EFE
MCID: END020
MIFTS: 54

Endocardial Fibroelastosis (EFE)

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Endocardial Fibroelastosis

MalaCards integrated aliases for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 57 12 73 20 58 29 54 6 44 15 17 70 32
Endomyocardial Fibroelastosis 20 58 6
Elastomyofibrosis 12
Efe 57

Characteristics:

Orphanet epidemiological data:

58
endocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
heterogeneous
autosomal recessive


HPO:

31
endocardial fibroelastosis:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:12929
OMIM® 57 226000
ICD9CM 34 425.3
MeSH 44 D004695
NCIt 50 C98922
SNOMED-CT 67 65457005
ICD10 32 I42.4
ICD10 via Orphanet 33 I42.4
UMLS via Orphanet 71 C0014117
Orphanet 58 ORPHA2022
MedGen 41 C0014117
UMLS 70 C0014117

Summaries for Endocardial Fibroelastosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2022 Definition Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. Epidemiology The incidence at birth is estimated at 1 in 5 000. Clinical description In the majority of cases, endomyocardial fibroelastosis is diagnosed at between 3 and 6 months of age. The cardiac insufficiency may be acute with a severe prognosis or chronic. Etiology The underlying cause of the sporadic cases is unknown: it may be associated with an antenatal viral infection, subendocardial ischemia or metabolic anomalies. Genetic counseling The primary form is mainly sporadic but 10% of cases are familial with all possible modes of transmission ( autosomal dominant, autosomal recessive, X-linked ). Management and treatment Treatment is the same as that used for cardiac insufficiency.

MalaCards based summary : Endocardial Fibroelastosis, also known as endomyocardial fibroelastosis, is related to barth syndrome and atrial standstill 1. An important gene associated with Endocardial Fibroelastosis is TAFAZZIN (Tafazzin, Phospholipid-Lysophospholipid Transacylase), and among its related pathways/superpathways are Striated Muscle Contraction and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, brain and skin, and related phenotypes are abnormality of the helix and cognitive impairment

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.

Wikipedia : 73 Endocardial fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old... more...

More information 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 180)
# Related Disease Score Top Affiliating Genes
1 barth syndrome 32.5 TAFAZZIN MYH7 DNASE1L1 DNAJC19
2 atrial standstill 1 31.0 TAFAZZIN NPPB MYH7 DMD CSRP3
3 heart block, congenital 30.7 TRIM21 SSB RO60
4 atrial heart septal defect 30.7 NPPB MYH7 DMD
5 atrioventricular block 30.5 TRIM21 SSB RO60 NPPB MYH7
6 parotitis 30.4 TRIM21 SSB
7 dilated cardiomyopathy 30.4 TAFAZZIN NPPB NEBL MYPN MYH7 DNAJC19
8 restrictive cardiomyopathy 30.3 NPPB MYPN MYH7 DMD CSRP3
9 hypertrophic cardiomyopathy 30.1 TAFAZZIN NPPB NEBL MYPN MYH7 DMD
10 familial isolated dilated cardiomyopathy 29.5 TAFAZZIN NEBL MYPN MYH7 DMD CSRP3
11 hydrocephalus, endocardial fibroelastosis, and cataracts 11.8
12 ulnar agenesis and endocardial fibroelastosis 11.3
13 endocardial fibroelastosis and coarctation of abdominal aorta 11.2
14 faciocardiorenal syndrome 11.2
15 cardiomyopathy, infantile histiocytoid 11.2
16 arterial calcification of infancy 11.2
17 hypoplastic left heart syndrome 10.6
18 mumps 10.5
19 congestive heart failure 10.5
20 myocarditis 10.5
21 aortic valve disease 2 10.4
22 hydrops fetalis, nonimmune 10.4
23 lymphatic malformation 7 10.4
24 mitral valve stenosis 10.4
25 glycogen storage disease 10.4
26 autosomal dominant distal myopathy 10.4 MYH7 DMD
27 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 NEB DMD
28 diffuse infiltrative lymphocytosis syndrome 10.3 TRIM21 SSB
29 reducing body myopathy 10.3 NEB DMD
30 pulmonary embolism and infarction 10.3 TRIM21 RO60
31 left ventricular noncompaction 1 10.3 MYPN ACTN2
32 mononeuritis of upper limb and mononeuritis multiplex 10.3 TRIM21 SSB
33 mononeuritis multiplex 10.3 TRIM21 SSB
34 second-degree atrioventricular block 10.3 TRIM21 SSB
35 cardiomyopathy, dilated, 3b 10.3 TAFAZZIN DMD
36 parotid disease 10.3 TRIM21 SSB
37 pulmonary hypertension 10.3
38 heart disease 10.3
39 polyclonal hypergammaglobulinemia 10.3 TRIM21 SSB
40 first-degree atrioventricular block 10.3 TRIM21 NPPB MYH7
41 orbital granuloma 10.3 TRIM21 SSB
42 dyskinesia of esophagus 10.3 TRIM21 SSB
43 third-degree atrioventricular block 10.3 TRIM21 SSB NPPB
44 raynaud disease 10.2 TRIM21 SSB
45 batten-turner congenital myopathy 10.2 NEB MYH7 DMD
46 mitochondrial dna depletion syndrome 12b 10.2 MYPN MYH7
47 bethlem myopathy 1 10.2 NEB MYH7 DMD
48 mucopolysaccharidosis-plus syndrome 10.2
49 hemopericardium 10.2
50 mitral valve insufficiency 10.2

Comorbidity relations with Endocardial Fibroelastosis via Phenotypic Disease Network (PDN):


Familial Atrial Fibrillation Heart Disease

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



Diseases related to Endocardial Fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

Human phenotypes related to Endocardial Fibroelastosis:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0011039
2 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
3 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
4 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
9 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
10 restrictive cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001723
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 anterior hypopituitarism 58 31 frequent (33%) Frequent (79-30%) HP:0000830
13 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
14 seizure 31 frequent (33%) HP:0001250
15 endocardial fibroelastosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001706
16 seizures 58 Frequent (79-30%)
17 abnormal facial shape 31 HP:0001999
18 malformation of the heart and great vessels 58 Very frequent (99-80%)
19 abnormality of the nervous system 31 HP:0000707
20 cardiomyopathy 31 HP:0001638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.55 TRIM21
2 Decreased viability GR00249-S 9.55 GAB3 HIRIP3 TNS2
3 Decreased viability GR00381-A-1 9.55 A1BG HIRIP3
4 Decreased viability GR00381-A-2 9.55 A1BG
5 Decreased viability GR00381-A-3 9.55 A1BG
6 Decreased viability GR00386-A-1 9.55 CSRP1 DNAJC19 GAB3 MYPN
7 Decreased viability GR00402-S-2 9.55 A1BG DMD DNAJC19 HIRIP3 NEB

MGI Mouse Phenotypes related to Endocardial Fibroelastosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CSRP1 CSRP3 DMD GAB2 MYH7 MYPN

Drugs & Therapeutics for Endocardial Fibroelastosis

Search Clinical Trials , 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:

40
Heart, Brain, Skin, Kidney, Endothelial, Atrioventricular Node, Neutrophil

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 860)
# Title Authors PMID Year
1
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. 6 54 61
16548007 2006
2
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 6 54 61
9382096 1997
3
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. 6 61
20812380 2010
4
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. 6 61
9332651 1997
5
Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. 6 61
8434619 1993
6
Fibroelastosis of the right ventricle in two brothers of triplets. 57 61
7220390 1980
7
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. 61 57
6105824 1980
8
Heredity in primary endocardial fibroelastosis. 57 61
127595 1975
9
Primary endocardial fibroelastosis. An inherited condition. 61 57
4265460 1973
10
Two cases of endocardial fibroelastosis--possible x-linked determination. 61 6
4685904 1973
11
Endocardial fibroelastosis: family studies with special reference to counseling. 57 61
5567961 1971
12
Familial endocardial fibroelastosis. 61 57
6019751 1967
13
Endocardial fibroelastosis occurring in a mother and son. 57 61
5954232 1966
14
Primary endocardial fibroelastosis in siblings. 57 61
13925665 1962
15
Endocardial fibroelastosis in siblings. 61 57
13846986 1960
16
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
17
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. 6
28123175 2017
18
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 6
28183324 2017
19
New targets for monitoring and therapy in Barth syndrome. 6
26845103 2016
20
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? 6
26724946 2016
21
Cardiomyopathy in a male patient with neutropenia and growth delay. 6
24887148 2014
22
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. 6
23361305 2013
23
Natural history of Barth syndrome: a national cohort study of 22 patients. 6
23656970 2013
24
New clinical and molecular insights on Barth syndrome. 6
23409742 2013
25
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
26
Barth syndrome mutations that cause tafazzin complex lability. 6
21300850 2011
27
Dysmorphology of Barth syndrome. 6
19648820 2009
28
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome. 6
19396829 2009
29
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. 6
17394203 2007
30
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome. 6
16873891 2006
31
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. 6
16880272 2006
32
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 6
16427346 2006
33
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. 6
15098233 2004
34
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. 6
12468278 2002
35
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. 6
12032589 2002
36
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. 6
11735032 2001
37
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. 6
11238270 2001
38
Mutation characterization and genotype-phenotype correlation in Barth syndrome. 6
9345098 1997
39
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. 6
9382097 1997
40
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 6
8630491 1996
41
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. 6
7616547 1995
42
Barth syndrome: clinical observations and genetic linkage studies. 6
8042670 1994
43
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. 6
1719174 1991
44
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. 6
1998334 1991
45
Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide. 61
33001359 2021
46
Case Report: Acute Thrombotic Angiopathy of Atrial Appendage Epicardial Veins: A Seemingly Innocuous Finding Portending a Fatal Outcome. 61
33791344 2021
47
Endocardial fibroelastosis in a dog with congestive heart failure. 61
33091799 2020
48
Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers. 61
32674792 2020
49
Fetal aortic valvuloplasty: first report of two cases from Saudi Arabia. 61
32571360 2020
50
Autoimmune-mediated congenital heart block. 61
31685414 2020

Variations for Endocardial Fibroelastosis

ClinVar genetic disease variations for Endocardial Fibroelastosis:

6 (show top 50) (show all 151)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAFAZZIN NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) SNV Pathogenic 42257 rs397515741 GRCh37: X:153641844-153641844
GRCh38: X:154413507-154413507
2 TAFAZZIN NM_000116.5(TAFAZZIN):c.700-1G>A SNV Pathogenic 42265 rs397515747 GRCh37: X:153648996-153648996
GRCh38: X:154420657-154420657
3 TAFAZZIN NM_000116.5(TAFAZZIN):c.708_709TG[1] (p.Val237fs) Microsatellite Pathogenic 177908 rs727504394 GRCh37: X:153649005-153649006
GRCh38: X:154420666-154420667
4 TAFAZZIN NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) SNV Pathogenic 403954 rs1060500044 GRCh37: X:153641586-153641586
GRCh38: X:154413249-154413249
5 TAFAZZIN NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) SNV Pathogenic 560626 rs1569552731 GRCh37: X:153641901-153641901
GRCh38: X:154413564-154413564
6 TAFAZZIN NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) SNV Pathogenic 638931 rs1603377945 GRCh37: X:153641904-153641904
GRCh38: X:154413567-154413567
7 TAFAZZIN NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) SNV Pathogenic 426783 rs1085307797 GRCh37: X:153648433-153648433
GRCh38: X:154420094-154420094
8 TAFAZZIN NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) SNV Pathogenic 662186 rs1603381860 GRCh37: X:153648601-153648601
GRCh38: X:154420262-154420262
9 TAFAZZIN NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) SNV Pathogenic 35505 rs387907218 GRCh37: X:153649015-153649015
GRCh38: X:154420676-154420676
10 TAFAZZIN NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) SNV Pathogenic 653322 rs1060500044 GRCh37: X:153641586-153641586
GRCh38: X:154413249-154413249
11 TAFAZZIN NM_000116.5(TAFAZZIN):c.647-1G>C SNV Pathogenic 11112 rs587776741 GRCh37: X:153648550-153648550
GRCh38: X:154420211-154420211
12 TAFAZZIN NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) Deletion Pathogenic 11111 rs1603381671 GRCh37: X:153648390-153648393
GRCh38: X:154420051-154420054
13 TAFAZZIN NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) SNV Pathogenic 11110 rs104894942 GRCh37: X:153641585-153641585
GRCh38: X:154413248-154413248
14 DNASE1L1 , TAFAZZIN NM_000116.5(TAFAZZIN):c.110-2A>G SNV Pathogenic 11109 rs1603376833 GRCh37: X:153640421-153640421
GRCh38: X:154412084-154412084
15 TAFAZZIN NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) SNV Pathogenic 11108 rs104894937 GRCh37: X:153641886-153641886
GRCh38: X:154413549-154413549
16 TAFAZZIN NM_000116.5(TAFAZZIN):c.284+110G>A SNV Pathogenic 11107 rs1603377747 GRCh37: X:153641699-153641699
GRCh38: X:154413362-154413362
17 TAFAZZIN TAZ, IVS1DS, G-C, +5 SNV Pathogenic 11106 GRCh37:
GRCh38:
18 TAFAZZIN NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) SNV Pathogenic 11105 rs132630277 GRCh37: X:153648376-153648376
GRCh38: X:154420037-154420037
19 TAFAZZIN TAZ, 1-BP DEL Deletion Pathogenic 11104 GRCh37:
GRCh38:
20 TAFAZZIN TAZ, 1-BP INS, NT868 Insertion Pathogenic 11103 GRCh37:
GRCh38:
21 TAFAZZIN NM_000116.5(TAFAZZIN):c.239-1G>C SNV Pathogenic 11102 rs1603377590 GRCh37: X:153641543-153641543
GRCh38: X:154413206-154413206
22 TAFAZZIN NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) SNV Pathogenic 11101 rs104894941 GRCh37: X:153640466-153640466
GRCh38: X:154412129-154412129
23 TAFAZZIN NM_000116.5(TAFAZZIN):c.239-1G>A SNV Pathogenic 11100 rs1603377590 GRCh37: X:153641543-153641543
GRCh38: X:154413206-154413206
24 TAFAZZIN NM_000116.5(TAFAZZIN):c.236_238+5del Deletion Likely pathogenic 842542 GRCh37: X:153640549-153640556
GRCh38: X:154412212-154412219
25 TAFAZZIN NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) SNV Likely pathogenic 992964 GRCh37: X:153649070-153649070
GRCh38: X:154420731-154420731
26 TAFAZZIN NM_000116.5(TAFAZZIN):c.528_541+7del Deletion Likely pathogenic 855792 GRCh37: X:153647946-153647966
GRCh38: X:154419607-154419627
27 TAFAZZIN NM_000116.5(TAFAZZIN):c.542-2A>G SNV Likely pathogenic 855841 GRCh37: X:153648042-153648042
GRCh38: X:154419703-154419703
28 TAFAZZIN NM_000116.5(TAFAZZIN):c.238+2_238+9del Deletion Likely pathogenic 661106 rs1603376938 GRCh37: X:153640550-153640557
GRCh38: X:154412213-154412220
29 TAFAZZIN NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) SNV Likely pathogenic 807698 rs1557191170 GRCh37: X:153640551-153640551
GRCh38: X:154412214-154412214
30 TAFAZZIN NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) Deletion Likely pathogenic 433548 rs1557194525 GRCh37: X:153649300-153649300
GRCh38: X:154420961-154420961
31 TAFAZZIN NM_000116.5(TAFAZZIN):c.542-3C>G SNV Likely pathogenic 488616 rs781795144 GRCh37: X:153648041-153648041
GRCh38: X:154419702-154419702
32 TAFAZZIN NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) SNV Likely pathogenic 177990 rs727504431 GRCh37: X:153648551-153648551
GRCh38: X:154420212-154420212
33 TAFAZZIN NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) SNV Likely pathogenic 177794 rs727504327 GRCh37: X:153641881-153641881
GRCh38: X:154413544-154413544
34 TAFAZZIN and overlap with 1 gene(s) NC_000023.10:g.(?_153640181)_(153641904_?)del Deletion Likely pathogenic 177904 GRCh37: X:153640181-153641904
GRCh38:
35 TAFAZZIN NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) SNV Likely pathogenic 42264 rs397515746 GRCh37: X:153648377-153648377
GRCh38: X:154420038-154420038
36 TAFAZZIN NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) SNV Likely pathogenic 42254 rs397515738 GRCh37: X:153640521-153640521
GRCh38: X:154412184-154412184
37 TAFAZZIN NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) SNV Likely pathogenic 42255 rs397515739 GRCh37: X:153641862-153641862
GRCh38: X:154413525-154413525
38 TAFAZZIN NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) SNV Likely pathogenic 42256 rs397515740 GRCh37: X:153641841-153641841
GRCh38: X:154413504-154413504
39 TAFAZZIN NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) SNV Likely pathogenic 237009 rs878853654 GRCh37: X:153640540-153640540
GRCh38: X:154412203-154412203
40 TAFAZZIN NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) SNV Conflicting interpretations of pathogenicity 368087 rs1057515818 GRCh37: X:153647925-153647925
GRCh38: X:154419586-154419586
41 TAFAZZIN NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) SNV Conflicting interpretations of pathogenicity 692017 rs1298362744 GRCh37: X:153649275-153649275
GRCh38: X:154420936-154420936
42 TAFAZZIN NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) SNV Conflicting interpretations of pathogenicity 430910 rs1557194488 GRCh37: X:153649254-153649254
GRCh38: X:154420915-154420915
43 TAFAZZIN NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) SNV Uncertain significance 202096 rs782498694 GRCh37: X:153649060-153649060
GRCh38: X:154420721-154420721
44 TAFAZZIN NM_000116.5(TAFAZZIN):c.238+6C>T SNV Uncertain significance 660945 rs781786197 GRCh37: X:153640557-153640557
GRCh38: X:154412220-154412220
45 TAFAZZIN NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) SNV Uncertain significance 202094 rs375151766 GRCh37: X:153648578-153648578
GRCh38: X:154420239-154420239
46 TAFAZZIN NM_000116.5(TAFAZZIN):c.284+4A>T SNV Uncertain significance 664892 rs1603377638 GRCh37: X:153641593-153641593
GRCh38: X:154413256-154413256
47 TAFAZZIN NM_000116.5(TAFAZZIN):c.541+5G>A SNV Uncertain significance 835040 GRCh37: X:153647967-153647967
GRCh38: X:154419628-154419628
48 TAFAZZIN NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) SNV Uncertain significance 835418 GRCh37: X:153642497-153642497
GRCh38: X:154414160-154414160
49 TAFAZZIN NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) SNV Uncertain significance 835434 GRCh37: X:153641558-153641558
GRCh38: X:154413221-154413221
50 TAFAZZIN NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) SNV Uncertain significance 835805 GRCh37: X:153642447-153642447
GRCh38: X:154414110-154414110

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:

# Super pathways Score Top Affiliating Genes
1 10.66 NEB DMD ACTN2
2 10.3 NPPB MYH7

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 cytoplasm GO:0005737 10.17 TRIM21 TAFAZZIN SSB RO60 NPPB NEBL
2 myofibril GO:0030016 9.43 NEB MYH7 DMD
3 I band GO:0031674 9.37 NEBL MYPN
4 sarcomere GO:0030017 9.35 NEB MYPN MYH7 CSRP3 ACTN2
5 Z disc GO:0030018 9.23 NEBL NEB MYPN MYH7 DMD CSRP3
6 matrix side of mitochondrial inner membrane GO:0099617 9.16 DNAJC19 DMD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 TAFAZZIN MYH7 ACTN2
2 muscle organ development GO:0007517 9.61 NEB DMD CSRP3
3 skeletal muscle tissue development GO:0007519 9.58 TAFAZZIN DMD CSRP3
4 cardiac muscle tissue development GO:0048738 9.49 TAFAZZIN CSRP3
5 regulation of the force of heart contraction GO:0002026 9.48 MYH7 CSRP3
6 cardiac muscle contraction GO:0060048 9.46 TAFAZZIN MYH7 DMD CSRP3
7 muscle fiber development GO:0048747 9.43 NEBL NEB DMD
8 muscle tissue development GO:0060537 9.37 CSRP3 CSRP1
9 cardiac muscle thin filament assembly GO:0071691 9.32 NEBL NEB
10 muscle filament sliding GO:0030049 9.26 NEB MYH7 DMD ACTN2
11 sarcomere organization GO:0045214 8.92 MYPN CSRP3 CSRP1 ACTN2

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 9.55 NEBL NEB MYH7 DMD ACTN2
2 actin binding GO:0003779 9.5 NEBL NEB MYPN MYH7 DMD CSRP3
3 cytoskeletal protein binding GO:0008092 9.43 NEBL MYPN ACTN2
4 actinin binding GO:0042805 9.32 CSRP3 CSRP1
5 structural constituent of muscle GO:0008307 9.1 NEBL NEB DMD CSRP3 CSRP1 ACTN2

Sources for Endocardial Fibroelastosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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