IRVH
MCID: RGH010
MIFTS: 19

Right Ventricular Hypoplasia, Isolated (IRVH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Right Ventricular Hypoplasia, Isolated

MalaCards integrated aliases for Right Ventricular Hypoplasia, Isolated:

Name: Right Ventricular Hypoplasia, Isolated 57
Isolated Hypoplasia of the Right Ventricle 72
Isolated Right Ventricular Hypoplasia 59
Irvh 57

Characteristics:

Orphanet epidemiological data:

59
isolated right ventricular hypoplasia
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
right ventricular hypoplasia, isolated:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 277200
ICD10 via Orphanet 34 Q22.6
UMLS via Orphanet 73 C1848587
Orphanet 59 ORPHA439
MedGen 42 C1848587
UMLS 72 C1848587

Summaries for Right Ventricular Hypoplasia, Isolated

MalaCards based summary : Right Ventricular Hypoplasia, Isolated, also known as isolated hypoplasia of the right ventricle, is related to right ventricle hypoplasia and patent foramen ovale. Affiliated tissues include heart and testes, and related phenotype is hypoplasia of right ventricle.

More information from OMIM: 277200

Related Diseases for Right Ventricular Hypoplasia, Isolated

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

# Related Disease Score Top Affiliating Genes
1 right ventricle hypoplasia 11.4
2 patent foramen ovale 10.1
3 tricuspid atresia 10.0
4 cyanosis, transient neonatal 10.0
5 pulmonary hypertension 10.0
6 dilated cardiomyopathy 10.0
7 heart septal defect 10.0
8 atrial heart septal defect 10.0
9 congestive heart failure 10.0

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



Diseases related to Right Ventricular Hypoplasia, Isolated

Symptoms & Phenotypes for Right Ventricular Hypoplasia, Isolated

Human phenotypes related to Right Ventricular Hypoplasia, Isolated:

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of right ventricle 32 HP:0004762

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypoplasia of right ventricle
hypoplasia of tricuspid valve

Clinical features from OMIM:

277200

Drugs & Therapeutics for Right Ventricular Hypoplasia, Isolated

Search Clinical Trials , NIH Clinical Center for Right Ventricular Hypoplasia, Isolated

Genetic Tests for Right Ventricular Hypoplasia, Isolated

Anatomical Context for Right Ventricular Hypoplasia, Isolated

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

41
Heart, Testes

Publications for Right Ventricular Hypoplasia, Isolated

Articles related to Right Ventricular Hypoplasia, Isolated:

(show all 26)
# Title Authors PMID Year
1
Familial occurrence of isolated right ventricular hypoplasia. 38 8
10706354 2000
2
Isolated right ventricular hypoplasia with atrial septal defect or patent foramen ovale. 38 8
14495868 1961
3
Hypoplasia of right ventricle and tricuspid valve in three siblings. 8
5093262 1971
4
Hypoplasia of the right ventricle and tricuspid valve in siblings. 8
6070007 1967
5
Isolated hypoplasia of the right ventricle and tricuspid valve in siblings. 8
13768823 1961
6
Asymptomatic Right Ventricular Hypoplasia in Twin Siblings: A Normal Variant or Cause of Early Mortality? 38
30805240 2019
7
Transient and anatomic isolated right-ventricular hypoplasia. 38
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. 38
27377631 2016
9
Magnetic resonance imaging findings of isolated right ventricular hypoplasia. 38
23192444 2012
10
Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle. 38
15619280 2005
11
Isolated hypoplasia of right ventricle with atrial septal defect: a rare form of cyanotic heart disease. 38
10547948 1999
12
Isolated right ventricular hypoplasia: intraoperative balloon occlusion test. 38
9485270 1998
13
Right to left shunting in atrial septal defect due to isolated right ventricular hypoplasia. 38
7821941 1994
14
Right ventricular hypoplasia: outcome after conservative perinatal management. 38
7941919 1994
15
[A case report: successful direct closure of atrial septal defect in isolated right ventricular hypoplasia]. 38
1542200 1992
16
A case of right atrial thrombosis associated with isolated right ventricular hypoplasia. 38
2131289 1990
17
[Isolation right ventricular hypoplasia: report of two cases]. 38
2636640 1989
18
[A case report of isolated right ventricular hypoplasia: hemodynamic evaluation of 11 years following ASD closure]. 38
3235873 1988
19
[A successful surgical correction of isolated right ventricular hypoplasia with a large atrial septal defect after 3 conservative shunt operations]. 38
2419461 1985
20
[Isolated hypoplasia of the right ventricle with interatrial communication. Study of a case and review of the literature]. 38
6223549 1983
21
[Isolated right ventricular hypoplasia]. 38
738906 1978
22
[Hypoplasia of the right ventricle with interatrial communication through the coronary sinus]. 38
886756 1977
23
[Case of isolated right ventricular hypoplasia]. 38
5063819 1972
24
Isolated right ventricular hypoplasia. 38
5097448 1971
25
Isolated right ventricular hypoplasia. 38
5794807 1969
26
Isolated right ventricular hypoplasia with atrial septal defect. 38
13944601 1963

Variations for Right Ventricular Hypoplasia, Isolated

Expression for Right Ventricular Hypoplasia, Isolated

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

Pathways for Right Ventricular Hypoplasia, Isolated

GO Terms for Right Ventricular Hypoplasia, Isolated

Sources for Right Ventricular Hypoplasia, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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