EMF
MCID: END021
MIFTS: 56

Endomyocardial Fibrosis (EMF)

Categories: Cardiovascular diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Endomyocardial Fibrosis

MalaCards integrated aliases for Endomyocardial Fibrosis:

Name: Endomyocardial Fibrosis 12 73 20 54 44 15 17 70
Obscure African Cardiomyopathy 12 70
Becker's Disease 12 6
African Endomyocardial Fibrosis 12
Becker Muscular Dystrophy 70
Endomyocardial Sclerosis 12
Emf 48

Classifications:



External Ids:

Disease Ontology 12 DOID:12932
ICD9CM 34 425.0
MeSH 44 D004719
NCIt 50 C34585
SNOMED-CT 67 111507009
UMLS 70 C0553980 C0917713 C1959600

Summaries for Endomyocardial Fibrosis

MalaCards based summary : Endomyocardial Fibrosis, also known as obscure african cardiomyopathy, is related to tropical endomyocardial fibrosis and restrictive cardiomyopathy, and has symptoms including weakness An important gene associated with Endomyocardial Fibrosis is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and skeletal muscle, and related phenotypes are hematopoietic system and immune system

Wikipedia : 73 Hypereosinophilic syndrome is a disease characterized by a persistently elevated eosinophil count (≥... more...

Related Diseases for Endomyocardial Fibrosis

Diseases related to Endomyocardial Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 456)
# Related Disease Score Top Affiliating Genes
1 tropical endomyocardial fibrosis 32.3 TNF IL4 IL10
2 restrictive cardiomyopathy 31.3 PDGFRA FIP1L1 CLCN1
3 endocarditis 31.1 TNF IL10 EPX
4 rheumatic heart disease 30.9 TNF IL4 IL10
5 myocarditis 30.7 TNF IL4 IL10
6 filariasis 30.6 TNF IL5 IL10
7 chagas disease 30.5 TNF IL4 IL10
8 plasmodium falciparum malaria 30.1 TNF IL4 IL10
9 trypanosomiasis 30.1 TNF IL4 IL10
10 peritonitis 30.1 TNF IL4 IL10
11 q fever 30.0 TNF IL4 IL10
12 loeffler syndrome 30.0 IL5 FIP1L1
13 schistosomiasis 30.0 TNF RNASE3 IL5 IL4 IL10
14 erythema multiforme 29.9 TNF IL5 IL4
15 hypereosinophilic syndrome, idiopathic 29.9 PDGFRB PDGFRA IL5 FIP1L1
16 granulomatosis with polyangiitis 29.7 TNF IL5 FIP1L1
17 churg-strauss syndrome 29.7 TNF RNASE3 PRG2 IL5 IL10
18 primary hypereosinophilic syndrome 29.6 PDGFRB PDGFRA FIP1L1
19 trichinosis 29.6 RNASE2 IL5 IL4 IL10
20 status asthmaticus 29.5 RNASE3 IL5 IL10
21 echinococcosis 29.3 TNF RNASE3 IL5 IL10
22 parasitic helminthiasis infectious disease 29.2 TNF RNASE3 IL5 IL4 IL10 EPX
23 chronic eosinophilic leukemia 29.0 PDGFRB PDGFRA IL5 FIP1L1 CHIC2
24 hypereosinophilic syndrome 28.9 RNASE3 PRG2 PDGFRB PDGFRA IL5 IL4
25 loeffler endocarditis 28.6 RNASE3 RNASE2 PRG2 PDGFRA IL5 FIP1L1
26 asthma 28.1 TNF RNASE3 RNASE2 PRG2 IL5 IL4
27 myotonia congenita, autosomal recessive 11.3
28 fibrosis of extraocular muscles, congenital, 1 10.9
29 mitral valve insufficiency 10.5
30 hemopericardium 10.5
31 pericardial effusion 10.5
32 atrial standstill 1 10.5
33 pericarditis 10.4
34 tricuspid valve insufficiency 10.4
35 pulmonary hypertension 10.4
36 constrictive pericarditis 10.4
37 punctate inner choroidopathy 10.4 TNF IL10
38 schistosoma mansoni infection, susceptibility/ 10.4
39 multifocal choroiditis 10.3 TNF IL10
40 choroiditis 10.3 TNF IL10
41 acute gonococcal cervicitis 10.3 IL4 IL10
42 spotted fever rickettsiosis 10.3 TNF IL10
43 palladium allergic contact dermatitis 10.3 TNF IL10
44 metal allergy 10.3 IL4 IL10
45 childhood leukemia 10.3
46 hypertrophic cardiomyopathy 10.3
47 congestive heart failure 10.3
48 autoimmune hepatitis type 1 10.3 IL4 IL10
49 tertiary syphilis 10.3 TNF IL10
50 basidiobolomycosis 10.3 IL4 IL10

Comorbidity relations with Endomyocardial Fibrosis via Phenotypic Disease Network (PDN):


Acute Cystitis Familial Atrial Fibrillation
Heart Disease

Graphical network of the top 20 diseases related to Endomyocardial Fibrosis:



Diseases related to Endomyocardial Fibrosis

Symptoms & Phenotypes for Endomyocardial Fibrosis

UMLS symptoms related to Endomyocardial Fibrosis:


weakness

MGI Mouse Phenotypes related to Endomyocardial Fibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 CHIC2 EPX IL10 IL4 IL5 PDGFRA
2 immune system MP:0005387 9.91 CHIC2 EPX IL10 IL4 IL5 PDGFRA
3 digestive/alimentary MP:0005381 9.85 IL10 IL4 IL5 PDGFRA PDGFRB TNF
4 integument MP:0010771 9.76 CHIC2 CLCN1 IL10 IL4 PDGFRA PDGFRB
5 reproductive system MP:0005389 9.56 CHIC2 CLCN1 IL10 IL4 IL5 PDGFRA
6 respiratory system MP:0005388 9.1 IL10 IL4 IL5 PDGFRA PRG2 TNF

Drugs & Therapeutics for Endomyocardial Fibrosis

Drugs for Endomyocardial Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3 Angiotensin-Converting Enzyme Inhibitors Phase 4
4 Antihypertensive Agents Phase 4
5 HIV Protease Inhibitors Phase 4
6
protease inhibitors Phase 4
7 Adrenergic beta-Antagonists Phase 4
8 Adrenergic Antagonists Phase 4
9 Antioxidants Phase 4
10 Adrenergic alpha-1 Receptor Antagonists Phase 4
11 Adrenergic alpha-Antagonists Phase 4
12 Adrenergic Agents Phase 4
13 Protective Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 calcium channel blockers Phase 4
16 Calcium, Dietary Phase 4
17
Calcium Nutraceutical Phase 4 7440-70-2 271
18
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
19
Enalaprilat Approved Phase 3 76420-72-9 6917719
20
Catechin Approved, Withdrawn Phase 1, Phase 2 154-23-4 9064
21
Metformin Approved Phase 2 657-24-9 14219 4091
22
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
23
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
25
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
26
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
27
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
28
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
29
Sodium citrate Approved, Investigational Phase 2 68-04-2
30
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
31
Epicatechin Investigational Phase 1, Phase 2 490-46-0 72276
32
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
33 Tea Phase 1, Phase 2
34 Hypoglycemic Agents Phase 2
35 Mineralocorticoid Receptor Antagonists Phase 2
36 Mineralocorticoids Phase 2
37 Diuretics, Potassium Sparing Phase 2
38 diuretics Phase 2
39 Hormones Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Methylprednisolone Acetate Phase 2
42 Antineoplastic Agents, Hormonal Phase 2
43 Hormone Antagonists Phase 2
44 glucocorticoids Phase 2
45 Vasodilator Agents Phase 2
46 Phosphodiesterase Inhibitors Phase 2
47 Phosphodiesterase 5 Inhibitors Phase 2
48 Citrate Phase 2
49 Sildenafil Citrate Phase 2 171599-83-0
50
Polyestradiol phosphate Approved Phase 1 28014-46-2

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
3 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
4 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
5 Does Modulation of the nNOS System in Patients With Muscular Dystrophy and Defect nNOS Signalling Affect Cardiac, Muscular or Cognitive Function? Completed NCT01350154 Phase 2 Sildenafil;Placebo
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
7 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
8 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
9 Pilot Study to Assess the Efficacy of L-Citrulline and Metformin in Adults With Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
10 An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD Completed NCT01540604 Phase 2 CRD007
11 A Phase 2B Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Completed NCT00592553 Phase 2 Ataluren;Placebo
12 Heart Failure in Congenital Heart Disease: the Role of Myocardial Fibrosis. Treatment Sub-Study: Spironolactone vs. Placebo Completed NCT01069510 Phase 2 Spironolactone 25mg
13 A Randomised, Double Blind, Placebo Controlled Study to Evaluate the Micro-macroscopic Effects on Muscles, the Safety and Tolerability, and the Efficacy of Givinostat in Patients With Becker Muscular Dystrophy (BMD) Active, not recruiting NCT03238235 Phase 2 givinostat;placebo
14 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
15 Phase 2 Clinical Trial of Sildenafil for Cardiac Dysfunction in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Terminated NCT01168908 Phase 2 Sildenafil
16 A Phase 2B Extension Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2 Ataluren
17 A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy Terminated NCT01009294 Phase 2 Ataluren;Chronic Corticosteroid Therapy
18 Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis. Completed NCT01519349 Phase 1
19 Sodium Nitrate for Muscular Dystrophy Completed NCT02434627 Phase 1 Sodium Nitrate
20 Sodium Nitrate to Improve Blood Flow Completed NCT02847975 Phase 1
21 Gentamicin Treatment of Patients With Muscular Dystrophy Due to Nonsense Mutations in Dystrophin Completed NCT00005574 Phase 1 Gentamicin
22 A Phase 1, Randomized, Placebo-Controlled, Double-blind, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and PK of EDG-5506 in Adult Healthy Volunteers and Adults With Becker Muscular Dystrophy Recruiting NCT04585464 Phase 1 EDG-5506;Placebo
23 A Phase 1, Open-label, Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Orally Administered (+)-Epicatechin in Patients With Becker or Becker-like Muscular Dystrophy With Continued Ambulation Past 16 Years of Age Active, not recruiting NCT04386304 Phase 1 (+)-Epicatechin
24 A Randomized, Partially Double-Blind, Four-Period, Four-Treatment, Crossover Study Investigating the Placebo-Corrected Effects of a Therapeutic Dose (100 mg) and a Supratherapeutic Dose (300 mg) of ITF2357 (Givinostat) and Moxifloxacin on QT/QTC Interval in Healthy Male and Female Subjects Not yet recruiting NCT04821063 Phase 1 ITF2357 10 mg/mL;ITF2357 10 mg/mL;Placebo;Moxifloxacin Hydrochloride;Placebo
25 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
26 PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Unknown status NCT01539772
27 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
28 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
29 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
30 Effect of Eicosapentaenoic Fatty Acid (EPA) and Docosahexaenoic Fatty Acids (DHA) Supplementation on the Inflammation State and Metabolic Disorders in Patients With Duchenne Muscular Dystrophy or Becker Muscular Dystrophy Completed NCT01826422
31 Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy Completed NCT02194725
32 Assessment of Myocardial Fibrosis - Impact on Postoperative Outcome i Patients With Severe Aortic STenosis Undergoing Aortic Valve Replacement Completed NCT02316587
33 The Genetic Basis of Acquired Heart Disease in Africa Completed NCT02124109
34 The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network) Recruiting NCT02069756
35 Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy Active, not recruiting NCT02470962
36 Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) Active, not recruiting NCT02972580
37 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
38 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study Not yet recruiting NCT04583917
39 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study Not yet recruiting NCT04668716
40 Skeletal Muscle Blood Flow in Becker Muscular Dystrophy Terminated NCT02653833 Early Phase 1 Tadalafil 20 MG

Search NIH Clinical Center for Endomyocardial Fibrosis

Cochrane evidence based reviews: endomyocardial fibrosis

Genetic Tests for Endomyocardial Fibrosis

Anatomical Context for Endomyocardial Fibrosis

MalaCards organs/tissues related to Endomyocardial Fibrosis:

40
Heart, Bone Marrow, Skeletal Muscle, Myeloid, Bone, Lung, Brain

Publications for Endomyocardial Fibrosis

Articles related to Endomyocardial Fibrosis:

(show top 50) (show all 1072)
# Title Authors PMID Year
1
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 54 6
11113225 2000
2
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. 6 54
10215406 1998
3
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
4
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita. 6
32117024 2020
5
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. 6
29480456 2018
6
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient. 6
30243293 2018
7
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. 6
29935101 2018
8
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 6
29606556 2018
9
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. 6
29424939 2018
10
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). 6
29405036 2017
11
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 6
28427807 2017
12
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. 6
28706458 2017
13
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 6
27415035 2017
14
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. 6
27614575 2016
15
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. 6
27580824 2016
16
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. 6
27296017 2016
17
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
18
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 6
27142102 2016
19
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China. 6
27118449 2016
20
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 6
27199537 2015
21
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 6
26502825 2015
22
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 6
26007199 2015
23
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 6
26096614 2015
24
Becker myotonia-a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype. 6
25487368 2015
25
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels. 6
26021757 2015
26
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. 6
25749817 2015
27
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 6
25065301 2015
28
Myotonia congenita: novel mutations in CLCN1 gene. 6
26260254 2015
29
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 6
25036107 2014
30
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. 6
24515601 2014
31
Chloride channels in myotonia congenita assessed by velocity recovery cycles. 6
24037712 2014
32
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay. 6
24452722 2014
33
Asymptomatic myotonia congenita unmasked by severe hypothyroidism. 6
24530047 2014
34
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 6
23893571 2014
35
Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita. 6
24625573 2014
36
[Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of Thomsen's and Becker's myotonias in Russian population]. 6
25438602 2013
37
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. 6
24304580 2013
38
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 6
23933576 2013
39
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 6
23739125 2013
40
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 6
23810313 2013
41
Prevalence study of genetically defined skeletal muscle channelopathies in England. 6
23516313 2013
42
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 6
24349310 2013
43
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. 6
23424641 2013
44
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]. 6
23603549 2013
45
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. 6
22921319 2013
46
An informatics approach to analyzing the incidentalome. 6
22995991 2013
47
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]. 6
23225051 2012
48
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 6
23152584 2012
49
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 6
22407275 2012
50
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. 6
23097607 2012

Variations for Endomyocardial Fibrosis

ClinVar genetic disease variations for Endomyocardial Fibrosis:

6 (show top 50) (show all 376)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NM_000083.3(CLCN1):c.979+1G>A SNV Pathogenic 17534 rs1563078827 GRCh37: 7:143027991-143027991
GRCh38: 7:143330898-143330898
2 CLCN1 CLCN1, 14-BP DEL Deletion Pathogenic 17540 GRCh37:
GRCh38:
3 CLCN1 NG_009815.1:g.19647-?_28496+?dup Duplication Pathogenic 40242 GRCh37:
GRCh38:
4 CLCN1 NM_000083.3(CLCN1):c.469del (p.Leu157fs) Deletion Pathogenic 462831 rs1554434794 GRCh37: 7:143018492-143018492
GRCh38: 7:143321399-143321399
5 CLCN1 NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter) Indel Pathogenic 17547 rs1586496726 GRCh37: 7:143027909-143027911
GRCh38: 7:143330816-143330818
6 CLCN1 NM_000083.3(CLCN1):c.830dup (p.Cys277fs) Duplication Pathogenic 17544 rs140026363 GRCh37: 7:143021561-143021562
GRCh38: 7:143324468-143324469
7 CLCN1 NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs) Microsatellite Pathogenic 623350 rs752041565 GRCh37: 7:143029843-143029846
GRCh38: 7:143332750-143332753
8 CLCN1 NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) SNV Pathogenic 804708 rs139039122 GRCh37: 7:143020402-143020402
GRCh38: 7:143323309-143323309
9 CLCN1 NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) SNV Pathogenic 17535 rs121912801 GRCh37: 7:143036620-143036620
GRCh38: 7:143339527-143339527
10 CLCN1 NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) SNV Pathogenic 17541 rs121912805 GRCh37: 7:143027882-143027882
GRCh38: 7:143330789-143330789
11 CLCN1 NM_000083.3(CLCN1):c.979+1G>T SNV Pathogenic 932027 GRCh37: 7:143027991-143027991
GRCh38: 7:143330898-143330898
12 CLCN1 CLCN1, TRP433ARG Variation Pathogenic 17549 GRCh37:
GRCh38:
13 CLCN1 NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) SNV Pathogenic 447043 rs767000881 GRCh37: 7:143028408-143028408
GRCh38: 7:143331315-143331315
14 CLCN1 NM_000083.3(CLCN1):c.1918del (p.Val640fs) Deletion Pathogenic 462826 rs1554438574 GRCh37: 7:143039585-143039585
GRCh38: 7:143342492-143342492
15 CLCN1 NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) Deletion Pathogenic 567845 rs780534566 GRCh37: 7:143047670-143047671
GRCh38: 7:143350577-143350578
16 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
17 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) Deletion Pathogenic 570543 rs1563084597 GRCh37: 7:143039083-143039084
GRCh38: 7:143341990-143341991
18 CLCN1 NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) Duplication Pathogenic 447048 rs763633152 GRCh37: 7:143029822-143029823
GRCh38: 7:143332729-143332730
19 CLCN1 NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) SNV Pathogenic 17535 rs121912801 GRCh37: 7:143036620-143036620
GRCh38: 7:143339527-143339527
20 CLCN1 NM_000083.3(CLCN1):c.2285-1G>C SNV Pathogenic 573366 rs1222525763 GRCh37: 7:143043671-143043671
GRCh38: 7:143346578-143346578
21 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) SNV Pathogenic 447045 rs201714423 GRCh37: 7:143028708-143028708
GRCh38: 7:143331615-143331615
22 CLCN1 NM_000083.3(CLCN1):c.2763_2764TG[1] (p.Val922fs) Microsatellite Pathogenic 577396 rs1563091175 GRCh37: 7:143048854-143048855
GRCh38: 7:143351761-143351762
23 CLCN1 NM_000083.3(CLCN1):c.302-1G>A SNV Pathogenic 577893 rs529377088 GRCh37: 7:143017756-143017756
GRCh38: 7:143320663-143320663
24 CLCN1 NM_000083.2(CLCN1):c.50_434-202del Deletion Pathogenic 580190 GRCh37: 7:143013355-143018256
GRCh38: 7:143316262-143321163
25 CLCN1 NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) SNV Pathogenic 582345 rs749205522 GRCh37: 7:143047703-143047703
GRCh38: 7:143350610-143350610
26 CLCN1 NM_000083.3(CLCN1):c.1357del (p.Arg453fs) Deletion Pathogenic 648711 rs1586499614 GRCh37: 7:143029918-143029918
GRCh38: 7:143332825-143332825
27 CLCN1 NC_000007.14:g.(?_143345501)_(143350674_?)del Deletion Pathogenic 583787 GRCh37: 7:143042594-143047767
GRCh38: 7:143345501-143350674
28 CLCN1 NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) SNV Pathogenic 17542 rs80356702 GRCh37: 7:143027961-143027961
GRCh38: 7:143330868-143330868
29 CLCN1 NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) Duplication Pathogenic 664719 rs1586499614 GRCh37: 7:143029917-143029918
GRCh38: 7:143332824-143332825
30 CLCN1 NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) SNV Pathogenic 802379 rs770900468 GRCh37: 7:143036610-143036610
GRCh38: 7:143339517-143339517
31 CLCN1 NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) SNV Pathogenic 862321 GRCh37: 7:143029592-143029592
GRCh38: 7:143332499-143332499
32 CLCN1 NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) SNV Pathogenic 862747 GRCh37: 7:143039224-143039224
GRCh38: 7:143342131-143342131
33 CLCN1 NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) Duplication Pathogenic 447048 rs763633152 GRCh37: 7:143029822-143029823
GRCh38: 7:143332729-143332730
34 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
35 CLCN1 NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) SNV Pathogenic 374131 rs1057518917 GRCh37: 7:143048726-143048726
GRCh38: 7:143351633-143351633
36 CLCN1 NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) SNV Pathogenic 935242 GRCh37: 7:143039118-143039118
GRCh38: 7:143342025-143342025
37 CLCN1 NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) SNV Pathogenic 802379 rs770900468 GRCh37: 7:143036610-143036610
GRCh38: 7:143339517-143339517
38 CLCN1 NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) SNV Pathogenic 546108 rs746125212 GRCh37: 7:143036388-143036388
GRCh38: 7:143339295-143339295
39 CLCN1 NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) SNV Pathogenic 21050 rs80356701 GRCh37: 7:143027931-143027931
GRCh38: 7:143330838-143330838
40 CLCN1 NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) Indel Pathogenic 209139 rs797045032 GRCh37: 7:143018813-143018814
GRCh38: 7:143321720-143321721
41 CLCN1 NM_000083.3(CLCN1):c.774+1G>A SNV Pathogenic 265646 rs776073429 GRCh37: 7:143020480-143020480
GRCh38: 7:143323387-143323387
42 CLCN1 NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) SNV Pathogenic 17532 rs80356700 GRCh37: 7:143018934-143018934
GRCh38: 7:143321841-143321841
43 CLCN1 NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) SNV Pathogenic 280101 rs146457619 GRCh37: 7:143036397-143036397
GRCh38: 7:143339304-143339304
44 CLCN1 NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) Duplication Pathogenic 280103 rs755176513 GRCh37: 7:143048918-143048919
GRCh38: 7:143351825-143351826
45 CLCN1 NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) SNV Pathogenic 21047 rs80356687 GRCh37: 7:143021535-143021535
GRCh38: 7:143324442-143324442
46 CLCN1 NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) SNV Pathogenic 489334 rs1554436799 GRCh37: 7:143029524-143029524
GRCh38: 7:143332431-143332431
47 CLCN1 NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) SNV Pathogenic 546108 rs746125212 GRCh37: 7:143036388-143036388
GRCh38: 7:143339295-143339295
48 CLCN1 NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) SNV Pathogenic 620142 rs561470261 GRCh37: 7:143020447-143020447
GRCh38: 7:143323354-143323354
49 CLCN1 NM_000083.3(CLCN1):c.2013_2014GC[2] (p.Ala673fs) Microsatellite Pathogenic 817723 rs1586515112 GRCh37: 7:143042696-143042697
GRCh38: 7:143345603-143345604
50 CLCN1 NM_000083.3(CLCN1):c.2364+2T>A SNV Pathogenic 280102 rs886041384 GRCh37: 7:143043753-143043753
GRCh38: 7:143346660-143346660

Expression for Endomyocardial Fibrosis

Search GEO for disease gene expression data for Endomyocardial Fibrosis.

Pathways for Endomyocardial Fibrosis

Pathways related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 TNF RNASE3 RNASE2 PRG2 PDGFRB PDGFRA
2
Show member pathways
13.65 TNF PRG2 PDGFRB PDGFRA IL5 IL4
3
Show member pathways
13.25 TNF PDGFRB PDGFRA IL5 IL4 IL10
4
Show member pathways
13.18 TNF PDGFRB PDGFRA IL5 IL4 IL10
5
Show member pathways
13.11 TNF PDGFRB PDGFRA IL5 IL4 IL10
6
Show member pathways
12.45 TNF IL5 IL4 IL10
7
Show member pathways
12.44 TNF IL5 IL4 IL10
8
Show member pathways
12.43 TNF PDGFRB PDGFRA IL10
9
Show member pathways
12.2 PDGFRB PDGFRA IL5 IL4 IL10
10
Show member pathways
11.97 TNF RNASE3 PRG2 PDGFRA IL5 IL4
11
Show member pathways
11.94 TNF PDGFRB PDGFRA IL5 IL4 IL10
12 11.86 TNF IL4 IL10
13 11.8 TNF IL5 IL4 IL10
14 11.75 TNF IL5 IL4
15
Show member pathways
11.61 TNF IL5 IL4
16 11.57 TNF IL5 IL4 IL10
17 11.52 TNF IL5 IL4
18 11.51 IL5 IL4 IL10
19 11.44 TNF IL5 IL4 IL10
20 11.39 TNF IL4 IL10
21 11.35 IL5 IL4 IL10
22 11.16 TNF IL5 IL4
23 11.05 IL5 IL4 IL10
24 10.76 PDGFRB PDGFRA
25 10.72 TNF IL5 IL4 IL10
26 10.66 IL5 IL4
27 10.6 TNF PRG2 PDGFRB PDGFRA IL5 IL4

GO Terms for Endomyocardial Fibrosis

Cellular components related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 TNF RNASE3 RNASE2 IL5 IL4 IL10
2 extracellular region GO:0005576 9.23 TNF RNASE3 RNASE2 PRG2 IL5 IL4

Biological processes related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.86 TNF IL5 IL4 IL10
2 MAPK cascade GO:0000165 9.85 TNF PDGFRB PDGFRA IL5
3 immune response GO:0006955 9.85 TNF PRG2 IL5 IL4 IL10
4 positive regulation of DNA-binding transcription factor activity GO:0051091 9.79 TNF IL5 IL10
5 defense response to Gram-positive bacterium GO:0050830 9.77 TNF RNASE3 RNASE2
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 TNF PDGFRB PDGFRA
7 positive regulation of immunoglobulin production GO:0002639 9.62 IL5 IL10
8 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.62 TNF IL10
9 positive regulation of phospholipase C activity GO:0010863 9.61 PDGFRB PDGFRA
10 positive regulation of podosome assembly GO:0071803 9.59 TNF IL5
11 cardiac myofibril assembly GO:0055003 9.58 PDGFRB PDGFRA
12 positive regulation of MHC class II biosynthetic process GO:0045348 9.58 IL4 IL10
13 chemotaxis GO:0006935 9.56 RNASE3 RNASE2 PDGFRB PDGFRA
14 endothelial cell apoptotic process GO:0072577 9.54 TNF IL10
15 retina vasculature development in camera-type eye GO:0061298 9.52 PDGFRB PDGFRA
16 positive regulation of mononuclear cell migration GO:0071677 9.51 TNF IL4
17 induction of bacterial agglutination GO:0043152 9.49 RNASE3 RNASE2
18 negative regulation of cytokine production involved in immune response GO:0002719 9.48 TNF IL10
19 type 2 immune response GO:0042092 9.43 IL4 IL10
20 metanephric glomerular capillary formation GO:0072277 9.4 PDGFRB PDGFRA
21 regulation of isotype switching GO:0045191 9.37 IL4 IL10
22 positive regulation of JAK-STAT cascade GO:0046427 9.33 TNF IL5 IL10
23 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.32 PDGFRB PDGFRA
24 innate immune response in mucosa GO:0002227 9.13 RNASE3 RNASE2 IL4
25 defense response to bacterium GO:0042742 9.02 TNF RNASE3 PRG2 IL10 EPX

Molecular functions related to Endomyocardial Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 9.26 PDGFRB PDGFRA
2 cytokine activity GO:0005125 9.26 TNF IL5 IL4 IL10
3 platelet-derived growth factor binding GO:0048407 9.16 PDGFRB PDGFRA
4 vascular endothelial growth factor binding GO:0038085 8.62 PDGFRB PDGFRA

Sources for Endomyocardial Fibrosis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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