MCID: PCT001
MIFTS: 29

Pectus Carinatum

Categories: Rare diseases

Aliases & Classifications for Pectus Carinatum

Summaries for Pectus Carinatum

NIH Rare Diseases : 54 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 NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways is ECM-receptor interaction. The drugs Caffeine and Zinc have been mentioned in the context of this disorder.

Wikipedia : 77 Pectus carinatum, also called pigeon chest, is a malformation of the chest characterized by a protrusion... more...

Related Diseases for Pectus Carinatum

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 scoliosis 29.4 COL2A1 FBN1 NSD1
2 guizar vasquez sanchez manzano syndrome 12.1
3 spondyloepimetaphyseal dysplasia, strudwick type 11.5
4 nemaline myopathy 5 11.4
5 arthrogryposis, distal, type 9 11.2
6 ruvalcaba syndrome 11.2
7 multiple synostoses syndrome 1 11.2
8 arterial tortuosity syndrome 11.2
9 coffin-lowry syndrome 11.2
10 mental retardation, x-linked, syndromic, snyder-robinson type 11.2
11 otopalatodigital syndrome, type i 11.2
12 spastic paraplegia 53, autosomal recessive 11.2
13 catel-manzke syndrome 11.2
14 joint laxity, short stature, and myopia 11.2
15 syndromic x-linked intellectual disability snyder type 11.2
16 noonan syndrome with multiple lentigines 11.2
17 fitzsimmons-guilbert syndrome 11.2
18 richieri costa da silva syndrome 11.2
19 typical congenital nemaline myopathy 11.2
20 pectus excavatum 10.8
21 treacher collins syndrome 1 10.2
22 nail-patella syndrome 10.2
23 neurofibromatosis, type iv, of riccardi 10.2
24 patterson pseudoleprechaunism syndrome 10.2
25 down syndrome 10.2
26 familial mediterranean fever 10.2
27 pycnodysostosis 10.2
28 myocardial infarction 10.2
29 alternating exotropia 10.2
30 exotropia 10.2
31 patent foramen ovale 10.2
32 disease of mental health 10.2
33 dysostosis 10.2
34 mitral valve disease 10.2
35 plummer vinson syndrome 10.2
36 macroglossia 9.9 COL2A1 NSD1
37 rare isolated myopia 9.8 COL2A1 FBN1
38 myopia 9.8 COL2A1 FBN1
39 brachydactyly 9.6 COL2A1 FBN1

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
Caffeine Approved Not Applicable 58-08-2 2519
2
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
3
Ethanol Approved Not Applicable 64-17-5 702
4
Racepinephrine Approved 329-65-7 838
5
Hydrocortisone Approved, Vet_approved 50-23-7 5754
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7
Hydrocortisone acetate Approved, Vet_approved 50-03-3
8
Loperamide Approved Not Applicable 53179-11-6 3955
9
Histidine Approved, Nutraceutical Not Applicable 71-00-1 6274
10 Pharmaceutical Solutions Not Applicable
11 insulin Not Applicable
12 Insulin, Globin Zinc Not Applicable
13 Hypoglycemic Agents Not Applicable
14 Hydrocortisone 17-butyrate 21-propionate
15 Epinephryl borate
16 Hydrocortisone hemisuccinate
17 Antidiarrheals Not Applicable
18 Locust bean gum Not Applicable
19 Gastrointestinal Agents Not Applicable

Interventional clinical trials:

(show all 16)
# 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 Chest Wall Motion Analysis in Disease Completed NCT02958683
7 The Metabolic Effects of Consuming Carbohydrate With Different Protein Types Completed NCT02380846 Not Applicable
8 Study of Cushing's Syndrome Not Related to ACTH Production Completed NCT00006278
9 Pharmacokinetics of Carnosine Completed NCT00721708 Not Applicable
10 Short-term Effects of a Carob Snack on Postprandial Glycemic Responses and Energy Intake and Satiety Completed NCT02935829 Not Applicable
11 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
12 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities Recruiting NCT02528656 Not Applicable
13 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265 Not Applicable
14 Eating Frequency Study Active, not recruiting NCT01731522 Not Applicable
15 Three-dimensional Optical Imaging Based Severity Measurements of Pectus Excavatum and Carinatum Not yet recruiting NCT03926078 Not Applicable
16 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 30

Anatomical Context for Pectus Carinatum

Publications for Pectus Carinatum

Articles related to Pectus Carinatum:

(show top 50) (show all 137)
# Title Authors Year
1
Acute anterior myocardial infarction with pectus carinatum. ( 31078109 )
2019
2
Long-Term Results of Compressive Brace Therapy for Pectus Carinatum. ( 30216948 )
2019
3
Effectiveness of Compressive External Bracing in Patients with Flexible Pectus Carinatum Deformity: A Review. ( 31022736 )
2019
4
Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire. ( 31056346 )
2019
5
Is the Abramson technique effective in pectus carinatum repair? ( 27825548 )
2018
6
Pain and sensory disturbances following surgical repair of pectus carinatum. ( 28893382 )
2018
7
A Single-Center Experience with Dynamic Compression Bracing for Children with Pectus Carinatum. ( 28946165 )
2018
8
The effect on cardiopulmonary function after thoracoplasty in pectus carinatum: a systematic literature review. ( 29092017 )
2018
9
Minimally Invasive Repair of Pectus Carinatum. ( 29325984 )
2018
10
Force required for correcting the deformity of pectus carinatum and related multivariate analysis. ( 29357992 )
2018
11
Pigeon chest: comparative analysis of surgical techniques in minimal access repair of pectus carinatum (MARPC). ( 29500788 )
2018
12
Bracing of pectus carinatum: A quantitative analysis. ( 29525272 )
2018
13
Minimally Invasive Repair of Pectus Carinatum: Bar Number and Technique. ( 29763598 )
2018
14
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. ( 29866441 )
2018
15
Correction of a severe pectus carinatum by sterno-costo-chondroplasty with double osteotomy and triple rib bridge fixation. ( 29998585 )
2018
16
Minimally invasive repair of pectus carinatum: a retrospective analysis based on a single surgeon's 10 years of experience. ( 30039204 )
2018
17
Measured dynamic compression for pectus carinatum: A systematic review. ( 30078489 )
2018
18
Current Options for the Treatment of Pectus Carinatum: When to Brace and When to Operate? ( 30112746 )
2018
19
Measuring the impact of brace intervention on pediatric pectus carinatum using white light scanning. ( 30257811 )
2018
20
Minimally invasive repair of pectus carinatum by modification of the Abramson technique. ( 30302152 )
2018
21
Pectus carinatum: Chest deformity. ( 30309076 )
2018
22
Combined extra-/intrathoracic correction of pectus carinatum and other asymmetric chest wall deformities : A novel technique. ( 30310933 )
2018
23
Success and duration of dynamic bracing for pectus carinatum: A four-year prospective study. ( 27836367 )
2017
24
Visual Diagnosis: A Child with Presumed Reactive Airway Disease, Pectus Carinatum, and Aortic Root Dilation. ( 28044041 )
2017
25
A less intensive bracing protocol for pectus carinatum. ( 28196662 )
2017
26
The Dynamic Compression Brace for Pectus Carinatum: Intermediate Results in 286 Patients. ( 28274516 )
2017
27
Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum. ( 28618768 )
2017
28
Pectus Carinatum: Factors That Contribute to Success and Failure of Nonoperative Treatment. ( 29714404 )
2017
29
Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum. ( 27366555 )
2016
30
Pectus Carinatum Evaluation Questionnaire (PCEQ): a novel tool to improve the follow-up in patients treated with brace compression. ( 26059874 )
2016
31
Sparing internal thoracic vessels in thoracoscopic or submuscular correction of pectus carinatum: A porcine model study. ( 26362004 )
2016
32
MyPectus: First-in-human pilot study of remote compliance monitoring of teens using dynamic compression bracing to correct pectus carinatum. ( 26700692 )
2016
33
Dynamic Compression System: An Effective Nonoperative Treatment for Pectus Carinatum: A Single Center Experience in Basel, Switzerland. ( 26745521 )
2016
34
A new technique for mixed-type pectus carinatum: modified Onen method. ( 26758385 )
2016
35
Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction. ( 26889443 )
2016
36
Clinical experience with orthotic repair of pectus carinatum. ( 26922690 )
2016
37
Induced Pectus Carinatum. ( 26989996 )
2016
38
Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy. ( 27066432 )
2016
39
Complications Related to Pectus Carinatum Correction: Lessons Learned from 15 Years' Experience. Management and Literature Review. ( 27465193 )
2016
40
The sandwich technique for repair of pectus carinatum and excavatum/carinatum complex. ( 27747176 )
2016
41
Pectus carinatum repair in an adolescent with hyperhomocysteinaemia: Anaesthetic implications. ( 27942072 )
2016
42
PECTUS CARINATUM: A NOVEL METHOD OF STERNAL FIXATION. ( 28850201 )
2016
43
Open repair of pectus carinatum. ( 29078478 )
2016
44
Non-surgical treatment of pectus carinatum with the FMF® Dynamic Compressor System. ( 29078485 )
2016
45
Minimally invasive repair of pectus carinatum and how to deal with complications. ( 29078492 )
2016
46
Finite element analysis of pectus carinatum surgical correction via a minimally invasive approach. ( 24428546 )
2015
47
Highly Efficient Conservative Treatment of Pectus Carinatum in Compliant Patients. ( 25111271 )
2015
48
Surgical correction of pectus carinatum improves perceived body image, mental health and self-esteem. ( 25783317 )
2015
49
Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy. ( 24451233 )
2014
50
Minimal invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum. ( 24096528 )
2014

Variations for Pectus Carinatum

ClinVar genetic disease variations for Pectus Carinatum:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
2 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
3 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
4 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh37 Chromosome 15, 48805853: 48805853
5 FBN1 NM_000138.4(FBN1): c.1481G> T (p.Cys494Phe) single nucleotide variant Likely pathogenic rs1057518881 GRCh38 Chromosome 15, 48513656: 48513656
6 COL5A2 NM_000393.5(COL5A2): c.1842G> A (p.Met614Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 189927925: 189927925
7 COL5A2 NM_000393.5(COL5A2): c.1842G> A (p.Met614Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 189063199: 189063199
8 FGF14 NM_004115.3(FGF14): c.486dup (p.Arg163Glnfs) duplication Likely pathogenic GRCh37 Chromosome 13, 102379082: 102379083
9 FGF14 NM_004115.3(FGF14): c.486dup (p.Arg163Glnfs) duplication Likely pathogenic GRCh38 Chromosome 13, 101726733: 101726733
10 CREBBP NM_004380.2(CREBBP): c.5603G> A (p.Arg1868Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 3779445: 3779445
11 CREBBP NM_004380.2(CREBBP): c.5603G> A (p.Arg1868Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 3729444: 3729444

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
10.81 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 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 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
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