MCID: END020
MIFTS: 44

Endocardial Fibroelastosis malady

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Endocardial Fibroelastosis

Aliases & Descriptions for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 54 12 50 24 29 52 42 14 69
Endomyocardial Fibroelastosis 56
Elastomyofibrosis 12

Characteristics:

Orphanet epidemiological data:

56
endomyocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

HPO:

32
endocardial fibroelastosis:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 226000
Disease Ontology 12 DOID:12929
ICD10 33 I42.4
ICD9CM 35 425.3
MeSH 42 D004695
NCIt 47 C98922
SNOMED-CT 64 65457005
Orphanet 56 ORPHA2022
UMLS via Orphanet 70 C0014117
ICD10 via Orphanet 34 I42.4
UMLS 69 C0014117

Summaries for Endocardial Fibroelastosis

Disease Ontology : 12 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 congestive heart failure, cryptorchidism and seizures. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin), and among its related pathways/superpathways 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: 226000

Related Diseases for Endocardial Fibroelastosis

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 hydrocephalus, endocardial fibroelastosis, and cataracts 12.5
2 barth syndrome 11.9
3 endomyocardial fibroelastosis 11.1
4 cardiomyopathy 10.4
5 mumps 10.3
6 dilated cardiomyopathy 10.3
7 myocardial infarction 10.1
8 hypoplastic left heart syndrome 10.1
9 hydrops fetalis 10.1
10 atrioventricular block 10.1
11 pulmonary hypertension 10.1
12 mucopolysaccharidosis 10.1
13 myocarditis 10.1
14 mosaic trisomy 1 10.0 ACTN2 MYH7
15 mucopolysaccharidosis type vi 10.0
16 aneurysm 10.0
17 heart disease 10.0
18 congestive heart failure 10.0
19 retinitis pigmentosa 18 10.0 ACTN2 MYH7
20 macroglossia 9.9 MYH7 NPPB
21 pericardium disease 9.9 MYH7 NPPB
22 hydrocephalus 9.8
23 dextrocardia 9.8
24 leukemia 9.8
25 niemann-pick disease 9.8
26 hypoplastic right heart syndrome 9.8
27 transposition of the great arteries 9.8
28 thrombosis 9.8
29 asthma 9.8
30 sudden cardiac death 9.8
31 sarcoma 9.8
32 pick disease 9.8
33 pertussis 9.8
34 anoxia 9.8
35 tetanus 9.8
36 hypoxia 9.8
37 multicystic dysplastic kidney 9.8
38 endotheliitis 9.8
39 cataract 9.8
40 tricuspid valve insufficiency 9.8
41 chronic lymphocytic leukemia 9.8
42 situs inversus 9.8
43 interstitial myocarditis 9.8
44 critical limb ischemia 9.8 MYH7 NPPB
45 malignant pineal area germ cell neoplasm 9.8 MYH7 NPPB
46 ceroid lipofuscinosis, neuronal, kufs type, adult onset 9.7 MYH7 NPPB
47 primary cutaneous gamma/delta-positive t-cell lymphoma 9.7 ACTN2 CSRP3 MYH7 TAZ
48 pollen allergy 9.7 ACTN2 CSRP3 MYH7 TAZ
49 xanthogranulomatous pyelonephritis 9.7 MYH7 NPPB TAZ
50 pervasive developmental disorder 9.5 CSRP3 MYH7 NPPB TAZ

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



Diseases related to Endocardial Fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

Symptoms by clinical synopsis from OMIM:

226000

Clinical features from OMIM:

226000

Human phenotypes related to Endocardial Fibroelastosis:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 56 32 Very frequent (99-80%) HP:0001635
2 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
3 endocardial fibroelastosis 56 32 Occasional (29-5%) HP:0001706
4 seizures 56 Frequent (79-30%)
5 abnormality of the helix 56 Very frequent (99-80%)
6 abnormal facial shape 32 HP:0001999
7 cognitive impairment 56 Very frequent (99-80%)
8 hypoglycemia 56 Very frequent (99-80%)
9 micrognathia 56 Very frequent (99-80%)
10 malformation of the heart and great vessels 56 Very frequent (99-80%)
11 cardiomyopathy 32 HP:0001638
12 anterior hypopituitarism 56 Frequent (79-30%)
13 telecanthus 56 Very frequent (99-80%)
14 low-set, posteriorly rotated ears 56 Very frequent (99-80%)
15 sandal gap 56 Very frequent (99-80%)
16 abnormality of the nervous system 32 HP:0000707
17 hypoplasia of penis 56 Frequent (79-30%)
18 abnormality of the palate 56 Very frequent (99-80%)
19 restrictive cardiomyopathy 56 Very frequent (99-80%)

Drugs & Therapeutics for Endocardial Fibroelastosis

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
2 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014

Search NIH Clinical Center for Endocardial Fibroelastosis

Cochrane evidence based reviews: endocardial fibroelastosis

Genetic Tests for Endocardial Fibroelastosis

Genetic tests related to Endocardial Fibroelastosis:

id Genetic test Affiliating Genes
1 Endocardial Fibroelastosis 29 24 TAZ

Anatomical Context for Endocardial Fibroelastosis

MalaCards organs/tissues related to Endocardial Fibroelastosis:

39
Heart, Skin, Kidney, Testes, Endothelial

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 299)
id Title Authors Year
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

Expression for Endocardial Fibroelastosis

Search GEO for disease gene expression data for Endocardial Fibroelastosis.

Pathways for Endocardial Fibroelastosis

Pathways related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.85 MT-CYB MYH7
2 9.97 MYH7 NPPB

GO Terms for Endocardial Fibroelastosis

Cellular components related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.16 MYH7 NEBL
2 sarcomere GO:0030017 9.13 ACTN2 CSRP3 MYH7
3 Z disc GO:0030018 8.92 ACTN2 CSRP3 MYH7 NEBL

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

id Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue development GO:0007519 9.37 CSRP3 TAZ
2 muscle filament sliding GO:0030049 9.32 ACTN2 MYH7
3 cardiac muscle tissue development GO:0048738 9.26 CSRP3 TAZ
4 regulation of the force of heart contraction GO:0002026 9.16 CSRP3 MYH7
5 muscle contraction GO:0006936 9.13 ACTN2 MYH7 TAZ
6 cardiac muscle contraction GO:0060048 8.8 CSRP3 MYH7 TAZ

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

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 ACTN2 CSRP3 MYH7 NEBL
2 cytoskeletal protein binding GO:0008092 9.16 ACTN2 NEBL
3 structural constituent of muscle GO:0008307 8.8 ACTN2 CSRP3 NEBL

Sources for Endocardial Fibroelastosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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