MCID: END020
MIFTS: 40

Endocardial Fibroelastosis malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Endocardial Fibroelastosis

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Aliases & Descriptions for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 10 45 22 47 12 36 24 65
 
Elastomyofibrosis 10

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:12929
ICD1027 I42.4
ICD9CM29 425.3
SNOMED-CT59 65457005
MeSH36 D004695
NCIt42 C98922
UMLS65 C0014117

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 hec syndrome and barth syndrome, and has symptoms including cognitive impairment, arrhythmia and abnormality of the helix. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin), and among its related pathways are Tight junction and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, thyroid and prostate.

Wikipedia:68 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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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 20)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 arrhythmia hallmark (90%) HP:0011675
3 abnormality of the helix hallmark (90%) HP:0011039
4 hypoglycemia hallmark (90%) HP:0001943
5 sandal gap hallmark (90%) HP:0001852
6 telecanthus hallmark (90%) HP:0000506
7 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
8 micrognathia hallmark (90%) HP:0000347
9 abnormality of the palate hallmark (90%) HP:0000174
10 hypoplasia of penis typical (50%) HP:0008736
11 seizures typical (50%) HP:0001250
12 anterior hypopituitarism typical (50%) HP:0000830
13 cryptorchidism typical (50%) HP:0000028
14 abnormality of the endocardium occasional (7.5%) HP:0004306
15 abnormal facial shape HP:0001999
16 endocardial fibroelastosis HP:0001706
17 cardiomyopathy HP:0001638
18 congestive heart failure HP:0001635
19 abnormality of the nervous system HP:0000707
20 cryptorchidism HP:0000028

Drugs & Therapeutics for Endocardial Fibroelastosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compactionCompletedNCT01470014

Search NIH Clinical Center for Endocardial Fibroelastosis


Cochrane evidence based reviews: 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 TAZ

Anatomical Context for Endocardial Fibroelastosis

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MalaCards organs/tissues related to Endocardial Fibroelastosis:

33
Heart, Thyroid, Prostate, Kidney, Breast, T cells, Skin

Animal Models for Endocardial Fibroelastosis or affiliated genes

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Publications for Endocardial Fibroelastosis

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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 298)
idTitleAuthorsYear
1
Distention of the Immature Left Ventricle Triggers Development of Endocardial Fibroelastosis: An Animal Model of Endocardial Fibroelastosis Introducing Morphopathological Features of Evolving Fetal Hypoplastic Left Heart Syndrome. (26064914)
2015
2
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
3
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. (24854131)
2014
4
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
5
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
6
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
7
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. (18442941)
2008
8
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
9
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
10
Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney. (11560361)
2000
11
The contracted type of endocardial fibroelastosis. (10198742)
1999
12
Endocardial fibroelastosis in growth-discordant monozygotic twins. (9724339)
1998
13
Combination of fatal digoxin poisoning with endocardial fibroelastosis. (9363630)
1997
14
Cardiac transplantation in a neonate with endocardial fibroelastosis. (15227396)
1990
15
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
16
Contracted form of primary endocardial fibroelastosis in a young adult without congestive heart failure. (3398240)
1988
17
Natural history and prognostic risk factors in endocardial fibroelastosis. (3414520)
1988
18
Fetal echocardiographic signs of congenital endocardial fibroelastosis. (2969084)
1988
19
Clinico-pathological study on primary endocardial fibroelastosis. (3144837)
1987
20
Inheritance of familial primary endocardial fibroelastosis. (3698448)
1986
21
Endocardial fibroelastosis and infantile polycystic disease. (4062721)
1985
22
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6732999)
1984
23
Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis. (6672782)
1983
24
Postnatal endocardial fibroelastosis of the valve of the foramen ovale. (6450531)
1981
25
Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia. (7417948)
1980
26
Case report. Fetal cardiac failure resulting from endocardial fibroelastosis. (4463269)
1974
27
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
28
The progression of interstitial myocarditis to idiopathic endocardial fibroelastosis. (5060581)
1972
29
Elastic fibers in endocardial fibroelastosis. (5079853)
1972
30
Endocardial fibroelastosis in children with special reference to the lesions of cardiac ganglia. (5573440)
1971
31
Endocardial fibroelastosis: family studies with special reference to counseling. (5567961)
1971
32
Ventricular endocardial fibroelastosis. Basis for its presence or absence in cases of pulmonic and aortic atresia. (5782440)
1969
33
Congenital endocardial fibroelastosis in the adult. (Autopsy and report of a case--review of the literature). (5738429)
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 pathwaysScoreTop Affiliating Genes
19.1ACTN2, MYH7
29.1MYH7, NPPB

GO Terms for genes affiliated with Endocardial Fibroelastosis

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Biological processes related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue developmentGO:00075199.4CSRP3, TAZ

Molecular functions related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletal protein bindingGO:000809210.0ACTN2, NEBL
2actin filament bindingGO:00510159.5ACTN2, NEBL

Sources for Endocardial Fibroelastosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet