MCID: PRP101
MIFTS: 24

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 heart and 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 (showing 16, show less)
# 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:

(showing 2, show less)
# 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
Heart, Endothelial

Publications for Peripheral Pulmonary Stenosis

Articles related to Peripheral Pulmonary Stenosis:

(showing 161, show less)
# 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
51
Comparison of efficacy of medium-sized cutting balloons versus standard balloons for dilation of peripheral pulmonary stenosis. 61
16563916 2006
52
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. 61
16328322 2006
53
Repair of persistent truncus arteriosus with interrupted aortic arch. 61
16194613 2005
54
[Williams syndrome]. 61
16001780 2005
55
[Surgical treatment of Williams syndrome combined with cardiovascular disease]. 61
16008933 2005
56
Left pulmonary arterioplasty--extended end-to-end anastomosis. 61
15854991 2005
57
Bartsocas-Papas syndrome in a Pakistani family from Kuwait. 61
15297688 2004
58
49, XXXXY syndrome. 61
15508879 2004
59
Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. 61
14967851 2004
60
[Magnetic resonance imaging and lung perfusion scintigraphy in tetralogy of Fallot following surgery]. 61
14757020 2004
61
Patency of cavopulmonary connection studied by single phase electron beam computed tomography. 61
14609197 2003
62
Balloon sizing of pulmonary branch stenosis: a useful method to guide stent implantation. 61
12890871 2003
63
Williams syndrome associated with complete atrioventricular septal defect. 61
12695480 2003
64
Abdominal wall defects and congenital heart disease. 61
12704739 2003
65
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. 61
12612818 2003
66
[Interventional catheterization in congenital heart disease in the adult]. 61
12500622 2002
67
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. 61
12427653 2002
68
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome. 61
12239725 2002
69
Alagille syndrome. 61
12420916 2002
70
Interventional catheterization management of perioperative peripheral pulmonary stenosis: balloon angioplasty or endovascular stenting. 61
12112928 2002
71
Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine. 61
12030351 2002
72
Lung perfusion scintigraphy in the diagnosis of peripheral pulmonary stenosis in patients after repair of Fallot tetralogy. 61
14600940 2002
73
Closure of the ductus arteriosus and development of pulmonary branch stenosis in babies of less than 32 weeks gestation. 61
11668163 2001
74
[The bidirectional Glenn operation in 100 cases with complex congenital heat diseases: factors influencing surgical results]. 61
11693093 2001
75
Hemodynamic response to continuous infusion of dobutamine in Alagille's syndrome. 61
11571444 2001
76
[Reconstruction of the pulmonary outflow tract without external conduit]. 61
11517529 2001
77
Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. 61
11331257 2001
78
Pulmonary Stenosis. 61
11096552 2000
79
Pulmonary artery trauma due to balloon dilation: recognition, avoidance and management. 61
11079677 2000
80
Alagille syndrome. The widening spectrum of arteriohepatic dysplasia. 61
11232356 2000
81
Case 2. Congenital multiple peripheral pulmonary artery stenosis (Pulmonary branch stenosis or supravalvular pulmonary stenosis). 61
10954480 2000
82
Abdominal coarctation and Alagille syndrome. 61
10878178 2000
83
Congenital Heart Surgery Nomenclature and Database Project: right ventricular outflow tract obstruction-intact ventricular septum. 61
10798420 2000
84
Hemodynamic changes in patients with Alagille's syndrome during orthotopic liver transplantation. 61
10553824 1999
85
[Current role of therapeutic heart catheterization in pediatric cardiology] 61
14685496 1999
86
Peripheral pulmonary stenosis murmurs. 61
10693479 1999
87
Images in cardiology: Cutting balloon for treatment of severe peripheral pulmonary stenosis in a child. 61
10377323 1999
88
[Interventions in congenital heart disease and their sequelae in adults]. 61
10444708 1999
89
Williams Syndrome 61
20301427 1999
90
Clinical results of arterial switch operation for double-outlet right ventricle with subpulmonary VSD. 61
10333024 1999
91
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. 61
9916809 1999
92
FISH analysis in both classical and atypical cases of Williams-Beuren syndrome. 61
9926515 1998
93
A female patient with partial duplication 22 (q13-->qter). 61
9823497 1998
94
[A total correction for tetralogy of Fallot without the use of homologous blood]. 61
9720376 1998
95
Keutel syndrome: further characterization and review. 61
9674914 1998
96
Natural history of innocent heart murmurs in newborn babies: controlled echocardiographic study. 61
9713025 1998
97
Acyanotic cardiac lesions with normal pulmonary blood flow. 61
9601345 1998
98
[Experience with Palmaz stent in pulmonary branch stenosis]. 61
9132878 1997
99
Alagille syndrome. 61
9039994 1997
100
Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome. 61
9071842 1997
101
[The role of the stent in non-coronary cardiopathies]. 61
9221459 1997
102
[A case of congenital tricuspid regurgitation associated with atrial septal defect and peripheral pulmonary stenosis]. 61
8990887 1996
103
[A case report of the radical correction of a truncus arteriosus and peripheral pulmonary stenosis in association with Holt-Oram syndrome]. 61
7897882 1995
104
Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. 61
7810560 1994
105
[Blalock-Hanlon procedure for mitral atresia with normal aortic valve]. 61
8057543 1994
106
[Surgical treatment of supravalvular aortic stenosis]. 61
8057023 1994
107
Interventional cardiology: state of the art. 61
8208695 1994
108
[Pulmonary branch stenosis]. 61
8152093 1994
109
Physiological pulmonary branch stenosis in newborns: 2D-echocardiographic and Doppler characteristics and follow up. 61
8354313 1993
110
Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia. 61
8456853 1993
111
The Keutel syndrome. Report of a case and review of the literature. 61
8414764 1993
112
Interventional catheterization in congenital heart disease. 61
10148089 1993
113
[Cervical aortic arch associated with cardiopathy]. 61
1470744 1992
114
[Magnetic resonance imaging: evaluation of the Blalock-Taussig shunts and anatomy of the pulmonary artery]. 61
1343633 1992
115
Closure of the ductus arteriosus: determinant factor in the appearance of transient peripheral pulmonary stenosis of the neonate. 61
1960617 1991
116
[Systemic-pulmonary shunts in congenital heart diseases with decreased pulmonary blood flow: critical analysis of the surgical techniques and immediate results]. 61
1888301 1991
117
[The Alagille syndrome in an adult]. 61
2390942 1990
118
[Staged operation for supravalvular aortic stenosis syndrome associated with severe multiple peripheral pulmonary stenoses: a case report and surgical methods]. 61
2304299 1990
119
Keutel syndrome: a report of four cases. 61
2515061 1989
120
[A case of supravalvular aortic stenosis with spontaneous remission of peripheral pulmonary stenosis]. 61
2614124 1989
121
Hemodynamic confirmation of peripheral pulmonary stenosis caused by aortic dissection. 61
2729120 1989
122
[A rare combination: persistent ductus arteriosus and pulmonary stenoses. Is there a correlation with rubella embryopathy?]. 61
2704174 1989
123
[Peripheral pulmonary stenosis: initial manifestation of a malignant teratoma]. 61
3195181 1988
124
[Lung sequestration as a cause of acute cardiac decompensation in a 3-week-old newborn infant]. 61
3211171 1988
125
Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. 61
3681572 1987
126
Successful balloon angioplasty of peripheral pulmonary stenosis in Williams syndrome. 61
2957904 1987
127
Percutaneous angioplasty for peripheral pulmonary stenosis in an adult. 61
2949577 1987
128
Keutel syndrome: clinical report and literature review. 61
3717211 1986
129
[Beuren-Williams syndrome: study of 20 cases]. 61
3740663 1986
130
Severe subaortic stenosis associated with congenital rubella syndrome: palliation by percutaneous transcatheter device occlusion of a patent ductus arteriosus. 61
3822869 1986
131
Ductus arteriosus aneurysm in infancy. 61
4074011 1985
132
The use of balloon angioplasty in the pediatric patient. 61
6239136 1984
133
Use of balloon angioplasty to treat peripheral pulmonary stenosis. 61
6238519 1984
134
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. 61
6468443 1984
135
Hypoplastic pulmonary arteries and aorta with obstructive uropathy in 2 siblings. 61
6711910 1984
136
[Type A cervical aortic arch. Report of a case associated with tetralogy of Fallot and pulmonary branch stenosis]. 61
6635292 1983
137
Two-dimensional echocardiographic identification of pulmonary artery branch stenosis. 61
7124640 1982
138
Unusual combination of congenital heart lesions in a child with Noonan's syndrome. 61
7155934 1982
139
[The familial genesis of peripheral pulmonary stenosis (author's transl)]. 61
7255955 1981
140
Supravalvular aortic and peripheral pulmonary arterial stenoses. A report of eight cases in two generations. 61
7399883 1980
141
The radiological diagnosis of peripheral pulmonary stenosis. 61
7387097 1980
142
[Radiological diagnosis of peripheral pulmonary stenosis (author's transl)]. 61
6448205 1980
143
[A operative case for atrial septal defect associated with peripheral pulmonary stenosis and pulmonary hypertension (author's transl)]. 61
7365297 1980
144
[Peripheral pulmonary stenosis due to tumour compression (author's transl)]. 61
442681 1979
145
[Familial occurrence of Elfin's face (Williams-Beurens Syndrome =wbs) and supravalvular aortic stenosis (= svas) (author's transl)]. 61
572446 1979
146
[Peripheral pulmonary stenosis, mental retardation and unusual facies. Apropos of a familial case]. 61
928031 1977
147
Echocardiographic diagnosis of supravalvular aortic stenosis. 61
877629 1977
148
Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies. 61
831382 1977
149
Differential diagnosis of pulmonic stenosis by means of intracardiac phonocardiography. 61
1011362 1976
150
Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. 61
951139 1976
151
A new approach to repair of pulmonary branch stenosis following ascending aorta-right pulmonary artery anastomosis. 61
1259494 1976
152
Supravalvar aortic stenosis syndrome with stenosis of all aortic arch branches. 61
1179335 1975
153
[A new autosomal-recessive hereditary syndrome. Multiple peripheral pulmonary stenosis, brachytelephalangia, inner-ear deafness, ossification or calcification of cartilages]. 61
5099199 1971
154
[Peripheral pulmonary stenosis after systemic-pulmonary anastomosis]. 61
5101718 1971
155
The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation, and characteristic facies. 61
5468292 1970
156
[Congenital peripheral pulmonary stenosis. Presentation of 16 cases and review of the literature]. 61
6021054 1967
157
[Peripheral pulmonary stenosis]. 61
5846881 1965
158
["A NEW SYNDROME: SUPRAVALVULAR AORTIC STENOSIS, MULTIPLE PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION, SIMILAR FACIAL FEATURES AND IDENTICAL DENTAL ABNORMALITIES"]. 61
14203488 1964
159
THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE. 61
14136289 1964
160
[Peripheral pulmonary stenosis]. 61
13763093 1961
161
[Peripheral pulmonary stenosis]. 61
13709056 1961

Variations for Peripheral Pulmonary Stenosis

ClinVar genetic disease variations for Peripheral Pulmonary Stenosis:

6 (showing 1, show less)
# 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:

(showing 2, show less)
# 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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