Hypoplastic Right Heart Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome ¹² ⁵⁴ ⁶ ¹⁵

Right Hypoplastic Heart Syndrome ⁷⁴

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of pulmonary and tricuspid valves

Hypoplastic right heart syndrome

External Ids:

Disease Ontology ¹² DOID:0070315

ICD10 ³⁴ Q22.6

UMLS ⁷⁴ C0344963

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Summaries for Hypoplastic Right Heart Syndrome

NIH Rare Diseases : ⁵⁴ Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.

MalaCards based summary : Hypoplastic Right Heart Syndrome, also known as right hypoplastic heart syndrome, is related to pulmonary atresia with intact ventricular septum and right ventricular hypoplasia, isolated. An important gene associated with Hypoplastic Right Heart Syndrome is TBX20 (T-Box 20), and among its related pathways/superpathways are Regulation of actin cytoskeleton and G-protein signaling RAC1 in cellular process. The drugs Sodium Citrate and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testis, and related phenotypes are cardiovascular system and cellular

Disease Ontology : ¹² A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.

Wikipedia : ⁷⁷ Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right... more...

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Related Diseases for Hypoplastic Right Heart Syndrome

Diseases related to Hypoplastic Right Heart Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 14, show less)

#	Related Disease	Score	Top Affiliating Genes
1	pulmonary atresia with intact ventricular septum	10.6
2	right ventricular hypoplasia, isolated	10.6
3	atrial septal aneurysm	10.1
4	hematocele of tunica vaginalis testis	10.0	F10 TWIST1
5	endocardial fibroelastosis	9.9
6	tricuspid atresia	9.9
7	single ventricular heart	9.9
8	atrial heart septal defect	9.9
9	complete atrioventricular canal	9.9
10	granulomatous angiitis	9.8	NOTCH1 SLC4A1
11	schneiderian carcinoma	9.8	NOTCH1 RBL2
12	hallermann-streiff syndrome	9.7	ERBB4 NOTCH1
13	heart disease	9.6	NOTCH1 SALL1 SOS1 TBX20
14	aortic valve disease 1	9.5	NOTCH1 SOS1 TBX20 TWIST1

Graphical network of the top 20 diseases related to Hypoplastic Right Heart Syndrome:

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Symptoms & Phenotypes for Hypoplastic Right Heart Syndrome

MGI Mouse Phenotypes related to Hypoplastic Right Heart Syndrome:

⁴⁷ (showing 12, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.32	ERBB4 F10 FGF19 ITGB8 MYLK3 NOTCH1
2	cellular	MP:0005384	10.24	EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
3	embryo	MP:0005380	10.13	ERBB4 FGF19 ITGB8 NOTCH1 RBL2 RPGRIP1L
4	growth/size/body region	MP:0005378	10.1	FGF19 ITGB8 NOTCH1 RBL2 RPGRIP1L SALL1
5	mortality/aging	MP:0010768	10.1	EPB41L3 ERBB4 F10 FGF19 ITGB8 MYLK3
6	craniofacial	MP:0005382	10.02	ERBB4 ITGB8 NOTCH1 RBL2 RPGRIP1L SOS1
7	homeostasis/metabolism	MP:0005376	10.02	F10 FGF19 ITGB8 MYLK3 NOTCH1 RBL2
8	digestive/alimentary	MP:0005381	9.93	ITGB8 NOTCH1 RPGRIP1L SALL1 SOS1 TWIST1
9	muscle	MP:0005369	9.81	ERBB4 MYLK3 NOTCH1 RBL2 RPGRIP1L SLC4A1
10	hearing/vestibular/ear	MP:0005377	9.77	FGF19 NOTCH1 RBL2 RPGRIP1L SALL1
11	nervous system	MP:0003631	9.65	EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
12	normal	MP:0002873	9.17	EPB41L3 ERBB4 ITGB8 NOTCH1 RBL2 SALL1

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Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

Drugs for Hypoplastic Right Heart Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 7, show less)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Sodium Citrate

Approved, Investigational

Phase 1

68-04-2

Synonyms:

Anhydrous sodium citrate

Anhydrous trisodium citrate

Citric acid, trisodium salt

Natrii citras

Natrocitral

Sodium citrate anhydrous

Sodium citrate, anhydrous

Sodium citrate,anhydrous

trisodium citrate anhydrous

Trisodium citrate, anhydrous

Trisodium-citrate

2

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 1

77-92-9

311

Synonyms:

2-hydroxy-1,2,3-propanetricarboxyic acid

2-Hydroxy-1,2,3-propanetricarboxylate

2-Hydroxy-1,2,3-propanetricarboxylic acid

2-Hydroxytricarballylate

2-Hydroxytricarballylic acid

3-Carboxy-3-hydroxypentane-1,5-dioate

3-carboxy-3-hydroxypentane-1,5-dioic acid

3-Carboxy-3-hydroxypentane-1,5-dioic acid

Acid monohydrate, citric

ácido cítrico

Acidum citricum

Aciletten

Anhydrous citrate

Anhydrous citric acid

beta-Hydroxytricarballylate

beta-Hydroxytricarballylic acid

Chemfill

Citraclean

Citrate

Citretten

Citric acid monoglyceride

Citric acid monohydrate

Citric acid, anhydrous

Citric Acid, Anhydrous

Citric acid,anhydrous

Citro

Citronensaeure

Citronensäure

e 330

e330

H3Cit

Hydrocerol a

Kyselina citronova

Monohydrate, citric acid

Suby g

Uralyt u

uro-Trainer

3

Phosphodiesterase Inhibitors

Phase 1

4

Sildenafil Citrate

Phase 1

171599-83-0

5

Vasodilator Agents

Phase 1

6

Citrate

Phase 1

7

Phosphodiesterase 5 Inhibitors

Phase 1

Interventional clinical trials:

(showing 3, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Sildenafil in Single Ventricle Patients	Completed	NCT01169519	Phase 1	Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
2	Genetic Determinants of Congenital Heart Disease Outcomes	Recruiting	NCT01656941
3	Initiation of Resuscitation While Attached to the Cord With Congenital Heart Disease	Recruiting	NCT03690245	Not Applicable

Search NIH Clinical Center for Hypoplastic Right Heart Syndrome

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Genetic Tests for Hypoplastic Right Heart Syndrome

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Anatomical Context for Hypoplastic Right Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Right Heart Syndrome:

⁴²

Heart, Lung, Testis

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Publications for Hypoplastic Right Heart Syndrome

Articles related to Hypoplastic Right Heart Syndrome:

(showing 17, show less)

#	Title	Authors	Year
1	Copy number variants in hypoplastic right heart syndrome. ( 30289599 )	Giannakou A...Mills JL	2018
2	Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. ( 28009100 )	Dimopoulos A...Mills JL	2017
3	Resuscitation of a Newborn with Right Hypoplastic Heart Syndrome: A Rare Confrontation for an Anesthesiologist. ( 29284892 )	Kadam PG...Patel RR	2017
4	Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. ( 27751299 )	Mohan JC...Sethi A	2016
5	"Rigid body rotation" of the left ventricle in hypoplastic right-heart syndrome: a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. ( 24932961 )	Nemes A...Forster T	2015
6	LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ( 26866104 )	Yuko-Jowi C...Okello CA	2013
7	Hypoplastic right-heart syndrome presenting as multiple miscarriages. ( 22740745 )	Dib C...Ammash NM	2012
8	Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). ( 17323405 )	Chen CP...Wang W	2007
9	Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. ( 9476678 )	Sharma J...Alonso ML	1997
10	Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. ( 3281992 )	O'Connor WN...Noonan JA	1988
11	Magnetic resonance imaging in patients with hypoplastic right heart syndrome. ( 4013974 )	Jacobstein MD...Riemenschneider TA	1985
12	Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. ( 6225563 )	Bass JL...Lock JE	1983
13	Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. ( 620589 )	Sahn DJ...Goldberg SJ	1978
14	Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. ( 661054 )	Vigorita V	1978
15	Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. ( 1156498 )	Yacoub M...Radley-Smith R	1975
16	Surgical management of the hypoplastic right heart syndrome. ( 5484627 )	Weldon CS...Ferguson TB	1970
17	Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. ( 4224286 )	Morgan AD...Shanklin DR	1966

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Genes for Hypoplastic Right Heart Syndrome

Genes related to Hypoplastic Right Heart Syndrome (1 elite genes):

(showing 14, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TBX20	T-Box 20	Protein Coding	417.72	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	ITGB8	Integrin Subunit Beta 8	Protein Coding	16.02	DISEASES inferred ¹⁵
3	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.68	DISEASES inferred ¹⁵
4	EPB41L3	Erythrocyte Membrane Protein Band 4.1 Like 3	Protein Coding	15.61	DISEASES inferred ¹⁵
5	SALL1	Spalt Like Transcription Factor 1	Protein Coding	15.46	DISEASES inferred ¹⁵
6	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	15.21	DISEASES inferred ¹⁵
7	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	14.82	DISEASES inferred ¹⁵
8	F10	Coagulation Factor X	Protein Coding	14.74	DISEASES inferred ¹⁵
9	FGF19	Fibroblast Growth Factor 19	Protein Coding	14.72	DISEASES inferred ¹⁵
10	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	14.43	DISEASES inferred ¹⁵
11	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	14.15	DISEASES inferred ¹⁵
12	NOTCH1	Notch Receptor 1	Protein Coding	13.49	DISEASES inferred ¹⁵
13	MYLK3	Myosin Light Chain Kinase 3	Protein Coding	6.47	DISEASES inferred ¹⁵
14	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	4.95	DISEASES inferred ¹⁵

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Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

⁶ (showing 2, show less)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TBX20	NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs)	deletion	Pathogenic	rs1554284604	GRCh37	Chromosome 7, 35244090: 35244090
2	TBX20	NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs)	deletion	Pathogenic	rs1554284604	GRCh38	Chromosome 7, 35204478: 35204478

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Expression for Hypoplastic Right Heart Syndrome

Search GEO for disease gene expression data for Hypoplastic Right Heart Syndrome.

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Pathways for Hypoplastic Right Heart Syndrome

Pathways related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 7, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of actin cytoskeleton ³⁸ ¹	12.19	FGF19 ITGB8 MYLK3 SOS1
2	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.97	ERBB4 FGF19 ITGB8 SOS1
3	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	11.94	ERBB4 FGF19 ITGB8 NOTCH1 RBL2 SOS1
4	Proteoglycans in cancer ³⁸	11.88	ERBB4 SOS1 TWIST1
5	Neural Crest Differentiation ¹	11.44	FGF19 NOTCH1 TWIST1
6	G-protein signaling_RhoA regulation pathway ²³	11.15	ERBB4 FGF19 ITGB8 SOS1
7	Cardiac Progenitor Differentiation ¹	10.86	MYLK3 NOTCH1 TBX20

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GO Terms for Hypoplastic Right Heart Syndrome

Biological processes related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 20, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription, DNA-templated	GO:0045892	9.89	NOTCH1 SALL1 TBX20 TWIST1
2	negative regulation of transcription by RNA polymerase II	GO:0000122	9.83	NOTCH1 SALL1 TBX20 TWIST1
3	negative regulation of gene expression	GO:0010629	9.78	FGF19 ITGB8 NOTCH1 RBL2
4	in utero embryonic development	GO:0001701	9.76	NOTCH1 RPGRIP1L TWIST1
5	positive regulation of protein kinase B signaling	GO:0051897	9.73	ERBB4 F10 FGF19
6	embryonic forelimb morphogenesis	GO:0035115	9.58	RPGRIP1L TWIST1
7	ERBB2 signaling pathway	GO:0038128	9.57	ERBB4 SOS1
8	positive regulation of JAK-STAT cascade	GO:0046427	9.55	ERBB4 NOTCH1
9	cardiac muscle tissue morphogenesis	GO:0055008	9.54	NOTCH1 TBX20
10	positive regulation of cardiac muscle cell proliferation	GO:0060045	9.54	ERBB4 NOTCH1 TBX20
11	eyelid development in camera-type eye	GO:0061029	9.51	SOS1 TWIST1
12	outer ear morphogenesis	GO:0042473	9.49	SALL1 TWIST1
13	heart trabecula morphogenesis	GO:0061384	9.46	NOTCH1 SOS1
14	cardiac atrium morphogenesis	GO:0003209	9.43	NOTCH1 SOS1
15	embryonic hindlimb morphogenesis	GO:0035116	9.43	NOTCH1 RPGRIP1L TWIST1
16	olfactory bulb interneuron differentiation	GO:0021889	9.4	ERBB4 SALL1
17	aortic valve morphogenesis	GO:0003180	9.33	NOTCH1 TBX20 TWIST1
18	cardiac chamber formation	GO:0003207	9.32	NOTCH1 TBX20
19	endocardial cushion morphogenesis	GO:0003203	9.13	NOTCH1 TBX20 TWIST1
20	pericardium morphogenesis	GO:0003344	8.8	NOTCH1 SOS1 TBX20

Molecular functions related to Hypoplastic Right Heart Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras guanyl-nucleotide exchange factor activity	GO:0005088	8.32	SOS1

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Sources for Hypoplastic Right Heart Syndrome

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