Aliases & Classifications for Pectus Excavatum

MalaCards integrated aliases for Pectus Excavatum:

Name: Pectus Excavatum 57 29 6
Congenital Pectus Excavatum 73
Funnel Chest 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
pectus excavatum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 169300
MedGen 42 C0016842
ICD10 33 Q67.6
SNOMED-CT via HPO 69 263681008 391987005
UMLS 73 C0016842

Summaries for Pectus Excavatum

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 Degradation of the extracellular matrix and Tyrosine Kinases / Adaptors. The drugs Benzocaine and Desflurane have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are pectus excavatum and cellular

Wikipedia : 76 Pectus excavatum is a congenital deformity of the anterior thoracic wall in which the sternum and rib... more...

Description from OMIM: 169300

Related Diseases for Pectus Excavatum

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 31.9 FBN1 PIEZO2
2 scoliosis 29.9 ACAN ADGRG6 FBN1 FGFR3
3 idiopathic scoliosis 29.7 ACAN ADGRG6 FBN1
4 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.5
5 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.2
6 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.2
7 pectus carinatum 11.5
8 osteofibrous dysplasia 11.4
9 zori stalker williams syndrome 11.2
10 orofaciodigital syndrome iii 11.2
11 congenital heart defects and skeletal malformations syndrome 11.2
12 long-thumb brachydactyly syndrome 11.0
13 noonan syndrome 1 11.0
14 arterial tortuosity syndrome 11.0
15 elsahy-waters syndrome 11.0
16 camptodactyly syndrome, guadalajara, type ii 11.0
17 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.0
18 cranioectodermal dysplasia 1 11.0
19 insulin-like growth factor i 11.0
20 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
21 brooks-wisniewski-brown syndrome 11.0
22 emery-dreifuss muscular dystrophy 1, x-linked 11.0
23 camptodactyly, tall stature, and hearing loss syndrome 11.0
24 legius syndrome 11.0
25 cranioectodermal dysplasia 2 11.0
26 choanal atresia and lymphedema 11.0
27 catel-manzke syndrome 11.0
28 ruijs-aalfs syndrome 11.0
29 noonan syndrome with multiple lentigines 11.0
30 acropectorovertebral dysplasia f form 11.0
31 chromosome 17q11.2 deletion syndrome 11.0
32 kaplan plauchu fitch syndrome 11.0
33 marfan syndrome 10.3
34 heart disease 10.3
35 laryngomalacia 10.2
36 thoracic outlet syndrome 10.2
37 aging 10.1
38 hemopericardium 10.1
39 cardiac tamponade 10.1
40 sternal cleft 10.1
41 adenosquamous cell lung carcinoma 10.0 DDR2 FGFR3
42 marfanoid hypermobility syndrome 10.0
43 facioscapulohumeral muscular dystrophy 1 10.0
44 poland syndrome 10.0
45 tetralogy of fallot 10.0
46 tracheoesophageal fistula with or without esophageal atresia 10.0
47 pulmonary alveolar microlithiasis 10.0
48 paine syndrome 10.0
49 polydactyly 10.0
50 orthostatic intolerance 10.0

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



Diseases related to Pectus Excavatum

Symptoms & Phenotypes for Pectus Excavatum

Symptoms via clinical synopsis from OMIM:

57
Thorax:
pectus excavatum


Clinical features from OMIM:

169300

Human phenotypes related to Pectus Excavatum:

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

MGI Mouse Phenotypes related to Pectus Excavatum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
2 homeostasis/metabolism MP:0005376 10.11 ABL1 ADGRG6 DDR2 DMD ERCC5 EYA1
3 growth/size/body region MP:0005378 10.1 ABL1 ADGRG6 DDR2 DMD ERCC5 EYA1
4 mortality/aging MP:0010768 10.1 WDR35 ABL1 ADGRG6 DDR2 DMD ERCC5
5 craniofacial MP:0005382 10 ABL1 DDR2 EYA1 FBN1 FGFR3 PTPN14
6 digestive/alimentary MP:0005381 9.91 ABL1 DMD ERCC5 EYA1 FGFR3 WDR35
7 nervous system MP:0003631 9.81 EYA1 FBN1 FGFR3 PIEZO2 TMCO1 ABL1
8 muscle MP:0005369 9.8 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
9 respiratory system MP:0005388 9.43 ABL1 DMD EYA1 FBN1 FGFR3 WDR35
10 skeleton MP:0005390 9.28 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1

Drugs & Therapeutics for Pectus Excavatum

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
Desflurane Approved Phase 4 57041-67-5 42113
3
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Hydromorphone Approved, Illicit Phase 4,Not Applicable 466-99-9 5284570
6
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
7
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
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 tannic acid Approved, Nutraceutical Phase 4
11 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
12 Anesthetics, General Phase 4
13 Anesthetics, Inhalation Phase 4
14 Central Nervous System Depressants Phase 4,Not Applicable
15 Platelet Aggregation Inhibitors Phase 4
16 Peripheral Nervous System Agents Phase 4,Not Applicable
17 Analgesics Phase 4,Not Applicable
18 Anesthetics, Local Phase 4,Not Applicable
19 Narcotics Phase 4,Not Applicable
20 Analgesics, Opioid Phase 4
21 Adjuvants, Anesthesia Phase 4
22 Anesthetics, Intravenous Phase 4
23 Tea Nutraceutical Phase 4
24
Clonidine Approved Not Applicable 4205-90-7 2803
25
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
26
Menthol Approved Not Applicable 2216-51-5 16666
27 Antiemetics Not Applicable

Interventional clinical trials:

(show all 35)
# 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 Sub-Paraspinal Block in Nuss Patients. A Pilot Project Completed NCT02169297 Phase 4
4 A Comparison Trial Between PCA and Epidural Analgesia for Pectus Excavatum Repair Recruiting NCT02056301 Phase 4 Hydromorphone;Morphine
5 Cryoanalgesia vs. Epidural in the Nuss Procedure Recruiting NCT02721017 Phase 4 Thoracic epidural (ropivicaine, fentanyl)
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 Prediction of Acute Postoperative Pain and Analgesic Consumption Unknown status NCT02230865
10 Non-invasive Negative Pressure Treatment for Pectus Excavatum Completed NCT01816373 Not Applicable
11 Clustering Among the Clinical Profiles of Patients With Pectus Excavatum Completed NCT03086499
12 Hemodynamic Repercussions of the Correction (Surgical and Non Surgical) of Pectus Excavatum-type Thoracic Deformities Completed NCT02174796 Not Applicable
13 Treatment of Pectus Excavatum Deformity Using Macrolane Filler Completed NCT01750112 Not Applicable
14 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%)
15 Pain Management for Pectus Excavatum Repair Completed NCT00413582 Not Applicable Epidural Analgesia;Patient-Controlled IV Analgesia
16 Prediction and Characterization of Acute and Chronic Postoperative Pain Completed NCT01308385
17 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
18 Functional Capacity of Exercise and Lung Function in Patients Submitted Early Rehabilitation Completed NCT02441452 Not Applicable
19 Autonomic Dysfunction in Patients With Pectus Excavatum. Recruiting NCT03346876
20 Pain, Exercise and Psychological Well-being in Pectus Excavatum Recruiting NCT02337621
21 Prospective Trial: Pain Management After Pectus Excavatum Repair, Epidural Versus PCA Recruiting NCT01863498 Not Applicable
22 Lung Ultrasound for the Postoperative Diagnosis of Pneumothorax in Children Recruiting NCT03073616
23 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
24 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186 Not Applicable
25 Evaluation of a New Model of Metallic Bar and Stabilizer for Use in MIRPE Recruiting NCT03087734 Not Applicable
26 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program Via Tele-monitoring Recruiting NCT03100669
27 Dynamic Compression Brace for Pectus Carinatum Recruiting NCT03559244 Not Applicable
28 Chest Wall Motion Analysis in Disease Recruiting NCT02958683
29 Multicenter Trial of Magnetic Mini-Mover for Pectus Excavatum Active, not recruiting NCT01327274 Not Applicable
30 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265 Not Applicable
31 SPAIN Chest Wall Deformity Project (Pectus Repair) Active, not recruiting NCT02098681
32 Preemptive Genotyping and Pain Management Active, not recruiting NCT01813695
33 PG and PK of Oxycodone to Personalize Post-op Pain Management Following Surgery in Children Not yet recruiting NCT03495388
34 Does Acupressure Decrease Post-operative Nausea and Vomiting (PONV) After the Pectus Excavatum Correction (NUSS) Procedure? Terminated NCT00892216 Not Applicable
35 Hypnotherapy in Major Surgical Procedures Withdrawn NCT02376634 Not Applicable

Search NIH Clinical Center for Pectus Excavatum

Genetic Tests for Pectus Excavatum

Genetic tests related to Pectus Excavatum:

# Genetic test Affiliating Genes
1 Pectus Excavatum 29

Anatomical Context for Pectus Excavatum

MalaCards organs/tissues related to Pectus Excavatum:

41
Heart, Lung, Testes

Publications for Pectus Excavatum

Articles related to Pectus Excavatum:

(show top 50) (show all 170)
# Title Authors Year
1
Simultaneous repair of congenital heart defects and pectus excavatum in young children. ( 29302749 )
2018
2
Different Nuss procedures and risk management for pectus excavatum after surgery for congenital heart disease. ( 29716732 )
2018
3
Nonoperative management of pectus excavatum with vacuum bell therapy: A single center study. ( 29606411 )
2018
4
Surgical Outcomes of Double Compression And Complete Fixation Bar System in Pectus Excavatum. ( 29890147 )
2018
5
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. ( 29866441 )
2018
6
A novel technique to measure severity of pediatric pectus excavatum using white light scanning. ( 29754877 )
2018
7
Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29411068 )
2018
8
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
9
Outcomes Using Cryoablation for Postoperative Pain Control in Children Following Minimally Invasive Pectus Excavatum Repair. ( 29927703 )
2018
10
Cryoanalgesia in Patients Undergoing Nuss Repair of Pectus Excavatum: Technique Modification and Early Results. ( 29672193 )
2018
11
Letter to the Editor concerning: "Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation". ( 29644454 )
2018
12
Minimally invasive repair of pectus excavatum: Analysis of the NSQIP database and the use of thoracoscopy. ( 29602550 )
2018
13
Relationship between cardiac MR compression classification and CT chest wall indexes in patients with pectus excavatum. ( 29907314 )
2018
14
Outcomes in adult pectus excavatum patients undergoing Nuss repair. ( 29430201 )
2018
15
Initial experience with a 3D printed model for preoperative simulation of the Nuss procedure for pectus excavatum. ( 29607200 )
2018
16
Use of sternal plate for pectus excavatum repair in adults leads to minimal postoperative pain. ( 29942462 )
2018
17
Pectus excavatum: a rare cause of gastric subepithelial lesion. ( 29050466 )
2018
18
Letter to the Editor: Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29882100 )
2018
19
Effects of Pectus Excavatum Repair on Right and Left Ventricular Strain. ( 29162223 )
2018
20
Left Thoracotomy for Redo Mitral Valve Replacement in Giant Left Atrium and Severe Pectus Excavatum. ( 29654724 )
2018
21
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
22
eComment. Narrative therapy for decision making about pectus excavatum treatment: Concepts clarification and basic claims demonstration challenge. ( 29361171 )
2018
23
Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation. ( 29052000 )
2018
24
Repetitive Imaging following Minimally Invasive Repair of Pectus Excavatum Is Unnecessary. ( 29920634 )
2018
25
Impact of Pectus Excavatum on Cardiopulmonary Function. ( 29248153 )
2018
26
Revision of Failed Prior Nuss in Adult Patients With Pectus Excavatum. ( 29198628 )
2018
27
Finite-element analysis aided design of customized Nuss bar in pectus excavatum surgery (Reply). ( 29660357 )
2018
28
Are Foley catheters needed after minimally invasive repair of pectus excavatum? ( 29397201 )
2018
29
Pectus excavatum causing dynamic right ventricular outflow tract obstruction: increased obstruction during expiration and decreased during inspiration. ( 29617978 )
2018
30
Correlation between clinical severity and type and degree of pectus excavatum in twelve brachycephalic dogs. ( 29593167 )
2018
31
The effect of thoracoscopy upon the repair of pectus excavatum. ( 28827049 )
2017
32
Pectus excavatum repair after sternotomy: the Chest Wall International Group experience with substernal Nuss bars. ( 29156016 )
2017
33
Effects of Nuss procedure on thoracic scoliosis in patients with pectus excavatum. ( 29268389 )
2017
34
Alternatives to Titanium Implants for Pectus Excavatum Repair. ( 29153792 )
2017
35
Occult RV systolic dysfunction detected by CMR derived RV circumferential strain in patients with pectus excavatum. ( 29228013 )
2017
36
Positional Right Ventricular Obstruction in Pectus Excavatum. ( 28214505 )
2017
37
Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )
2017
38
[Benefits of magnetic resonance for the study of pectus excavatum in children: initial experience]. ( 28857528 )
2017
39
Uniportal Nuss procedure for pectus excavatum, where to place the camera?-but we've always done it this way. ( 29078605 )
2017
40
A new methodology for assessment of pectus excavatum correction after bar removal in Nuss procedure: Preliminary study. ( 28094014 )
2017
41
A retrospective comparison of thoracic epidural infusion and multimodal analgesia protocol for pain management following the minimally invasive repair of pectus excavatum. ( 29063665 )
2017
42
Effect on Chest Deformation of Simultaneous Correction of Pectus Excavatum with Scoliosis. ( 29138688 )
2017
43
Pectus excavatum: First ultrastructural findings of a potential ciliopathy. ( 28230518 )
2017
44
Hybrid repair of pectus excavatum and congenital heart disease: A case report. ( 29390594 )
2017
45
Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum. ( 28618768 )
2017
46
Effects of Pectus Excavatum on the Spine of Pectus Excavatum Patients with Scoliosis. ( 29065615 )
2017
47
Thoracic outlet syndrome after the Nuss procedure for pectus excavatum: Is it a rare complication? ( 28662867 )
2017
48
Ventricular arrhythmia solved by surgical correction of pectus excavatum. ( 29244154 )
2017
49
Scoliosis after pectus excavatum correction: does it improve or worsen? ( 28329150 )
2017
50
Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction. ( 26889443 )
2016

Variations for Pectus Excavatum

ClinVar genetic disease variations for Pectus Excavatum:

6
(show all 16)
# 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 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
4 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
5 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
6 46;XX;t(8;14)(q21.2;q12)dn Translocation Likely pathogenic
7 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
8 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
9 ERCC5 NM_000123.3(ERCC5): c.2929_2930delCT (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh37 Chromosome 13, 103525658: 103525659
10 ERCC5 NM_000123.3(ERCC5): c.2929_2930delCT (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh38 Chromosome 13, 102873308: 102873309
11 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
12 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
13 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
14 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
15 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 GRCh37 Chromosome X, 53410167: 53410167
16 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 GRCh38 Chromosome X, 53383246: 53383246

Expression for Pectus Excavatum

Search GEO for disease gene expression data for Pectus Excavatum.

Pathways for Pectus Excavatum

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 ACAN DDR2 DMD FBN1
2 11.3 ABL1 DDR2 FGFR3
3 10.61 ACAN DDR2 FGFR3

GO Terms for Pectus Excavatum

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 9.76 ABL1 ERCC5 EYA1 SMC1A
2 protein autophosphorylation GO:0046777 9.61 ABL1 DDR2 FGFR3
3 peptidyl-tyrosine phosphorylation GO:0018108 9.58 ABL1 DDR2 FGFR3
4 skeletal system development GO:0001501 9.54 ACAN FBN1 FGFR3
5 DNA repair GO:0006281 9.35 ABL1 BIVM-ERCC5 ERCC5 EYA1 SMC1A
6 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.32 BIVM-ERCC5 ERCC5
7 chondrocyte proliferation GO:0035988 9.26 DDR2 FGFR3
8 endochondral bone growth GO:0003416 9.16 DDR2 FGFR3
9 regulation of cellular response to growth factor stimulus GO:0090287 8.62 DMD FBN1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.13 ABL1 DDR2 FGFR3
2 endodeoxyribonuclease activity GO:0004520 8.62 BIVM-ERCC5 ERCC5

Sources for Pectus Excavatum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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