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 57
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome 59
Patent Arterial Duct-Bicuspid Aortic Valve-Hand Anomalies Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 604381
Orphanet 59 ORPHA228190
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1858420
MedGen 42 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. Affiliated tissues include bone, and related phenotypes are patent ductus arteriosus and short 5th metacarpal

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:

57
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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 59 32 obligate (100%) Obligate (100%) HP:0001643
2 short 5th metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010047
3 bicuspid aortic valve 59 32 obligate (100%) Obligate (100%) HP:0001647
4 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
5 abnormal hand morphology 59 32 obligate (100%) Obligate (100%) HP:0005922
6 pseudocoarctation of the aorta 59 32 obligate (100%) Obligate (100%) HP:0005295
7 short digit 59 32 hallmark (90%) Very frequent (99-80%) HP:0011927
8 short toe 32 HP:0001831
9 abnormality of the face 59 Excluded (0%)
10 brachydactyly 32 HP:0001156
11 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:

41
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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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