MCID: PCT001
MIFTS: 28

Pectus Carinatum

Categories: Rare diseases

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 COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways is ECM-receptor interaction. The drugs Ethanol and Caffeine 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
Ethanol Approved Not Applicable 64-17-5 702
2
Caffeine Approved Not Applicable 58-08-2 2519
3
Zinc Approved, Investigational Not Applicable 7440-66-6
4
Hydrocortisone acetate Approved, Vet_approved 50-03-3
5
Epinephrine Approved, Vet_approved 51-43-4 5816
6
Hydrocortisone Approved, Vet_approved 50-23-7 5754
7
Racepinephrine Approved 329-65-7 838
8
Loperamide Approved Not Applicable 53179-11-6 3955
9
Histidine Approved, Nutraceutical Not Applicable 71-00-1 6274
10 Insulin, Globin Zinc Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 insulin Not Applicable
13 Hypoglycemic Agents Not Applicable
14 Epinephryl borate
15 Hydrocortisone 17-butyrate 21-propionate
16 Cortisol succinate
17 Antidiarrheals Not Applicable
18 Gastrointestinal Agents 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 Dynamic Compression Brace for Pectus Carinatum Completed NCT03559244 Not Applicable
5 Health-related Quality of Life in Patients Undergoing Surgery for Pectus Carinatum Completed NCT01692392
6 Study of Cushing's Syndrome Not Related to ACTH Production Completed NCT00006278
7 Pharmacokinetics of Carnosine Completed NCT00721708 Not Applicable
8 Short-term Effects of a Carob Snack on Postprandial Glycemic Responses and Energy Intake and Satiety Completed NCT02935829 Not Applicable
9 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
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 134)
# 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
Correction of a severe pectus carinatum by sterno-costo-chondroplasty with double osteotomy and triple rib bridge fixation. ( 29998585 )
2018
8
Minimally invasive repair of pectus carinatum: a retrospective analysis based on a single surgeon's 10 years of experience. ( 30039204 )
2018
9
Measured dynamic compression for pectus carinatum: A systematic review. ( 30078489 )
2018
10
Current Options for the Treatment of Pectus Carinatum: When to Brace and When to Operate? ( 30112746 )
2018
11
Long-Term Results of Compressive Brace Therapy for Pectus Carinatum. ( 30216948 )
2018
12
Measuring the impact of brace intervention on pediatric pectus carinatum using white light scanning. ( 30257811 )
2018
13
Minimally invasive repair of pectus carinatum by modification of the Abramson technique. ( 30302152 )
2018
14
Pectus carinatum: Chest deformity. ( 30309076 )
2018
15
Combined extra-/intrathoracic correction of pectus carinatum and other asymmetric chest wall deformities : A novel technique. ( 30310933 )
2018
16
Pectus Carinatum: Factors That Contribute to Success and Failure of Nonoperative Treatment. ( 29714404 )
2017
17
The Dynamic Compression Brace for Pectus Carinatum: Intermediate Results in 286 Patients. ( 28274516 )
2017
18
Pain and sensory disturbances following surgical repair of pectus carinatum. ( 28893382 )
2017
19
A Single-Center Experience with Dynamic Compression Bracing for Children with Pectus Carinatum. ( 28946165 )
2017
20
Force required for correcting the deformity of pectus carinatum and related multivariate analysis. ( 29357992 )
2017
21
A less intensive bracing protocol for pectus carinatum. ( 28196662 )
2017
22
Visual Diagnosis: A Child with Presumed Reactive Airway Disease, Pectus Carinatum, and Aortic Root Dilation. ( 28044041 )
2017
23
Success and duration of dynamic bracing for pectus carinatum: A four-year prospective study. ( 27836367 )
2017
24
Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum. ( 28618768 )
2017
25
Minimally invasive repair of pectus carinatum and how to deal with complications. ( 29078492 )
2016
26
Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction. ( 26889443 )
2016
27
Induced Pectus Carinatum. ( 26989996 )
2016
28
Clinical experience with orthotic repair of pectus carinatum. ( 26922690 )
2016
29
Is the Abramson technique effective in pectus carinatum repair? ( 27825548 )
2016
30
Dynamic Compression System: An Effective Nonoperative Treatment for Pectus Carinatum: A Single Center Experience in Basel, Switzerland. ( 26745521 )
2016
31
The sandwich technique for repair of pectus carinatum and excavatum/carinatum complex. ( 27747176 )
2016
32
Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy. ( 27066432 )
2016
33
PECTUS CARINATUM: A NOVEL METHOD OF STERNAL FIXATION. ( 28850201 )
2016
34
Pectus carinatum repair in an adolescent with hyperhomocysteinaemia: Anaesthetic implications. ( 27942072 )
2016
35
MyPectus: First-in-human pilot study of remote compliance monitoring of teens using dynamic compression bracing to correct pectus carinatum. ( 26700692 )
2016
36
Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum. ( 27366555 )
2016
37
A new technique for mixed-type pectus carinatum: modified Onen method. ( 26758385 )
2016
38
Complications Related to Pectus Carinatum Correction: Lessons Learned from 15 Years' Experience. Management and Literature Review. ( 27465193 )
2016
39
Open repair of pectus carinatum. ( 29078478 )
2016
40
Non-surgical treatment of pectus carinatum with the FMF® Dynamic Compressor System. ( 29078485 )
2016
41
Sparing internal thoracic vessels in thoracoscopic or submuscular correction of pectus carinatum: A porcine model study. ( 26362004 )
2015
42
Pectus Carinatum Evaluation Questionnaire (PCEQ): a novel tool to improve the follow-up in patients treated with brace compression. ( 26059874 )
2015
43
Finite element analysis of pectus carinatum surgical correction via a minimally invasive approach. ( 24428546 )
2015
44
Highly Efficient Conservative Treatment of Pectus Carinatum in Compliant Patients. ( 25111271 )
2015
45
Minimal invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum. ( 24096528 )
2014
46
Factors affecting patient compliance with compressive brace therapy for pectus carinatum. ( 25164133 )
2014
47
The etiology of pectus carinatum involves overgrowth of costal cartilage and undergrowth of ribs. ( 25092085 )
2014
48
Surgical correction of pectus carinatum improves perceived body image, mental health and self-esteem. ( 25783317 )
2014
49
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
50
Unusual feature of pycnodysostosis: pectus carinatum. ( 24938251 )
2014

Variations for Pectus Carinatum

ClinVar genetic disease variations for Pectus Carinatum:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh37 Chromosome 15, 48805853: 48805853
2 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 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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