Lutembacher's Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lutembacher's Syndrome

MalaCards integrated aliases for Lutembacher's Syndrome:

Name: Lutembacher's Syndrome ¹¹ ¹⁴ ¹⁶ ⁷⁵

Lutembacher Syndrome ¹¹ ⁴³ ⁷¹

Lutembacher's Anomaly ¹¹

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:1998

MeSH ⁴³ D008185

SNOMED-CT ⁶⁸ 204319006

EFO ¹⁶ EFO_1001024

UMLS ⁷¹ C0024164

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Summaries for Lutembacher's Syndrome

MalaCards based summary: Lutembacher's Syndrome, also known as lutembacher syndrome, is related to mitral valve stenosis and heart septal defect. An important gene associated with Lutembacher's Syndrome is ENTPD5 (Ectonucleoside Triphosphate Diphosphohydrolase 5 (Inactive)). Affiliated tissues include heart and brain, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia: ⁷⁵ Lutembacher's syndrome is a very rare form of congenital heart disease that affects one of the chambers... more...

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Related Diseases for Lutembacher's Syndrome

Diseases related to Lutembacher's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)

#	Related Disease	Score
1	mitral valve stenosis	10.6
2	heart septal defect	10.6
3	atrial heart septal defect	10.6
4	interatrial communication	10.6
5	patent foramen ovale	10.3
6	tricuspid valve stenosis	10.2
7	pulmonary hypertension	10.2
8	situs inversus	10.2
9	dextrocardia with situs inversus	10.2
10	rheumatic heart disease	10.1
11	infective endocarditis	10.1
12	endocarditis	10.1
13	tricuspid valve insufficiency	10.1
14	mitral valve disease	10.1
15	dextrocardia	10.1
16	congestive heart failure	10.1
17	lymphangiectasia, intestinal	9.9
18	wolff-parkinson-white syndrome	9.9
19	pallister w syndrome	9.9
20	atrioventricular septal defect	9.9
21	meningioma, familial	9.9
22	aortic valve disease 2	9.9
23	aortic valve disease 3	9.9
24	cryptogenic organizing pneumonia	9.9
25	mitral valve insufficiency	9.9
26	rheumatic fever	9.9
27	bronchiolitis obliterans	9.9
28	bronchiolitis	9.9
29	subacute bacterial endocarditis	9.9
30	lymphangiectasis	9.9
31	atrial septal aneurysm	9.9
32	progressive familial heart block, type ia	9.9
33	coarctation of aorta	9.9
34	pulmonary hypertension, primary, 1	9.9
35	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.9
36	progressive familial heart block, type ib	9.9
37	progressive familial heart block	9.9
38	hydrocephalus	9.9
39	heart disease	9.9
40	pericardial effusion	9.9
41	visual epilepsy	9.9
42	right bundle branch block	9.9
43	pharyngitis	9.9
44	glycogen storage disease	9.9
45	pulmonary tuberculosis	9.9
46	heart valve disease	9.9
47	meningitis	9.9
48	children's interstitial lung disease	9.9
49	tuberculous meningitis	9.9
50	cardiogenic shock	9.9

Graphical network of the top 20 diseases related to Lutembacher's Syndrome:

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Symptoms & Phenotypes for Lutembacher's Syndrome

MGI Mouse Phenotypes related to Lutembacher's Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.7	ART1 C1GALT1 CALCRL ENTPD5 RAMP2 SOX18
2	cardiovascular system	MP:0005385	9.43	C1GALT1 CALCRL ENTPD5 RAMP2 SOX18 TBX20
3	immune system	MP:0005387	9.17	ART1 C1GALT1 CALCRL ENTPD5 RAMP2 SOX18

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Drugs & Therapeutics for Lutembacher's Syndrome

Search Clinical Trials, NIH Clinical Center for Lutembacher's Syndrome

Cochrane evidence based reviews: lutembacher syndrome

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Genetic Tests for Lutembacher's Syndrome

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Anatomical Context for Lutembacher's Syndrome

Organs/tissues related to Lutembacher's Syndrome:

MalaCards : Heart, Brain

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Publications for Lutembacher's Syndrome

Articles related to Lutembacher's Syndrome:

(show top 50) (show all 195)

#	Title	Authors	PMID	Year
1	Pacemaker Lead-induced Tricuspid Valve Stenosis and Reverse Lutembacher Syndrome. ⁶²	Yamazaki Y...Yamamoto H	34921816	2022
2	Lutembacher Syndrome with Sinus Venosus-Type Interatrial Communication: An Educational Presentation. ⁶²	Lordsleem ABMDS...Markman-Filho B	35436078	2022
3	Right Atrial Thrombus Presenting as Platypnea-Orthodeoxia Secondary to Reverse Lutembacher Syndrome: A Case Report. ⁶²	Hamid K...Yu JC	35836710	2022
4	Non-surgical treatment of Lutembacher syndrome: combined percutaneous transcatheter therapy. ⁶²	Johny D...Rao A	35584855	2022
5	Rapid progression of mitral stenosis after atrial septal defect closure in a Lutembacher's syndrome patient. ⁶²	Yang Z...Wei J	35060199	2022
6	Lutembacher syndrome presenting as heart failure in a young Nigerian at Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife: a case report. ⁶²	Ojo OE...Obasanjo AL	35909428	2022
7	Transcatheter Implantation of Interatrial Shunt Devices to Lower Left Atrial Pressure in Heart Failure. ⁶²	Jorgensen TH...Sondergaard L	36262198	2022
8	Does patent foramen ovale presence procure favourable outcomes in patients with severe rheumatic mitral stenosis? ⁶²	Babur Guler G...Erturk M	34109513	2021
9	Acquired Lutembacher's Syndrome With a Continuous Murmur. ⁶²	Ali M...Tajik AJ	34430772	2021
10	Surgical Treatment of Lutembacher Syndrome with a Huge Right Atrium: A Case Report. ⁶²	Yang M...Wu J	33904817	2021
11	Total surgical correction of Lutembacher syndrome associated with partial anomalous connection of the pulmonary veins and tricuspid regurgitation. ⁶²	Pomerantzeff PM...Jatene FB	34548950	2021
12	An Incidental Diagnosis of Rheumatic Mitral Stenosis and Secundum Atrial Septal Defect (Lutembacher's Syndrome) in a Young Woman. ⁶²	Alam MM...Khaled MFI	31781405	2019
13	Combined Percutaneous Procedure in Patient with Lutembacher Syndrome: A Case Report and Real-World Experience Review. ⁶²	Phan QT...Kim S	30627291	2018
14	Surgical challenge in situs inversus with dextrocardia and Lutembacher syndrome. ⁶²	Jenasamant SS...Geelani MA	29214824	2018
15	Sinus venosus atrial septal defect with severe mitral stenosis: a rare variant of Lutembacher's syndrome. ⁶²	Kale SB...Senthilkumar R	33060929	2018
16	Lutembacher syndrome with mitral valve calcification in a 31-year old male. ⁶²	Adam AM...Makhdoom IM	29786701	2018
17	Percutaneous Transcatheter Treatment of Lutembacher Syndrome. ⁶²	Mathur R...Baroopal A	30341855	2018
18	Lutembacher syndrome: Dilemma of doing a tricuspid annuloplasty. ⁶²	Varsha AV...Sahajanandan R	28994686	2017
19	Iatrogenic Lutembacher Syndrome after Percutaneous Mitral Commissurotomy. ⁶²	Karamitsos TD...Hadjimiltiades S	29092127	2017
20	Lutembacher syndrome variant: Rheumatic heart disease involving all four valves and associated with an atrial septal defect in a child. ⁶²	Karadawi N...Ali SKM	29545668	2017
21	Lutembacher's syndrome: Is the mitral pathology always rheumatic? ⁶²	Vaideeswar P...Marathe S	28228300	2017
22	Is Transoesophageal Echocardiography Necessary for the Percutaneous Management of Lutembacher Syndrome: A Case Report. ⁶²	Kamana VK...Malpe UP	27891380	2016
23	Current diagnostic and treatment strategies for Lutembacher syndrome: the pivotal role of echocardiography. ⁶²	Aminde LN...Kengne AP	25984452	2015
24	Successful ablation of a concealed accessory pathway mediated tachycardia in a patient with Lutembacher syndrome. ⁶²	Boochi Babu M...Yogesh K	25295495	2014
25	Surgical correction of Lutembacher's syndrome in a patient with severe pulmonary artery hypertension. ⁶²	Khanna SN...Sharma KK	24827112	2014
26	Occurrence of Lutembacher syndrome in a rural regional hospital: case report from Buea, Cameroon. ⁶²	Aminde LN...Tantchou JC	25009795	2014
27	Successful percutaneous management of Lutembacher syndrome. ⁶²	Goel S...Wardhan H	24973844	2014
28	[Percutaneous mitral commissurotomy associated to sinus venosus atrial septal defect and partially anomalous pulmonary venous connection: a case report]. ⁶²	Fradi El Faleh I...Mechmeche R	22436630	2014
29	Transcatheter therapy for Lutembacher's syndrome: The road less travelled. ⁶²	Vadivelu R...Bagga S	24701084	2014
30	Echocardiographic assessment of Lutembacher syndrome. ⁶²	Tezcan M...Uz O	25081115	2014
31	Lutembacher's Syndrome Associated with Meningioma. ⁶²	Ghiasi M...Ghadrdoost B	25478492	2013
32	Lutembacher syndrome with unroofed left superior vena cava: a diagnostic dilemma. ⁶²	Awasthy N...Iyer KS	23064838	2013
33	Substantive treatment of Lutembacher's syndrome by the trans-septal puncture technique: a case report and review. ⁶²	Malviya A...Mishra A	27326136	2013
34	Concomitant tuberculous meningitis and Lutembacher syndrome with multiple atrial septal defects and infective endocarditis. ⁶²	Firdous S	23058155	2012
35	Lutembacher's syndrome. ⁶²	Kulkarni SS...Shah KB	22629045	2012
36	Percutaneous treatment of Lutembacher syndrome in a case with difficult mitral valve crossing. ⁶²	Bhambhani A...Somanath HS	22388316	2012
37	Turbulent left-to-right shunt flow through the interatrial septum suggesting high left atrial pressure in patients with heart failure with preserved ejection fraction. ⁶²	Hayato K...Doi Y	27277178	2011
38	A rare case of situs inversus with dextrocardia, lutembacher syndrome, and pericardial effusion. ⁶²	Jain VV...Jain J	22567197	2011
39	Platypnea-orthodeoxia syndrome associated with bioprosthetic tricuspid valve stenosis and reverse Lutembacher syndrome. ⁶²	Burke MA...Mikati IA	21300958	2011
40	[Temporary occlusion of atrial septal defect in the Lutembacher syndrome]. ⁶²	Contreras AE...Peirone AR	21893451	2011
41	Trans-catheter therapy of Lutembacher syndrome: a case report. ⁶²	Behjatiardakani M...Rafiei R	21713755	2011
42	[Percutaneous treatment of Lutembacher syndrome: a case report]. ⁶²	Ozdemir AO...Atmaca Y	20215845	2010
43	Use of the Amplatzer ASD Occluder for closing a persistent left vertical vein. ⁶²	Zanchetta M...Pedon L	18791763	2009
44	Partial anomalous pulmonary venous connection associated with Lutembacher's syndrome. ⁶²	Anwar AM...Chamsi-Pasha H	18177387	2008
45	Transcatheter treatment of Lutembacher's syndrome. ⁶²	Shabbir M...Akhtar K	18454897	2008
46	Transcatheter therapy of Lutembacher syndrome. ⁶²	Ho CL...Hwang B	17591586	2007
47	[Percutaneous mitral commissurotomy and Lutembacher syndrome]. ⁶²	Belghiti H...Benomar M	16792032	2006
48	A successfully operated case of prosthetic valve thrombosis during planned pregnancy. ⁶²	Soeda M...Sezai Y	16572080	2006
49	Lutembacher syndrome: an ideal combination for percutaneous treatment. ⁶²	Cheng TO	16537037	2006
50	Transcatheter treatment of Lutembacher syndrome. ⁶²	Shen XQ...Lv XL	16336826	2005

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Genes for Lutembacher's Syndrome

Genes related to Lutembacher's Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ENTPD5	Ectonucleoside Triphosphate Diphosphohydrolase 5 (Inactive)	Protein Coding	5.54	DISEASES inferred ¹⁴
2	MFAP3	Microfibril Associated Protein 3	Protein Coding	5.15	DISEASES inferred ¹⁴
3	ART1	ADP-Ribosyltransferase 1	Protein Coding	3.98	DISEASES inferred ¹⁴
4	RAMP2	Receptor Activity Modifying Protein 2	Protein Coding	3.88	DISEASES inferred ¹⁴
5	TBX20	T-Box Transcription Factor 20	Protein Coding	3.72	DISEASES inferred ¹⁴
6	C1GALT1	Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1	Protein Coding	3.68	DISEASES inferred ¹⁴
7	SOX18	SRY-Box Transcription Factor 18	Protein Coding	3.63	DISEASES inferred ¹⁴
8	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	3.61	DISEASES inferred ¹⁴

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Variations for Lutembacher's Syndrome

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Expression for Lutembacher's Syndrome

Search GEO for disease gene expression data for Lutembacher's Syndrome.

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Pathways for Lutembacher's Syndrome

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GO Terms for Lutembacher's Syndrome

Cellular components related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	adrenomedullin receptor complex	GO:1903143	8.92	RAMP2 CALCRL

Biological processes related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	angiogenesis	GO:0001525	9.76	SOX18 RAMP2 CALCRL C1GALT1
2	heart looping	GO:0001947	9.73	TBX20 SOX18
3	heart development	GO:0007507	9.72	SOX18 RAMP2 CALCRL
4	receptor internalization	GO:0031623	9.67	RAMP2 CALCRL
5	outflow tract morphogenesis	GO:0003151	9.58	TBX20 SOX18
6	embryonic heart tube development	GO:0035050	9.43	TBX20 SOX18
7	vasculogenesis	GO:0001570	9.43	TBX20 SOX18 RAMP2
8	adrenomedullin receptor signaling pathway	GO:1990410	8.92	RAMP2 CALCRL

Molecular functions related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	adrenomedullin receptor activity	GO:0001605	9.26	RAMP2 CALCRL
2	adrenomedullin binding	GO:1990409	8.92	RAMP2 CALCRL

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Sources for Lutembacher's Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LTM001 MIFTS: 26	Lutembacher's Syndrome Categories: Cardiovascular diseases	Data Licensing For inquiries, contact: [email protected]
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