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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 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 scoliosis. An important gene associated with Pectus Excavatum is DMD (Dystrophin), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Endochondral Ossification. The drugs tannic acid and Benzocaine 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 248)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 31.9 PIEZO2 FBN1
2 scoliosis 30.1 PIEZO2 FGFR3 FBN1 DMD CHST11
3 brachydactyly 29.5 FGFR3 FBN1 DDR2 CHST11
4 ptosis 29.4 TCF20 PIEZO2 DMD
5 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.8
6 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.6
7 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.5
8 osteofibrous dysplasia 12.0
9 loeys-dietz syndrome 11.8
10 pectus carinatum 11.8
11 marfan syndrome 11.8
12 noonan syndrome 1 11.7
13 zori stalker williams syndrome 11.5
14 arterial tortuosity syndrome 11.5
15 spondylometaepiphyseal dysplasia, short limb-hand type 11.5
16 congenital heart defects and skeletal malformations syndrome 11.5
17 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.5
18 leopard syndrome 11.5
19 acropectorovertebral dysplasia 11.3
20 long-thumb brachydactyly syndrome 11.3
21 metatropic dysplasia 11.3
22 cowden syndrome 1 11.3
23 shprintzen-goldberg craniosynostosis syndrome 11.3
24 acrocraniofacial dysostosis 11.3
25 camptodactyly syndrome, guadalajara, type ii 11.3
26 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.3
27 cranioectodermal dysplasia 1 11.3
28 mcdonough syndrome 11.3
29 orofaciodigital syndrome iii 11.3
30 insulin-like growth factor i 11.3
31 branchial arch syndrome, x-linked 11.3
32 mental retardation, x-linked, syndromic, turner type 11.3
33 emery-dreifuss muscular dystrophy 1, x-linked 11.3
34 camptodactyly, tall stature, and hearing loss syndrome 11.3
35 legius syndrome 11.3
36 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
37 cranioectodermal dysplasia 2 11.3
38 choanal atresia and lymphedema 11.3
39 catel-manzke syndrome 11.3
40 ruijs-aalfs syndrome 11.3
41 hennekam syndrome 11.3
42 chromosome 17q11.2 deletion syndrome 11.3
43 ring chromosome 12 11.3
44 trisomy 3 mosaicism 11.3
45 pneumothorax 11.1
46 pain agnosia 10.9
47 orthostatic intolerance 10.8
48 pericarditis 10.8
49 hemopericardium 10.7
50 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:

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
2 homeostasis/metabolism MP:0005376 10.13 ABL1 DDR2 DMD DNAJC21 FBN1 FGFR3
3 mortality/aging MP:0010768 10.09 ABL1 CHST11 DDR2 DMD DNAJC21 FBN1
4 cardiovascular system MP:0005385 10.07 ABL1 CHST11 DDR2 DMD FBN1 PTPN14
5 craniofacial MP:0005382 10.05 ABL1 CHST11 DDR2 FBN1 FGFR3 PTPN14
6 nervous system MP:0003631 10.02 ABL1 CHST11 DDR2 DMD FBN1 FGFR3
7 limbs/digits/tail MP:0005371 10 CHST11 DDR2 DMD DNAJC21 FBN1 FGFR3
8 adipose tissue MP:0005375 9.93 DDR2 DMD FBN1 TCF20 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 9.73 CHST11 DMD FBN1 FGFR3 PTPN14 TP53
12 respiratory system MP:0005388 9.63 ABL1 CHST11 DMD FBN1 FGFR3 TP53
13 skeleton MP:0005390 9.61 ABL1 CHST11 DDR2 DMD DNAJC21 FBN1
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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Desflurane Approved Phase 4 57041-67-5 42113
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 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 Anesthetics, Local Phase 4
15 Central Nervous System Depressants Phase 4
16 Analgesics Phase 4
17 Analgesics, Opioid Phase 4
18 Narcotics Phase 4
19 Tea Phase 4
20
Midazolam Approved, Illicit 59467-70-8 4192
21
Clonidine Approved 4205-90-7 2803
22
Sevoflurane Approved, Vet_approved 28523-86-6 5206
23
Dexmedetomidine Approved, Vet_approved 113775-47-6 68602 5311068
24
Remifentanil Approved 132875-61-7 60815
25
Pseudoephedrine Approved 90-82-4 7028
26
Ephedrine Approved 299-42-3 9294
27
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
28 insulin
29 Insulin, Globin Zinc
30 Adjuvants, Anesthesia
31 Neurotransmitter Agents
32 Adrenergic Agonists
33 Analgesics, Non-Narcotic
34 Vasoconstrictor Agents
35 Adrenergic alpha-2 Receptor Agonists
36 Hypnotics and Sedatives
37 Cholinergic Antagonists
38 Adrenergic Agents
39 Antiemetics

Interventional clinical trials:

(show all 50)
# 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 Comparison of Physical and Psychosocial Characteristics of Pectus Excavatum and Carinatum Patients With Healthy Controls Recruiting NCT04172142
30 Comparison of Postoperative Recovery After Preoperative Carbohydrate Loading With Standard Fasting in Pediatric Patients Undergoing Nuss Operation Recruiting NCT04068324
31 Evaluating Outcomes for Pectus Excavatum: Pain, Exercise, and Psychological Well-being Recruiting NCT02337621
32 Effects of Exercise Therapy in Addition to Vacuum Bell in Patients With Pectus Carinatum Recruiting NCT04167865
33 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186
34 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
35 Effects of Exercise Therapy in Addition to Compression Orthotics in Patients With Pectus Carinatum Recruiting NCT04167800
36 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
37 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
38 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265
39 Prospective Randomized Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Active, not recruiting NCT01863498
40 Preemptive Genotyping of Children and Adolescents at Risk for Surgery and Subsequent Pain Management Active, not recruiting NCT01813695
41 Determining the Effect of Probiotics on Microbiome and Volatile Organic Compounds in Patients After Surgical Repair of Congenital Diaphragmatic Hernia Active, not recruiting NCT03787160
42 Genetic, Epigenetic, Psychosocial, and Biological Determinants of Post-surgical Pain After Pectus or Spine Surgery Enrolling by invitation NCT04031716
43 Postoperative Analgesia With Erector Spinae Plane Block After Pectus Excavatum Repair in Children Not yet recruiting NCT04081922
44 Optical Surface Imaging Versus Conventional Photography as a Tool to Document the Surface Geometry of Pectus Excavatum Not yet recruiting NCT04185870
45 The Effect of Patient Position on the External Haller Index Value Among Patients With Pectus Excavatum Not yet recruiting NCT04046835
46 Quantification of Chest Wall Changes After Nuss Bar Removal Utilizing Three-dimensional Optical Surface Scans Not yet recruiting NCT04052321
47 Three-dimensional Optical Surface Imaging as a Diagnostic Tool for Severity Quantification and Clinical Decision Making in Pectus Excavatum Not yet recruiting NCT03926078
48 Comparing Analgesic Requirements in Patients Receiving Nuss Operation Using Remifentanil or Dexmedetomidine as Anesthetic Adjuvants Not yet recruiting NCT04073758 Dexmedetomidine
49 Does Acupressure Decrease Post-operative Nausea and Vomiting After the NUSS Procedure? Terminated NCT00892216
50 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:

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

Publications for Pectus Excavatum

About this section

Articles related to Pectus Excavatum:

(show top 50) (show all 2578)
# 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
Successful bilateral lung transplantation and simultaneous Nuss technique correction of pectus excavatum post-allogeneic haematopoietic stem cell transplantation. 61
31596480 2020
5
Original bar fixation technique in minimally invasive repair of pectus excavatum in adolescents: A 36-case series. 61
31948876 2020
6
The challenge of simultaneous major aortic surgery and pectus excavatum repair in a patient with Ehlers-Danlos type IV syndrome. 61
31730724 2020
7
Wound complication after modified Ravitch for pectus excavatum: A case of conservative treatment enhanced by pectoralis muscle transposition. 61
31901741 2020
8
Impact of pectus excavatum on cardiac morphology and function according to the site of maximum compression: effect of physical exertion and respiratory cycle. 61
30938414 2020
9
Aortic haemorrhage during late pectus bar removal. 61
31230067 2020
10
Does the modelling of the pectus bar affect its stability? Rationale for using a short flat bar. 61
31501902 2020
11
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. 61
32006683 2020
12
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants. 61
32021600 2020
13
Quadrangular Fixation of Pectus Bars to Prevent Displacement in Nuss Procedure. 61
30795031 2020
14
TINAG mutation as a genetic cause of pectus excavatum. 61
31981812 2020
15
Feasibility of a subcutaneous implantable cardioverter-defibrillator in a patient with pectus excavatum. 61
31387797 2020
16
How Does Resident Participation Alter the Outcome of Surgery for Pectus Excavatum? 61
31462386 2020
17
Improved Dynamics of Thoracic Cage and Exercise Capacity after Nuss Repair for Pectus Excavatum. 61
30861534 2020
18
The costochondral length in patients with pectus excavatum is longer than that of the normal thorax. 61
32006092 2020
19
Analyzing Outcomes of Nuss and Ravitch Repair for Primary and Recurrent Pectus Excavatum in Adults. 61
31982438 2020
20
Combining Correction of Pectus Excavatum and Open Heart Surgery in a Single-Stage Procedure. 61
31494137 2020
21
Delayed Presentation of Cardiac Perforation After Modified Ravitch Pectus Excavatum Repair. 61
31233721 2020
22
Surgical Repair of Complete Congenital Sternal Cleft Associated With Pectus Excavatum. 61
31207243 2020
23
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. 61
31604776 2019
24
Treatment for anterior flail chest with a vacuum bell. 61
31862493 2019
25
The medial breast margin sign: A new sign of pectus excavatum in adult females and comparison with classic signs. 61
31535457 2019
26
[Simultaneous surgical treatment for pectus excavatum combined with congenital cardiothoracic diseases]. 61
31969503 2019
27
Cardiovascular magnetic resonance assessment of biventricular changes during vacuum bell correction of pectus excavatum. 61
32030258 2019
28
Short-term Outcomes After Pectus Excavatum Repair in Adults and Children. 61
31301479 2019
29
Improvement in Polysomnographic Objective Sleep Quality in Adults with Pectus Excavatum After the Nuss Procedure. 61
31834454 2019
30
Deterioration of chest wall depression causing congestive hepatopathy after an open thoracostomy window in a patient with pectus excavatum and tuberculosis empyema. 61
31679134 2019
31
Intraoperative intercostal nerve cryoablation During the Nuss procedure reduces length of stay and opioid requirement: A randomized clinical trial. 61
30935731 2019
32
The incidence of neuropathic pain after intercostal cryoablation during the Nuss procedure. 61
31760443 2019
33
Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire. 61
31056346 2019
34
Scoliosis Progression After the Nuss Procedure for Pectus Excavatum: A Case Report. 61
31731992 2019
35
Scoliosis Progression After the Nuss Procedure for Pectus Excavatum: A Case Report. 61
31974978 2019
36
Measuring the impact of surgical intervention on pediatric pectus excavatum using white light scanning. 61
30732932 2019
37
Caring for People With Untreated Pectus Excavatum: An International Online Survey. 61
31730833 2019
38
[The pectus excavatum: Secondary surgery with implants]. 61
31230857 2019
39
Left congenital diaphragmatic hernia-associated musculoskeletal deformities. 61
31482324 2019
40
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation. 61
31471673 2019
41
Postoperative pain control modalities for pectus excavatum repair: A prospective observational study of cryoablation compared to results of a randomized trial of epidural vs patient-controlled analgesia. 61
31699436 2019
42
Opioid use and length of stay following minimally invasive pectus excavatum repair in 436 patients - Benefits of an enhanced recovery pathway. 61
30922685 2019
43
Robotic Takedown of Internal Mammary Artery to Prevent Occlusion from Bars During Nuss Pectus Repair. 61
31678049 2019
44
Three-Dimensional Optical Imaging for Pectus Excavatum Assessment. 61
31201783 2019
45
Helical Tomotherapy for patients with pectus excavatum treated for early-stage breast cancer. 61
31650653 2019
46
The Use of Cryoanalgesia in Minimally Invasive Repair of Pectus Excavatum: Lessons Learned. 61
31259649 2019
47
Epidural versus PCA Pain Management after Pectus Excavatum Repair: A Multi-Institutional Prospective Randomized Trial. 61
31600804 2019
48
Surgical Correction of Pectus Excavatum Using a Rib Graft Strut Following Excision of Costal Cartilages. 61
31571755 2019
49
Repair of Pectus Excavatum at the Time of Reoperative Cardiac Surgery. 61
31589857 2019
50
Serum lactate dehydrogenase activity and its isoenzyme patterns in patients with pectus excavatum. 61
31737320 2019
Sources

Variations for Pectus Excavatum

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ClinVar genetic disease variations for Pectus Excavatum:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;X;t(X;5)(p11.23;q35)dnTranslocation Pathogenic 267815
2 46;XY;t(7;13)(p15.3;q14.1)dnTranslocation Pathogenic 267837
3 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
4 TCF20 NM_005650.3(TCF20):c.3605dup (p.Pro1203fs)duplication Pathogenic 590777 rs1569146993 22:42607706-42607707 22:42211700-42211701
5 DNAJC21 NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)SNV Pathogenic 598950 rs771063992 5:34937536-34937536 5:34937431-34937431
6 FBN1 NM_000138.4(FBN1):c.840_843del (p.Asn280fs)deletion Pathogenic 374115 rs1057518909 15:48826296-48826299 15:48534099-48534102
7 TP53 NM_000546.5(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
8 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter)SNV Pathogenic/Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
9 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
10 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs)short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808
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 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
15 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
16 46;XX;t(17;22)(q23;q12.2)dnTranslocation Uncertain significance 268011
17 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.
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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
Endochondral Ossification 1
10.61 FGFR3 DDR2 CHST11
3
TP53 Network 1
Show member pathways
 10.6 TP53 ABL1
4
Inhibition of Ribosome Biogenesis by p14(ARF) 63
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 regulation of cell proliferation GO:0042127 9.61 TP53 CHST11 ABL1
2 protein autophosphorylation GO:0046777 9.58 FGFR3 DDR2 ABL1
3 regulation of cell cycle GO:0051726 9.54 TP53 DMD ABL1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.5 FGFR3 DDR2 ABL1
5 negative regulation of mitotic cell cycle GO:0045930 9.46 TP53 ABL1
6 regulation of cellular senescence GO:2000772 9.26 TP53 ABL1
7 chondrocyte proliferation GO:0035988 9.16 FGFR3 DDR2
8 endochondral bone growth GO:0003416 8.96 FGFR3 DDR2
9 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 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 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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