MCID: END020
MIFTS: 44

Endocardial Fibroelastosis malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Endocardial Fibroelastosis

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 52 11 48 24 27 50 39 13 68
Endomyocardial Fibroelastosis 54
 
Elastomyofibrosis 11

Characteristics:

Orphanet epidemiological data:

54
endomyocardial fibroelastosis:
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal

HPO:

64
endocardial fibroelastosis:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 226000
Disease Ontology11 DOID:12929
ICD1030 I42.4
ICD9CM32 425.3
MeSH39 D004695
SNOMED-CT62 65457005
NCIt45 C98922
Orphanet54 ORPHA2022
UMLS via Orphanet69 C0014117
ICD10 via Orphanet31 I42.4

Summaries for Endocardial Fibroelastosis

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Disease Ontology:11 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 endomyocardial fibroelastosis, is related to hydrocephalus, endocardial fibroelastosis, and cataracts and barth syndrome, and has symptoms including abnormality of the palate, micrognathia and low-set, posteriorly rotated ears. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin), and among its related pathways are Tight junction and Cardiac muscle contraction. Affiliated tissues include heart, skin and kidney.

Wikipedia:71 Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old... more...

Description from OMIM:52 226000

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hydrocephalus, endocardial fibroelastosis, and cataracts12.5
2barth syndrome11.9
3endomyocardial fibroelastosis11.1
4cardiomyopathy10.4
5mumps10.3
6dilated cardiomyopathy10.3
7myocardial infarction10.1
8pulmonary hypertension10.1
9hypoplastic left heart syndrome10.1
10atrioventricular block10.1
11mucopolysaccharidosis10.1
12myocarditis10.1
13hydrops fetalis10.1
14mucopolysaccharidosis type vi10.0
15congestive heart failure10.0
16heart disease10.0
17aneurysm10.0
18atrial standstill, digenic9.9ACTN2, MYH7
19asthma9.8
20pick disease9.8
21cataract9.8
22chronic lymphocytic leukemia9.8
23hydrocephalus9.8
24leukemia9.8
25niemann-pick disease9.8
26sarcoma9.8
27pertussis9.8
28tetanus9.8
29tricuspid valve insufficiency9.8
30interstitial myocarditis9.8
31dextrocardia9.8
32hypoplastic right heart syndrome9.8
33transposition of the great arteries9.8
34sudden cardiac death9.8
35anoxia9.8
36hypoxia9.8
37multicystic dysplastic kidney9.8
38endotheliitis9.8
39cardiomyopathy, hypertrophic 69.6MT-CYB, MYH7
40autoimmune disease of skin and connective tissue9.6CSRP3, MYH7, TAZ
41macroglossia9.6MYH7, NPPB
42pericardium disease9.5MYH7, NPPB
43ulceroglandular tularemia9.5ACTN2, CSRP3, MYH7
44craniosynostosis9.5MYH7, NPPB
45ectodermal dysplasia9.4CSRP3, MYH7, TAZ
46longitudinal vaginal septum9.2ACTN2, CSRP3, MYH7, TAZ
47chicken egg allergy9.2ACTN2, CSRP3, MYH7, TAZ
48melanotic neuroectodermal tumor9.2MYH7, NPPB
49cardiovascular disease risk factor )8.7ACTN2, CSRP3, MT-CYB, MYH7, TAZ
50cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome8.2ACTN2, CSRP3, MYH7, NEBL, NPPB, TAZ

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



Diseases related to endocardial fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

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Symptoms by clinical synopsis from OMIM:

226000

Clinical features from OMIM:

226000

Human phenotypes related to Endocardial Fibroelastosis:

 64 54 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate64 54 hallmark (90%) Very frequent (99-80%) HP:0000174
2 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
3 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
4 telecanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000506
5 sandal gap64 54 hallmark (90%) Very frequent (99-80%) HP:0001852
6 hypoglycemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001943
7 abnormality of the helix64 54 hallmark (90%) Very frequent (99-80%) HP:0011039
8 arrhythmia64 hallmark (90%) HP:0011675
9 cognitive impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0100543
10 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
11 anterior hypopituitarism64 54 typical (50%) Frequent (79-30%) HP:0000830
12 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
13 hypoplasia of penis64 54 typical (50%) Frequent (79-30%) HP:0008736
14 abnormality of the endocardium64 occasional (7.5%) HP:0004306
15 abnormality of the nervous system64 HP:0000707
16 congestive heart failure64 54 Very frequent (99-80%) HP:0001635
17 cardiomyopathy64 HP:0001638
18 endocardial fibroelastosis64 54 Occasional (29-5%) HP:0001706
19 abnormal facial shape64 HP:0001999
20 restrictive cardiomyopathy54 Very frequent (99-80%)
21 malformation of the heart and great vessels54 Very frequent (99-80%)

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 Fibroelastosis27 24 TAZ

Anatomical Context for Endocardial Fibroelastosis

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MalaCards organs/tissues related to Endocardial Fibroelastosis:

36
Heart, Skin, Kidney, Endothelial, Testes

Publications for Endocardial Fibroelastosis

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Articles related to Endocardial Fibroelastosis:

(show top 50)    (show all 298)
idTitleAuthorsYear
1
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. (27472683)
2016
2
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
3
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. (25585372)
2015
4
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. (25587097)
2015
5
A mouse model of endocardial fibroelastosis. (26363814)
2015
6
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. (25517884)
2014
7
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
8
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. (24854131)
2014
9
An animal model of endocardial fibroelastosis. (22938709)
2013
10
Endocardial fibroelastosis in a quarterhorse mare. (23651694)
2013
11
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. (24347859)
2013
12
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. (23518027)
2013
13
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
14
Primary endocardial fibroelastosis of the left ventricle. (23304055)
2012
15
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. (23109789)
2012
16
Endocardial fibroelastosis of the heart. (22217671)
2012
17
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
18
A new presentation of neonatal lupus: 5 cases of isolated mild endocardial fibroelastosis associated with maternal Anti-SSA/Ro and Anti-SSB/La antibodies. (21078712)
2011
19
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. (21484220)
2011
20
Ross-Konno and endocardial fibroelastosis resection after hybrid stage I palliation in infancy: successful staged left-ventricular rehabilitation and conversion to biventricular circulation after fetal diagnosis of aortic stenosis. (21107553)
2011
21
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
22
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. (20951326)
2010
23
Changing concepts of endocardial fibroelastosis. (20346203)
2010
24
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. (20395675)
2010
25
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. (20529397)
2010
26
Endocardial fibroelastosis in a 57-year-old transplant recipient. (20421963)
2010
27
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. (21126622)
2010
28
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. (20683992)
2010
29
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. (19090488)
2009
30
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. (19667241)
2009
31
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. (18826986)
2009
32
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. (19752510)
2009
33
Assessment of endocardial fibroelastosis by cardiac MRI. (18464952)
2008
34
MR findings of endocardial fibroelastosis in children. (18172637)
2008
35
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. (18442941)
2008
36
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
37
Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. (19099859)
2008
38
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. (18265543)
2007
39
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. (17346634)
2007
40
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. (17019812)
2006
41
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
42
Fetal Doppler echocardiographic diagnosis and successful steroid therapy of Luciani-Wenckebach phenomenon and endocardial fibroelastosis related to maternal anti-Ro and anti-La antibodies. (15846168)
2005
43
Cardiovascular magnetic resonance in endocardial fibroelastosis. (15881519)
2005
44
Usefulness of magnetic resonance imaging of left ventricular endocardial fibroelastosis in infants after fetal intervention for aortic valve stenosis. (16310442)
2005
45
Early prenatal diagnosis of endocardial fibroelastosis. (15988785)
2005
46
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. (14567970)
2003
47
Electron beam computed tomography appearance of endocardial fibroelastosis EBCT appearance of endocardial fibroelastosis. (12602486)
2003
48
Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis. (11854125)
2002
49
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. (12204513)
2002
50
Doppler fetal echocardiography in endocardial fibroelastosis. (11704210)
2001

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
19.4ACTN2, MYH7
29.3MT-CYB, MYH7
39.0MYH7, NPPB

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:000172510.0MYH7, NEBL
2sarcomereGO:003001710.0ACTN2, MYH7
3Z discGO:00300188.5ACTN2, CSRP3, MYH7, NEBL

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:004873810.2CSRP3, TAZ
2muscle filament slidingGO:00300499.9ACTN2, MYH7
3regulation of the force of heart contractionGO:00020269.8CSRP3, MYH7
4skeletal muscle tissue developmentGO:00075199.6CSRP3, TAZ
5cardiac muscle contractionGO:00600489.6CSRP3, MYH7, TAZ
6muscle contractionGO:00069369.6ACTN2, MYH7, TAZ

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:005101510.1ACTN2, NEBL
2cytoskeletal protein bindingGO:000809210.0ACTN2, NEBL
3structural constituent of muscleGO:00083079.1ACTN2, CSRP3, NEBL

Sources for Endocardial Fibroelastosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet