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 Array, Array and Array. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin), and among its related pathways are Cardiac muscle contraction and Cardiomyocyte Differentiation through BMP Receptors. 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 top 50)    (show all 54)
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
14mosaic trisomy 110.0ACTN2, MYH7
15mucopolysaccharidosis type vi10.0
16congestive heart failure10.0
17heart disease10.0
18aneurysm10.0
19retinitis pigmentosa 1810.0ACTN2, MYH7
20macroglossia9.9MYH7, NPPB
21pericardium disease9.9MYH7, NPPB
22asthma9.8
23pick disease9.8
24cataract9.8
25chronic lymphocytic leukemia9.8
26hydrocephalus9.8
27leukemia9.8
28niemann-pick disease9.8
29thrombosis9.8
30sarcoma9.8
31pertussis9.8
32tetanus9.8
33tricuspid valve insufficiency9.8
34situs inversus9.8
35interstitial myocarditis9.8
36dextrocardia9.8
37hypoplastic right heart syndrome9.8
38transposition of the great arteries9.8
39sudden cardiac death9.8
40anoxia9.8
41hypoxia9.8
42multicystic dysplastic kidney9.8
43endotheliitis9.8
44critical limb ischemia9.8MYH7, NPPB
45malignant pineal area germ cell neoplasm9.8MYH7, NPPB
46ceroid lipofuscinosis, neuronal, kufs type, adult onset9.7MYH7, NPPB
47primary cutaneous gamma/delta-positive t-cell lymphoma9.7ACTN2, CSRP3, MYH7, TAZ
48pollen allergy9.7ACTN2, CSRP3, MYH7, TAZ
49xanthogranulomatous pyelonephritis9.7MYH7, NPPB, TAZ
50pervasive developmental disorder9.5CSRP3, MYH7, 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:

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 abnormality of the palate54 Very frequent (99-80%)
3 micrognathia54 Very frequent (99-80%)
4 low-set, posteriorly rotated ears54 Very frequent (99-80%)
5 telecanthus54 Very frequent (99-80%)
6 anterior hypopituitarism54 Frequent (79-30%)
7 seizures54 Frequent (79-30%)
8 congestive heart failure64 54 Very frequent (99-80%) HP:0001635
9 endocardial fibroelastosis64 54 Occasional (29-5%) HP:0001706
10 restrictive cardiomyopathy54 Very frequent (99-80%)
11 sandal gap54 Very frequent (99-80%)
12 hypoglycemia54 Very frequent (99-80%)
13 malformation of the heart and great vessels54 Very frequent (99-80%)
14 hypoplasia of penis54 Frequent (79-30%)
15 abnormality of the helix54 Very frequent (99-80%)
16 cognitive impairment54 Very frequent (99-80%)
17 abnormality of the nervous system64 HP:0000707
18 cardiomyopathy64 HP:0001638
19 abnormal facial shape64 HP:0001999

Drugs & Therapeutics for Endocardial Fibroelastosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left VentricleNot yet recruitingNCT03079401Phase 1, Phase 2
2Cardiac 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 299)
idTitleAuthorsYear
1
Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis. (28148333)
2016
2
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. (27472683)
2016
3
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. (25585372)
2015
4
A mouse model of endocardial fibroelastosis. (26363814)
2015
5
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. (25587097)
2015
6
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
7
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. (25517884)
2014
8
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. (24854131)
2014
9
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
10
An animal model of endocardial fibroelastosis. (22938709)
2013
11
Endocardial fibroelastosis in a quarterhorse mare. (23651694)
2013
12
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. (24347859)
2013
13
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. (23518027)
2013
14
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
15
Endocardial fibroelastosis of the heart. (22217671)
2012
16
Primary endocardial fibroelastosis of the left ventricle. (23304055)
2012
17
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. (23109789)
2012
18
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. (21484220)
2011
19
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
20
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
21
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
22
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. (20529397)
2010
23
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. (20683992)
2010
24
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. (20951326)
2010
25
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. (20395675)
2010
26
Changing concepts of endocardial fibroelastosis. (20346203)
2010
27
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
28
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. (21126622)
2010
29
Endocardial fibroelastosis in a 57-year-old transplant recipient. (20421963)
2010
30
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. (19752510)
2009
31
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. (19667241)
2009
32
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. (18826986)
2009
33
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. (19090488)
2009
34
MR findings of endocardial fibroelastosis in children. (18172637)
2008
35
Endocardial fibroelastosis demonstrated on multidetector computed tomography. (17363092)
2008
36
Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. (19099859)
2008
37
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. (18442941)
2008
38
Assessment of endocardial fibroelastosis by cardiac MRI. (18464952)
2008
39
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. (18265543)
2007
40
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. (17346634)
2007
41
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. (17019812)
2006
42
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. (16797345)
2006
43
Early prenatal diagnosis of endocardial fibroelastosis. (15988785)
2005
44
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
45
Usefulness of magnetic resonance imaging of left ventricular endocardial fibroelastosis in infants after fetal intervention for aortic valve stenosis. (16310442)
2005
46
Cardiovascular magnetic resonance in endocardial fibroelastosis. (15881519)
2005
47
Electron beam computed tomography appearance of endocardial fibroelastosis EBCT appearance of endocardial fibroelastosis. (12602486)
2003
48
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. (14567970)
2003
49
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. (12204513)
2002
50
Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis. (11854125)
2002

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
19.3MT-CYB, MYH7
29.0MYH7, 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:00300179.5ACTN2, CSRP3, 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
1cytoskeletal protein bindingGO:000809210.1ACTN2, NEBL
2structural constituent of muscleGO:00083079.1ACTN2, CSRP3, NEBL
3actin bindingGO:00037799.0ACTN2, CSRP3, MYH7, 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