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MCID: PCT003
MIFTS: 50

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 idiopathic scoliosis. An important gene associated with Pectus Excavatum is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Retinoblastoma (RB) in Cancer and ATM Pathway. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and breast, and related phenotypes are pectus excavatum and Decreased CDKN1A mRNA expression

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 127)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 32.1 FBN1 PIEZO2
2 idiopathic scoliosis 30.5 ACAN ADGRG6 FBN1
3 scoliosis 30.3 ACAN ADGRG6 DMD FBN1 FGFR3 PIEZO2
4 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.6
5 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.4
6 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.4
7 pectus carinatum 11.6
8 osteofibrous dysplasia 11.5
9 zori stalker williams syndrome 11.4
10 spondylometaepiphyseal dysplasia, short limb-hand type 11.4
11 congenital heart defects and skeletal malformations syndrome 11.4
12 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.4
13 long-thumb brachydactyly syndrome 11.2
14 arterial tortuosity syndrome 11.2
15 camptodactyly syndrome, guadalajara, type ii 11.2
16 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.2
17 cranioectodermal dysplasia 1 11.2
18 mcdonough syndrome 11.2
19 orofaciodigital syndrome iii 11.2
20 insulin-like growth factor i 11.2
21 brooks-wisniewski-brown syndrome 11.2
22 emery-dreifuss muscular dystrophy 1, x-linked 11.2
23 camptodactyly, tall stature, and hearing loss syndrome 11.2
24 legius syndrome 11.2
25 cranioectodermal dysplasia 2 11.2
26 choanal atresia and lymphedema 11.2
27 catel-manzke syndrome 11.2
28 ruijs-aalfs syndrome 11.2
29 noonan syndrome with multiple lentigines 11.2
30 acropectorovertebral dysplasia f form 11.2
31 chromosome 17q11.2 deletion syndrome 11.2
32 kaplan plauchu fitch syndrome 11.2
33 ring chromosome 12 11.2
34 trisomy 3 mosaicism 11.2
35 marfan syndrome 10.6
36 heart disease 10.6
37 breast cancer 10.4
38 thoracic outlet syndrome 10.4
39 orthostatic intolerance 10.4
40 pain agnosia 10.4
41 atrial fibrillation 10.4
42 cardiac tamponade 10.4
43 rere-related disorders 10.4
44 laryngomalacia 10.3
45 tetralogy of fallot 10.3
46 pseudoarthrosis 10.3
47 depression 10.3
48 syncope 10.3
49 scoliosis, isolated 1 10.2
50 tracheoesophageal fistula with or without esophageal atresia 10.2

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

GenomeRNAi Phenotypes related to Pectus Excavatum according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CDKN1A mRNA expression GR00389-S-1 8.8 TP53
2 Decreased CDKN1A mRNA expression GR00389-S-2 8.8 SMC1A TP53

MGI Mouse Phenotypes related to Pectus Excavatum:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
2 homeostasis/metabolism MP:0005376 10.21 ABL1 ADGRG6 DDR2 DMD ERCC5 EYA1
3 mortality/aging MP:0010768 10.21 ABL1 ADGRG6 DDR2 DMD DNAJC21 ERCC5
4 growth/size/body region MP:0005378 10.2 ABL1 ADGRG6 DDR2 DMD ERCC5 EYA1
5 craniofacial MP:0005382 10.1 ABL1 DDR2 EYA1 FBN1 FGFR3 PTPN14
6 digestive/alimentary MP:0005381 10.02 ABL1 DMD ERCC5 EYA1 FGFR3 TP53
7 nervous system MP:0003631 9.96 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
8 muscle MP:0005369 9.92 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
9 limbs/digits/tail MP:0005371 9.88 DDR2 DMD FBN1 FGFR3 TP53 WDR35
10 respiratory system MP:0005388 9.7 ABL1 DMD EYA1 FBN1 FGFR3 TP53
11 skeleton MP:0005390 9.65 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
12 vision/eye MP:0005391 9.17 ABL1 DDR2 DMD EYA1 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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
2
tannic acid Approved Phase 4 1401-55-4
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Desflurane Approved Phase 4 57041-67-5 42113
5
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
6
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
7
Hydromorphone Approved, Illicit Phase 4,Not Applicable 466-99-9 5284570
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 Central Nervous System Depressants Phase 4,Not Applicable
11 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
12 Platelet Aggregation Inhibitors Phase 4
13 Anesthetics, General Phase 4
14 Anesthetics, Inhalation Phase 4
15 Peripheral Nervous System Agents Phase 4,Not Applicable
16 Analgesics Phase 4,Not Applicable
17 Analgesics, Opioid Phase 4
18 Anesthetics, Local Phase 4,Not Applicable
19 Anesthetics, Intravenous Phase 4
20 Narcotics Phase 4,Not Applicable
21 Adjuvants, Anesthesia Phase 4
22 Tea Phase 4
23
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
24
Clonidine Approved Not Applicable 4205-90-7 2803
25
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
26 Antiemetics Not Applicable

Interventional clinical trials:

(show all 37)
# 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 Functional Capacity of Exercise and Lung Function in Patients Submitted Early Rehabilitation Completed NCT02441452 Not Applicable
21 Dynamic Compression Brace for Pectus Carinatum Completed NCT03559244 Not Applicable
22 Chest Wall Motion Analysis in Disease Completed NCT02958683
23 Autonomic Dysfunction in Patients With Pectus Excavatum. Recruiting NCT03346876
24 Pain, Exercise and Psychological Well-being in Pectus Excavatum Recruiting NCT02337621
25 Cardiorespiratory Assessment and Quality of Life After Surgical Correction of Congenital Wall Malformations Recruiting NCT03770390 Not Applicable
26 Lung Ultrasound for the Postoperative Diagnosis of Pneumothorax in Children Recruiting NCT03073616
27 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
28 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186 Not Applicable
29 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program Via Tele-monitoring Recruiting NCT03100669
30 PG and PK of Oxycodone to Personalize Post-op Pain Management Following Surgery in Children Recruiting NCT03495388
31 Prospective Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Active, not recruiting NCT01863498 Not Applicable
32 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265 Not Applicable
33 SPAIN Chest Wall Deformity Project (Pectus Repair) Active, not recruiting NCT02098681
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 Does Acupressure Decrease Post-operative Nausea and Vomiting (PONV) After the Pectus Excavatum Correction (NUSS) Procedure? Terminated NCT00892216 Not Applicable
37 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, Lung, Breast, Liver, Bone, Testes, Eye
Sources

Publications for Pectus Excavatum

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Articles related to Pectus Excavatum:

(show top 50) (show all 1117)
# 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
Is pectus excavatum a risk factor for radiation-induced lung disease in patients undergoing radiation therapy following breast-conserving surgery? ( 30561105 )
2019
3
Acquired scoliosis following Nuss procedure for pectus excavatum: A case report. ( 30608404 )
2019
4
Changes in chest wall motion with removal of Nuss bar in repaired pectus excavatum - a cohort study. ( 30621729 )
2019
5
The Nuss procedure for pectus excavatum during atrial septal defect closure through a minimal right oblique infra-axillary thoracotomy: A case report. ( 30653093 )
2019
6
Bilateral ultrasound-guided erector spinae plane block for postoperative pain management in surgical repair of pectus excavatum via Ravitch technique. ( 30684919 )
2019
7
Against the Overgrowth Hypothesis: Shorter Costal Cartilage Lengths in Pectus Excavatum. ( 30691856 )
2019
8
The use of nonthoracoscopic Nuss procedure for the correction of pectus excavatum by trans-esophageal echocardiography monitoring. ( 30732178 )
2019
9
Measuring the impact of surgical intervention on pediatric pectus excavatum using white light scanning. ( 30732932 )
2019
10
Characteristics of mitral valve leaflet length in patients with pectus excavatum: A single center cross-sectional study. ( 30742685 )
2019
11
Back to the future: a case series of minimally invasive repair of pectus excavatum with regular instruments. ( 30758428 )
2019
12
The Outcome of the Single Step Questionnaire in Pectus Excavatum Patients is Phase Dependent. ( 30822812 )
2019
13
Behavioural disorders in children with pectus excavatum in China: a retrospective cohort study with propensity score matching and risk prediction model. ( 30824916 )
2019
14
Improved Dynamics of Thoracic Cage and Exercise Capacity after Nuss Repair for Pectus Excavatum. ( 30861534 )
2019
15
Bone-cartilage proportion in deformed ribs of male pectus excavatum patients. ( 30889996 )
2019
16
Poorer sleep quality among adult patients with pectus excavatum in Taiwan: A pilot study. ( 30195589 )
2019
17
Evaluation of pectus excavatum indexes during standard cardiac magnetic resonance: Potential for single preoperative tool. ( 30340077 )
2019
18
Vacuum bell treatment of pectus excavatum: An early North American experience. ( 30414687 )
2019
19
Tucked in or tuckered out? Pectus excavatum and sleep. ( 30446281 )
2019
20
Non-Radiographic Severity Measurement of Pectus Excavatum. ( 30502274 )
2019
21
Simultaneous repair of congenital heart defects and pectus excavatum in young children. ( 29302749 )
2018
22
Different Nuss procedures and risk management for pectus excavatum after surgery for congenital heart disease. ( 29716732 )
2018
23
Nonoperative management of pectus excavatum with vacuum bell therapy: A single center study. ( 29606411 )
2018
24
Surgical Outcomes of Double Compression And Complete Fixation Bar System in Pectus Excavatum. ( 29890147 )
2018
25
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. ( 29866441 )
2018
26
A novel technique to measure severity of pediatric pectus excavatum using white light scanning. ( 29754877 )
2018
27
Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29411068 )
2018
28
Video-assisted-thoracoscopic surgery in left-to-right Nuss procedure for pectus excavatum for prevention of serious complications - technical aspects based on 1006 patients. ( 29643965 )
2018
29
Outcomes Using Cryoablation for Postoperative Pain Control in Children Following Minimally Invasive Pectus Excavatum Repair. ( 29927703 )
2018
30
Cryoanalgesia in Patients Undergoing Nuss Repair of Pectus Excavatum: Technique Modification and Early Results. ( 29672193 )
2018
31
Letter to the Editor concerning: "Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation". ( 29644454 )
2018
32
Minimally invasive repair of pectus excavatum: Analysis of the NSQIP database and the use of thoracoscopy. ( 29602550 )
2018
33
Relationship between cardiac MR compression classification and CT chest wall indexes in patients with pectus excavatum. ( 29907314 )
2018
34
Outcomes in adult pectus excavatum patients undergoing Nuss repair. ( 29430201 )
2018
35
Initial experience with a 3D printed model for preoperative simulation of the Nuss procedure for pectus excavatum. ( 29607200 )
2018
36
Use of sternal plate for pectus excavatum repair in adults leads to minimal postoperative pain. ( 29942462 )
2018
37
Pectus excavatum: a rare cause of gastric subepithelial lesion. ( 29050466 )
2018
38
Letter to the Editor: Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29882100 )
2018
39
Effects of Pectus Excavatum Repair on Right and Left Ventricular Strain. ( 29162223 )
2018
40
Left Thoracotomy for Redo Mitral Valve Replacement in Giant Left Atrium and Severe Pectus Excavatum. ( 29654724 )
2018
41
Ropivacaine has no advantage over bupivacaine in thoracic epidural analgesia for patients with pectus excavatum undergoing the Nuss procedure - a single blind randomized clinical trial comparing efficacy and safety. ( 29681955 )
2018
42
eComment. Narrative therapy for decision making about pectus excavatum treatment: Concepts clarification and basic claims demonstration challenge. ( 29361171 )
2018
43
Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation. ( 29052000 )
2018
44
Repetitive Imaging following Minimally Invasive Repair of Pectus Excavatum Is Unnecessary. ( 29920634 )
2018
45
Impact of Pectus Excavatum on Cardiopulmonary Function. ( 29248153 )
2018
46
Revision of Failed Prior Nuss in Adult Patients With Pectus Excavatum. ( 29198628 )
2018
47
Finite-element analysis aided design of customized Nuss bar in pectus excavatum surgery (Reply). ( 29660357 )
2018
48
Are Foley catheters needed after minimally invasive repair of pectus excavatum? ( 29397201 )
2018
49
Pectus excavatum causing dynamic right ventricular outflow tract obstruction: increased obstruction during expiration and decreased during inspiration. ( 29617978 )
2018
50
Correlation between clinical severity and type and degree of pectus excavatum in twelve brachycephalic dogs. ( 29593167 )
2018
Sources

Variations for Pectus Excavatum

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ClinVar genetic disease variations for Pectus Excavatum:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
2 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
3 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
4 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
5 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
6 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
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_2930delCT (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh37 Chromosome 13, 103525658: 103525659
14 ERCC5 NM_000123.3(ERCC5): c.2929_2930delCT (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 Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
18 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant 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 DNAJC21 NM_194283.3(DNAJC21): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 34937536: 34937536
22 DNAJC21 NM_194283.3(DNAJC21): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 34937431: 34937431
23 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh38 Chromosome X, 136040057: 136040073
24 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh37 Chromosome X, 135122216: 135122232
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
Retinoblastoma (RB) in Cancer 1
11.28 ABL1 SMC1A TP53
2
ATM Pathway 65
Show member pathways
 11.07 ABL1 SMC1A TP53
3
Inhibition of Ribosome Biogenesis by p14(ARF) 65
10.66 ABL1 TP53
4
Endochondral Ossification 1
10.61 ACAN DDR2 FGFR3
5
TP53 Network 1
Show member pathways
 10.6 ABL1 TP53
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 cellular response to DNA damage stimulus GO:0006974 9.72 ABL1 ERCC5 EYA1 SMC1A TP53
2 DNA repair GO:0006281 9.55 ABL1 BIVM-ERCC5 ERCC5 EYA1 SMC1A
3 proteoglycan biosynthetic process GO:0030166 9.43 ACAN GAL3ST4
4 chondrocyte proliferation GO:0035988 9.4 DDR2 FGFR3
5 ER overload response GO:0006983 9.37 TMCO1 TP53
6 endochondral bone growth GO:0003416 9.26 DDR2 FGFR3
7 nucleotide-excision repair GO:0006289 9.13 BIVM-ERCC5 ERCC5 TP53
8 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 8.62 BIVM-ERCC5 ERCC5

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

# Name GO ID Score Top Affiliating Genes
1 endodeoxyribonuclease activity GO:0004520 8.96 BIVM-ERCC5 ERCC5
2 protein-containing complex binding GO:0044877 8.8 DMD ERCC5 FBN1
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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