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MCID: PCT003
MIFTS: 49

Pectus Excavatum

Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pectus Excavatum

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MalaCards integrated aliases for Pectus Excavatum:

Name: Pectus Excavatum 56 29 6 32
Congenital Pectus Excavatum 71
Funnel Chest 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
pectus excavatum:
Inheritance autosomal dominant inheritance


Classifications:

ICD10: 32


External Ids:

OMIM 56 169300
ICD10 32 Q67.6
MedGen 41 C0016842
SNOMED-CT via HPO 68 263681008 391987005
UMLS 71 C0016842
Sources

Summaries for Pectus Excavatum

About this section
MalaCards based summary : Pectus Excavatum, also known as congenital pectus excavatum, is related to marden-walker syndrome and atrial heart septal defect. An important gene associated with Pectus Excavatum is DMD (Dystrophin), and among its related pathways/superpathways are ErbB signaling pathway and Tyrosine Kinases / Adaptors. The drugs Desflurane and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, breast and lung, and related phenotypes are pectus excavatum and growth/size/body region

Wikipedia : 74 Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib... more...

More information from OMIM: 169300
Sources

Related Diseases for Pectus Excavatum

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Diseases related to Pectus Excavatum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 259)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 32.0 PIEZO2 FBN1
2 atrial heart septal defect 30.3 PTPN11 FBN1 DMD
3 brachydactyly 29.8 FGFR3 FBN1 DDR2 CHST11
4 scoliosis 29.4 TMCO1 PTPN11 PIEZO2 FGFR3 FBN1 DMD
5 ptosis 29.1 TCF20 PTPN11 PIEZO2 DMD
6 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.8
7 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.6
8 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.5
9 osteofibrous dysplasia 12.0
10 loeys-dietz syndrome 11.8
11 pectus carinatum 11.8
12 marfan syndrome 11.8
13 noonan syndrome 1 11.7
14 zori stalker williams syndrome 11.5
15 arterial tortuosity syndrome 11.5
16 spondylometaepiphyseal dysplasia, short limb-hand type 11.5
17 congenital heart defects and skeletal malformations syndrome 11.5
18 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.5
19 noonan syndrome with multiple lentigines 11.5
20 acropectorovertebral dysplasia 11.3
21 long-thumb brachydactyly syndrome 11.3
22 metatropic dysplasia 11.3
23 cowden syndrome 1 11.3
24 shprintzen-goldberg craniosynostosis syndrome 11.3
25 acrocraniofacial dysostosis 11.3
26 camptodactyly syndrome, guadalajara, type ii 11.3
27 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.3
28 cranioectodermal dysplasia 1 11.3
29 mcdonough syndrome 11.3
30 orofaciodigital syndrome iii 11.3
31 insulin-like growth factor i 11.3
32 branchial arch syndrome, x-linked 11.3
33 craniofrontonasal syndrome 11.3
34 mental retardation, x-linked, syndromic, turner type 11.3
35 emery-dreifuss muscular dystrophy 1, x-linked 11.3
36 al-gazali-bakalinova syndrome 11.3
37 camptodactyly, tall stature, and hearing loss syndrome 11.3
38 legius syndrome 11.3
39 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
40 cranioectodermal dysplasia 2 11.3
41 choanal atresia and lymphedema 11.3
42 catel-manzke syndrome 11.3
43 ruijs-aalfs syndrome 11.3
44 hennekam syndrome 11.3
45 chromosome 17q11.2 deletion syndrome 11.3
46 ring chromosome 12 11.3
47 trisomy 3 mosaicism 11.3
48 pneumothorax 11.1
49 pain agnosia 10.9
50 orthostatic intolerance 10.8

Graphical network of the top 20 diseases related to Pectus Excavatum:



Diseases related to Pectus Excavatum
Sources

Symptoms & Phenotypes for Pectus Excavatum

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Human phenotypes related to Pectus Excavatum:

31
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 HP:0000767

Symptoms via clinical synopsis from OMIM:

56
Thorax:
pectus excavatum

Clinical features from OMIM:

169300

MGI Mouse Phenotypes related to Pectus Excavatum:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
2 mortality/aging MP:0010768 10.23 ABL1 CHST11 DDR2 DMD DNAJC21 FBN1
3 craniofacial MP:0005382 10.2 ABL1 CHST11 DDR2 FBN1 FGFR3 PTPN11
4 homeostasis/metabolism MP:0005376 10.19 ABL1 DDR2 DMD FBN1 FGFR3 PTPN11
5 cardiovascular system MP:0005385 10.16 ABL1 CHST11 DDR2 DMD FBN1 PTPN11
6 nervous system MP:0003631 10.14 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
7 limbs/digits/tail MP:0005371 10.08 CHST11 DDR2 DMD DNAJC21 FBN1 FGFR3
8 endocrine/exocrine gland MP:0005379 10.07 ABL1 CHST11 DDR2 DMD FBN1 PTPN11
9 adipose tissue MP:0005375 10.04 DDR2 DMD FBN1 PTPN11 TCF20 TP53
10 digestive/alimentary MP:0005381 10.01 ABL1 CHST11 DMD FGFR3 PTPN11 TP53
11 muscle MP:0005369 9.98 ABL1 CHST11 DDR2 DMD FBN1 PTPN11
12 no phenotypic analysis MP:0003012 9.91 DDR2 DMD FBN1 FGFR3 PIEZO2 PTPN11
13 reproductive system MP:0005389 9.86 DDR2 DMD FBN1 FGFR3 PTPN11 PTPN14
14 renal/urinary system MP:0005367 9.8 CHST11 DMD FBN1 FGFR3 PTPN14 TP53
15 respiratory system MP:0005388 9.7 ABL1 CHST11 DMD FBN1 FGFR3 PTPN11
16 skeleton MP:0005390 9.7 ABL1 CHST11 DDR2 DMD DNAJC21 FBN1
17 vision/eye MP:0005391 9.23 ABL1 CHST11 DDR2 DMD FGFR3 PTPN11
Sources

Drugs & Therapeutics for Pectus Excavatum

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Drugs for Pectus Excavatum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved Phase 4 57041-67-5 42113
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
6
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
7
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
8
Morphine Approved, Investigational Phase 4 57-27-2 5288826
9 Platelet Aggregation Inhibitors Phase 4
10 Anesthetics, Inhalation Phase 4
11 Anesthetics, General Phase 4
12 Anesthetics, Intravenous Phase 4
13 Anesthetics Phase 4
14 Analgesics Phase 4
15 Tea Phase 4
16 Anesthetics, Local Phase 4
17 Analgesics, Opioid Phase 4
18 Narcotics Phase 4
19
Midazolam Approved, Illicit 59467-70-8 4192
20
Clonidine Approved 4205-90-7 2803
21
Sevoflurane Approved, Vet_approved 28523-86-6 5206
22
Remifentanil Approved 132875-61-7 60815
23
Dexmedetomidine Approved, Vet_approved 113775-47-6 5311068 68602
24
Ephedrine Approved 299-42-3 9294
25
Pseudoephedrine Approved 90-82-4 7028
26
Atropine Approved, Vet_approved 51-55-8, 5908-99-6 174174
27 Insulin, Globin Zinc
28 insulin
29 Adrenergic alpha-Agonists
30 Adrenergic Agents
31 Vasoconstrictor Agents
32 Analgesics, Non-Narcotic
33 Hypnotics and Sedatives
34 Adrenergic Agonists
35 Cholinergic Antagonists
36 Neurotransmitter Agents
37 Antiemetics

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of Desflurane and Sevoflurane That Affect Pulmonary Mechanics During Minimally Invasive Repair of Pectus Excavatum Unknown status NCT01486953 Phase 4 Desflurane;Sevoflurane
2 Comparison of the Effects of Opioid-Based Intravenous Patient Controlled Analgesia and Continuous Ropivacaine Infusion Through Wound Catheters After Repair of Pectus Excavatum Completed NCT01908491 Phase 4
3 Pain Control in the Nuss Procedure: A Prospective, Randomized Trial of Cryoanalgesia vs. Thoracic Epidural Completed NCT02721017 Phase 4 Thoracic epidural (ropivicaine, fentanyl)
4 A Novel Ultrasound-Guided Extrathoracic Sub-Paraspinal Block Utilizing Multi- Perforated Soaker Catheters for Control of Perioperative Pain: A Prospective Randomized Pilot Project in Nuss Patients Completed NCT02169297 Phase 4
5 A Comparison Trial Between Patient Controlled Intravenous Analgesia (PCA) and Epidural Analgesia for Pectus Excavatum Repair Terminated NCT02056301 Phase 4 Hydromorphone;Morphine
6 Phase II Magnetic Alteration of Pectus Excavatum Completed NCT00466206 Phase 1, Phase 2
7 Autonomic Dysfunction in Patients With Pectus Excavatum. Unknown status NCT03346876
8 " A Multicenter Study Comparing the Clinical Outcomes of the Nuss and Ravitch Procedures for Repair of Pediatric Pectus Excavatum" Unknown status NCT00236132
9 Prediction of Acute Postoperative Pain and Analgesic Consumption by Preoperative Responses to Experimental Pain in Patients Undergoing Chest Wall Surgery Unknown status NCT02230865
10 Evaluation of a New Model of Metallic Bar and Stabilizer for Use in the Minimally Invasive Repair of Pectus Excavatum Unknown status NCT03087734
11 Short and Long-term Effects of Surgical Repair of Pectus Excavatum and Pectus Carinatum - A Questionnaire Study of Persistent Post-surgical Pain, Health-related Quality of Life, Patient Satisfaction, and Aesthetic Outcome Unknown status NCT01329120
12 Efficacy Evaluation of the Non-invasive Negative Pressure Treatment for Pectus Excavatum Completed NCT01816373
13 Clustering Among the Clinical Profiles of Patients With Pectus Excavatum Completed NCT03086499
14 An Open Non Comparative Multicenter Prospective Study to Evaluate Efficacy and Safety of Macrolane VRF20 in Treatment of Pectus Excavatum Completed NCT01750112
15 Hemodynamic Repercussions of the Correction (Surgical and Non Surgical) of Pectus Excavatum-type Thoracic Deformities Completed NCT02174796
16 Optical Surface Imaging Versus Conventional Photography as a Tool to Document the Surface Geometry of Pectus Excavatum Completed NCT04185870
17 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
18 Is Lung Ultrasound the Technique of Choice for the Diagnosis of Pneumothorax Following the Nuss Procedure for Pectus Excavatum? Completed NCT03073616
19 Phase 3 Multicenter Study of Magnetic Mini-Mover for Pectus Excavatum Completed NCT01327274
20 Prospective Randomized Trial: Pain Management Strategy After Pectus Excavatum Repair Completed NCT00413582 Epidural Analgesia;Patient-Controlled IV Analgesia
21 A Prospective, Randomized, Controlled Trial of Post Operative Pain Control Using Ropivacaine and the ON-Q System in the Adult Pectus Excavatum Patient After Minimally Invasive Repair Completed NCT01816477 Epidural (ropivicaine 0.25%)
22 Prediction and Characterization of Acute and Chronic Postoperative Pain - a Longitudinal Observational Study of the Relationship Between Experimental Pain Modulation and Clinical Postoperative Pain in Patients Undergoing Minimally Invasive Repair of Pectus Excavatum Completed NCT01308385
23 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program: Short and Long-term Evaluation of Pain, Nausea, Sleep, and Rehabilitation Via Tele-monitoring Completed NCT03100669
24 Discovering Laryngomalacia Completed NCT01165489
25 Society for Pediatric Anesthesia Improvement Network (SPAIN) Chest Wall Deformity Project (Pectus Repair) Completed NCT02098681
26 Functional Capacity of Exercise and Lung Function in Patients Submitted to Early Rehabilitation Program After Nuss Procedure: a Randomized Controlled Trial Completed NCT02441452
27 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
28 An Observational Study of Chest Wall Motion Analysis in Disease Completed NCT02958683
29 Determining the Effect of Probiotics on Microbiome and Volatile Organic Compounds in Patients After Surgical Repair of Congenital Diaphragmatic Hernia Completed NCT03787160
30 Cardiorespiratory Assessment and Quality of Life After Surgical Correction of Congenital Wall Malformations Recruiting NCT03770390
31 Quantifying the Effect of the Crane Technique Through Three-dimensional Imaging Recruiting NCT04418583
32 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities. Pectus Excavatum Pectus-Carinatum. Single-center Study Recruiting NCT02528656
33 Comparison of Physical and Psychosocial Characteristics of Pectus Excavatum and Carinatum Patients With Healthy Controls Recruiting NCT04172142
34 Evaluation of Mental Health, Self-esteem, Body Image and Quality of Life in Patients With Pectus Excavatum or Pectus Carinatum: Relationship With Severity and Type of the Deformity, and Patients' Age Recruiting NCT04362878
35 Comparison of Postoperative Recovery After Preoperative Carbohydrate Loading With Standard Fasting in Pediatric Patients Undergoing Nuss Operation Recruiting NCT04068324
36 The Use of Video-assisted Intercostal Nerve Cryoablation, Erector Spinae Block, and Thoracic Epidural for Postoperative Analgesia After Minimally Invasive Repair of Pectus Excavatum Recruiting NCT04211935
37 Evaluating Outcomes for Pectus Excavatum: Pain, Exercise, and Psychological Well-being Recruiting NCT02337621
38 Effects of Exercise Therapy in Addition to Vacuum Bell in Patients With Pectus Carinatum Recruiting NCT04167865
39 Three-dimensional Optical Surface Imaging as a Diagnostic Tool for Severity Quantification and Clinical Decision Making in Pectus Excavatum Recruiting NCT03926078
40 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186
41 Effects of Exercise Therapy in Addition to Compression Orthotics in Patients With Pectus Carinatum Recruiting NCT04167800
42 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
43 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
44 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265
45 Prospective Randomized Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Active, not recruiting NCT01863498
46 Preemptive Genotyping of Children and Adolescents at Risk for Surgery and Subsequent Pain Management Active, not recruiting NCT01813695
47 Genetic, Epigenetic, Psychosocial, and Biological Determinants of Post-surgical Pain After Pectus or Spine Surgery Enrolling by invitation NCT04031716
48 Comparing Analgesic Requirements in Patients Receiving Nuss Operation Using Remifentanil or Dexmedetomidine as Anesthetic Adjuvants Enrolling by invitation NCT04073758 Dexmedetomidine
49 Postoperative Analgesia With Erector Spinae Plane Block After Pectus Excavatum Repair in Children Not yet recruiting NCT04081922
50 The Effect of Patient Position on the External Haller Index Value Among Patients With Pectus Excavatum Not yet recruiting NCT04046835

Search NIH Clinical Center for Pectus Excavatum

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Genetic Tests for Pectus Excavatum

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Genetic tests related to Pectus Excavatum:

# Genetic test Affiliating Genes
1 Pectus Excavatum 29
Sources

Anatomical Context for Pectus Excavatum

About this section

MalaCards organs/tissues related to Pectus Excavatum:

40
Heart, Breast, Lung, Testes, Bone, Skin, Liver
Sources

Publications for Pectus Excavatum

About this section

Articles related to Pectus Excavatum:

(show top 50) (show all 2628)
# Title Authors PMID Year
1
Familial congenital funnel chest. 61 56
3591831 1987
2
Congenital funnel chest. 61 56
20268692 1947
3
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
4
Analyzing Outcomes of Nuss and Ravitch Repair for Primary and Recurrent Pectus Excavatum in Adults. 61
31982438 2020
5
Treatment for Anterior Flail Chest With a Vacuum Bell. 61
31862493 2020
6
Severity of Pectus Excavatum is a Risk Factor for Primary Spontaneous Pneumothorax. 61
32040606 2020
7
The effect of pectus excavatum deformity on lung volume: fact or myth? 61
32495037 2020
8
Sudden cardiac arrest during Nuss procedure for pectus excavatum. 61
32532286 2020
9
Cardiac Transplantation and Consecutive Minimally Invasive Pectus Excavatum Repair. 61
32544457 2020
10
Robotic Takedown of Internal Mammary Artery to Prevent Occlusion From Bars During Nuss Pectus Repair. 61
31678049 2020
11
External caliper-based measurements of the modified percent depth as an alternative to cross-sectional imaging for assessing the severity of pectus excavatum. 61
32188580 2020
12
Post-operative pain and psychological outcomes following minimally invasive pectus excavatum repair: A report from the Society for Pediatric Anesthesia Improvement Network. 61
32491207 2020
13
Successful use of an enhanced recovery after surgery (ERAS) pathway to improve outcomes following the Nuss procedure for pectus excavatum. 61
32197827 2020
14
Occult tethered cord syndrome: a reversible cause of paraparesis not to be missed. 61
32519133 2020
15
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
16
Trends in the Treatment of Pectus Excavatum in the Netherlands. 61
32455445 2020
17
Complications of the "Nuss Procedure" In Pectus Excavatum. 61
32523904 2020
18
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report. 61
32357851 2020
19
Repair of Pectus Excavatum at the Time of Reoperative Cardiac Surgery. 61
31589857 2020
20
Physician-Estimated Depth as a Screening Tool for Computed Tomography Evaluation of Pectus Excavatum. 61
32451117 2020
21
Surface Topography Index: An Ignored Trait of Pectus Excavatum for Deformity Severity Assessment. 61
32376354 2020
22
Postoperative pain control following minimally invasive correction of pectus excavatum in pediatric patients: A systematic review. 61
32081359 2020
23
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. 61
32006683 2020
24
Host immune response against environmental nontuberculous mycobacteria and the risk populations of nontuberculous mycobacterial lung disease. 61
32451216 2020
25
Update on Body Shaping and Volume Restoration: The Role of Hyaluronic Acid. 61
32440901 2020
26
Detection of subclinical Harlequin syndrome in pediatric patients. 61
32160375 2020
27
Correction of a postpneumonectomy syndrome with congenital pectus excavatum using Ravitch's procedure and silicone breast implants. Report of a case. 61
32506024 2020
28
Chest X-ray Dose Equivalent Low-dose CT with Tin Filtration: Potential Role for the Assessment of Pectus Excavatum. 61
31471205 2020
29
The Quality of Web Sites' Health Information on Minimal Invasive Repair of Pectus Excavatum Using the DISCERN Instrument. 61
32396941 2020
30
Reduced Myocardial Strain Parameters in Subjects With Pectus Excavatum: Impaired Myocardial Function or Methodological Limitations Due to Chest Deformity? 61
32442666 2020
31
Recurrence of pectus excavatum in long-term follow-up after the Nuss procedure in young children based on the radiographic Haller index. 61
32507637 2020
32
Improvement in Polysomnographic Objective Sleep Quality in Adults with Pectus Excavatum After the Nuss Procedure. 61
31834454 2020
33
Numerical investigation of the sternoclavicular joint modeling technique for improving the surgical treatment of pectus excavatum. 61
32355303 2020
34
Cardiopulmonary resuscitation in pediatric pectus excavatum patients-Where is the heart? 61
32298510 2020
35
Sternal torsion in pectus excavatum is related to cardiac compression and chest malformation indexes. 61
31133283 2020
36
The Outcome of the Single Step Questionnaire in Pectus Excavatum Patients is Phase Dependent. 61
30822812 2020
37
False-positive electrocardiographic changes during exercise test in a patient with pectus excavatum. 61
32249937 2020
38
Development and validation of risk models for mortality and morbidity in 12 major pediatric surgical procedures: A study from the National Clinical Database-Pediatric of Japan. 61
32507636 2020
39
Update on Pregnancy after Heart Transplantation. 61
32464898 2020
40
TINAG mutation as a genetic cause of pectus excavatum. 61
31981812 2020
41
Optical imaging versus CT and plain radiography to quantify pectus severity: a systematic review and meta-analysis. 61
32395285 2020
42
Simple calculation of the optimal insertion depth of esophageal temperature probes in children. 61
31144223 2020
43
[Surgical Treatment of Pectus Excavatum in Patients with Marfan Syndrome Associated with Vertebral or Cardiovascular Disease]. 61
32393696 2020
44
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 61
32164556 2020
45
Recent Modifications of the Nuss Procedure: The Pursuit of Safety During the Minimally Invasive Repair of Pectus Excavatum. 61
32224740 2020
46
Multiple-bar Nuss operation: an individualized treatment scheme for patients with significantly asymmetric pectus excavatum. 61
32274163 2020
47
Aesthetic outcomes after surgical repair of pectus excavatum in females: Differences between patients and professional evaluators. 61
32203989 2020
48
An Auxiliary Subxiphoid Incision in Nuss Procedure for the Treatment of Complex Pectus Excavatum. 61
32169150 2020
49
Caring for People With Untreated Pectus Excavatum: An International Online Survey. 61
31730833 2020
50
The costochondral length in patients with pectus excavatum is longer than that of the normal thorax. 61
32006092 2020
Sources

Variations for Pectus Excavatum

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ClinVar genetic disease variations for Pectus Excavatum:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20):c.3605dup (p.Pro1203fs)duplication Pathogenic 590777 rs1569146993 22:42607706-42607707 22:42211700-42211701
2 DNAJC21 NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)SNV Pathogenic 598950 rs771063992 5:34937536-34937536 5:34937431-34937431
3 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
4 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
5 46;X;t(X;5)(p11.23;q35)dnTranslocation Pathogenic 267815
6 46;XY;t(7;13)(p15.3;q14.1)dnTranslocation Pathogenic 267837
7 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
8 FBN1 NM_000138.4(FBN1):c.840_843del (p.Asn280fs)deletion Pathogenic 374115 rs1057518909 15:48826296-48826299 15:48534099-48534102
9 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter)SNV Pathogenic/Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
10 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
11 ERCC5 NM_000123.3(ERCC5):c.2927_2928CT[1] (p.Leu977fs)short repeat Likely pathogenic 373982 rs1057518813 13:103525655-103525656 13:102873305-102873306
12 46;XX;t(8;14)(q21.2;q12)dnTranslocation Likely pathogenic 268005
13 46;XY;t(1;9;5)(compleX)dnTranslocation Likely pathogenic 267825
14 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
15 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs)short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808
16 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
17 46;XX;t(17;22)(q23;q12.2)dnTranslocation Uncertain significance 268011
18 SMC1A NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg)SNV Uncertain significance 373969 rs781817923 X:53410167-53410167 X:53383246-53383246
Sources

Expression for Pectus Excavatum

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Search GEO for disease gene expression data for Pectus Excavatum.
Sources

Pathways for Pectus Excavatum

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Pathways related to Pectus Excavatum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
ErbB signaling pathway 36 1
Show member pathways
 12.01 TP53 PTPN11 FGFR3 ABL1
2
Tyrosine Kinases / Adaptors 4
11.6 FGFR3 DDR2 ABL1
3
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.47 TP53 PTPN11 FGFR3 ABL1
4
TP53 Network 1
Show member pathways
 10.71 TP53 ABL1
5
Inhibition of Ribosome Biogenesis by p14(ARF) 63
10.66 TP53 ABL1
6
Endochondral Ossification 1
10.61 FGFR3 DDR2 CHST11
Sources

GO Terms for Pectus Excavatum

About this section

Biological processes related to Pectus Excavatum according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.67 FGFR3 DDR2 ABL1
2 regulation of cell cycle GO:0051726 9.65 TP53 DMD ABL1
3 peptidyl-tyrosine phosphorylation GO:0018108 9.63 FGFR3 DDR2 ABL1
4 platelet-derived growth factor receptor signaling pathway GO:0048008 9.52 PTPN11 ABL1
5 positive regulation of mitotic cell cycle GO:0045931 9.51 PTPN11 ABL1
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.5 TP53 PTPN11 ABL1
7 regulation of cellular senescence GO:2000772 9.43 TP53 ABL1
8 chondrocyte proliferation GO:0035988 9.4 FGFR3 DDR2
9 ER overload response GO:0006983 9.37 TP53 TMCO1
10 Bergmann glial cell differentiation GO:0060020 9.26 PTPN11 ABL1
11 endochondral bone growth GO:0003416 9.16 FGFR3 DDR2
12 regulation of protein export from nucleus GO:0046825 8.96 PTPN14 PTPN11
13 regulation of tissue remodeling GO:0034103 8.62 TP53 DDR2

Molecular functions related to Pectus Excavatum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.13 FGFR3 DDR2 ABL1
2 receptor tyrosine kinase binding GO:0030971 8.8 TP53 PTPN14 PTPN11
Sources

Sources for Pectus Excavatum

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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