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MCID: PCT003
MIFTS: 46

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 58 30 6
Congenital Pectus Excavatum 74
Funnel Chest 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
pectus excavatum:
Inheritance autosomal dominant inheritance


Classifications:

ICD10: 34


External Ids:

OMIM 58 169300
ICD10 34 Q67.6
MedGen 43 C0016842
SNOMED-CT via HPO 70 263681008 391987005
UMLS 74 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 FBN1 (Fibrillin 1), and among its related pathways/superpathways are miRNAs involved in DNA damage response and Inhibition of Ribosome Biogenesis by p14(ARF). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone, and related phenotypes are pectus excavatum and mortality/aging

Wikipedia : 77 Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib... more...

Description 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 132)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 31.9 FBN1 PIEZO2
2 scoliosis 30.5 DMD FBN1 FGFR3 PIEZO2
3 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.7
4 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.4
5 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.4
6 osteofibrous dysplasia 11.9
7 pectus carinatum 11.6
8 zori stalker williams syndrome 11.4
9 spondylometaepiphyseal dysplasia, short limb-hand type 11.4
10 congenital heart defects and skeletal malformations syndrome 11.4
11 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.4
12 long-thumb brachydactyly syndrome 11.2
13 arterial tortuosity syndrome 11.2
14 camptodactyly syndrome, guadalajara, type ii 11.2
15 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.2
16 cranioectodermal dysplasia 1 11.2
17 mcdonough syndrome 11.2
18 orofaciodigital syndrome iii 11.2
19 insulin-like growth factor i 11.2
20 mental retardation, x-linked, syndromic, turner type 11.2
21 emery-dreifuss muscular dystrophy 1, x-linked 11.2
22 camptodactyly, tall stature, and hearing loss syndrome 11.2
23 legius syndrome 11.2
24 cranioectodermal dysplasia 2 11.2
25 choanal atresia and lymphedema 11.2
26 catel-manzke syndrome 11.2
27 ruijs-aalfs syndrome 11.2
28 noonan syndrome with multiple lentigines 11.2
29 acropectorovertebral dysplasia f form 11.2
30 chromosome 17q11.2 deletion syndrome 11.2
31 kaplan plauchu fitch syndrome 11.2
32 ring chromosome 12 11.2
33 trisomy 3 mosaicism 11.2
34 marfan syndrome 10.6
35 heart disease 10.6
36 pain agnosia 10.5
37 breast cancer 10.5
38 thoracic outlet syndrome 10.5
39 orthostatic intolerance 10.4
40 atrial fibrillation 10.4
41 cardiac tamponade 10.4
42 rere-related disorders 10.4
43 laryngomalacia 10.3
44 tetralogy of fallot 10.3
45 pseudoarthrosis 10.3
46 idiopathic scoliosis 10.3
47 depression 10.3
48 syncope 10.3
49 scoliosis, isolated 1 10.3
50 tracheoesophageal fistula with or without esophageal atresia 10.3

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:

33
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767

Symptoms via clinical synopsis from OMIM:

58
Thorax:
pectus excavatum

Clinical features from OMIM:

169300

MGI Mouse Phenotypes related to Pectus Excavatum:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.06 ABL1 CHST11 DMD DNAJC21 FBN1 FGFR3
2 behavior/neurological MP:0005386 10.04 ABL1 DMD FBN1 FGFR3 PIEZO2 TMCO1
3 craniofacial MP:0005382 9.95 ABL1 CHST11 FBN1 FGFR3 TMCO1 TP53
4 digestive/alimentary MP:0005381 9.93 ABL1 CHST11 DMD FGFR3 TP53 WDR35
5 nervous system MP:0003631 9.92 ABL1 CHST11 DMD FBN1 FGFR3 PIEZO2
6 limbs/digits/tail MP:0005371 9.91 CHST11 DMD FBN1 FGFR3 TP53 WDR35
7 muscle MP:0005369 9.85 ABL1 CHST11 DMD FBN1 TP53 WDR35
8 no phenotypic analysis MP:0003012 9.65 DMD FBN1 FGFR3 PIEZO2 TP53
9 renal/urinary system MP:0005367 9.55 CHST11 DMD FBN1 FGFR3 TP53
10 respiratory system MP:0005388 9.5 ABL1 CHST11 DMD FBN1 FGFR3 TP53
11 skeleton MP:0005390 9.23 ABL1 CHST11 DMD FBN1 FGFR3 TMCO1
Sources

Drugs & Therapeutics for Pectus Excavatum

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 4 1401-55-4
3
Desflurane Approved Phase 4 57041-67-5 42113
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Hydromorphone Approved, Illicit Phase 4,Not Applicable 466-99-9 5284570
6
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Not Applicable 437-38-7 3345
9
Morphine Approved, Investigational Phase 4 57-27-2 5288826
10 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
11 Anesthetics, Inhalation Phase 4
12 Central Nervous System Depressants Phase 4,Not Applicable
13 Anesthetics, General Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Peripheral Nervous System Agents Phase 4,Not Applicable
16 Analgesics Phase 4,Not Applicable
17 Anesthetics, Local Phase 4,Not Applicable
18 Analgesics, Opioid Phase 4
19 Anesthetics, Intravenous Phase 4
20 Adjuvants, Anesthesia Phase 4
21 Narcotics Phase 4,Not Applicable
22 Tea Phase 4
23
Clonidine Approved Not Applicable 4205-90-7 2803
24
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
25
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
26 Antiemetics Not Applicable

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Pulmonary Mechanics During Minimally Invasive Repair of Pectus Excavatum Unknown status NCT01486953 Phase 4 Desflurane;Sevoflurane
2 Comparison of IV PCA and Wound Infusion After Repair of Pectus Excavatum Completed NCT01908491 Phase 4
3 Cryoanalgesia vs. Epidural in the Nuss Procedure Completed NCT02721017 Phase 4 Thoracic epidural (ropivicaine, fentanyl)
4 Sub-Paraspinal Block in Nuss Patients. A Pilot Project Completed NCT02169297 Phase 4
5 A Comparison Trial Between PCA and Epidural Analgesia for Pectus Excavatum Repair Terminated NCT02056301 Phase 4 Hydromorphone;Morphine
6 Magnetic Mini-Mover Procedure to Treat Pectus Excavatum Completed NCT00466206 Phase 1, Phase 2
7 "A Multicenter Study Comparing the Clinical Outcomes of the Nuss and Ravitch Procedures for Repair Of Pediatric Pectus Excavatum Unknown status NCT00236132
8 Short and Long-term Effects of Surgical Repair of Pectus Deformities Unknown status NCT01329120
9 Evaluation of a New Model of Metallic Bar and Stabilizer for Use in MIRPE Unknown status NCT03087734 Not Applicable
10 Prediction of Acute Postoperative Pain and Analgesic Consumption Unknown status NCT02230865
11 Non-invasive Negative Pressure Treatment for Pectus Excavatum Completed NCT01816373 Not Applicable
12 Multicenter Trial of Magnetic Mini-Mover for Pectus Excavatum Completed NCT01327274 Not Applicable
13 Clustering Among the Clinical Profiles of Patients With Pectus Excavatum Completed NCT03086499
14 Hemodynamic Repercussions of the Correction (Surgical and Non Surgical) of Pectus Excavatum-type Thoracic Deformities Completed NCT02174796 Not Applicable
15 Treatment of Pectus Excavatum Deformity Using Macrolane Filler Completed NCT01750112 Not Applicable
16 Post Operative Pain Control Using Ropivacaine and the ON-Q System in the Adult Pectus Excavatum Patient Completed NCT01816477 Not Applicable Epidural (ropivicaine 0.25%)
17 Pain Management for Pectus Excavatum Repair Completed NCT00413582 Not Applicable Epidural Analgesia;Patient-Controlled IV Analgesia
18 Prediction and Characterization of Acute and Chronic Postoperative Pain Completed NCT01308385
19 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
20 SPAIN Chest Wall Deformity Project (Pectus Repair) Completed NCT02098681
21 Functional Capacity of Exercise and Lung Function in Patients Submitted Early Rehabilitation Completed NCT02441452 Not Applicable
22 Dynamic Compression Brace for Pectus Carinatum Completed NCT03559244 Not Applicable
23 Chest Wall Motion Analysis in Disease Completed NCT02958683
24 Autonomic Dysfunction in Patients With Pectus Excavatum. Recruiting NCT03346876
25 Pain, Exercise and Psychological Well-being in Pectus Excavatum Recruiting NCT02337621
26 Cardiorespiratory Assessment and Quality of Life After Surgical Correction of Congenital Wall Malformations Recruiting NCT03770390 Not Applicable
27 Lung Ultrasound for the Postoperative Diagnosis of Pneumothorax in Children Recruiting NCT03073616
28 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
29 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186 Not Applicable
30 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program Via Tele-monitoring Recruiting NCT03100669
31 PG and PK of Oxycodone to Personalize Post-op Pain Management Following Surgery in Children Recruiting NCT03495388
32 Prospective Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Active, not recruiting NCT01863498 Not Applicable
33 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265 Not Applicable
34 Microbiome and Volatile Organic Compounds in Patients With CDH Active, not recruiting NCT03787160 Not Applicable
35 Preemptive Genotyping and Pain Management Active, not recruiting NCT01813695
36 Three-dimensional Optical Imaging Based Severity Measurements of Pectus Excavatum and Carinatum Not yet recruiting NCT03926078 Not Applicable
37 Does Acupressure Decrease Post-operative Nausea and Vomiting (PONV) After the Pectus Excavatum Correction (NUSS) Procedure? Terminated NCT00892216 Not Applicable
38 Hypnotherapy in Major Surgical Procedures Withdrawn NCT02376634 Not Applicable

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 30
Sources

Anatomical Context for Pectus Excavatum

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MalaCards organs/tissues related to Pectus Excavatum:

42
Heart, Testes, Bone, Eye, Cervix, Spleen, Lung
Sources

Publications for Pectus Excavatum

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Articles related to Pectus Excavatum:

(show top 50) (show all 1126)
# Title Authors Year
1
Constrictive pericarditis with a life-threatening giant pericardial cyst and pectus excavatum as unusual cause for malign cardiac arrhythmias. ( 30755083 )
2019
2
Tucked in or tuckered out? Pectus excavatum and sleep. ( 30446281 )
2019
3
Non-Radiographic Severity Measurement of Pectus Excavatum. ( 30502274 )
2019
4
Acquired scoliosis following Nuss procedure for pectus excavatum: A case report. ( 30608404 )
2019
5
Changes in chest wall motion with removal of Nuss bar in repaired pectus excavatum - a cohort study. ( 30621729 )
2019
6
Ultrasound-Guided Serratus Anterior Plane Block for Pain Management Following Minimally Invasive Repair of Pectus Excavatum. ( 31097336 )
2019
7
Is Pectus Excavatum a Risk Factor for Spontaneous Pneumothorax? "Haller Index Measurements in Patients with Primary Spontaneous Pneumothorax". ( 31065300 )
2019
8
Pectus excavatum repair using bridge fixation system. ( 31003586 )
2019
9
Use of a Capture-Guidance Surgical Instrument to Minimize Muscle Stripping During Nuss Repair of Pectus Excavatum. ( 30946004 )
2019
10
Impact of pectus excavatum on cardiac morphology and function according to the site of maximum compression: effect of physical exertion and respiratory cycle. ( 30938414 )
2019
11
Opioid use and length of stay following minimally invasive pectus excavatum repair in 436 patients - Benefits of an enhanced recovery pathway. ( 30922685 )
2019
12
Is vacuum bell therapy effective in the correction of pectus excavatum? ( 30919892 )
2019
13
Bone-cartilage proportion in deformed ribs of male pectus excavatum patients. ( 30889996 )
2019
14
Improved Dynamics of Thoracic Cage and Exercise Capacity after Nuss Repair for Pectus Excavatum. ( 30861534 )
2019
15
Behavioural disorders in children with pectus excavatum in China: a retrospective cohort study with propensity score matching and risk prediction model. ( 30824916 )
2019
16
The Outcome of the Single Step Questionnaire in Pectus Excavatum Patients is Phase Dependent. ( 30822812 )
2019
17
Back to the future: a case series of minimally invasive repair of pectus excavatum with regular instruments. ( 30758428 )
2019
18
Characteristics of mitral valve leaflet length in patients with pectus excavatum: A single center cross-sectional study. ( 30742685 )
2019
19
Measuring the impact of surgical intervention on pediatric pectus excavatum using white light scanning. ( 30732932 )
2019
20
The use of nonthoracoscopic Nuss procedure for the correction of pectus excavatum by trans-esophageal echocardiography monitoring. ( 30732178 )
2019
21
Against the Overgrowth Hypothesis: Shorter Costal Cartilage Lengths in Pectus Excavatum. ( 30691856 )
2019
22
Bilateral ultrasound-guided erector spinae plane block for postoperative pain management in surgical repair of pectus excavatum via Ravitch technique. ( 30684919 )
2019
23
The Nuss procedure for pectus excavatum during atrial septal defect closure through a minimal right oblique infra-axillary thoracotomy: A case report. ( 30653093 )
2019
24
Is pectus excavatum a risk factor for radiation-induced lung disease in patients undergoing radiation therapy following breast-conserving surgery? ( 30561105 )
2019
25
A novel technique to measure severity of pediatric pectus excavatum using white light scanning. ( 29754877 )
2019
26
Letter to the Editor: Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29882100 )
2019
27
Author's Reply: Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 30155639 )
2019
28
Poorer sleep quality among adult patients with pectus excavatum in Taiwan: A pilot study. ( 30195589 )
2019
29
Pain Management in Pectus Excavatum Surgery: A Comparison of Subcutaneous Catheters Versus Epidurals in a Pediatric Population. ( 30256160 )
2019
30
Standardized Haller and Asymmetry Index Combined for a More Accurate Assessment of Pectus Excavatum. ( 30278167 )
2019
31
Bilateral Lung Transplantation and Simultaneous Pectus Excavatum Correction Using the Nuss Technique. ( 30326236 )
2019
32
Evaluation of pectus excavatum indexes during standard cardiac magnetic resonance: Potential for single preoperative tool. ( 30340077 )
2019
33
Perioperative Management and In-Hospital Outcomes After Minimally Invasive Repair of Pectus Excavatum: A Multicenter Registry Report From the Society for Pediatric Anesthesia Improvement Network. ( 30346358 )
2019
34
Early cost-utility estimation of the surgical correction of pectus excavatum with the Nuss bar. ( 30380039 )
2019
35
An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum. ( 30383585 )
2019
36
An Open, Prospective Study to Evaluate the Effectiveness and Safety of Hyaluronic Acid for Pectus Excavatum Treatment. ( 30388191 )
2019
37
Vacuum bell treatment of pectus excavatum: An early North American experience. ( 30414687 )
2019
38
Assessment of children with pectus excavatum without surgical correction. ( 30421282 )
2019
39
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. ( 30686518 )
2018
40
Paroxysmal Atrial Fibrillation in Patients Successfully Treated by Radiofrequency Catheter Ablation with Severely Compression, Lateral Displacement, and Clockwise Rotation of Their Hearts due to Severe Pectus Excavatum. ( 29984756 )
2018
41
Sudden Cardiac Arrest in a Young Patient With Severe Pectus Excavatum. ( 30177261 )
2018
42
Different Nuss procedures and risk management for pectus excavatum after surgery for congenital heart disease. ( 29716732 )
2018
43
Elastic stable chest repair and its hybrid variants in 86 patients with pectus excavatum. ( 30505481 )
2018
44
Simultaneous operative repair of pectus excavatum and concurrent congenital heart defects. ( 30541025 )
2018
45
Sports activity in adolescents in the Netherlands with a pectus excavatum; the impact of surgery. ( 30563704 )
2018
46
Incremental value of three-dimensional transthoracic echocardiography over the two-dimensional modality in the assessment of right heart compression and dysfunction produced by pectus excavatum. ( 30592784 )
2018
47
Continuous Erector Spinae Plane Blocks for Adult Pectus Excavatum Repair. ( 30597141 )
2018
48
Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children. ( 28759900 )
2018
49
The effect of thoracoscopy upon the repair of pectus excavatum. ( 28827049 )
2018
50
Differences in myocardial strain between pectus excavatum patients and healthy subjects assessed by cardiac MRI: a pilot study. ( 28894923 )
2018
Sources

Variations for Pectus Excavatum

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ClinVar genetic disease variations for Pectus Excavatum:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
2 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
3 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
4 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
5 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
6 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
7 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
8 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
9 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
10 46;XX;t(8;14)(q21.2;q12)dn Translocation Likely pathogenic
11 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
12 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
13 ERCC5 NM_000123.3(ERCC5): c.2929_2930del (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh37 Chromosome 13, 103525658: 103525659
14 ERCC5 NM_000123.3(ERCC5): c.2929_2930del (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh38 Chromosome 13, 102873308: 102873309
15 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
16 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
17 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
18 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
19 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 GRCh37 Chromosome X, 53410167: 53410167
20 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 GRCh38 Chromosome X, 53383246: 53383246
21 TCF20 NM_005650.3(TCF20): c.3605dup (p.Pro1203Serfs) duplication Pathogenic GRCh37 Chromosome 22, 42607707: 42607707
22 TCF20 NM_005650.3(TCF20): c.3605dup (p.Pro1203Serfs) duplication Pathogenic GRCh38 Chromosome 22, 42211701: 42211701
23 DNAJC21 NM_194283.3(DNAJC21): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 34937536: 34937536
24 DNAJC21 NM_194283.3(DNAJC21): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 34937431: 34937431
25 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh37 Chromosome X, 135122216: 135122232
26 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh38 Chromosome X, 136040057: 136040073
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
miRNAs involved in DNA damage response 1
10.85 ABL1 TP53
2
Inhibition of Ribosome Biogenesis by p14(ARF) 65
10.3 ABL1 TP53
3
TP53 Network 1
Show member pathways
 9.97 ABL1 TP53
Sources

GO Terms for Pectus Excavatum

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Cellular components related to Pectus Excavatum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.8 ABL1 TCF20 TP53

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of release of cytochrome c from mitochondria GO:0090200 8.96 TP53 WDR35
2 ER overload response GO:0006983 8.62 TMCO1 TP53
Sources

Sources for Pectus Excavatum

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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