CSRP3, MYH7
4muscle contractionGO:00069369.7TAZ, MYH7
5skeletal muscle tissue developmentGO:00075199.7TAZ, CSRP3
6muscle filament slidingGO:00300499.6MYH7, ACTN2
7cGMP biosynthetic processGO:00061829.6NPPB, NPPA
8receptor guanylyl cyclase signaling pathwayGO:00071689.5NPPB, NPPA
9regulation of blood vessel sizeGO:00508809.5NPPA, NPPB
10regulation of blood pressureGO:00082179.0NPPB, NPPA

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.3NPPB, NPPA
2cytoskeletal protein bindingGO:00080929.1ACTN2, NEBL
3actin filament bindingGO:00510158.9ACTN2, NEBL
4structural constituent of muscleGO:00083078.8CSRP3, ACTN2, NEBL

Products for genes affiliated with Endocardial Fibroelastosis

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Sources for Endocardial Fibroelastosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet