MCID: HYP223
MIFTS: 38

Hypoplastic Right Heart Syndrome

Categories: Blood diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome 12 53 6 15
Right Hypoplastic Heart Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0070315
ICD10 33 Q22.6
UMLS 73 C0344963

Summaries for Hypoplastic Right Heart Syndrome

NIH Rare Diseases : 53 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 Citric Acid and Phosphodiesterase 5 Inhibitors 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 : 76 Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right... more...

Related Diseases for Hypoplastic Right Heart Syndrome

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



Diseases related to Hypoplastic Right Heart Syndrome

Symptoms & Phenotypes for Hypoplastic Right Heart Syndrome

MGI Mouse Phenotypes related to Hypoplastic Right Heart Syndrome:

46 (show all 12)
# 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

Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
2 Phosphodiesterase 5 Inhibitors Phase 1
3 Sildenafil Citrate Phase 1 171599-83-0
4 Phosphodiesterase Inhibitors Phase 1
5 Vasodilator Agents Phase 1
6 Citrate Phase 1

Interventional clinical trials:


# 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

Genetic Tests for Hypoplastic Right Heart Syndrome

Anatomical Context for Hypoplastic Right Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Right Heart Syndrome:

41
Heart, Lung, Testis

Publications for Hypoplastic Right Heart Syndrome

Articles related to Hypoplastic Right Heart Syndrome:

(show all 18)
# Title Authors Year
1
Copy number variants in hypoplastic right heart syndrome. ( 30289599 )
2018
2
Resuscitation of a Newborn with Right Hypoplastic Heart Syndrome: A Rare Confrontation for an Anesthesiologist. ( 29284892 )
2017
3
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. ( 28009100 )
2016
4
Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. ( 27751299 )
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 )
2014
6
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ( 26866104 )
2013
7
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ( 26866175 )
2013
8
Hypoplastic right-heart syndrome presenting as multiple miscarriages. ( 22740745 )
2012
9
Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). ( 17323405 )
2007
10
Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. ( 9476678 )
1997
11
Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. ( 3281992 )
1988
12
Magnetic resonance imaging in patients with hypoplastic right heart syndrome. ( 4013974 )
1985
13
Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. ( 6225563 )
1983
14
Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. ( 620589 )
1978
15
Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. ( 661054 )
1978
16
Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. ( 1156498 )
1975
17
Surgical management of the hypoplastic right heart syndrome. ( 5484627 )
1970
18
Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. ( 4224286 )
1966

Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh37 Chromosome 7, 35244090: 35244090
2 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh38 Chromosome 7, 35204478: 35204478

Expression for Hypoplastic Right Heart Syndrome

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

Pathways for Hypoplastic Right Heart Syndrome

GO Terms for Hypoplastic Right Heart Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.92 NOTCH1 RBL2 SALL1 TBX20 TWIST1
2 negative regulation of transcription, DNA-templated GO:0045892 9.89 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:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 ERBB4 FGF19 SOS1

Sources for Hypoplastic Right Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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