MCID: PTN011
MIFTS: 13

Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies

Categories: Cardiovascular diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

MalaCards integrated aliases for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies:

Name: Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 54
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome 56
Patent Arterial Duct-Bicuspid Aortic Valve-Hand Anomalies Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
patent ductus arteriosus and bicuspid aortic valve with hand anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604381
Orphanet 56 ORPHA228190
UMLS via Orphanet 70 C1858420
ICD10 via Orphanet 34 Q87.2

Summaries for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

MalaCards based summary : Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies, is also known as patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome, and has symptoms including brachydactyly, patent ductus arteriosus and bicuspid aortic valve. Affiliated tissues include bone.

Description from OMIM: 604381

Related Diseases for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Symptoms & Phenotypes for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
bicuspid aortic valve

Skeletal- Hands:
brachydactyly
fifth metacarpal hypoplasia
fifth finger clinodactyly

Cardiovascular- Vascular:
patent ductus arteriosus
pseudocoarctation of the aorta

Skeletal- Feet:
brachydactyly


Clinical features from OMIM:

604381

Human phenotypes related to Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 patent ductus arteriosus 32 HP:0001643
3 bicuspid aortic valve 32 HP:0001647
4 short 5th metacarpal 32 HP:0010047
5 pseudocoarctation of the aorta 32 HP:0005295
6 short toe 32 HP:0001831
7 clinodactyly of the 5th finger 32 HP:0004209
8 short finger 32 HP:0009381

Drugs & Therapeutics for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Search Clinical Trials , NIH Clinical Center for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies

Genetic Tests for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Anatomical Context for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

MalaCards organs/tissues related to Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies:

39
Bone

Publications for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Variations for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Expression for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Search GEO for disease gene expression data for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies.

Pathways for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

GO Terms for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

Sources for Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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