MCID: PTN011
MIFTS: 15

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 53
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome 55
Patent Arterial Duct-Bicuspid Aortic Valve-Hand Anomalies Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
patent ductus arteriosus and bicuspid aortic valve with hand anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 604381
Orphanet 55 ORPHA228190
UMLS via Orphanet 70 C1858420
ICD10 via Orphanet 33 Q87.2
MedGen 39 C1858420

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 patent ductus arteriosus, short 5th metacarpal 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:

53
Cardiovascular Vascular:
patent ductus arteriosus
pseudocoarctation of the aorta

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
fifth metacarpal hypoplasia

Cardiovascular Heart:
bicuspid aortic valve

Skeletal Feet:
brachydactyly


Clinical features from OMIM:

604381

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

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 55 31 obligate (100%) Obligate (100%) HP:0001643
2 short 5th metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010047
3 bicuspid aortic valve 55 31 obligate (100%) Obligate (100%) HP:0001647
4 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
5 abnormal hand morphology 55 31 obligate (100%) Obligate (100%) HP:0005922
6 pseudocoarctation of the aorta 55 31 obligate (100%) Obligate (100%) HP:0005295
7 short digit 55 31 hallmark (90%) Very frequent (99-80%) HP:0011927
8 short toe 31 HP:0001831
9 abnormality of the face 55 Excluded (0%)
10 brachydactyly 31 HP:0001156
11 short finger 31 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:

38
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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