MCID: PRP101
MIFTS: 23

Peripheral Pulmonary Stenosis

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

Aliases & Classifications for Peripheral Pulmonary Stenosis

MalaCards integrated aliases for Peripheral Pulmonary Stenosis:

Name: Peripheral Pulmonary Stenosis 58 6
Peripheral Pulmonary Artery Stenosis 70
Branch Pulmonary Artery Stenosis 58
Pulmonary Branch Stenosis 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q25.6
Orphanet 58 ORPHA99084
UMLS 70 C0345030

Summaries for Peripheral Pulmonary Stenosis

MalaCards based summary : Peripheral Pulmonary Stenosis, also known as peripheral pulmonary artery stenosis, is related to alagille syndrome 1 and keutel syndrome. An important gene associated with Peripheral Pulmonary Stenosis is DLX3 (Distal-Less Homeobox 3). Affiliated tissues include endothelial, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Peripheral Pulmonary Stenosis

Graphical network of the top 20 diseases related to Peripheral Pulmonary Stenosis:



Diseases related to Peripheral Pulmonary Stenosis

Symptoms & Phenotypes for Peripheral Pulmonary Stenosis

GenomeRNAi Phenotypes related to Peripheral Pulmonary Stenosis according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.53 MGP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 DLX3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.53 MGP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.53 MGP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.53 DLX3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.53 MGP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.53 MGP
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 MGP
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.53 MGP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.53 DLX3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.53 DLX3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.53 MGP
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.53 MGP
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.53 MGP
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.53 MGP
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.53 MGP

Drugs & Therapeutics for Peripheral Pulmonary Stenosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Withdrawn NCT02365415 Phase 2 Sirolimus
2 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175

Search NIH Clinical Center for Peripheral Pulmonary Stenosis

Genetic Tests for Peripheral Pulmonary Stenosis

Anatomical Context for Peripheral Pulmonary Stenosis

MalaCards organs/tissues related to Peripheral Pulmonary Stenosis:

40
Endothelial

Publications for Peripheral Pulmonary Stenosis

Articles related to Peripheral Pulmonary Stenosis:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty. 61
33240484 2020
2
A 15-Year-Old With Tetralogy of Fallot With Pulmonic Atresia, Multiple Aorticopulmonary Collateral Arteries and Bilateral Peripheral Pulmonary Stenosis. 61
33251060 2020
3
Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. 61
31542298 2020
4
Development of a Ductal Aneurysm in a Patient with Williams Syndrome, and Subsequent Interventional Closure. 61
31535182 2020
5
Isolated peripheral pulmonary stenosis in Takayasu arteritis. 61
31746147 2020
6
Successful mitral valve repair for isolated mitral regurgitation in a child with Williams syndrome. 61
31536151 2019
7
Horseshoe lung associated with scimitar syndrome. 61
31420418 2019
8
Computational simulation of postoperative pulmonary flow distribution in Alagille patients with peripheral pulmonary artery stenosis. 61
29194961 2018
9
[Stenting of multiple peripheral pulmonary stenosis with the coronary technique in an adul patient with Eisenmenger-like syndrome]. 61
28652631 2017
10
Clinically Confirmed Congenital Rubella Syndrome: The Role of Echocardiography. 61
28579716 2017
11
Unmasking the culprit: MAPCA masquerading as RV failure in post surgical correction of TOF. 61
30279749 2017
12
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report. 61
27906097 2016
13
Systemic rapamycin to prevent in-stent stenosis in peripheral pulmonary arterial disease: early clinical experience. 61
26707181 2016
14
The association of congenital tracheobronchial stenosis and cardiovascular anomalies. 61
26968043 2016
15
Intravascular imaging-guided percutaneous transluminal pulmonary angioplasty for peripheral pulmonary stenosis and pulmonary Takayasu arteritis. 61
26776920 2016
16
Main pulmonary artery area limits exercise capacity in patients long-term after arterial switch operation. 61
26318354 2015
17
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center. 61
26576184 2015
18
A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations. 61
26429123 2015
19
A new patient with LACHT syndrome (Mardini-Nyhan association). 61
25487726 2015
20
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India. 61
26352091 2015
21
Peripheral pulmonary artery stenosis: an unusual case and discussion of genetic associations. 61
24965779 2014
22
Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. 61
23701710 2014
23
Interventional therapy of supravalvular pulmonary stenosis via a mechanical valve in the pulmonary position. 61
23601034 2014
24
Classical Supravalvar Aortic Stenosis and Peripheral Pulmonary Stenosis. 61
26236365 2014
25
Early and 1-year outcome and predictors of adverse outcome following monocusp pulmonary valve reconstruction for patients with tetralogy of Fallot: A prospective observational study. 61
24701078 2014
26
Palliative balloon angioplasty in a cat with right pulmonary arterial branch stenoses and concurrent absence of the left pulmonary artery. 61
23932425 2013
27
Outcomes after primary transcatheter therapy in infants and young children with severe bilateral peripheral pulmonary artery stenosis. 61
23941859 2013
28
[Keutel syndrome with tracheal stenosis as the major symptom: case report and literature review]. 61
24267135 2013
29
[Surgical repair of truncus arteriosus in children: early results and long-term outcomes]. 61
23157960 2012
30
Moyamoya vascular pattern in Alagille syndrome. 61
22759690 2012
31
Williams-Beuren's Syndrome: A Case Report. 61
22927862 2012
32
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay. 61
23072190 2012
33
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. 61
22611639 2012
34
Effects of stent implantation for peripheral pulmonary artery stenosis on pulmonary vascular hemodynamics and right ventricular function in a patient with repaired tetralogy of Fallot. 61
21416114 2011
35
Per-operative stent placement in the right pulmonary artery; a hybrid technique for the management of pulmonary artery branch stenosis at the time of pulmonary valve replacement in adult Fallot patients. 61
21915722 2011
36
[MRI for therapy control in patients with tetralogy of Fallot]. 61
21243462 2011
37
Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. 61
21119543 2011
38
Indications for reoperation late after correction of tetralogy of Fallot. 61
20456817 2010
39
Long-term results after correction of persistent truncus arteriosus in 83 patients. 61
20137966 2010
40
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 61
20437614 2010
41
Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. 61
20211336 2010
42
Ischemic prevention for stent implantation via brachial artery in children. 61
19360873 2009
43
Patent arterial duct. 61
19591690 2009
44
How we approach peripheral pulmonary stenosis in Williams-Beuren syndrome. 61
19349025 2009
45
Demonstration of peripheral pulmonary stenosis and supravalvular aortic stenosis by different cardiac imaging modalities in a patient with Williams syndrome--usefulness of noninvasive imaging studies. 61
17945365 2008
46
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. 61
17625998 2007
47
Right ventricular outflow tract reconstruction with the bovine jugular vein graft: 5 years' experience with 133 patients. 61
17643642 2007
48
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. 61
17537022 2007
49
Tetralogy of fallot and alterations in vascular endothelial growth factor-A signaling and notch signaling in mouse embryos solely expressing the VEGF120 isoform. 61
17332426 2007
50
[The best of congenital heart disease in 2006]. 61
17405574 2007

Variations for Peripheral Pulmonary Stenosis

ClinVar genetic disease variations for Peripheral Pulmonary Stenosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLX3 NM_005220.3(DLX3):c.574dup (p.Glu192fs) Duplication Likely pathogenic 373912 rs1057518764 GRCh37: 17:48069170-48069171
GRCh38: 17:49991806-49991807

Expression for Peripheral Pulmonary Stenosis

Search GEO for disease gene expression data for Peripheral Pulmonary Stenosis.

Pathways for Peripheral Pulmonary Stenosis

GO Terms for Peripheral Pulmonary Stenosis

Biological processes related to Peripheral Pulmonary Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.96 MGP DLX3
2 cell differentiation GO:0030154 8.62 MGP DLX3

Sources for Peripheral Pulmonary Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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