Right Ventricular Hypoplasia, Isolated disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Right Ventricular Hypoplasia, Isolated

MalaCards integrated aliases for Right Ventricular Hypoplasia, Isolated:

Name: Right Ventricular Hypoplasia, Isolated ⁵⁶

Isolated Hypoplasia of the Right Ventricle ⁵² ⁷¹

Isolated Right Ventricular Hypoplasia ⁵² ⁵⁸

Hypoplasia of the Right Ventricle ⁵²

Right Ventricular Hypoplasia ⁵²

Right Ventricle Hypoplasia ⁵²

Irvh ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

isolated right ventricular hypoplasia
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

right ventricular hypoplasia, isolated:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of pulmonary and tricuspid valves

Hypoplastic right heart syndrome

Orphanet: ⁵⁸

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 277200

ICD10 via Orphanet ³³ Q22.6

UMLS via Orphanet ⁷² C1848587

Orphanet ⁵⁸ ORPHA439

MedGen ⁴¹ C1848587

SNOMED-CT via HPO ⁶⁸ 258211005

UMLS ⁷¹ C1848587

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Summaries for Right Ventricular Hypoplasia, Isolated

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 439 Definition Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Visit the Orphanet disease page for more resources.

MalaCards based summary : Right Ventricular Hypoplasia, Isolated, also known as isolated hypoplasia of the right ventricle, is related to tricuspid atresia and patent foramen ovale. An important gene associated with Right Ventricular Hypoplasia, Isolated is HAND2-AS1 (HAND2 Antisense RNA 1). Affiliated tissues include heart and testes, and related phenotype is hypoplasia of right ventricle.

More information from OMIM: 277200

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Related Diseases for Right Ventricular Hypoplasia, Isolated

Diseases related to Right Ventricular Hypoplasia, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 25, show less)

#	Related Disease	Score
1	tricuspid atresia	10.3
2	patent foramen ovale	10.1
3	ventricular septal defect	10.1
4	congestive heart failure	10.1
5	interatrial communication	10.1
6	cor triatriatum	10.0
7	cor triatriatum dexter	10.0
8	cyanosis, transient neonatal	10.0
9	pulmonary hypertension	10.0
10	dilated cardiomyopathy	10.0
11	heart septal defect	10.0
12	atrial heart septal defect	10.0
13	tetralogy of fallot	9.9
14	endocardial fibroelastosis	9.9
15	atrioventricular block	9.9
16	sinoatrial node disease	9.9
17	dextro-looped transposition of the great arteries	9.9
18	sick sinus syndrome	9.9
19	tricuspid valve stenosis	9.9
20	megalencephalic leukoencephalopathy with subcortical cysts 2a	9.9
21	tricuspid valve insufficiency	9.9
22	subvalvular aortic stenosis	9.9
23	single ventricular heart	9.9
24	pulmonary atresia with intact ventricular septum	9.9
25	congenital tricuspid stenosis	9.9

Graphical network of the top 20 diseases related to Right Ventricular Hypoplasia, Isolated:

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Symptoms & Phenotypes for Right Ventricular Hypoplasia, Isolated

Human phenotypes related to Right Ventricular Hypoplasia, Isolated:

³¹ (showing 1, show less)

#	Description	HPO Frequency	HPO Source Accession
1	hypoplasia of right ventricle ³¹		HP:0004762

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiac:
hypoplasia of right ventricle
hypoplasia of tricuspid valve

Clinical features from OMIM:

277200

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Drugs & Therapeutics for Right Ventricular Hypoplasia, Isolated

Interventional clinical trials:

(showing 1, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy	Completed	NCT00165984

Search NIH Clinical Center for Right Ventricular Hypoplasia, Isolated

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Genetic Tests for Right Ventricular Hypoplasia, Isolated

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Anatomical Context for Right Ventricular Hypoplasia, Isolated

MalaCards organs/tissues related to Right Ventricular Hypoplasia, Isolated:

⁴⁰

Heart, Testes

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Publications for Right Ventricular Hypoplasia, Isolated

Articles related to Right Ventricular Hypoplasia, Isolated:

(showing 26, show less)

#	Title	Authors	PMID	Year
1	Familial occurrence of isolated right ventricular hypoplasia. ⁵⁶ ⁶¹	Chessa M...Carminati M	10706354	2000
2	Isolated right ventricular hypoplasia with atrial septal defect or patent foramen ovale. ⁶¹ ⁵⁶	SACKNER MA...LEWIS DH	14495868	1961
3	Hypoplasia of right ventricle and tricuspid valve in three siblings. ⁵⁶	Becker AE...Edwards JE	5093262	1971
4	Hypoplasia of the right ventricle and tricuspid valve in siblings. ⁵⁶	Davachi F...Edwards JE	6070007	1967
5	Isolated hypoplasia of the right ventricle and tricuspid valve in siblings. ⁵⁶	MEDD WE...EDWARDS JE	13768823	1961
6	Asymptomatic Right Ventricular Hypoplasia in Twin Siblings: A Normal Variant or Cause of Early Mortality? ⁶¹	Qasim A...Aly AM	30805240	2019
7	Transient and anatomic isolated right-ventricular hypoplasia. ⁶¹	Lombardi M...Vairo U	27042895	2016
8	Isolated right ventricular hypoplasia caused by giant aneurysm of right coronary artery to left ventricle fistula in an adult: a case report. ⁶¹	Zhu F...Gao H	27377631	2016
9	Magnetic resonance imaging findings of isolated right ventricular hypoplasia. ⁶¹	Kim H...Kim WH	23192444	2012
10	Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle. ⁶¹	Atiq M...Benson LN	15619280	2005
11	Isolated hypoplasia of right ventricle with atrial septal defect: a rare form of cyanotic heart disease. ⁶¹	Joy MV...Subramanyan R	10547948	1999
12	Isolated right ventricular hypoplasia: intraoperative balloon occlusion test. ⁶¹	Goh K...Kubo Y	9485270	1998
13	Right to left shunting in atrial septal defect due to isolated right ventricular hypoplasia. ⁶¹	Thatai D...Wasir HS	7821941	1994
14	Right ventricular hypoplasia: outcome after conservative perinatal management. ⁶¹	De Wolf D...Losekoot G	7941919	1994
15	[A case report: successful direct closure of atrial septal defect in isolated right ventricular hypoplasia]. ⁶¹	Hasegawa N...Miyazawa Y	1542200	1992
16	A case of right atrial thrombosis associated with isolated right ventricular hypoplasia. ⁶¹	Satokawa H...Maruyama Y	2131289	1990
17	[Isolation right ventricular hypoplasia: report of two cases]. ⁶¹	Kondo O...Kamiya T	2636640	1989
18	[A case report of isolated right ventricular hypoplasia: hemodynamic evaluation of 11 years following ASD closure]. ⁶¹	Haneda K...Horiuchi T	3235873	1988
19	[A successful surgical correction of isolated right ventricular hypoplasia with a large atrial septal defect after 3 conservative shunt operations]. ⁶¹	Sugiki K...Komatsu S	2419461	1985
20	[Isolated hypoplasia of the right ventricle with interatrial communication. Study of a case and review of the literature]. ⁶¹	Cabezuelo-Huerta G...Vazquez-Perez J	6223549	1983
21	[Isolated right ventricular hypoplasia]. ⁶¹	Beitzke A	738906	1978
22	[Hypoplasia of the right ventricle with interatrial communication through the coronary sinus]. ⁶¹	Bondarev IuI...Riumina EN	886756	1977
23	[Case of isolated right ventricular hypoplasia]. ⁶¹	Okada Y...Ishizawa H	5063819	1972
24	Isolated right ventricular hypoplasia. ⁶¹	Van der Hauwaert LG...Michaelsson M	5097448	1971
25	Isolated right ventricular hypoplasia. ⁶¹	Okin JT...Blount SG	5794807	1969
26	Isolated right ventricular hypoplasia with atrial septal defect. ⁶¹	FAY JE...LYNN RB	13944601	1963

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Genes for Right Ventricular Hypoplasia, Isolated

Genes related to Right Ventricular Hypoplasia, Isolated (0 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HAND2-AS1	HAND2 Antisense RNA 1	RNA Gene	150	Experimental evidence: Locus ³⁸	27783597

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Variations for Right Ventricular Hypoplasia, Isolated

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Expression for Right Ventricular Hypoplasia, Isolated

Search GEO for disease gene expression data for Right Ventricular Hypoplasia, Isolated.

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Pathways for Right Ventricular Hypoplasia, Isolated

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GO Terms for Right Ventricular Hypoplasia, Isolated

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⁷¹ UMLS

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⁷⁴ Wikipedia

Right Ventricular Hypoplasia, Isolated (IRVH)

Aliases & Classifications for Right Ventricular Hypoplasia, Isolated

MalaCards integrated aliases for Right Ventricular Hypoplasia, Isolated:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Right Ventricular Hypoplasia, Isolated

Related Diseases for Right Ventricular Hypoplasia, Isolated

Diseases related to Right Ventricular Hypoplasia, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Right Ventricular Hypoplasia, Isolated:

Symptoms & Phenotypes for Right Ventricular Hypoplasia, Isolated

Human phenotypes related to Right Ventricular Hypoplasia, Isolated:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Right Ventricular Hypoplasia, Isolated

Interventional clinical trials:

Genetic Tests for Right Ventricular Hypoplasia, Isolated

Anatomical Context for Right Ventricular Hypoplasia, Isolated

MalaCards organs/tissues related to Right Ventricular Hypoplasia, Isolated:

Publications for Right Ventricular Hypoplasia, Isolated

Articles related to Right Ventricular Hypoplasia, Isolated:

Genes for Right Ventricular Hypoplasia, Isolated

Genes related to Right Ventricular Hypoplasia, Isolated (0 elite genes):

Variations for Right Ventricular Hypoplasia, Isolated

Expression for Right Ventricular Hypoplasia, Isolated

Pathways for Right Ventricular Hypoplasia, Isolated

GO Terms for Right Ventricular Hypoplasia, Isolated

Sources for Right Ventricular Hypoplasia, Isolated