MCID: CNG346
MIFTS: 14

Congenital Aortic Valve Insufficiency

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Congenital Aortic Valve Insufficiency

MalaCards integrated aliases for Congenital Aortic Valve Insufficiency:

Name: Congenital Aortic Valve Insufficiency 59
Congenital Insufficiency of Aortic Valve 72 33

Classifications:



External Ids:

ICD10 33 Q23.1
ICD10 via Orphanet 34 Q23.1
UMLS via Orphanet 73 C0158617
Orphanet 59 ORPHA95449
UMLS 72 C0158617

Summaries for Congenital Aortic Valve Insufficiency

MalaCards based summary : Congenital Aortic Valve Insufficiency, also known as congenital insufficiency of aortic valve, is related to aortic valve disease 1 and aortic valve insufficiency. Affiliated tissues include heart.

Related Diseases for Congenital Aortic Valve Insufficiency

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Aortic Valve Disease 3 Congenital Aortic Valve Insufficiency

Diseases related to Congenital Aortic Valve Insufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic valve disease 1 10.6
2 aortic valve insufficiency 10.1

Comorbidity relations with Congenital Aortic Valve Insufficiency via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease

Symptoms & Phenotypes for Congenital Aortic Valve Insufficiency

Drugs & Therapeutics for Congenital Aortic Valve Insufficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry Study of Aortic Valve Diseases in Chinese Elderly Not yet recruiting NCT02623907

Search NIH Clinical Center for Congenital Aortic Valve Insufficiency

Genetic Tests for Congenital Aortic Valve Insufficiency

Anatomical Context for Congenital Aortic Valve Insufficiency

MalaCards organs/tissues related to Congenital Aortic Valve Insufficiency:

41
Heart

Publications for Congenital Aortic Valve Insufficiency

Articles related to Congenital Aortic Valve Insufficiency:

# Title Authors PMID Year
1
Outcome of aortic valve repair in children with congenital aortic valve insufficiency. 38
15052192 2004
2
[Ross procedure instead of heart transplantation. Recovery potential of the dysfunctional myocardium in heart failure caused by congenital aortic valve insufficiency]. 38
12224454 2002
3
Right coronary-left ventricular fistula mimicking aortic valve insufficiency in infancy. 38
7300410 1981

Variations for Congenital Aortic Valve Insufficiency

Expression for Congenital Aortic Valve Insufficiency

Search GEO for disease gene expression data for Congenital Aortic Valve Insufficiency.

Pathways for Congenital Aortic Valve Insufficiency

GO Terms for Congenital Aortic Valve Insufficiency

Sources for Congenital Aortic Valve Insufficiency

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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