Aliases & Classifications for Pectus Carinatum

Summaries for Pectus Carinatum

NIH Rare Diseases : 53 Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.

MalaCards based summary : Pectus Carinatum, also known as carinatum deformity of the chest, is related to scoliosis and guizar vasquez sanchez manzano syndrome. An important gene associated with Pectus Carinatum is GZF1 (GDNF Inducible Zinc Finger Protein 1), and among its related pathways/superpathways is ECM-receptor interaction. The drugs Zinc and Ethanol have been mentioned in the context of this disorder.

Wikipedia : 76 Pectus carinatum (L carīnātus, equiv. to carīn(a) keel), also called pigeon chest, is a malformation of... more...

Related Diseases for Pectus Carinatum

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



Diseases related to Pectus Carinatum

Symptoms & Phenotypes for Pectus Carinatum

Drugs & Therapeutics for Pectus Carinatum

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
2
Ethanol Approved Not Applicable 64-17-5 702
3
Hydrocortisone Approved, Vet_approved 50-23-7 5754
4
Loperamide Approved Not Applicable 53179-11-6 3955
5
Epinephrine Approved, Vet_approved 51-43-4 5816
6
Racepinephrine Approved 329-65-7 838
7
Caffeine Approved, Nutraceutical Not Applicable 58-08-2 2519
8
Histidine Approved, Nutraceutical Not Applicable 71-00-1 6274
9 insulin Not Applicable
10 Hypoglycemic Agents Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 Insulin, Globin Zinc Not Applicable
13 Gastrointestinal Agents Not Applicable
14 Cortisol succinate
15 Hydrocortisone 17-butyrate 21-propionate
16 Hydrocortisone acetate
17 Epinephryl borate
18 Antidiarrheals Not Applicable
19 Locust bean gum Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 The Role of Meat-borne Carcinogens in Pancreatic Cancer Withdrawn NCT01092689 Phase 1 PhiP
2 Short and Long-term Effects of Surgical Repair of Pectus Deformities Unknown status NCT01329120
3 Determination of Glycemic and Insulinemic Indices Unknown status NCT01477216 Not Applicable
4 Health-related Quality of Life in Patients Undergoing Surgery for Pectus Carinatum Completed NCT01692392
5 Study of Cushing's Syndrome Not Related to ACTH Production Completed NCT00006278
6 Pharmacokinetics of Carnosine Completed NCT00721708 Not Applicable
7 Short-term Effects of a Carob Snack on Postprandial Glycemic Responses and Energy Intake and Satiety Completed NCT02935829 Not Applicable
8 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
9 Dynamic Compression Brace for Pectus Carinatum Recruiting NCT03559244 Not Applicable
10 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
11 Chest Wall Motion Analysis in Disease Recruiting NCT02958683
12 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265 Not Applicable
13 The Metabolic Effects of Consuming Carbohydrate With Different Protein Types Active, not recruiting NCT02380846 Not Applicable
14 Eating Frequency Study Active, not recruiting NCT01731522 Not Applicable
15 Assessment of Thoughts and Feelings Occurring During and After a Meal Withdrawn NCT01909635 Not Applicable

Search NIH Clinical Center for Pectus Carinatum

Genetic Tests for Pectus Carinatum

Genetic tests related to Pectus Carinatum:

# Genetic test Affiliating Genes
1 Pectus Carinatum 29

Anatomical Context for Pectus Carinatum

Publications for Pectus Carinatum

Articles related to Pectus Carinatum:

(show top 50) (show all 123)
# Title Authors Year
1
Minimally Invasive Repair of Pectus Carinatum: Bar Number and Technique. ( 29763598 )
2018
2
Bracing of pectus carinatum: A quantitative analysis. ( 29525272 )
2018
3
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. ( 29866441 )
2018
4
Pigeon chest: comparative analysis of surgical techniques in minimal access repair of pectus carinatum (MARPC). ( 29500788 )
2018
5
The effect on cardiopulmonary function after thoracoplasty in pectus carinatum: a systematic literature review. ( 29092017 )
2018
6
Minimally Invasive Repair of Pectus Carinatum. ( 29325984 )
2018
7
Pectus Carinatum: Factors That Contribute to Success and Failure of Nonoperative Treatment. ( 29714404 )
2017
8
The Dynamic Compression Brace for Pectus Carinatum: Intermediate Results in 286 Patients. ( 28274516 )
2017
9
Pain and sensory disturbances following surgical repair of pectus carinatum. ( 28893382 )
2017
10
A Single-Center Experience with Dynamic Compression Bracing for Children with Pectus Carinatum. ( 28946165 )
2017
11
Force required for correcting the deformity of pectus carinatum and related multivariate analysis. ( 29357992 )
2017
12
A less intensive bracing protocol for pectus carinatum. ( 28196662 )
2017
13
Visual Diagnosis: A Child with Presumed Reactive Airway Disease, Pectus Carinatum, and Aortic Root Dilation. ( 28044041 )
2017
14
Success and duration of dynamic bracing for pectus carinatum: A four-year prospective study. ( 27836367 )
2017
15
Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum. ( 28618768 )
2017
16
Minimally invasive repair of pectus carinatum and how to deal with complications. ( 29078492 )
2016
17
Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction. ( 26889443 )
2016
18
Induced Pectus Carinatum. ( 26989996 )
2016
19
Clinical experience with orthotic repair of pectus carinatum. ( 26922690 )
2016
20
Is the Abramson technique effective in pectus carinatum repair? ( 27825548 )
2016
21
Dynamic Compression System: An Effective Nonoperative Treatment for Pectus Carinatum: A Single Center Experience in Basel, Switzerland. ( 26745521 )
2016
22
The sandwich technique for repair of pectus carinatum and excavatum/carinatum complex. ( 27747176 )
2016
23
Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy. ( 27066432 )
2016
24
PECTUS CARINATUM: A NOVEL METHOD OF STERNAL FIXATION. ( 28850201 )
2016
25
Pectus carinatum repair in an adolescent with hyperhomocysteinaemia: Anaesthetic implications. ( 27942072 )
2016
26
MyPectus: First-in-human pilot study of remote compliance monitoring of teens using dynamic compression bracing to correct pectus carinatum. ( 26700692 )
2016
27
Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum. ( 27366555 )
2016
28
A new technique for mixed-type pectus carinatum: modified Onen method. ( 26758385 )
2016
29
Complications Related to Pectus Carinatum Correction: Lessons Learned from 15 Years' Experience. Management and Literature Review. ( 27465193 )
2016
30
Non-surgical treatment of pectus carinatum with the FMF<sup>Ar</sup>Dynamic Compressor System. ( 29078485 )
2016
31
Sparing internal thoracic vessels in thoracoscopic or submuscular correction of pectus carinatum: A porcine model study. ( 26362004 )
2015
32
Pectus Carinatum Evaluation Questionnaire (PCEQ): a novel tool to improve the follow-up in patients treated with brace compression. ( 26059874 )
2015
33
Minimal invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum. ( 24096528 )
2014
34
Factors affecting patient compliance with compressive brace therapy for pectus carinatum. ( 25164133 )
2014
35
The etiology of pectus carinatum involves overgrowth of costal cartilage and undergrowth of ribs. ( 25092085 )
2014
36
Surgical correction of pectus carinatum improves perceived body image, mental health and self-esteem. ( 25783317 )
2014
37
Pure pectus carinatum (not associated with pectus excavatum) solved by MIRPC (minimally invasive repair of pectus carinatum) associated with bilateral mamarian hypoplasia solved by bilateral breast implants. ( 24524485 )
2014
38
Unusual feature of pycnodysostosis: pectus carinatum. ( 24938251 )
2014
39
Evaluation of the treatment of pectus carinatum with compressive orthotic bracing using three dimensional body scans. ( 24888836 )
2014
40
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. ( 24451233 )
2014
41
Redo cardiac surgery in a patient with severe kyphoscoliosis and pectus carinatum: a technical challenge. ( 25146320 )
2014
42
Highly Efficient Conservative Treatment of Pectus Carinatum in Compliant Patients. ( 25111271 )
2014
43
Finite element analysis of pectus carinatum surgical correction via a minimally invasive approach. ( 24428546 )
2014
44
Preliminary study of efficacy of dynamic compression system in the correction of typical pectus carinatum. ( 24014551 )
2013
45
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. ( 24288143 )
2013
46
Chondro-manubrial deformity and bifid rib, rare variations seen in pectus carinatum: a radiological finding. ( 23196368 )
2013
47
Sub-axillary access with the use of costal cartilages articulated bars for correction of pectus carinatum. ( 23111343 )
2013
48
Staged management of pectus carinatum. ( 23414858 )
2013
49
Pectus carinatum. ( 23657247 )
2013
50
Bracing is an effective therapy for pectus carinatum: interim results. ( 23331813 )
2013

Variations for Pectus Carinatum

ClinVar genetic disease variations for Pectus Carinatum:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
2 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh37 Chromosome 15, 48805853: 48805853
3 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh38 Chromosome 15, 48513656: 48513656

Expression for Pectus Carinatum

Search GEO for disease gene expression data for Pectus Carinatum.

Pathways for Pectus Carinatum

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.8 COL2A1 FBN1

GO Terms for Pectus Carinatum

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.96 COL2A1 FBN1
2 basement membrane GO:0005604 8.62 COL2A1 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL2A1 FBN1
2 skeletal system development GO:0001501 8.62 COL2A1 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 FBN1

Sources for Pectus Carinatum

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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