EFE
MCID: END020
MIFTS: 47

Endocardial Fibroelastosis (EFE)

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Endocardial Fibroelastosis

MalaCards integrated aliases for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 57 12 76 53 29 55 6 44 15 73
Endomyocardial Fibroelastosis 59
Elastomyofibrosis 12
Efe 57

Characteristics:

Orphanet epidemiological data:

59
endomyocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
heterogeneous


HPO:

32
endocardial fibroelastosis:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226000
Disease Ontology 12 DOID:12929
ICD10 33 I42.4
ICD9CM 35 425.3
MeSH 44 D004695
NCIt 50 C98922
SNOMED-CT 68 65457005
Orphanet 59 ORPHA2022
UMLS via Orphanet 74 C0014117
ICD10 via Orphanet 34 I42.4
MedGen 42 C0014117
UMLS 73 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 atrial standstill 1 and dilated cardiomyopathy. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin). The drugs Cabergoline and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related phenotypes are congestive heart failure and cryptorchidism

Wikipedia : 76 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 113)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.8 ACTN2 CSRP3 MYH7 TAZ
2 dilated cardiomyopathy 29.7 ACTN2 CSRP3 MYH7 NEBL TAZ
3 hydrocephalus, endocardial fibroelastosis, and cataracts 12.8
4 ulnar agenesis and endocardial fibroelastosis 12.5
5 endocardial fibroelastosis and coarctation of abdominal aorta 12.3
6 endomyocardial fibroelastosis 11.7
7 barth syndrome 11.6
8 faciocardiorenal syndrome 11.3
9 cardiomyopathy, infantile histiocytoid 11.3
10 arterial calcification of infancy 11.3
11 eosinophilic fasciitis 11.1
12 fetal erythroblastosis 11.1
13 peripartum cardiomyopathy 11.0
14 eosinophilic pustular folliculitis 11.0
15 polycystic kidney disease 10.6
16 mumps 10.5
17 hypoplastic left heart syndrome 1 10.4
18 hypoplastic left heart syndrome 10.4
19 aortic valve disease 2 10.3
20 myocarditis 10.3
21 myocardial infarction 10.3
22 hydrops fetalis, nonimmune, and/or atrial septal defect 10.3
23 pulmonary hypertension 10.3
24 atrioventricular block 10.3
25 fetal edema 10.3
26 hydrops fetalis 10.3
27 mucopolysaccharidosis, type vi 10.2
28 congestive heart failure 10.2
29 heart disease 10.2
30 viral infectious disease 10.2
31 colorectal adenoma 10.2
32 chronic interstitial cystitis 10.2
33 endometriosis 10.2
34 epilepsy 10.1
35 leukemia, chronic lymphocytic 2 10.0
36 cardiac conduction defect 10.0
37 leukemia, chronic lymphocytic 10.0
38 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.0
39 heart block, congenital 10.0
40 asthma 10.0
41 renal dysplasia, cystic 10.0
42 hydrocephalus 10.0
43 leukemia 10.0
44 niemann-pick disease 10.0
45 anomalous left coronary artery from the pulmonary artery 10.0
46 thrombosis 10.0
47 hypoplastic right heart syndrome 10.0
48 lymphocytic leukemia 10.0
49 sarcoma 10.0
50 pertussis 10.0

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



Diseases related to Endocardial Fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
congestive heart failure
cardiomyopathy
endocardial fibroelastosis

Neuro:
hypothalamic dysfunction

G U:
cryptorchidism

H E E N T:
unusual facial appearance


Clinical features from OMIM:

226000

Human phenotypes related to Endocardial Fibroelastosis:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 59 32 Very frequent (99-80%) HP:0001635
2 cryptorchidism 59 32 Frequent (79-30%) HP:0000028
3 endocardial fibroelastosis 59 32 Occasional (29-5%) HP:0001706
4 seizures 59 Frequent (79-30%)
5 abnormality of the helix 59 Very frequent (99-80%)
6 abnormal facial shape 32 HP:0001999
7 cognitive impairment 59 Very frequent (99-80%)
8 hypoglycemia 59 Very frequent (99-80%)
9 micrognathia 59 Very frequent (99-80%)
10 malformation of the heart and great vessels 59 Very frequent (99-80%)
11 cardiomyopathy 32 HP:0001638
12 anterior hypopituitarism 59 Frequent (79-30%)
13 telecanthus 59 Very frequent (99-80%)
14 low-set, posteriorly rotated ears 59 Very frequent (99-80%)
15 sandal gap 59 Very frequent (99-80%)
16 abnormality of the nervous system 32 HP:0000707
17 hypoplasia of penis 59 Frequent (79-30%)
18 abnormality of the palate 59 Very frequent (99-80%)
19 restrictive cardiomyopathy 59 Very frequent (99-80%)

Drugs & Therapeutics for Endocardial Fibroelastosis

Drugs for Endocardial Fibroelastosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cabergoline Approved 81409-90-7 54746
2
Dopamine Approved 51-61-6, 62-31-7 681
3
Levodopa Approved 59-92-7 6047
4 Dopamine Agents
5 Peripheral Nervous System Agents
6 Sympathomimetics
7 Dopamine agonists
8 Cardiotonic Agents
9 Protective Agents
10 Autonomic Agents
11 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
2 The Association Between Dopamine Agonists and Cardiac Valvulopathy, Fibrosis and Other Cardiopulmonary Events Completed NCT01052948
3 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:

# Genetic test Affiliating Genes
1 Endocardial Fibroelastosis 29

Anatomical Context for Endocardial Fibroelastosis

MalaCards organs/tissues related to Endocardial Fibroelastosis:

41
Heart, Kidney, Lung, Liver, Breast, Prostate, T Cells

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 318)
# Title Authors Year
1
Concurrent occurrence of acute bovine pulmonary edema and emphysema and endocardial fibroelastosis in cattle: A case history and literature review. ( 30147268 )
2018
2
Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series. ( 28614263 )
2017
3
Endocardial fibroelastosis in two related tiger cubs (Panthera tigris). ( 29289677 )
2017
4
Fibroblasts in an endocardial fibroelastosis disease model mainly originate from mesenchymal derivatives of epicardium. ( 28809397 )
2017
5
Endocardial Fibroelastosis is Secondary to Hemodynamic Alterations in the Chick Embryonic Model of Hypoplastic Left Heart Syndrome. ( 28543854 )
2017
6
Endocardial Fibroelastosis of the Left Ventricle Affects Right Ventricular Performance in Fetuses with Hypoplastic Left Heart Syndrome: A Prospective Study Using M-Mode, PW- and Tissue Doppler Techniques. ( 28683514 )
2017
7
Surgical management of adult endocardial fibroelastosis. ( 28668457 )
2017
8
Peeling the left ventricle as treatment for endocardial fibroelastosis: An exceptional surgical procedure in adults. ( 28732708 )
2017
9
Multimodality Imaging and Pathologic Assessment in an Adult with Endocardial Fibroelastosis. ( 30062275 )
2017
10
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. ( 27472683 )
2016
11
Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis. ( 28148333 )
2016
12
A mouse model of endocardial fibroelastosis. ( 26363814 )
2015
13
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. ( 25585372 )
2015
14
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. ( 25587097 )
2015
15
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
16
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
17
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. ( 25517884 )
2014
18
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. ( 24854131 )
2014
19
Endocardial fibroelastosis in a quarterhorse mare. ( 23651694 )
2013
20
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. ( 24347859 )
2013
21
An animal model of endocardial fibroelastosis. ( 22938709 )
2013
22
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. ( 23518027 )
2013
23
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. ( 23109776 )
2012
24
Endocardial fibroelastosis of the heart. ( 22217671 )
2012
25
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. ( 23109789 )
2012
26
Primary endocardial fibroelastosis of the left ventricle. ( 23304055 )
2012
27
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
28
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. ( 21484220 )
2011
29
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
30
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. ( 21436591 )
2011
31
Changing concepts of endocardial fibroelastosis. ( 20346203 )
2010
32
Endocardial fibroelastosis in a 57-year-old transplant recipient. ( 20421963 )
2010
33
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. ( 20951326 )
2010
34
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. ( 20202032 )
2010
35
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. ( 20529397 )
2010
36
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. ( 20395675 )
2010
37
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. ( 20683992 )
2010
38
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. ( 21126622 )
2010
39
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. ( 19090488 )
2009
40
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. ( 19667241 )
2009
41
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. ( 19752510 )
2009
42
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. ( 18826986 )
2009
43
MR findings of endocardial fibroelastosis in children. ( 18172637 )
2008
44
Assessment of endocardial fibroelastosis by cardiac MRI. ( 18464952 )
2008
45
[Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. ( 19099859 )
2008
46
Endocardial fibroelastosis demonstrated on multidetector computed tomography. ( 17363092 )
2008
47
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. ( 18442941 )
2008
48
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. ( 18265543 )
2007
49
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. ( 17346634 )
2007
50
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. ( 16797345 )
2006

Variations for Endocardial Fibroelastosis

ClinVar genetic disease variations for Endocardial Fibroelastosis:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh37 Chromosome X, 153642450: 153642450
2 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh38 Chromosome X, 154414113: 154414113
3 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh37 Chromosome X, 153647956: 153647956
4 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh38 Chromosome X, 154419617: 154419617
5 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh37 Chromosome X, 153649337: 153649337
6 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh38 Chromosome X, 154420998: 154420998
7 TAZ NM_000116.4(TAZ): c.*560G> A single nucleotide variant Likely benign rs782808430 GRCh37 Chromosome X, 153649903: 153649903
8 TAZ NM_000116.4(TAZ): c.*560G> A single nucleotide variant Likely benign rs782808430 GRCh38 Chromosome X, 154421564: 154421564
9 TAZ NM_000116.3(TAZ): c.-120delT deletion Benign GRCh37 Chromosome X, 153640061: 153640061
10 TAZ NM_000116.4(TAZ): c.504G> A (p.Lys168=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515818 GRCh37 Chromosome X, 153647925: 153647925
11 TAZ NM_000116.4(TAZ): c.504G> A (p.Lys168=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515818 GRCh38 Chromosome X, 154419586: 154419586
12 TAZ NM_000116.4(TAZ): c.675G> A (p.Pro225=) single nucleotide variant Benign/Likely benign rs201046790 GRCh37 Chromosome X, 153648579: 153648579
13 TAZ NM_000116.4(TAZ): c.675G> A (p.Pro225=) single nucleotide variant Benign/Likely benign rs201046790 GRCh38 Chromosome X, 154420240: 154420240
14 TAZ NM_000116.4(TAZ): c.*396C> T single nucleotide variant Likely benign rs144283894 GRCh37 Chromosome X, 153649739: 153649739
15 TAZ NM_000116.4(TAZ): c.*396C> T single nucleotide variant Likely benign rs144283894 GRCh38 Chromosome X, 154421400: 154421400
16 TAZ NM_000116.4(TAZ): c.-88G> C single nucleotide variant Likely benign rs113130344 GRCh37 Chromosome X, 153640093: 153640093
17 TAZ NM_000116.4(TAZ): c.-88G> C single nucleotide variant Likely benign rs113130344 GRCh38 Chromosome X, 154411756: 154411756
18 TAZ NM_000116.4(TAZ): c.*387C> T single nucleotide variant Uncertain significance rs1057515819 GRCh37 Chromosome X, 153649730: 153649730
19 TAZ NM_000116.4(TAZ): c.*387C> T single nucleotide variant Uncertain significance rs1057515819 GRCh38 Chromosome X, 154421391: 154421391
20 TAZ NM_000116.4(TAZ): c.*470C= single nucleotide variant Benign rs743547 GRCh37 Chromosome X, 153649813: 153649813
21 TAZ NM_000116.4(TAZ): c.*470C= single nucleotide variant Benign rs743547 GRCh38 Chromosome X, 154421474: 154421474

Expression for Endocardial Fibroelastosis

Search GEO for disease gene expression data for Endocardial Fibroelastosis.

Pathways for Endocardial Fibroelastosis

GO Terms for Endocardial Fibroelastosis

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

# 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:

# 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 regulation of the force of heart contraction GO:0002026 9.26 CSRP3 MYH7
4 cardiac muscle tissue development GO:0048738 9.16 CSRP3 TAZ
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:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 ACTN2 MYH7 NEBL
2 cytoskeletal protein binding GO:0008092 9.26 ACTN2 NEBL
3 actin binding GO:0003779 9.26 ACTN2 CSRP3 MYH7 NEBL
4 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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