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 idiopathic 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, 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 118)
# Related Disease Score Top Affiliating Genes
1 marden-walker syndrome 31.9 PIEZO2 FBN1
2 idiopathic scoliosis 30.4 FBN1 ADGRG6 ACAN
3 scoliosis 30.3 PIEZO2 FGFR3 FBN1 DMD ADGRG6 ACAN
4 pectus excavatum, macrocephaly, short stature, and dysplastic nails 12.4
5 pierre robin sequence with pectus excavatum and rib and scapular anomalies 12.4
6 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 12.3
7 pectus carinatum 11.6
8 noonan syndrome 1 11.5
9 osteofibrous dysplasia 11.5
10 zori stalker williams syndrome 11.4
11 orofaciodigital syndrome iii 11.3
12 spondylometaepiphyseal dysplasia, short limb-hand type 11.3
13 congenital heart defects and skeletal malformations syndrome 11.3
14 long-thumb brachydactyly syndrome 11.2
15 arterial tortuosity syndrome 11.2
16 camptodactyly syndrome, guadalajara, type ii 11.2
17 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.2
18 cranioectodermal dysplasia 1 11.2
19 mcdonough syndrome 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 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 11.2
30 noonan syndrome with multiple lentigines 11.2
31 acropectorovertebral dysplasia f form 11.2
32 chromosome 17q11.2 deletion syndrome 11.2
33 kaplan plauchu fitch syndrome 11.2
34 ring chromosome 12 11.2
35 trisomy 3 mosaicism 11.2
36 marfan syndrome 10.6
37 heart disease 10.6
38 thoracic outlet syndrome 10.4
39 orthostatic intolerance 10.4
40 atrial fibrillation 10.4
41 cardiac tamponade 10.4
42 breast cancer 10.3
43 laryngomalacia 10.3
44 tetralogy of fallot 10.3
45 pseudoarthrosis 10.3
46 depression 10.3
47 syncope 10.3
48 scoliosis, isolated 1 10.2
49 ptosis 10.2
50 cardiac arrest 10.2

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 ABL1 ADGRG6 DDR2 DMD ERCC5 EYA1
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 ABL1 ADGRG6 DDR2 DMD EYA1 FBN1
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 tannic acid Approved Phase 4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Desflurane Approved Phase 4 57041-67-5 42113
5
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
6
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
7
Hydromorphone Approved, Illicit Phase 4,Not Applicable 466-99-9 5284570
8
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Not Applicable 437-38-7 3345
10
Morphine Approved, Investigational Phase 4 57-27-2 5288826
11 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
12 Central Nervous System Depressants Phase 4,Not Applicable
13 Anesthetics, Inhalation Phase 4
14 Anesthetics, General Phase 4
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 Analgesics, Opioid Phase 4
20 Adjuvants, Anesthesia Phase 4
21 Anesthetics, Intravenous Phase 4
22 Narcotics Phase 4,Not Applicable
23 Tea Phase 4
24
Clonidine Approved Not Applicable 4205-90-7 2803
25
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
26
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
27 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 Recruiting 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 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 Multicenter Trial of Magnetic Mini-Mover for Pectus Excavatum Completed NCT01327274 Not Applicable
12 Clustering Among the Clinical Profiles of Patients With Pectus Excavatum Completed NCT03086499
13 Hemodynamic Repercussions of the Correction (Surgical and Non Surgical) of Pectus Excavatum-type Thoracic Deformities Completed NCT02174796 Not Applicable
14 Treatment of Pectus Excavatum Deformity Using Macrolane Filler Completed NCT01750112 Not Applicable
15 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%)
16 Pain Management for Pectus Excavatum Repair Completed NCT00413582 Not Applicable Epidural Analgesia;Patient-Controlled IV Analgesia
17 Prediction and Characterization of Acute and Chronic Postoperative Pain Completed NCT01308385
18 Nuss Procedure: Clinical Options in Pediatric Pain Management? Completed NCT02009267
19 Functional Capacity of Exercise and Lung Function in Patients Submitted Early Rehabilitation Completed NCT02441452 Not Applicable
20 Dynamic Compression Brace for Pectus Carinatum Completed NCT03559244 Not Applicable
21 Autonomic Dysfunction in Patients With Pectus Excavatum. Recruiting NCT03346876
22 Pain, Exercise and Psychological Well-being in Pectus Excavatum Recruiting NCT02337621
23 Cardiorespiratory Assessment and Quality of Life After Surgical Correction of Congenital Wall Malformations Recruiting NCT03770390 Not Applicable
24 Lung Ultrasound for the Postoperative Diagnosis of Pneumothorax in Children Recruiting NCT03073616
25 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
26 Non-invasive Clinical Pectus Index as a Measurement of Severity in Pectus Recruiting NCT02552186 Not Applicable
27 Evaluation of a New Model of Metallic Bar and Stabilizer for Use in MIRPE Recruiting NCT03087734 Not Applicable
28 Implementing a Postoperative MIRP (Minimally Invasive Repair of Pectus) Program Via Tele-monitoring Recruiting NCT03100669
29 PG and PK of Oxycodone to Personalize Post-op Pain Management Following Surgery in Children Recruiting NCT03495388
30 Chest Wall Motion Analysis in Disease Recruiting NCT02958683
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 Preemptive Genotyping and Pain Management Active, not recruiting NCT01813695
35 Microbiome and Volatile Organic Compounds in Patients With CDH Not yet recruiting NCT03787160 Not Applicable
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

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, Liver, Testes, Bone, Eye, Spleen

Publications for Pectus Excavatum

Articles related to Pectus Excavatum:

(show top 50) (show all 1011)
# Title Authors Year
1
Evaluation of pectus excavatum indexes during standard cardiac magnetic resonance: Potential for single preoperative tool. ( 30340077 )
2019
2
Non-Radiographic Severity Measurement of Pectus Excavatum. ( 30502274 )
2019
3
Simultaneous repair of congenital heart defects and pectus excavatum in young children. ( 29302749 )
2018
4
Different Nuss procedures and risk management for pectus excavatum after surgery for congenital heart disease. ( 29716732 )
2018
5
Nonoperative management of pectus excavatum with vacuum bell therapy: A single center study. ( 29606411 )
2018
6
Surgical Outcomes of Double Compression And Complete Fixation Bar System in Pectus Excavatum. ( 29890147 )
2018
7
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. ( 29866441 )
2018
8
A novel technique to measure severity of pediatric pectus excavatum using white light scanning. ( 29754877 )
2018
9
Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29411068 )
2018
10
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
11
Outcomes Using Cryoablation for Postoperative Pain Control in Children Following Minimally Invasive Pectus Excavatum Repair. ( 29927703 )
2018
12
Cryoanalgesia in Patients Undergoing Nuss Repair of Pectus Excavatum: Technique Modification and Early Results. ( 29672193 )
2018
13
Letter to the Editor concerning: "Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation". ( 29644454 )
2018
14
Minimally invasive repair of pectus excavatum: Analysis of the NSQIP database and the use of thoracoscopy. ( 29602550 )
2018
15
Relationship between cardiac MR compression classification and CT chest wall indexes in patients with pectus excavatum. ( 29907314 )
2018
16
Outcomes in adult pectus excavatum patients undergoing Nuss repair. ( 29430201 )
2018
17
Initial experience with a 3D printed model for preoperative simulation of the Nuss procedure for pectus excavatum. ( 29607200 )
2018
18
Use of sternal plate for pectus excavatum repair in adults leads to minimal postoperative pain. ( 29942462 )
2018
19
Pectus excavatum: a rare cause of gastric subepithelial lesion. ( 29050466 )
2018
20
Letter to the Editor: Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life. ( 29882100 )
2018
21
Effects of Pectus Excavatum Repair on Right and Left Ventricular Strain. ( 29162223 )
2018
22
Left Thoracotomy for Redo Mitral Valve Replacement in Giant Left Atrium and Severe Pectus Excavatum. ( 29654724 )
2018
23
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
24
eComment. Narrative therapy for decision making about pectus excavatum treatment: Concepts clarification and basic claims demonstration challenge. ( 29361171 )
2018
25
Results of pectus excavatum correction using a minimally invasive approach with subxyphoid incision and three-point fixation. ( 29052000 )
2018
26
Repetitive Imaging following Minimally Invasive Repair of Pectus Excavatum Is Unnecessary. ( 29920634 )
2018
27
Impact of Pectus Excavatum on Cardiopulmonary Function. ( 29248153 )
2018
28
Revision of Failed Prior Nuss in Adult Patients With Pectus Excavatum. ( 29198628 )
2018
29
Finite-element analysis aided design of customized Nuss bar in pectus excavatum surgery (Reply). ( 29660357 )
2018
30
Are Foley catheters needed after minimally invasive repair of pectus excavatum? ( 29397201 )
2018
31
Sudden Cardiac Arrest in a Young Patient With Severe Pectus Excavatum. ( 30177261 )
2018
32
Monitoring the effectiveness of the vacuum bell during pectus excavatum treatment: Technical innovation. ( 28602524 )
2018
33
Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children. ( 28759900 )
2018
34
Differences in myocardial strain between pectus excavatum patients and healthy subjects assessed by cardiac MRI: a pilot study. ( 28894923 )
2018
35
Evaluating interest in narrative therapy for decision making about pectus excavatum treatment. ( 29049840 )
2018
36
Beyond aesthetic consequences: congestive hepatopathy caused by pectus excavatum. ( 29506132 )
2018
37
Surgical Correction of Pectus Excavatum by the Nuss Procedure: A 15-Year Experience Study. ( 29525894 )
2018
38
Finite Element Analysis-Aided Design of Customized Nuss Bar in Pectus Excavatum Surgery. ( 29530768 )
2018
39
A Novel Objective Approach to the External Measurement of Pectus Excavatum Severity by Means of an Optical Device. ( 29549009 )
2018
40
Correlation between clinical severity and type and degree of pectus excavatum in twelve brachycephalic dogs. ( 29593167 )
2018
41
Pectus excavatum causing dynamic right ventricular outflow tract obstruction: increased obstruction during expiration and decreased during inspiration. ( 29617978 )
2018
42
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
43
Impact of vacuum bell on thoracic shape and cardiac function in pectus excavatum. ( 30057218 )
2018
44
Correction of pectus excavatum using the modified Nuss procedure, ad modum Pilegaard. ( 30070782 )
2018
45
Pectus Excavatum and Right Ventricular Compression in a Young Athlete with Syncope. ( 30076820 )
2018
46
Quantification of pectus excavatum: Anatomic indices. ( 30078482 )
2018
47
The physiologic impact of pectus excavatum repair. ( 30078483 )
2018
48
Modifications to the Nuss procedure for pectus excavatum repair: A 20-year review. ( 30078484 )
2018
49
Complications associated with the minimally invasive repair of pectus excavatum. ( 30078485 )
2018
50
Nuss procedure in the adult population for correction of pectus excavatum. ( 30078487 )
2018

Variations for Pectus Excavatum

ClinVar genetic disease variations for Pectus Excavatum:

6
# 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 ERCC5 NM_000123.3(ERCC5): c.2929_2930delCT (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh37 Chromosome 13, 103525658: 103525659
4 ERCC5 NM_000123.3(ERCC5): c.2929_2930delCT (p.Leu977Valfs) deletion Likely pathogenic rs1057518813 GRCh38 Chromosome 13, 102873308: 102873309
5 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
6 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
7 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh37 Chromosome X, 31196064: 31196064
8 DMD NM_004006.2(DMD): c.10247G> A (p.Trp3416Ter) single nucleotide variant Likely pathogenic rs201217593 GRCh38 Chromosome X, 31177947: 31177947
9 SMC1A NM_006306.3(SMC1A): c.2981A> G (p.Gln994Arg) single nucleotide variant Uncertain significance rs781817923 GRCh37 Chromosome X, 53410167: 53410167
10 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 peptidyl-tyrosine phosphorylation GO:0018108 9.61 ABL1 DDR2 FGFR3
2 protein autophosphorylation GO:0046777 9.58 ABL1 DDR2 FGFR3
3 skeletal system development GO:0001501 9.54 ACAN FBN1 FGFR3
4 DNA repair GO:0006281 9.35 ABL1 BIVM-ERCC5 ERCC5 EYA1 SMC1A
5 proteoglycan biosynthetic process GO:0030166 9.32 ACAN GAL3ST4
6 chondrocyte proliferation GO:0035988 9.26 DDR2 FGFR3
7 endochondral bone growth GO:0003416 9.16 DDR2 FGFR3
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 protein tyrosine kinase activity GO:0004713 9.33 ABL1 DDR2 FGFR3
2 hydrolase activity, acting on ester bonds GO:0016788 9.26 BIVM-ERCC5 ERCC5
3 endodeoxyribonuclease activity GO:0004520 8.96 BIVM-ERCC5 ERCC5
4 protein-containing complex binding GO:0044877 8.92 DMD ERCC5 FBN1 SMC1A

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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