MCID: END020
MIFTS: 44

Endocardial Fibroelastosis malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Endocardial Fibroelastosis

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 50 11 46 23 13 25 48 37 66
Endomyocardial Fibroelastosis 52
 
Elastomyofibrosis 11

Characteristics:

Orphanet epidemiological data:

52
endomyocardial fibroelastosis:
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal

HPO:

62
endocardial fibroelastosis:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 226000
Disease Ontology11 DOID:12929
ICD1028 I42.4
ICD9CM30 425.3
MeSH37 D004695
SNOMED-CT60 65457005
NCIt43 C98922
Orphanet52 ORPHA2022
ICD10 via Orphanet29 I42.4
UMLS via Orphanet67 C0014117

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 Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, skin and kidney.

Wikipedia:69 Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old... more...

Description from OMIM:50 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 cataracts12.6
2barth syndrome11.7
3endomyocardial fibroelastosis11.2
4cardiomyopathy10.6
5mumps10.4
6dilated cardiomyopathy10.4
7myocardial infarction10.3
8pulmonary hypertension10.2
9hypoplastic left heart syndrome10.2
10atrioventricular block10.2
11mucopolysaccharidosis10.2
12myocarditis10.2
13hydrops fetalis10.2
14mucopolysaccharidosis type vi10.1
15congestive heart failure10.1
16heart disease10.1
17aneurysm10.1
18atrial standstill, digenic10.0ACTN2, MYH7
19asthma10.0
20pick disease10.0
21cataract10.0
22chronic lymphocytic leukemia10.0
23hydrocephalus10.0
24leukemia10.0
25niemann-pick disease10.0
26sarcoma10.0
27pertussis10.0
28tetanus10.0
29tricuspid valve insufficiency10.0
30situs inversus10.0
31interstitial myocarditis10.0
32dextrocardia10.0
33transposition of the great arteries10.0
34hypoplastic right heart syndrome10.0
35sudden cardiac death10.0
36anoxia10.0
37hypoxia10.0
38multicystic dysplastic kidney10.0
39endotheliitis10.0
40macroglossia9.9MYH7, NPPB
41craniosynostosis9.8MYH7, NPPB
42pericardium disease9.7MYH7, NPPB
43melanotic neuroectodermal tumor9.5MYH7, NPPB
44autoimmune disease of skin and connective tissue9.3CSRP3, MYH7, TAZ
45ulceroglandular tularemia9.2ACTN2, CSRP3, MYH7
46ectodermal dysplasia9.1CSRP3, MYH7, TAZ
47longitudinal vaginal septum8.9ACTN2, CSRP3, MYH7, TAZ
48chicken egg allergy8.9ACTN2, CSRP3, MYH7, TAZ
49cardiovascular disease risk factor )8.9ACTN2, CSRP3, MYH7, TAZ
50cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome7.8ACTN2, CSRP3, MYH7, NEBL, NPPB, TAZ

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



Diseases related to endocardial fibroelastosis

Symptoms for Endocardial Fibroelastosis

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Symptoms by clinical synopsis from OMIM:

226000

Clinical features from OMIM:

226000

Symptoms:

 52 (show all 16)
  • cryptorchidism
  • abnormality of the palate
  • micrognathia
  • low-set, posteriorly rotated ears
  • telecanthus
  • anterior hypopituitarism
  • seizures
  • congestive heart failure
  • endocardial fibroelastosis
  • restrictive cardiomyopathy
  • sandal gap
  • hypoglycemia
  • malformation of the heart and great vessels
  • hypoplasia of penis
  • abnormality of the helix
  • cognitive impairment

HPO human phenotypes related to Endocardial Fibroelastosis:

(show all 20)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 micrognathia hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 telecanthus hallmark (90%) HP:0000506
5 sandal gap hallmark (90%) HP:0001852
6 hypoglycemia hallmark (90%) HP:0001943
7 abnormality of the helix hallmark (90%) HP:0011039
8 arrhythmia hallmark (90%) HP:0011675
9 cognitive impairment hallmark (90%) HP:0100543
10 cryptorchidism typical (50%) HP:0000028
11 anterior hypopituitarism typical (50%) HP:0000830
12 seizures typical (50%) HP:0001250
13 hypoplasia of penis typical (50%) HP:0008736
14 abnormality of the endocardium occasional (7.5%) HP:0004306
15 cryptorchidism HP:0000028
16 abnormality of the nervous system HP:0000707
17 congestive heart failure HP:0001635
18 cardiomyopathy HP:0001638
19 endocardial fibroelastosis HP:0001706
20 abnormal facial shape HP:0001999

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 Fibroelastosis25 23 TAZ

Anatomical Context for Endocardial Fibroelastosis

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MalaCards organs/tissues related to Endocardial Fibroelastosis:

34
Heart, Skin, Kidney, Endothelial, Testes

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 298)
idTitleAuthorsYear
1
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
2
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. (25585372)
2015
3
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. (23109776)
2012
4
Primary endocardial fibroelastosis of the left ventricle. (23304055)
2012
5
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. (21436591)
2011
6
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. (20202032)
2010
7
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. (20951326)
2010
8
Changing concepts of endocardial fibroelastosis. (20346203)
2010
9
Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis. (11854125)
2002
10
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. (12204513)
2002
11
The contracted type of endocardial fibroelastosis. (10198742)
1999
12
Sequential development of fetal aortic valve stenosis and endocardial fibroelastosis during the second trimester of pregnancy. (9141387)
1997
13
Cardiac transplantation in a neonate with endocardial fibroelastosis. (15227396)
1990
14
Contracted form of primary endocardial fibroelastosis in a young adult without congestive heart failure. (3398240)
1988
15
Prenatal sonographic diagnosis of endocardial fibroelastosis secondary to aortic stenosis. (3278308)
1988
16
Inheritance of familial primary endocardial fibroelastosis. (3698448)
1986
17
Persistent left ventricular disease in clinically "cured" primary endocardial fibroelastosis. (6732999)
1984
18
Endocardial fibroelastosis occurring in a mother and daughter. (15227065)
1984
19
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. (6405371)
1983
20
Postnatal endocardial fibroelastosis of the valve of the foramen ovale. (6450531)
1981
21
Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia. (7417948)
1980
22
Case report. Fetal cardiac failure resulting from endocardial fibroelastosis. (4463269)
1974
23
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
24
Adult endocardial fibroelastosis following electric shock. (4149860)
1974
25
Elastic fibers in endocardial fibroelastosis. (5079853)
1972
26
Endocardial fibroelastosis in children with special reference to the lesions of cardiac ganglia. (5573440)
1971
27
Endocardial fibroelastosis: family studies with special reference to counseling. (5567961)
1971
28
Development of endocardial fibroelastosis following myocardial infarction. (5099882)
1971
29
Studies on the etiopathogenesis of cardiomyopathy with endocardial fibroelastosis. Histological changes in the heart of animals, induced by immunization with heart tissue homogenate and diptheria-tetanus-pertussis vaccine. (5407581)
1969
30
Primary endocardial fibroelastosis. (5958562)
1966
31
Generalized glycogenosis and associated endocardial fibroelastosis. Report of 3 cases with biochemical studies. (5215120)
1965
32
ENDOCARDIAL FIBROELASTOSIS. (14147793)
1964
33
ENDOCARDIAL FIBROELASTOSIS. (14160251)
1964
34
Primary endocardial fibroelastosis in siblings. (13925665)
1962
35
Primary endocardial fibroelastosis: a review of 15 cases. (13893259)
1962
36
Idiopathic cardiac hypertrophy with endocardial fibroelastosis in infancy and childhood. (14419155)
1960
37
Right and left heart catheterization and angiocardiographic findings in idiopathic cardiac hypertrophy with endocardial fibroelastosis. (14419154)
1960
38
Clinical and roentgen features of endocardial fibroelastosis. Report of six cases. (13709738)
1959
39
Endocardial fibroelastosis in an adult: report of a case. (13666200)
1959
40
Primary endocardial fibroelastosis. (14413565)
1959
41
Electrocardiogram of the month: endocardial fibroelastosis. (13829556)
1959
42
Endocardial fibroelastosis. (13462608)
1957
43
Endocardial fibroelastosis. (13445640)
1957
44
Endocardial fibroelastosis in infants associated with thrombosis and calcification of arteries and myocardial infarcts. (13358867)
1956
45
Congenital endocardial fibroelastosis and total heart block; report of case. (13314804)
1956
46
Endocardial fibroelastosis. (13313045)
1956
47
Supravalvular stenosing ring of left atrium in association with endocardial sclerosis (endocardial fibroelastosis) and mitral insufficiency. (13258503)
1955
48
The structural features of epiloia, with special reference to endocardial fibroelastosis. (13163196)
1954
49
Endocardial fibroelastosis. (13031402)
1953
50
Endocardial fibroelastosis in one of 3-year old twins. (13055884)
1953

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

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:00300179.4ACTN2, MYH7
2stress fiberGO:00017259.3MYH7, NEBL
3Z discGO:00300188.1ACTN2, CSRP3, MYH7, NEBL

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

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:00487389.7CSRP3, TAZ
2regulation of the force of heart contractionGO:00020269.3CSRP3, MYH7
3skeletal muscle tissue developmentGO:00075199.1CSRP3, TAZ
4muscle filament slidingGO:00300499.1ACTN2, MYH7
5muscle contractionGO:00069368.7ACTN2, MYH7, TAZ
6cardiac muscle contractionGO:00600488.5CSRP3, MYH7, TAZ

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.6ACTN2, NEBL
2cytoskeletal protein bindingGO:00080929.2ACTN2, NEBL
3structural constituent of muscleGO:00083078.9ACTN2, CSRP3, NEBL

Sources for Endocardial Fibroelastosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet