MCID: RGH010
MIFTS: 16

Right Ventricular Hypoplasia, Isolated

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 58
Isolated Hypoplasia of the Right Ventricle 74
Isolated Right Ventricular Hypoplasia 60
Irvh 58

Characteristics:

Orphanet epidemiological data:

60
isolated right ventricular hypoplasia
Inheritance: Autosomal recessive,Not applicable; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
right ventricular hypoplasia, isolated:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 277200
ICD10 via Orphanet 35 Q22.6
UMLS via Orphanet 75 C1848587
Orphanet 60 ORPHA439
MedGen 43 C1848587
SNOMED-CT via HPO 70 258211005
UMLS 74 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 atrial heart septal defect. Affiliated tissues include heart, and related phenotype is hypoplasia of right ventricle.

Description 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 11.3
2 atrial heart septal defect 10.2
3 thrombosis 9.9
4 patent foramen ovale 9.9

Symptoms & Phenotypes for Right Ventricular Hypoplasia, Isolated

Human phenotypes related to Right Ventricular Hypoplasia, Isolated:

33
# Description HPO Frequency HPO Source Accession
1 hypoplasia of right ventricle 33 HP:0004762

Symptoms via clinical synopsis from OMIM:

58
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:

42
Heart

Publications for Right Ventricular Hypoplasia, Isolated

Articles related to Right Ventricular Hypoplasia, Isolated:

# Title Authors Year
1
Surgical treatment for isolated hypoplasia of the right ventricle. ( 1527159 )
1992
2
Isolated hypoplasia of the right ventricle and tricuspid valve in siblings. ( 13768823 )
1961

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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