MCID: END020
MIFTS: 43

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, breast 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, Breast, Prostate, Thyroid, Testes, B cells, T cells

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 297)
idTitleAuthorsYear
1
The potential of neurotensin secreted from neuroendocrine tumor cells to promote gelsolin-mediated invasiveness of prostate adenocarcinoma cells. (25581609)
2015
2
The Natural History of Antisocial Personality Disorder. (26175389)
2015
3
Sensory-motor integration in focal dystonia. (26164472)
2015
4
Stent Thrombosis is the Primary Cause of ST-Segment Elevation Myocardial Infarction following Coronary Stent Implantation: A Five Year Follow-Up of the SORT OUT II Study. (25409336)
2014
5
-174G/C polymorphism in the interleukin-6 promoter is differently associated with prostate cancer incidence depending on race. (24446297)
2014
6
23- vs 20-gauge pars plana vitrectomy in combination with bimanual microincisional cataract surgery (b-MICS) for the treatment of macular hole and cataract as a one-step procedure. (23743530)
2013
7
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (23192594)
2013
8
A case of intravenous leiomyomatosis of uterine origin, extending through the inferior vena cava to right atrium. (22627954)
2013
9
Evidence from a breast cancer hypofractionated schedule: late skin toxicity assessed by ultrasound. (24423027)
2013
10
PKA negatively regulates PP2CI^ to activate NF-I_B-mediated inflammatory signaling. (23756813)
2013
11
Herpes simplex virus 1 tropism for human sensory ganglion neurons in the severe combined immunodeficiency mouse model of neuropathogenesis. (23269807)
2013
12
Lymphoepithelioma-like carcinoma of the breast: cytological and histological features and review of the literature. (22236751)
2012
13
Paraneoplastic thrombocytosis in ovarian cancer. (22335738)
2012
14
Dysmorphic photoreceptors in a P23H mutant rhodopsin model of retinitis pigmentosa are metabolically active and capable of regenerating to reverse retinal degeneration. (22323724)
2012
15
Helicobacter pylori infection and peptic ulcer in eastern Turkish children: is it more common than known? (22389985)
2011
16
Clinical resistance to vicriviroc through adaptive V3 loop mutations in HIV-1 subtype D gp120 that alter interactions with the N-terminus and ECL2 of CCR5. (20172579)
2010
17
Transient receptor potential canonical type 3 channels and blood pressure in humans. (19417689)
2009
18
Mitochondria-targeted chemotherapeutics: the rational design of gold(I) N-heterocyclic carbene complexes that are selectively toxic to cancer cells and target protein selenols in preference to thiols. (18729360)
2008
19
Dietary vitamin B6 intake and the risk of colorectal cancer. (18199722)
2008
20
Increased expression of vascular endothelial growth factor in kidney leads to progressive impairment of glomerular functions. (17554151)
2007
21
Trans geometric isomers of EPA decrease LXRalpha-induced cellular triacylglycerol via suppression of SREBP-1c and PGC-1beta. (17005995)
2006
22
The protein kinase C pathway acts through multiple transcription factors to repress gonadotropin-releasing hormone gene expression in hypothalamic GT1-7 neuronal cells. (15994198)
2005
23
Downregulation of prostaglandin E receptor subtype EP3 during colon cancer development. (15247185)
2004
24
Structure and physical properties of yogurt gels: effect of inoculation rate and incubation temperature. (15377593)
2004
25
Expression of glutamate transporter subtypes in cultured retinal pigment epithelial and retinoblastoma cells. (14977517)
2004
26
Proguanylin secretion and the role of negative-feedback inhibition in a villous epithelial cell line. (12181185)
2002
27
Trans-differentiation of prostatic stromal cells leads to decreased glycoprotein hormone alpha production. (12414905)
2002
28
Dietary isothiocyanates, glutathione S-transferase polymorphisms and colorectal cancer risk in the Singapore Chinese Health Study. (12507929)
2002
29
Methylene blue improves the hepatopulmonary syndrome. (11529704)
2001
30
P53 overexpression predicts endometrial carcinoma recurrence better than HER-2/neu overexpression. (11516808)
2001
31
Proinflammatory cytokines (IL-6, IL-8), cytokine inhibitors (IL-6sR, sTNFRII) and anti-inflammatory cytokines (IL-10, IL-13) in the pathogenesis of sepsis in newborns and infants. (11798138)
2001
32
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. (10220145)
1999
33
Vitamin D receptor gene polymorphism in patients with sarcoidosis. (10508794)
1999
34
Dihydroorotate dehydrogenase. Profile of a novel target for antiproliferative and immunosuppressive drugs. (9598119)
1998
35
Comparison of the effects of AcSDKP, thymosin beta4, macrophage inflammatory protein 1alpha and transforming growth factor beta on human leukemic cells. (9477130)
1997
36
A comparative study of vascular endothelial growth factor levels in the vitreous of patients with proliferative diabetic retinopathy]. (10451953)
1997
37
Immunocytochemical evidence for differential subcellular localization of 5 alpha-reductase isoenzymes in human tissues. (9078395)
1996
38
In vivo demonstration in humans that large postprandial triglyceride-rich lipoproteins activate coagulation factor VII through the intrinsic coagulation pathway. (8911271)
1996
39
Intensive vascular training in stage IIb of peripheral arterial occlusive disease. The additive effects of intravenous prostaglandin E1 or intravenous pentoxifylline during training. (8044953)
1994
40
Idiopathic granulomatous mastitis. Report of a case clinically and mammographically simulating breast carcinoma. (7936770)
1994
41
Dopamine beta-hydroxylase immunoreactivity in human cerebrospinal fluid: properties, relationship to central noradrenergic neuronal activity and variation in Parkinson's disease and congenital dopamine beta-hydroxylase deficiency. (8143425)
1994
42
Nocardiosis after corticosteroid therapy for malignant thymoma. (8448739)
1993
43
Impaired long-term potentiation, spatial learning, and hippocampal development in fyn mutant mice. (1361685)
1992
44
Possible involvement of calpain in down-regulation of protein kinase C. (2119652)
1990
45
Field evaluation of Cellognost indirect haemagglutination test in the diagnosis of human trypanosomiasis (sleeping sickness) in Kura local government area of Kano State, Nigeria. (2862781)
1985
46
Of heliotropes and hemorrhoids. St. Fiacre, patron saint of gardeners and hemorrhoid sufferers. (3902408)
1985
47
Blood-brain transfer of galactose in experimental galactosemia, with special reference to the competitive interaction between galactose and glucose. (6491672)
1984
48
Immune response to human keratoacanthoma. (394758)
1979
49
Juvenile cirrhosis and membranous glomerulonephritis in a child with alpha1-antitrypsin deficiency PiSZ. (309702)
1978
50
Right bundle-branch block associated with left superior or inferior intraventricular block associated with acute myocardial infarction. (5492544)
1970

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