MCID: END020
MIFTS: 46

Endocardial Fibroelastosis malady

Cardiovascular category

Summaries for Endocardial Fibroelastosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 aortic valve stenosis and ebstein anomaly. 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:47 226000,305300

Aliases & Classifications for Endocardial Fibroelastosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT, 27ICD9CM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular


Aliases & Descriptions:

endocardial fibroelastosis 8 43 20 22 10 45 61
elastomyofibrosis 8


External Ids:

Disease Ontology8 DOID:12929
MeSH35 D004695
SNOMED-CT57 65457005
ICD9CM27 425.3
ICD1025 I42.4

Related Diseases for Endocardial Fibroelastosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1aortic valve stenosis30.7MYH7, NPPA, NPPB
2ebstein anomaly30.5NEBL
3mitral valve insufficiency30.2NPPB, NPPA
4mitral valve stenosis30.2NPPB, NPPA
5mumps10.7
6hec syndrome10.5
7atrioventricular block10.4
8hypoplastic left heart syndrome10.4
9endomyocardial fibroelastosis10.4
10congenital heart block10.3
11mucopolysaccharidosis i10.3
12barth syndrome10.3
13hydrops fetalis10.3
14niemann-pick disease10.2
15tricuspid valve insufficiency10.2
16mu chain disease10.2
17dextrocardia10.2
18peripartum cardiomyopathy10.2
19situs inversus10.2
20interstitial myocarditis10.2
21aortic incompetence10.2
22n syndrome10.2
23aortic valve insufficiency10.2
24asthma10.2
25tetanus10.2
26niemann–pick disease10.2
27toriello carey syndrome10.2
28heart tumor10.2
29pulmonary vein stenosis10.2
30anoxia10.2
31hypoxia10.2
32central sleep apnea10.0NPPB
33myocarditis10.0NPPB
34hypertrophic cardiomyopathy10.0MYH7, CSRP3
35familial hypertrophic cardiomyopathy10.0CSRP3, MYH7
36myopathy10.0TAZ, MYH7
37sick sinus syndrome10.0NPPA
38pulmonary embolism10.0NPPB
39familial restrictive cardiomyopathy10.0NPPB, MYH7
40chagas disease10.0NPPB, MYH7
41sudden cardiac death multi-gene panels10.0MYH7, NPPB
42syndrome of inappropriate antidiuretic hormone10.0NPPB, NPPA
43heart valve disease10.0NPPB, NPPA
44idiopathic edema10.0NPPB, NPPA
45hypertensive heart disease10.0NPPA, NPPB
46cor pulmonale10.0NPPB, NPPA
47myocardial infarction10.0NPPA, NPPB
48congestive heart failure10.0NPPB, NPPA, MYH7
49congenital heart defect10.0NPPB, NPPA, MYH7
50primary pulmonary hypertension10.0NPPB, NPPA

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



Diseases related to endocardial fibroelastosis

Clinical Features for Endocardial Fibroelastosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

226000,305300

Drugs & Therapeutics for Endocardial Fibroelastosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Endocardial Fibroelastosis:

id Genetic test Affiliating Genes
1 Endocardial Fibroelastosis20 22 TAZ

Anatomical Context for Endocardial Fibroelastosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Endocardial Fibroelastosis:

33
Heart, Kidney, Skin

Animal Models for Endocardial Fibroelastosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

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

Publications for Endocardial Fibroelastosis

Sources:
51PubMed
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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 290)
idTitleAuthorsYear
1
Primary endocardial fibroelastosis of the left ventricle. (23304055)
2012
2
Changing concepts of endocardial fibroelastosis. (20346203)
2010
3
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. (20395675)
2010
4
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. (21126622)
2010
5
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. (19667241)
2009
6
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. (18826986)
2009
7
Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. (19099859)
2008
8
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. (17346634)
2007
9
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
10
Early prenatal diagnosis of endocardial fibroelastosis. (15988785)
2005
11
Doppler fetal echocardiography in endocardial fibroelastosis. (11704210)
2001
12
Endocardial fibroelastosis in growth-discordant monozygotic twins. (9724339)
1998
13
Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts. (9252790)
1996
14
Endocardial fibroelastosis: an unusual cause of pulmonary hypertension in pregnancy. (8540931)
1995
15
Fetal endocardial fibroelastosis. (8046048)
1994
16
Heart transplant in Ebstein's anomaly with endocardial fibroelastosis. (1636604)
1992
17
Restrictive endocardial fibroelastosis in a neonate without other cardiac pathology. (1452784)
1992
18
Endocardial fibroelastosis in infants with hydrops fetalis. (1856290)
1991
19
Dilated and contracted forms of primary endocardial fibroelastosis: a single fetal disease with two stages of development. (2278804)
1990
20
Clinico-pathological study on primary endocardial fibroelastosis. (3144837)
1987
21
Endocardial fibroelastosis in two siblings with the infantile type and the childhood type. (3816871)
1986
22
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6732999)
1984
23
Endocardial fibroelastosis. Clinico-pathological study of 38 cases. (6728720)
1984
24
Endocardial fibroelastosis with predominant involvement of left atrium. Possibility of diagnosis by non-invasive methods. (7295426)
1981
25
Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia. (7417948)
1980
26
The athogenesis of endocardial fibroelastosis in Burmese cats. (7354614)
1980
27
Glomerular lesions in congenital endocardial fibroelastosis: clinical manifestations and ultrastructural studies in two patients. (580881)
1978
28
Prognostic value of the electrocardiogram in endocardial fibroelastosis. (131569)
1976
29
Heredity in primary endocardial fibroelastosis. (127595)
1975
30
Primary endocardial fibroelastosis. An inherited condition. (4265460)
1973
31
Anomalous left coronary artery or left ventricular endocardial fibroelastosis? (4274247)
1973
32
Experimental gestational mumps virus infection and endocardial fibroelastosis. (5166115)
1971
33
Mitral and aortic valve incompetence in endocardial fibroelastosis. Diagnostic and hemodynamic significance. (4265083)
1971
34
Primary endocardial fibroelastosis; a familial condition. (5491889)
1970
35
Ventricular endocardial fibroelastosis. Basis for its presence or absence in cases of pulmonic and aortic atresia. (5782440)
1969
36
Studies on the etiopathogenesis of cardiomyopathy with endocardial fibroelastosis. Histological changes in the heart of animals, induced by immunization with heart tissue homogenate and diptheria-tetanus-pertussis vaccine. (5407581)
1969
37
Primary endocardial fibroelastosis. (5958562)
1966
38
Sudden death due to endocardial fibroelastosis: a case report. (5967741)
1966
39
Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. (4224286)
1966
40
Generalized glycogenosis and associated endocardial fibroelastosis. Report of 3 cases with biochemical studies. (5215120)
1965
41
RELATIONSHIP OF MUMPS TO ENDOCARDIAL FIBROELASTOSIS: COMPLEMENT-FIXATION, HEMAGGLUTINATION-INHIBITION AND INTRADERMAL SKIN TESTS FOR MUMPS IN CHILDREN WITH AND WITHOUT ENDOCARDIAL FIBROELASTOSIS. (14218862)
1965
42
Endocardial fibroelastosis. (14438674)
1960
43
Primary endocardial fibroelastosis in two sisters. (13845331)
1960
44
Endocardial fibroelastosis in an adult: report of a case. (13666200)
1959
45
Primary endocardial fibroelastosis. (14413565)
1959
46
Hyperplastic infantile cardiomegaly; a form of idiopathic hypertrophy with or without endocardial fibroelastosis; and a comment on cardiac atrophy. (13559403)
1958
47
A case of endocardial fibroelastosis presenting as a foetal cardiac murmur. (13278803)
1955
48
Endocardial fibroelastosis: pathology and proposed pathogenesis. (13160750)
1954
49
Endocardial fibroelastosis. (13031402)
1953
50
The association of adult-type coarctation of the aorta with endocardial fibroelastosis in infancy. (13106584)
1953

Genetic Variations for Endocardial Fibroelastosis

Expression for genes affiliated with Endocardial Fibroelastosis

Sources:
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

Sources:
52QIAGEN
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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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Endocardial Fibroelastosis according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1mcat4510.0NPPB, MYH7
2hncs459.8NPPA, NPPB
3p00035459.8NPPA, NPPB
4candoxatril45 1110.8NPPB, NPPA
5alacepril459.7NPPB, NPPA
6imidapril459.7NPPB, NPPA
7urodilatin459.7NPPA, NPPB
8trandolapril45 1110.7NPPB, NPPA
9bisoprolol45 50 1111.7NPPB, NPPA
10hanp459.7NPPB, NPPA
11dobutamine45 29 1111.7NPPA, NPPB
12moxonidine459.7NPPB, NPPA
13fosinopril45 1110.7NPPB, NPPA
14enalaprilat459.7NPPB, NPPA
15lisinopril45 11 2411.7NPPA, NPPB
16nppb45 60 2911.7NPPB, NPPA
17metoprolol45 29 50 11 2413.7NPPB, NPPA
18mibg459.7NPPB, NPPA
19ramipril45 1110.7NPPA, NPPB
208-bromo cgmp459.7NPPA, NPPB
21perindopril45 50 1111.6NPPB, NPPA
22enalapril45 50 1111.6NPPA, NPPB
23amlodipine45 50 11 2412.6NPPB, NPPA
24spironolactone50 45 60 29 1113.6NPPB, NPPA
25phosphoramidon45 1110.6NPPA, NPPB
26carvedilol45 50 29 1112.6NPPA, NPPB
27sildenafil45 50 29 11 2413.6NPPA, NPPB
28spec-t459.6NPPB, NPPA
29s-nitroso-n-acetylpenicillamine459.5NPPA, NPPB
30nitroglycerin45 1110.5NPPA, NPPB
31digoxin45 50 60 11 2413.5NPPB, NPPA
32furosemide45 50 60 29 11 2414.4NPPB, NPPA
33captopril45 29 50 60 1113.4NPPB, NPPA
34ang ii459.3NPPB, NPPA
35lithium45 50 11 2412.3NPPA, NPPB
36phenylephrine45 29 11 2412.3MYH7, NPPA, NPPB
37isoproterenol45 1110.3MYH7, NPPA, NPPB
38ryanodine45 29 6011.2MYH7, NPPB
39l-nmma459.2NPPA, NPPB

GO Terms for genes affiliated with Endocardial Fibroelastosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Endocardial Fibroelastosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet