PAH
MCID: PLM116
MIFTS: 21

Pulmonary Artery Hypoplasia (PAH)

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

Aliases & Classifications for Pulmonary Artery Hypoplasia

MalaCards integrated aliases for Pulmonary Artery Hypoplasia:

Name: Pulmonary Artery Hypoplasia 58
Congenital Hypoplasia of Pulmonary Artery 70
Unilateral Pulmonary Artery Hypoplasia 58
Pah 58

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q25.7
Orphanet 58 ORPHA99083
UMLS 70 C0265910

Summaries for Pulmonary Artery Hypoplasia

MalaCards based summary : Pulmonary Artery Hypoplasia, also known as congenital hypoplasia of pulmonary artery, is related to phenylketonuria and pulmonary hypertension, primary, 1. An important gene associated with Pulmonary Artery Hypoplasia is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include lung, heart and kidney.

Related Diseases for Pulmonary Artery Hypoplasia

Diseases related to Pulmonary Artery Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 phenylketonuria 11.8
2 pulmonary hypertension, primary, 1 11.7
3 hyperphenylalaninemia, bh4-deficient, a 11.3
4 hyperphenylalaninemia 11.2
5 total anomalous pulmonary venous return 1 11.1
6 pagod syndrome 11.1
7 schizophrenia 11.1
8 parkinson disease, late-onset 11.1
9 tyrosinemia 11.1
10 pulmonary arterial hypertension associated with another disease 11.1
11 mild hyperphenylalaninemia 11.1
12 psychotic disorder 11.0
13 autism 11.0
14 galactosemia i 11.0
15 vitiligo-associated multiple autoimmune disease susceptibility 1 11.0
16 hermansky-pudlak syndrome 11.0
17 dystonia 11.0
18 pulmonary arterial hypertension associated with portal hypertension 11.0
19 pulmonary arterial hypertension associated with congenital heart disease 10.9
20 pulmonary arterial hypertension associated with connective tissue disease 10.9
21 classic phenylketonuria 10.9
22 tetrahydrobiopterin deficiency 10.9
23 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
24 hyperphenylalaninemia, mild, non-bh4-deficient 10.9
25 mitochondrial complex iv deficiency, nuclear type 20 10.9
26 maternal hyperphenylalaninemia 10.9
27 familial pulmonary arterial hypertension leucopenia and atrial septal defect 10.9
28 pulmonary arterial hypertension associated with hiv infection 10.9
29 pulmonary arterial hypertension associated with schistosomiasis 10.9
30 drug- or toxin-induced pulmonary arterial hypertension 10.9
31 pulmonary arterial hypertension associated with chronic hemolytic anemia 10.9
32 abdominal obesity-metabolic syndrome 1 10.9
33 acyl-coa dehydrogenase, medium-chain, deficiency of 10.8
34 alkaptonuria 10.8
35 argininemia 10.8
36 maple syrup urine disease 10.8
37 propionic acidemia 10.8
38 methylmalonic acidemia 10.8
39 disease of mental health 10.8
40 amino acid metabolic disorder 10.8
41 urea cycle disorder 10.8
42 scleroderma, familial progressive 10.3
43 connective tissue disease 10.3
44 chronic thromboembolic pulmonary hypertension 10.3
45 heart septal defect 10.3
46 lung disease 10.2
47 autosomal recessive disease 10.2
48 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.2
49 vascular disease 10.1
50 ventricular septal defect 10.1

Graphical network of the top 20 diseases related to Pulmonary Artery Hypoplasia:



Diseases related to Pulmonary Artery Hypoplasia

Symptoms & Phenotypes for Pulmonary Artery Hypoplasia

Drugs & Therapeutics for Pulmonary Artery Hypoplasia

Search Clinical Trials , NIH Clinical Center for Pulmonary Artery Hypoplasia

Genetic Tests for Pulmonary Artery Hypoplasia

Anatomical Context for Pulmonary Artery Hypoplasia

MalaCards organs/tissues related to Pulmonary Artery Hypoplasia:

40
Lung, Heart, Kidney, Breast, Endothelial

Publications for Pulmonary Artery Hypoplasia

Articles related to Pulmonary Artery Hypoplasia:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Dependent Lung Pulmonary Artery Hypoplasia as a Cause of Hypoxia during One-lung Ventilation. 61
33592100 2021
2
Congenital isolated unilateral hypoplasia of the left pulmonary artery: A rare incidental anomaly in an elderly female. 61
33402645 2021
3
Unilateral pulmonary venous atresia: A rare cause of recurrent hemoptysis. 61
32108604 2020
4
Left Lung and Pulmonary Artery Hypoplasia: A Rare Case of Hemoptysis. 61
32665919 2020
5
Isolated left pulmonary artery hypoplasia. 61
32774591 2020
6
Left interval thoracoscopic pneumonectomy for type II communicating bronchopulmonary foregut malformation in a 17-month-old girl. 61
33189002 2020
7
Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries. 61
30720842 2019
8
Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia. 61
31929932 2019
9
Blalock-Taussig Shunt Size: Should it be Based on Body Weight or Target Branch Pulmonary Artery Size? 61
30121861 2019
10
Esophageal Lung in Association with Pulmonary Vascular Anomalies. 61
30105403 2018
11
The histological findings in transposition of the great artery with severe persistent pulmonary hypertension of the newborn. 61
30279881 2018
12
Asymptomatic atresia of the anomalous pulmonary vein in a patient with scimitar syndrome presenting in childhood. 61
28847332 2018
13
Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis. 61
29054305 2018
14
Scimitar syndrome associated with aberrant right subclavian artery, diaphragmatic hernia, and urinary anomalies - case report and review of the literature. 61
30173274 2018
15
Secondary systemic artery to pulmonary artery and pulmonary vein fistulas following the video-assisted thoracic surgery for pneumothorax: a case report. 61
29292473 2018
16
Scimitar syndrome: Anaesthetic management for pulmonary resection of the unaffected lung. 61
28554711 2017
17
Isolated Peripheral Pulmonary Artery Hypoplasia in Adulthood Presented with Occasional Hemoptysis. 61
28933916 2017
18
Pulmonary artery hypoplasia associated with posterior mediastinal hematoma accompanied by a ruptured pseudoaneurysm of the esophageal branch of the left gastric artery. 61
28466245 2017
19
An elderly patient and an adult patients with isolated unilateral pulmonary arterial hypoplasia: Two cases reports and literature review of the literature. 61
28752058 2017
20
Spectrum of pulmonary valve morphology and its relationship to pulmonary trunk in tetralogy of Fallot. 61
28515589 2017
21
Asymptomatic Unilateral Hyperlucent Lung in a Prospective Kidney Donor. 61
27608883 2015
22
Persistent primitive hepatic venous plexus with Scimitar syndrome: description of a case and review of the literature. 61
25249237 2015
23
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. 61
25724586 2015
24
Neonatal pulmonary artery reconstruction during shunting to treat and prevent juxtaductal coarctation. 61
25534528 2015
25
Impact of bilateral superior venae cavae on outcome of staged Fontan procedure. 61
25443024 2014
26
Outcomes of the rehabilitative procedure for patients with pulmonary atresia, ventricular septal defect and hypoplastic pulmonary arteries beyond the infant period. 61
24420372 2014
27
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome. 61
24643152 2014
28
Liver transplantation in children with congenital cardiac defects: a case report and a short literature review. 61
24034044 2013
29
Use of oral fluconazole during pregnancy and the risk of birth defects. 61
23984730 2013
30
Rhizomelic chondrodysplasia punctata and cardiac pathology. 61
23572185 2013
31
Preliminary experience with cardiovascular magnetic resonance in evaluation of fetal cardiovascular anomalies. 61
23692653 2013
32
Fontan completion after external stenting of the left bronchus and intrapulmonary artery septation for left pulmonary artery hypoplasia. 61
23407692 2013
33
Long-term results of pulmonary artery rehabilitation in patients with pulmonary atresia, ventricular septal defect, pulmonary artery hypoplasia, and major aortopulmonary collaterals. 61
21719033 2011
34
Large tortuous patent ductus arteriosus with proximal left pulmonary artery hypoplasia. 61
23804012 2011
35
Left pulmonary artery hypoplasia presenting with unilateral hyperluscent lung. 61
21751632 2011
36
Impact of shunt type on growth of pulmonary arteries after norwood stage I procedure: current best available evidence. 61
23804938 2011
37
Impact of evolving strategy on clinical outcomes and central pulmonary artery growth in patients with bilateral superior vena cava undergoing a bilateral bidirectional cavopulmonary shunt. 61
20621311 2010
38
Sternotomy approach for modified Blalock-Taussig shunt: is it a safe option? 61
20719789 2010
39
Early and midterm results of an alternative procedure to homografts in primary repair of truncus arteriosus communis. 61
20576045 2010
40
Differential branch pulmonary artery growth after the Norwood procedure with right ventricle-pulmonary artery conduit versus modified Blalock-Taussig shunt in hypoplastic left heart syndrome. 61
19464446 2009
41
Hepatobiliary scan in Alagille syndrome; arteriohepatic dysplasia. 61
19675871 2009
42
[Hyperlucent lung syndrom caused by pulmonary artery hypoplasia in patient with diagnosed asthma--case report]. 61
18634390 2008
43
Stent implantation and balloon angioplasty for treatment of branch pulmonary artery stenosis in children. 61
18491172 2008
44
Right ventricle outflow tract stenting as a method of palliative treatment of severe tetralogy of Fallot. 61
18698548 2008
45
Staged hybrid left pulmonary artery rehabilitation in post-fontan left pulmonary artery hypoplasia. 61
18036955 2007
46
[Effects of right ventricular outflow tract reconstruction with modified autologous pericardial monocuspid valve in patients with tetralogy of Fallot: a clinical research]. 61
18167291 2007
47
General anesthesia for dental treatment in a Williams syndrome patient with severe aortic and pulmonary valve stenosis: suspected episode of postoperatively malignant hyperthermia. 61
17683962 2007
48
Simultaneous enlargement of the pulmonary annulus and the pulmonary cusp with autologous pericardium in right ventricular outflow tract reconstruction. 61
17059834 2006
49
Isolated unilateral pulmonary artery agenesis: evaluation of natural and long term evolution after corrective surgery. 61
17128310 2006
50
Fetal pulmonary artery diameter measurements as a predictor of morbidity in antenatally diagnosed congenital diaphragmatic hernia: a prospective study. 61
16777047 2006

Variations for Pulmonary Artery Hypoplasia

Expression for Pulmonary Artery Hypoplasia

Search GEO for disease gene expression data for Pulmonary Artery Hypoplasia.

Pathways for Pulmonary Artery Hypoplasia

GO Terms for Pulmonary Artery Hypoplasia

Sources for Pulmonary Artery Hypoplasia

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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