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MCID: PCT003
MIFTS: 48

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 57 29 6 33
Congenital Pectus Excavatum 72
Funnel Chest 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
pectus excavatum:
Inheritance autosomal dominant inheritance


Classifications:

ICD10: 33


External Ids:

OMIM 57 169300
ICD10 33 Q67.6
MedGen 42 C0016842
UMLS 72 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 scoliosis. An important gene associated with Pectus Excavatum is DMD (Dystrophin), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and miRNAs involved in DNA damage response. The drugs tannic acid and Desflurane 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 : 75 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 245)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 32.0 PIEZO2 FBN1
2 scoliosis 30.3 PIEZO2 FGFR3 FBN1 DMD
3 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.8
4 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.6
5 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.5
6 osteofibrous dysplasia 12.0
7 loeys-dietz syndrome 11.8
8 pectus carinatum 11.8
9 marfan syndrome 11.8
10 noonan syndrome 1 11.7
11 zori stalker williams syndrome 11.5
12 arterial tortuosity syndrome 11.5
13 spondylometaepiphyseal dysplasia, short limb-hand type 11.5
14 congenital heart defects and skeletal malformations syndrome 11.5
15 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.5
16 leopard syndrome 11.5
17 long-thumb brachydactyly syndrome 11.3
18 metatropic dysplasia 11.3
19 cowden syndrome 1 11.3
20 shprintzen-goldberg craniosynostosis syndrome 11.3
21 camptodactyly syndrome, guadalajara, type ii 11.3
22 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.3
23 cranioectodermal dysplasia 1 11.3
24 mcdonough syndrome 11.3
25 orofaciodigital syndrome iii 11.3
26 insulin-like growth factor i 11.3
27 mental retardation, x-linked, syndromic, turner type 11.3
28 emery-dreifuss muscular dystrophy 1, x-linked 11.3
29 camptodactyly, tall stature, and hearing loss syndrome 11.3
30 legius syndrome 11.3
31 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
32 cranioectodermal dysplasia 2 11.3
33 choanal atresia and lymphedema 11.3
34 catel-manzke syndrome 11.3
35 ruijs-aalfs syndrome 11.3
36 hennekam syndrome 11.3
37 acropectorovertebral dysplasia f form 11.3
38 chromosome 17q11.2 deletion syndrome 11.3
39 kaplan plauchu fitch syndrome 11.3
40 ring chromosome 12 11.3
41 trisomy 3 mosaicism 11.3
42 pneumothorax 11.1
43 pain agnosia 10.9
44 orthostatic intolerance 10.8
45 pericarditis 10.8
46 hemopericardium 10.7
47 heart septal defect 10.7
48 overgrowth syndrome 10.7
49 pericardial effusion 10.7
50 atrial heart septal defect 10.7

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:

32
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767

Symptoms via clinical synopsis from OMIM:

57
Thorax:
pectus excavatum

Clinical features from OMIM:

169300

MGI Mouse Phenotypes related to Pectus Excavatum:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
2 mortality/aging MP:0010768 10.09 ABL1 CHST11 DDR2 DMD DNAJC21 FBN1
3 craniofacial MP:0005382 10.08 ABL1 CHST11 DDR2 FBN1 FGFR3 PTPN14
4 immune system MP:0005387 10.02 ABL1 CHST11 DMD FBN1 FGFR3 PTPN14
5 endocrine/exocrine gland MP:0005379 9.99 ABL1 CHST11 DDR2 DMD FBN1 TP53
6 nervous system MP:0003631 9.97 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
7 limbs/digits/tail MP:0005371 9.93 CHST11 DDR2 DMD FBN1 FGFR3 TP53
8 digestive/alimentary MP:0005381 9.92 ABL1 CHST11 DMD FGFR3 TP53
9 muscle MP:0005369 9.88 ABL1 CHST11 DDR2 DMD FBN1 TP53
10 no phenotypic analysis MP:0003012 9.8 DDR2 DMD FBN1 FGFR3 PIEZO2 TP53
11 renal/urinary system MP:0005367 9.65 CHST11 DMD FBN1 FGFR3 TP53
12 respiratory system MP:0005388 9.63 ABL1 CHST11 DMD FBN1 FGFR3 TP53
13 skeleton MP:0005390 9.5 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
14 vision/eye MP:0005391 9.17 ABL1 CHST11 DDR2 DMD FGFR3 PTPN14
Sources

Drugs & Therapeutics for Pectus Excavatum

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Desflurane Approved Phase 4 57041-67-5 42113
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
6
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
7
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
8
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
9
Morphine Approved, Investigational Phase 4 57-27-2 5288826
10 Platelet Aggregation Inhibitors Phase 4
11 Anesthetics, Inhalation Phase 4
12 Anesthetics, General Phase 4
13 Adjuvants, Anesthesia Phase 4
14 Anesthetics, Intravenous Phase 4
15 Anesthetics Phase 4
16 Analgesics Phase 4
17 Anesthetics, Local Phase 4
18 Central Nervous System Depressants Phase 4
19 Analgesics, Opioid Phase 4
20 Peripheral Nervous System Agents Phase 4
21 Narcotics Phase 4
22 Tea Phase 4
23
Clonidine Approved 4205-90-7 2803
24
Midazolam Approved, Illicit 59467-70-8 4192
25 Antiemetics

Interventional clinical trials:

(show all 43)
# 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 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
17 Is Lung Ultrasound the Technique of Choice for the Diagnosis of Pneumothorax Following the Nuss Procedure for Pectus Excavatum? Completed NCT03073616
18 Phase 3 Multicenter Study of Magnetic Mini-Mover for Pectus Excavatum Completed NCT01327274
19 Prospective Randomized Trial: Pain Management Strategy After Pectus Excavatum Repair Completed NCT00413582 Epidural Analgesia;Patient-Controlled IV Analgesia
20 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%)
21 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
22 Discovering Laryngomalacia Completed NCT01165489
23 Society for Pediatric Anesthesia Improvement Network (SPAIN) Chest Wall Deformity Project (Pectus Repair) Completed NCT02098681
24 Functional Capacity of Exercise and Lung Function in Patients Submitted to Early Rehabilitation Program After Nuss Procedure: a Randomized Controlled Trial Completed NCT02441452
25 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
26 An Observational Study of Chest Wall Motion Analysis in Disease Completed NCT02958683
27 Cardiorespiratory Assessment and Quality of Life After Surgical Correction of Congenital Wall Malformations Recruiting NCT03770390
28 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities. Pectus Excavatum Pectus-Carinatum. Single-center Study Recruiting NCT02528656
29 Evaluating Outcomes for Pectus Excavatum: Pain, Exercise, and Psychological Well-being Recruiting NCT02337621
30 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186
31 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program: Short and Long-term Evaluation of Pain, Nausea, Sleep, and Rehabilitation Via Tele-monitoring Recruiting NCT03100669
32 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
33 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
34 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265
35 Prospective Randomized Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Active, not recruiting NCT01863498
36 Preemptive Genotyping of Children and Adolescents at Risk for Surgery and Subsequent Pain Management Active, not recruiting NCT01813695
37 Determining the Effect of Probiotics on Microbiome and Volatile Organic Compounds in Patients After Surgical Repair of Congenital Diaphragmatic Hernia Active, not recruiting NCT03787160
38 Genetic, Epigenetic, Psychosocial, and Biological Determinants of Post-surgical Pain After Pectus or Spine Surgery Enrolling by invitation NCT04031716
39 The Effect of Patient Position on the External Haller Index Value Among Patients With Pectus Excavatum Not yet recruiting NCT04046835
40 Quantification of Chest Wall Changes After Nuss Bar Removal Utilizing Three-dimensional Optical Surface Scans Not yet recruiting NCT04052321
41 Three-dimensional Optical Surface Imaging as a Diagnostic Tool for Severity Quantification and Clinical Decision Making in Pectus Excavatum Not yet recruiting NCT03926078
42 Does Acupressure Decrease Post-operative Nausea and Vomiting After the NUSS Procedure? Terminated NCT00892216
43 The Effectiveness of Clinical Hypnotherapy in Reducing Anxiety and Pain in Major Surgical Procedures (Nuss and Scoliosis Repair) Withdrawn NCT02376634

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

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MalaCards organs/tissues related to Pectus Excavatum:

41
Heart, Breast, Lung, Testes, Bone, Skin, Liver
Sources

Publications for Pectus Excavatum

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Articles related to Pectus Excavatum:

(show top 50) (show all 2534)
# Title Authors PMID Year
1
Familial congenital funnel chest. 38 8
3591831 1987
2
Congenital funnel chest. 38 8
20268692 1947
3
Evaluation of the adolescent or adult with some features of Marfan syndrome. 71
22237449 2012
4
Bilateral ultrasound-guided erector spinae plane block for postoperative pain management in surgical repair of pectus excavatum via Ravitch technique. 38
30684919 2019
5
Behavioural disorders in children with pectus excavatum in China: a retrospective cohort study with propensity score matching and risk prediction model. 38
30824916 2019
6
Ultrasound-Guided Serratus Anterior Plane Block for Pain Management Following Minimally Invasive Repair of Pectus Excavatum. 38
31097336 2019
7
Preoperative multimodality imaging of pectus excavatum: State of the art review and call for standardization. 38
31307639 2019
8
Feasibility of a subcutaneous implantable cardioverter-defibrillator in a patient with pectus excavatum. 38
31387797 2019
9
Left thoracotomy for coronary artery bypass grafting after sternoturnover for pectus excavatum: a case report. 38
31420770 2019
10
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 38
31145547 2019
11
Microdeformational wound therapy: A novel option to salvage complex wounds associated with the Nuss procedure. 38
30967247 2019
12
Successful management for repeated bar displacements after Nuss method by two bars connected by a stabilizer. 38
31333773 2019
13
Continuous Erector Spinae Plane Blocks for Adult Pectus Excavatum Repair. 38
30597141 2019
14
Left Thoracotomy for Redo Mitral Valve Replacement in Giant Left Atrium and Severe Pectus Excavatum. 38
29654724 2019
15
Pectus excavatum is associated with sleep-related breathing disorders in children. 38
31273042 2019
16
Short-term Outcomes After Pectus Excavatum Repair in Adults and Children. 38
31301479 2019
17
A case of gossypiboma diagnosed with transanal double-balloon enteroscopy. 38
30456723 2019
18
Aortic haemorrhage during late pectus bar removal. 38
31230067 2019
19
Response to Letters to the Editor Regarding "An Open, Prospective Study to Evaluate the Effectiveness and Safety of Hyaluronic Acid for Pectus Excavatum Treatment". 38
31225866 2019
20
Use of a Capture-Guidance Surgical Instrument to Minimize Muscle Stripping During Nuss Repair of Pectus Excavatum. 38
30946004 2019
21
Comments on: An Open, Prospective Study to Evaluate the Effectiveness and Safety of Hyaluronic Acid for Pectus Excavatum Treatment. 38
31219530 2019
22
The Use of Cryoanalgesia in Minimally Invasive Repair of Pectus Excavatum: Lessons Learned. 38
31259649 2019
23
Delayed Presentation of Cardiac Perforation After Modified Ravitch Pectus Excavatum Repair. 38
31233721 2019
24
Utility of radiation-free imaging for initial evaluation of pectus excavatum. 38
31219557 2019
25
Sternal elevation techniques during the minimally invasive repair of pectus excavatum. 38
31199434 2019
26
The Nuss procedure for repair of pectus excavatum: 20 error traps and a culture of safety. 38
31171153 2019
27
Bone-cartilage proportion in deformed ribs of male pectus excavatum patients. 38
30889996 2019
28
Surgical repair of Complete Congenital Sternal Cleft associated with Pectus Excavatum. 38
31207243 2019
29
Pectus excavatum repair using bridge fixation system. 38
31003586 2019
30
[The pectus excavatum: Secondary surgery with implants]. 38
31230857 2019
31
Autologous Lipotransfer for Pectus Excavatum Correction. 38
31219526 2019
32
3D Optical Imaging for Pectus Excavatum Assessment. 38
31201783 2019
33
Rescue Nuss procedure for inferior vena cava compression syndrome following posterior scoliosis surgery in Marfan syndrome. 38
30291489 2019
34
Nuss procedure for patients with pectus excavatum with a history of intrathoracic surgery. 38
30638895 2019
35
Surgical management of pectus excavatum in China: results of a survey amongst members of the Chinese Association of Thoracic Surgeons. 38
31205920 2019
36
An Open, Prospective Study to Evaluate the Effectiveness and Safety of Hyaluronic Acid for Pectus Excavatum Treatment. 38
30388191 2019
37
Simple calculation of the optimal insertion depth of esophageal temperature probes in children. 38
31144223 2019
38
[Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q]. 38
31030439 2019
39
Sternal torsion in pectus excavatum is related to cardiac compression and chest malformation indexes. 38
31133283 2019
40
Improvement of cardiopulmonary function after minimally invasive surgical repair of pectus excavatum (Nuss procedure) in children. 38
31143030 2019
41
Exploring immunomodulation by endocrine changes in Lady Windermere syndrome. 38
30697704 2019
42
Feasibility and Clinical Effectiveness of Three-Dimensional Printed Model-Assisted Nuss Procedure. 38
30389445 2019
43
Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire. 38
31056346 2019
44
Impact of pectus excavatum on cardiac morphology and function according to the site of maximum compression: effect of physical exertion and respiratory cycle. 38
30938414 2019
45
Progressive reduction of hospital length of stay following minimally invasive repair of pectus excavatum: A retrospective comparison of three analgesia modalities, the role of addressing patient anxiety, and reframing patient expectations. 38
30686518 2019
46
A novel technique to measure severity of pediatric pectus excavatum using white light scanning. 38
29754877 2019
47
Bilateral Lung Transplantation and Simultaneous Pectus Excavatum Correction Using the Nuss Technique. 38
30326236 2019
48
Early cost-utility estimation of the surgical correction of pectus excavatum with the Nuss bar. 38
30380039 2019
49
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. 38
31030682 2019
50
[Inferior vena cava compression in children with pectus excavatum]. 38
31056865 2019
Sources

Variations for Pectus Excavatum

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ClinVar genetic disease variations for Pectus Excavatum:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1): c.840_843del (p.Asn280fs) deletion Pathogenic rs1057518909 15:48826296-48826299 15:48534099-48534102
2 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
3 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
4 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
5 TCF20 NM_005650.3(TCF20): c.3605dup (p.Pro1203fs) duplication Pathogenic 22:42607707-42607707 22:42211701-42211701
6 DNAJC21 NM_001012339.3(DNAJC21): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic 5:34937536-34937536 5:34937431-34937431
7 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
8 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201217593 X:31196064-31196064 X:31177947-31177947
9 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
10 ERCC5 NM_000123.3(ERCC5): c.2927_2928CT[1] (p.Leu977fs) short repeat Likely pathogenic rs1057518813 13:103525658-103525659 13:102873308-102873309
11 FAM120AOS NM_198841.4(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 9:96209921-96209921 9:93447639-93447639
12 46;XX;t(8;14)(q21.2;q12)dn Translocation Likely pathogenic
13 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic X:135122216-135122232 X:136040057-136040073
14 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
15 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 X:53410167-53410167 X:53383246-53383246
16 SOX3 NM_005634.2(SOX3): c.735_737dup (p.Ala248dup) duplication Uncertain significance rs398124211 X:139586489-139586491 X:140504324-140504326
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
Tyrosine Kinases / Adaptors 4
11.3 FGFR3 DDR2 ABL1
2
miRNAs involved in DNA damage response 1
11.02 TP53 ABL1
3
Endochondral Ossification 1
10.61 FGFR3 DDR2 CHST11
4
TP53 Network 1
Show member pathways
 10.6 TP53 ABL1
5
Inhibition of Ribosome Biogenesis by p14(ARF) 64
10.5 TP53 ABL1
Sources

GO Terms for Pectus Excavatum

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

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.5 FGFR3 DDR2 ABL1
2 cell differentiation GO:0030154 9.46 TP53 DMD DDR2 ABL1
3 protein autophosphorylation GO:0046777 9.43 FGFR3 DDR2 ABL1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.4 FGFR3 ABL1
5 negative regulation of apoptotic process GO:0043066 9.37 TP53 CHST11
6 chondrocyte proliferation GO:0035988 8.96 FGFR3 DDR2
7 endochondral bone growth GO:0003416 8.62 FGFR3 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 8.8 FGFR3 DDR2 ABL1
Sources

Sources for Pectus Excavatum

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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