MCID: PLN006
MIFTS: 54

Poland Syndrome

Categories: Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 54 12 50 25 56 42 14 69
Poland Sequence 50 25 56
Poland Anomaly 50 25 56
Poland Syndactyly 50 25
Poland's Syndrome 50 25
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 50
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 25
Poland's Syndactyly 12
Poland's Anomaly 25

Characteristics:

Orphanet epidemiological data:

56
poland syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
all features are unilateral
occurs on right side in 75% of cases
three times more common in males
pedigrees compatible with autosomal dominant inheritance have been reported
poland syndrome can be associated with moebius syndrome
subclavian artery supply disruption in embryogenesis has been suggested as etiology


HPO:

32
poland syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Poland Syndrome

NIH Rare Diseases : 50 poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. the cause of poland syndrome is not known. this syndrome is nearly always sporadic. it tends to occur on the right side and is more common in boys than girls. treatment typically involves surgical correction of the chest wall deformities. last updated: 10/5/2016

MalaCards based summary : Poland Syndrome, also known as poland sequence, is related to webster deming syndrome and acro-pectoro-renal field defect, and has symptoms including scoliosis, microcephaly and short ribs. An important gene associated with Poland Syndrome is ALX3 (ALX Homeobox 3), and among its related pathways/superpathways is Acyl chain remodelling of PE. The drugs Beractant and Poractant alfa have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related phenotypes are cellular and craniofacial

Genetics Home Reference : 25 Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

OMIM : 54
Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. (173800)

Wikipedia : 72 Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by... more...

Related Diseases for Poland Syndrome

Diseases related to Poland Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 webster deming syndrome 11.1
2 acro-pectoro-renal field defect 10.9
3 breasts and/or nipples, aplasia or hypoplasia of, 2 10.8
4 ureter transitional cell carcinoma 10.8 ALX3 HOXA2
5 malignant neoplasm of acoustic nerve 10.8 SFTPA1 SFTPA2
6 folic acid deficiency anemia 10.7 SFTPA1 SFTPA2
7 intrahepatic cholangiocarcinoma 10.7 SFTPA1 SFTPA2
8 kagami-ogata syndrome 10.7 ALX3 HOXA2
9 coloboma of macula and skeletal anomalies 10.6 CHN1 TUBB3
10 infant gynecomastia 10.6 NF1 PAX6
11 peters-plus syndrome 10.6 REV3L TUBB3
12 aphthous stomatitis 10.5 PAX6 TUBB3
13 endometriosis of ovary 10.5 CHN1 TUBB3
14 benign paroxysmal positional nystagmus 10.5 HOXA2 TUBB3
15 necatoriasis 10.5 NF1 SFTPA1 SFTPA2
16 cardiovascular cancer 10.4 HOXA2 TUBB3
17 peripheral vertigo 10.4 CHN1 NF1 TUBB3
18 mental retardation, autosomal recessive 59 10.3 CHN1 TUBB3
19 communicating hydrocephalus 10.3 NF1 PAX6
20 ocular motility disease 10.3 NF1 PRTN3
21 muscle cancer 10.3 NOTCH1 PRTN3
22 total circumpapillary dystrophy of choroid 10.3 CHN1 PLA2G16
23 lung lymphoma 10.2 NF1 TUBB3
24 enterocele 10.0 CHN1 PLA2G16 TUBB3
25 pleomorphic carcinoma 10.0 CHN1 PLA2G16 TUBB3
26 monofixation syndrome 10.0 CHN1 TUBB3
27 paget's disease of bone 10.0 CHN1 PLA2G16 TUBB3
28 dextrocardia 10.0
29 breast reconstruction 9.7
30 oliver syndrome 9.6
31 adams-oliver syndrome 9.6
32 breast cancer 9.6
33 muscular atrophy 9.6
34 klippel-feil syndrome 9.6
35 craniofrontonasal dysplasia 9.6
36 hydranencephaly 9.6
37 carey-fineman-ziter syndrome 9.5
38 urinary bladder cancer 9.5
39 myopathy 9.5
40 congenital myopathy 9.5
41 neuroblastoma 9.4
42 hypogonadotropic hypogonadism 9.4
43 aberrant subclavian artery 9.4
44 transsexualism 9.4
45 germ cells tumors 9.4
46 moebius syndrome 9.4
47 pericardial effusion 9.4
48 morning glory syndrome 9.4
49 coloboma 9.4
50 pernicious anemia 9.4

Graphical network of the top 20 diseases related to Poland Syndrome:



Diseases related to Poland Syndrome

Symptoms & Phenotypes for Poland Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
hemivertebrae

Cardiovascular- Heart:
dextrocardia (in left-sided poland sequence)

Chest- Breasts:
unilateral hypoplasia or absence of nipple
unilateral hypoplasia or absence of areola
unilateral absence of breast

Muscle Soft Tissue:
hypoplasia of latissimus dorsi muscle
hypoplasia of serratus anterior muscle
hypoplasia of infraspinatus muscle
hypoplasia of supraspinatus muscle
hypoplasia of deltoid muscle

Chest- Ribs Sternum Clavicles And Scapulae:
hypoplastic ribs
fused ribs
sprengel anomaly

Chest- External Features:
unilateral hypoplasia or absence of pectoralis major muscle
absence of pectoralis minor muscle

Skeletal- Hands:
unilateral syndactyly
unilateral brachydactyly
unilateral oligodactyly


Clinical features from OMIM:

173800

Human phenotypes related to Poland Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
3 short ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000773
4 hemivertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0002937
5 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
6 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
7 low posterior hairline 56 32 occasional (7.5%) Occasional (29-5%) HP:0002162
8 dextrocardia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001651
9 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
10 split hand 56 32 frequent (33%) Frequent (79-30%) HP:0001171
11 small hand 56 32 frequent (33%) Frequent (79-30%) HP:0200055
12 retinal hamartoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0009594
13 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
14 abnormal dermatoglyphics 56 32 occasional (7.5%) Occasional (29-5%) HP:0007477
15 unilateral brachydactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006008
16 abnormality of the ulna 56 32 occasional (7.5%) Occasional (29-5%) HP:0002997
17 cone-shaped epiphysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010579
18 reduced bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004349
19 aplasia/hypoplasia of the nipples 56 32 hallmark (90%) Very frequent (99-80%) HP:0006709
20 acute leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002488
21 abnormality of the liver 56 32 occasional (7.5%) Occasional (29-5%) HP:0001392
22 neoplasm of the breast 56 32 occasional (7.5%) Occasional (29-5%) HP:0100013
23 aplasia/hypoplasia of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0009601
24 abnormality of the lower limb 56 32 occasional (7.5%) Occasional (29-5%) HP:0002814
25 absent hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0004050
26 asymmetry of the thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0001555
27 abnormality of the humerus 56 32 occasional (7.5%) Occasional (29-5%) HP:0003063
28 aplasia/hypoplasia of the breasts 56 32 hallmark (90%) Very frequent (99-80%) HP:0010311
29 aplasia/hypoplasia of the sternum 56 32 occasional (7.5%) Occasional (29-5%) HP:0006714
30 lack of subcutaneous fatty tissue 56 32 hallmark (90%) Very frequent (99-80%) HP:0007519
31 syndactyly 32 HP:0001159
32 sprengel anomaly 32 HP:0000912
33 rib fusion 32 HP:0000902
34 absence of pectoralis minor muscle 32 HP:0005255
35 unilateral oligodactyly 32 HP:0006230
36 hypoplasia of latissimus dorsi muscle 32 HP:0009026
37 hypoplasia of serratus anterior muscle 32 HP:0009011
38 hypoplasia of deltoid muscle 32 HP:0030241
39 abnormality of the ribs 56 Occasional (29-5%)
40 abnormality of the hand 56 Frequent (79-30%)
41 abnormality of the sternum 56 Occasional (29-5%)
42 abnormality of the breast 32 HP:0000769
43 finger symphalangism 32 frequent (33%) HP:0009700
44 unilateral absence of pectoralis major muscle 32 HP:0005256
45 unilateral hypoplasia of pectoralis major muscle 32 HP:0011959

MGI Mouse Phenotypes related to Poland Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 ALX3 CHN1 HOXA2 LRP4 NF1 NOTCH1
2 craniofacial MP:0005382 9.7 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6
3 embryo MP:0005380 9.56 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6
4 respiratory system MP:0005388 9.23 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6

Drugs & Therapeutics for Poland Syndrome

Drugs for Poland Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 401)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Beractant Approved Phase 4 108778-82-1
2 Poractant alfa Approved Phase 4 129069-19-8
3
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
4
Ethinyl Estradiol Approved Phase 4,Phase 3 57-63-6 5991
5
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
6
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
7
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
8
Eptifibatide Approved, Investigational Phase 4,Phase 3,Phase 2 188627-80-7 123610
9
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
10
Alverine Approved Phase 4 150-59-4 3678
11 Simethicone Approved Phase 4
12
Eplerenone Approved Phase 4 107724-20-9 150310 443872
13
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
14
Ticlopidine Approved Phase 4,Phase 3,Phase 2 55142-85-3 5472
15
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
16
Denileukin diftitox Approved, Investigational Phase 4 173146-27-5
17
Insulin Glargine Approved Phase 4 160337-95-1
18
Insulin Lispro Approved Phase 4 133107-64-9
19
Zinc Approved Phase 4 7440-66-6 32051 23994
20
Everolimus Approved Phase 4 159351-69-6 6442177
21
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
22
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
23
Interferon beta-1b Approved Phase 4,Phase 3 145155-23-3
24
Apixaban Approved Phase 4,Phase 3,Phase 2 503612-47-3 10182969
25
Somatostatin Approved Phase 4,Phase 3,Phase 2 38916-34-6, 51110-01-1 53481605
26
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
27
Propafenone Approved Phase 4 54063-53-5 4932
28
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
29
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
30
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
31 Pancreatic Polypeptide Investigational Phase 4 59763-91-6
32
Resveratrol Experimental, Investigational Phase 4 501-36-0 445154
33
Mebeverine Investigational Phase 4 3625-06-7 62887
34 Fondaparinux Investigational Phase 4 104993-28-4
35
Lactitol Investigational Phase 4 585-86-4 3871
36 Pulmonary Surfactants Phase 4
37 Respiratory System Agents Phase 4
38 Androgen Antagonists Phase 4
39 Androgens Phase 4
40 Contraceptive Agents Phase 4,Phase 3
41 Contraceptive Agents, Male Phase 4
42 Contraceptives, Oral Phase 4,Phase 3
43
Cyproterone Phase 4 2098-66-0 5284537
44 Hormone Antagonists Phase 4,Phase 3,Phase 2
45 Hormones Phase 4,Phase 3,Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
47 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
48 Liver Extracts Phase 4,Phase 3
49 Anticholesteremic Agents Phase 4,Phase 3
50 Antimetabolites Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 265)

id Name Status NCT ID Phase Drugs
1 Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
2 PCOS, Therapy and Markers of Cardiovascular Risk Unknown status NCT01798875 Phase 4 oral metformin;oral contraceptive
3 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
4 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
5 Endothelial Progenitor Cells-capture Stents in Acute Coronary Syndromes Completed NCT00494247 Phase 4
6 INFLACOR - Clinical and Genetic Predictors of Inflammation Related Complications After Heart Surgery Completed NCT01020409 Phase 4
7 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
8 Salusin-alpha - a New Factor in the Pathogenesis of Lipid Abnormalities in Hemodialysis Patients Completed NCT01448174 Phase 4 Atorvastatin
9 Clinical Effects of Eptifibatide Administration in High Risk Patients Presenting With Non-ST Segment Elevation Acute Coronary Syndrome (NSTE-ACS) Requiring Urgent Coronary Artery Bypass Graft Surgery in Short- and Long-Term Follow-up Completed NCT01863134 Phase 4 Eptifibatide;Placebo
10 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
11 Efficacy and Safety of Meteospasmyl® in Irritable Bowel Syndrome Completed NCT00542295 Phase 4 alverine citrate and simeticone;placebo
12 Fondaparinux Trial With Unfractionated Heparin (UFH) During Revascularization in Acute Coronary Syndromes (ACS) Completed NCT00790907 Phase 4 fondaparinux background and standard dose UFH;Fondaparinux background and low dose heparin;Open label fondaparinux
13 Reduction of Left Ventricular Hypertrophy After Eplerenone Therapy Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
14 Testing Responsiveness to Platelet Inhibition on Chronic Antiplatelet Treatment For Acute Coronary Syndromes Trial Completed NCT01959451 Phase 4 Prasugrel;Clopidogrel
15 Study of Reyataz in HIV-infected Patients With Lipodystrophy Syndrome Completed NCT00135356 Phase 4 Atazanavir (ATV) + ritonavir (RTV), continuation of backbone 2 nucleoside reverse transcriptase inhibitor (NRTIs);continuation of current HAART (boosted protease inhibitor [PI] combination + 2 NRTIs)
16 Glucomannan for the Treatment of Abdominal Pain-related Functional Gastrointestinal Disorders in Childhood Completed NCT01495806 Phase 4 Glucomannan;placebo
17 Study of ONTAK (Denileukin Diftitox) in Previously Treated Cutaneous T-Cell Lymphoma Patients Completed NCT00051012 Phase 4 ONTAK
18 Study of ONTAK (Denileukin Diftitox) in Cutaneous T-Cell Lymphoma (CTCL) Patients Completed NCT00050999 Phase 4 ONTAK
19 Hyperglycemia and Cardiovascular Outcomes With Type 2 Diabetes Completed NCT00191282 Phase 4 Insulin lispro;Human insulin isophane suspension (NPH);Insulin glargine;Human insulin isophane suspension;Human insulin 30/70
20 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4 Placebo & Aspirin;Clopidogrel & Aspirin, Prasugrel & Aspirin
21 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
22 Adult Bipolar Mania Completed NCT00931723 Phase 4 Quetiapine fumarate XR;Lithium;Placebo
23 Follow-up Study After 11 Years of Patients Who Were Included in the BENEFIT Trial (304747) With a First Demyelinating Event Suggestive of Multiple Sclerosis Completed NCT01795872 Phase 4
24 The Use of DPP-4 Inhibitors in Short Bowel Syndrome Recruiting NCT02653131 Phase 4 Dipeptidyl peptidase-4 inhibitor
25 Effects of Simvastatin and Micronized Trans-resveratrol Treatment on Polycystic Ovary Syndrome (PCOS) Patients Recruiting NCT02766803 Phase 4 Simvastatin and micronized trans-resveratrol
26 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
27 Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in a Novartis-sponsored Study. Recruiting NCT01794793 Phase 4 Pasireotide
28 A Rollover Study to Provide Continued Treatment With Eltrombopag Recruiting NCT01957176 Phase 4 ELT
29 Early Treatment of Atrial Fibrillation for Stroke Prevention Trial Active, not recruiting NCT01288352 Phase 4
30 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4 All licensed antiretroviral medications
31 Evaluation of Cardiovascular Outcomes in Patients With Type 2 Diabetes After Acute Coronary Syndrome During Treatment With AVE0010 (Lixisenatide) Completed NCT01147250 Phase 3 Lixisenatide (AVE0010);Placebo
32 Influenza Vaccination in Prevention From Acute Coronary Events in Coronary Artery Disease - FLUCAD Study Completed NCT00371098 Phase 2, Phase 3
33 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3 Ticagrelor;Clopidogrel
34 12-Week Efficacy and Safety Study of Ibodutant in Women With Irritable Bowel Syndrome With Diarrhea (IBS-D) Completed NCT02107196 Phase 3 Ibodutant 10 mg;Placebo
35 Study of Teduglutide Effectiveness in Parenteral Nutrition (PN)-Dependent Short Bowel Syndrome (SBS) Subjects Completed NCT00798967 Phase 3 teduglutide;placebo
36 A Survival Study in Patients With High Risk Myelodysplastic Syndromes Comparing Azacitidine Versus Conventional Care Completed NCT00071799 Phase 3 Azacitidine
37 A Comparison of Prasugrel and Clopidogrel in Acute Coronary Syndrome Subjects Completed NCT00699998 Phase 3 Clopidogrel;Prasugrel;Commercially-available Aspirin
38 A Phase 3 Clinical Outcomes Study to Compare the Incidence of Major Adverse Cardiovascular Events in Subjects Presenting With Acute Coronary Syndrome Treated With Losmapimod Compared to Placebo (LATITUDE-TIMI 60) Completed NCT02145468 Phase 3 Losmapimod 7.5 mg twice daily;Placebo twice daily;Standard therapy
39 Study of Rufinamide in Pediatric Subjects 1 to Less Than 4 Years of Age With Lennox-Gastaut Syndrome Inadequately Controlled With Other Anti-epileptic Drugs Completed NCT01405053 Phase 3 Rufinamide;Any other approved AED
40 Cardiovascular Outcomes Study of Alogliptin in Patients With Type 2 Diabetes and Acute Coronary Syndrome Completed NCT00968708 Phase 3 Alogliptin;Placebo
41 Open-Label Study of Teduglutide for Subjects With PN-Dependent Short Bowel Syndrome (SBS) Completed NCT00930644 Phase 3 teduglutide
42 A Study of RO4607381 in Stable Coronary Heart Disease Patients With Recent Acute Coronary Syndrome Completed NCT00658515 Phase 3 Dalcetrapib (RO4607381);Evidence-based medical care for Acute Coronary Syndrome;Placebo
43 Study Evaluating Combination of Levonorgestrel and Ethinyl Estradiol in Pre-Menstrual Dysphoric Disorder Completed NCT00195559 Phase 3 Levonorgestrel/Ethinyl Estradiol
44 Safety and Efficacy Study of Teduglutide in Subjects With Short Bowel Syndrome Completed NCT00081458 Phase 3 Placebo;Teduglutide 0.05 mg/kg/d;Teduglutide 0.1 mg/kg/d
45 An Efficacy and Safety Study for Rivaroxaban in Patients With Acute Coronary Syndrome Completed NCT00809965 Phase 3 Rivaroxaban 2.5 mg;Rivaroxaban 5 mg;Placebo;Standard of care
46 European Ambulance Acute Coronary Syndrome (ACS) Angiography Trial Completed NCT01087723 Phase 3 Bivalirudin;Heparin
47 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3 Darapladib 160 mg;Placebo
48 Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3 Macitentan 10 mg;Placebo
49 Safety and Efficacy Study of Teduglutide in Subjects With Short Bowel Syndrome Who Completed Protocol CL0600-004 (NCT00081458) Completed NCT00172185 Phase 3 teduglutide 0.05 mg/kg/d;teduglutide 0.10 mg/kg/d
50 Constipation Associated With Irritable Bowel Syndrome (IBS-C) Completed NCT00796354 Phase 3 MOVICOL;Sugar Pill

Search NIH Clinical Center for Poland Syndrome

Cochrane evidence based reviews: poland syndrome

Genetic Tests for Poland Syndrome

Anatomical Context for Poland Syndrome

MalaCards organs/tissues related to Poland Syndrome:

39
Heart, Endothelial, Liver, Testes, Bone, Ovary, Myeloid

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 135)
id Title Authors Year
1
Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )
2017
2
Poland syndrome: a case report. ( 28775114 )
2017
3
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
4
Liver exstrophy in a neonate with Poland syndrome. ( 28545812 )
2017
5
Unilateral hypertransparency on chest radiograph: the congenital Poland Syndrome. ( 28009035 )
2016
6
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. ( 27348639 )
2016
7
Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. ( 28824998 )
2016
8
Body Image Disorders and Surgical Timing in Patients Affected by Poland Syndrome: Data Analysis of 58 Case Studies. ( 27018681 )
2016
9
Assessment of copy number variations in 120 patients with Poland syndrome. ( 27884122 )
2016
10
Free gracilis flap for chest wall reconstruction in male patient with Poland syndrome after implant failure. ( 27833290 )
2016
11
Isolated left pectoralis major muscle hypoplasia in Poland syndrome. ( 26823450 )
2016
12
Bipolar Latissimus Dorsi Transfer through a Single Incision: First Key-Step in Poland Syndrome Chest Deformity. ( 27622115 )
2016
13
Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )
2015
14
Clinical analysis of 113 patients with Poland syndrome. ( 25633462 )
2015
15
Previous Information About Poland Syndrome Should Be Reviewed. ( 26522562 )
2015
16
Integrated algorithm for reconstruction of complex forms of Poland syndrome: 20-year outcomes. ( 26159469 )
2015
17
SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. ( 26625666 )
2015
18
eComment. Could this be a first depiction of Poland syndrome? ( 25791966 )
2015
19
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. ( 24885342 )
2014
20
Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. ( 25074240 )
2014
21
Articulated endoscopic linear cutter stapler facilitates minimal access harvest of the latissimus dorsi muscle flap for chest wall reconstruction in poland syndrome. ( 25347672 )
2014
22
Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. ( 24854181 )
2014
23
Customized Titanium Implant for Chest Wall Reconstruction in Complex Poland Syndrome. ( 25243105 )
2014
24
Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. ( 24567179 )
2014
25
Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. ( 25007065 )
2014
26
Clinical application of Nuss procedure for chest wall deformity in Poland syndrome. ( 26336460 )
2014
27
Poland syndrome. ( 24959021 )
2014
28
Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome. ( 25046677 )
2014
29
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. ( 24054492 )
2013
30
A hyperlucent hemithorax on a chest radiograph: Poland syndrome as an uncommon extrapulmonic source. ( 23841253 )
2013
31
Poland syndrome: from embryological basis to plastic surgery. ( 23420344 )
2013
32
A case of spontaneous chylous pericardial effusion in Poland syndrome. ( 23918317 )
2013
33
Poland syndrome a rare congenital anomaly. ( 24339551 )
2013
34
Optic Disc Dysplasia in Poland Syndrome. ( 23647425 )
2013
35
A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. ( 23011746 )
2013
36
Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. ( 23453291 )
2013
37
Laparoscopically harvested omental flap for breast reconstruction in Poland syndrome. ( 23972535 )
2013
38
Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. ( 24322640 )
2013
39
Chest wall repair in Poland syndrome: complex single-stage surgery including Vertical Expandable Prosthetic Titanium Rib stabilization--a case report. ( 22424369 )
2012
40
Pleural damage during capsulectomy and exchange of long-standing breast implants in Poland syndrome: a cautionary tale. ( 21750456 )
2012
41
Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. ( 22955538 )
2012
42
Poland syndrome. ( 23409420 )
2012
43
Multimodality imaging of Poland syndrome with dextrocardia and limb anomalies. ( 22785521 )
2012
44
Poland syndrome with Mullerian agenesis: a rare occurrence. ( 22226538 )
2012
45
Rare combination of dextrocardia with right-sided Poland syndrome. ( 23006716 )
2012
46
Poland syndrome associated with pernicious anemia and gastric dysplasia. ( 24385744 )
2012
47
Poland syndrome with extracorporeal intercostal liver herniation and thoracic myelomeningocele. ( 22244430 )
2012
48
Poland syndrome with a rare association. ( 23547414 )
2012
49
Poland syndrome and breast tumor: a case report and review of the literature. ( 22231415 )
2012
50
Breast and chest wall reconstruction with the transverse musculocutaneous gracilis flap in Poland syndrome. ( 23018691 )
2012

Variations for Poland Syndrome

Copy number variations for Poland Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 35927 1 69500000 84700000 Deletion Poland''s syndrome
2 104857 16 73300000 78200000 Duplication Poland''s syndrome
3 263628 X 49700000 54700000 Duplication Poland''s syndrome

Expression for Poland Syndrome

Search GEO for disease gene expression data for Poland Syndrome.

Pathways for Poland Syndrome

Pathways related to Poland Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 HRASLS2 HRASLS5 PLA2G16 RARRES3

GO Terms for Poland Syndrome

Cellular components related to Poland Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lamellar body GO:0042599 8.62 SFTPA1 SFTPA2

Biological processes related to Poland Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.5 HRASLS2 PLA2G16 RARRES3
2 negative regulation of ossification GO:0030279 9.4 LRP4 NOTCH1
3 positive regulation of neuroblast proliferation GO:0002052 9.37 NOTCH1 PAX6
4 negative regulation of neurogenesis GO:0050768 9.26 NOTCH1 PAX6
5 negative regulation of oligodendrocyte differentiation GO:0048715 9.16 NF1 NOTCH1
6 astrocyte differentiation GO:0048708 8.96 NOTCH1 PAX6
7 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.8 HRASLS2 PLA2G16 RARRES3

Molecular functions related to Poland Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.92 HRASLS2 HRASLS5 PLA2G16 RARRES3

Sources for Poland Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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