MCID: RGH003
MIFTS: 13

Right Ventricle Hypoplasia

Categories: Rare diseases

Aliases & Classifications for Right Ventricle Hypoplasia

MalaCards integrated aliases for Right Ventricle Hypoplasia:

Name: Right Ventricle Hypoplasia 53
Isolated Hypoplasia of the Right Ventricle 53 73
Isolated Right Ventricular Hypoplasia 53
Hypoplasia of the Right Ventricle 53
Right Ventricular Hypoplasia 53

Classifications:



External Ids:

UMLS 73 C1848587

Summaries for Right Ventricle Hypoplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 439Disease definitionIsolated 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 Ventricle Hypoplasia, also known as isolated hypoplasia of the right ventricle, is related to right ventricular hypoplasia, isolated and tricuspid atresia. An important gene associated with Right Ventricle Hypoplasia is HAND2-AS1 (HAND2 Antisense RNA 1
Hand2-associated long non-coding RNA upperhand (Uph) is required to maintain the super-enhancer signature and elongation of RNA polymerase II through the Hand2 enhancer locus.
Dysfunction Pattern: Locus). Affiliated tissues include heart.

Related Diseases for Right Ventricle Hypoplasia

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

# Related Disease Score Top Affiliating Genes
1 right ventricular hypoplasia, isolated 11.2
2 tricuspid atresia 10.0
3 ventricular septal defect 9.8
4 transposition of the great arteries 9.8

Symptoms & Phenotypes for Right Ventricle Hypoplasia

Drugs & Therapeutics for Right Ventricle Hypoplasia

Search Clinical Trials , NIH Clinical Center for Right Ventricle Hypoplasia

Genetic Tests for Right Ventricle Hypoplasia

Anatomical Context for Right Ventricle Hypoplasia

MalaCards organs/tissues related to Right Ventricle Hypoplasia:

41
Heart

Publications for Right Ventricle Hypoplasia

Articles related to Right Ventricle Hypoplasia:

# Title Authors Year
1
Prenatal Echocardiographic Predictors of Postnatal Management Strategy in the Fetus with Right Ventricle Hypoplasia and Pulmonary Atresia or Stenosis. ( 28770306 )
2017
2
Deletion of Cdc42 in embryonic cardiomyocytes results in right ventricle hypoplasia. ( 29101495 )
2017
3
Isolated right ventricular hypoplasia caused by giant aneurysm of right coronary artery to left ventricle fistula in an adult: a case report. ( 27377631 )
2016
4
Magnetic resonance imaging findings of isolated right ventricular hypoplasia. ( 23192444 )
2012
5
A case of right atrial thrombosis associated with isolated right ventricular hypoplasia. ( 2131289 )
1990
6
[Isolated right ventricular hypoplasia]. ( 738906 )
1978

Variations for Right Ventricle Hypoplasia

Expression for Right Ventricle Hypoplasia

Search GEO for disease gene expression data for Right Ventricle Hypoplasia.

Pathways for Right Ventricle Hypoplasia

GO Terms for Right Ventricle Hypoplasia

Sources for Right Ventricle Hypoplasia

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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