MCID: END020
MIFTS: 49

Endocardial Fibroelastosis malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Endocardial Fibroelastosis

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Endocardial Fibroelastosis, Aliases & Descriptions:

Name: Endocardial Fibroelastosis 9 41 20 11 43 22 60
 
Elastomyofibrosis 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:12929
ICD9CM27 425.3
SNOMED-CT55 65457005
MeSH33 D004695
ICD1025 I42.4

Summaries for Endocardial Fibroelastosis

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Disease Ontology:9 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 pulmonary hypertension and cor pulmonale, 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:63 Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old... more...

Related Diseases for Endocardial Fibroelastosis

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Diseases related to Endocardial Fibroelastosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary hypertension30.4NPPB, NPPA
2cor pulmonale30.3NPPA, NPPB
3congestive heart failure30.2MYH7, NPPA, NPPB
4dilated cardiomyopathy29.9CSRP3, NPPB, NPPA, TAZ, ACTN2, MYH7
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
14endomyocardial fibroelastosis10.4
15aneurysm10.4
16ebstein anomaly10.3NEBL
17sick sinus syndrome10.3NPPA
18central sleep apnea10.2NPPB
19cardiomyopathy, dilated, 1aa10.2
20asthma10.2
21carnitine deficiency, systemic primary10.2
22cardiomyopathy, dilated, 1m10.2
23pick disease10.2
24atrial standstill, digenic10.2
25mucopolysaccharidosis ih10.2
26behcet's disease10.2
27cataract10.2
28chronic lymphocytic leukemia10.2
29congenital heart block10.2
30hydrocephalus10.2
31hypoplastic left heart syndrome10.2
32leukemia10.2
33niemann-pick disease10.2
34dextrocardia10.2
35tricuspid valve insufficiency10.2
36situs inversus10.2
37interstitial myocarditis10.2
38pertussis10.2
39sarcoma10.2
40tetanus10.2
41hypoplastic right heart syndrome10.2
42toriello carey syndrome10.2
43transposition of the great arteries10.2
44anoxia10.2
45hypoxia10.2
46multicystic dysplastic kidney10.2
47endotheliitis10.2
48hypertrophic cardiomyopathy10.1CSRP3, MYH7
49familial restrictive cardiomyopathy10.1MYH7, 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 Fibroelastosis20 22 TAZ

Anatomical Context for Endocardial Fibroelastosis

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MalaCards organs/tissues related to Endocardial Fibroelastosis:

31
Heart, Kidney, Skin, Testes, Endothelial

Animal Models for Endocardial Fibroelastosis or affiliated genes

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MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

35
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 Suite gene sharing:

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 Suite gene sharing:

(show all 44)
idCompoundScoreTop Affiliating Genes
1mcat439.9MYH7, NPPB
2hncs439.8NPPB, NPPA
3p00035439.8NPPB, NPPA
4alacepril439.8NPPA, NPPB
5candoxatril43 1210.8NPPA, NPPB
6imidapril43 4910.8NPPA, NPPB
7urodilatin439.8NPPB, NPPA
8bisoprolol43 49 1211.7NPPA, NPPB
9hanp439.7NPPA, NPPB
10trandolapril43 1210.7NPPA, NPPB
11moxonidine439.7NPPA, NPPB
12fosinopril43 1210.7NPPA, NPPB
13dobutamine43 28 49 1212.7NPPA, NPPB
14enalaprilat439.7NPPB, NPPA
15metoprolol43 49 28 24 1213.7NPPA, NPPB
16lisinopril43 49 24 1212.7NPPA, NPPB
17nppb28 43 5911.7NPPA, NPPB
18mibg439.7NPPB, NPPA
19ramipril43 1210.7NPPA, NPPB
208-bromo cgmp439.7NPPB, NPPA
21perindopril43 49 1211.7NPPA, NPPB
22spironolactone43 59 28 49 1213.7NPPA, NPPB
23amlodipine43 49 24 1212.7NPPA, NPPB
24enalapril43 49 1211.7NPPA, NPPB
25carvedilol43 49 28 1212.7NPPB, NPPA
26phosphoramidon43 1210.6NPPB, NPPA
27sildenafil28 43 49 24 1213.6NPPA, NPPB
28spec-t439.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine439.6NPPB, NPPA
30nitroglycerin43 1210.6NPPA, NPPB
31digoxin43 59 49 24 1213.6NPPB, NPPA
32furosemide43 59 28 49 24 1214.6NPPA, NPPB
33ryanodine43 28 5911.6MYH7, NPPB
34captopril43 59 49 28 1213.6NPPB, NPPA
35ang ii439.5NPPB, NPPA
36l-nmma439.5NPPA, NPPB
37phenylephrine43 28 24 1212.3NPPB, NPPA, MYH7
38lithium43 49 24 1212.3NPPB, NPPA
39catecholamine439.3NPPB, NPPA
40isoproterenol43 1210.3MYH7, NPPA, NPPB
41losartan43 49 28 1212.2NPPA, NPPB
42sodium43 2410.1NPPB, NPPA, MYH7
43haloperidol43 49 28 2 1213.0NPPB, NPPA
44creatinine439.0NPPB, NPPA, MYH7

GO Terms for genes affiliated with Endocardial Fibroelastosis

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Cellular components related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet