MCID: PCT001
MIFTS: 33

Pectus Carinatum

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Pectus Carinatum

MalaCards integrated aliases for Pectus Carinatum:

Name: Pectus Carinatum 20 29 6 70 32
Carinatum Deformity of the Chest 20

Classifications:



External Ids:

ICD10 32 Q67.7
UMLS 70 C2939416

Summaries for Pectus Carinatum

GARD : 20 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 marfan syndrome and brittle bone disorder. An important gene associated with Pectus Carinatum is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone.

Wikipedia : 73 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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 31.4 FBN1 COL5A2 COL2A1
2 brittle bone disorder 30.0 FBN1 COL5A2 COL2A1
3 patent foramen ovale 29.4 NSD1 FGF14 FBN1
4 scoliosis 29.3 NSD1 FGF14 FBN1 CREBBP COL2A1
5 guizar vasquez sanchez manzano syndrome 11.7
6 spondyloepimetaphyseal dysplasia, strudwick type 11.4
7 arterial tortuosity syndrome 11.2
8 nemaline myopathy 5 11.2
9 noonan syndrome 1 11.1
10 contractural arachnodactyly, congenital 11.1
11 metatropic dysplasia 11.1
12 ruvalcaba syndrome 11.1
13 shprintzen-goldberg craniosynostosis syndrome 11.1
14 multiple synostoses syndrome 1 11.1
15 mucopolysaccharidosis, type iva 11.1
16 schwartz-jampel syndrome, type 1 11.1
17 coffin-lowry syndrome 11.1
18 mental retardation, x-linked, syndromic, snyder-robinson type 11.1
19 otopalatodigital syndrome, type i 11.1
20 spastic paraplegia 53, autosomal recessive 11.1
21 catel-manzke syndrome 11.1
22 joint laxity, short stature, and myopia 11.1
23 spondyloepiphyseal dysplasia, kondo-fu type 11.1
24 loeys-dietz syndrome 11.1
25 syndromic x-linked intellectual disability snyder type 11.1
26 noonan syndrome with multiple lentigines 11.1
27 fitzsimmons syndrome 11.1
28 richieri costa da silva syndrome 11.1
29 typical congenital nemaline myopathy 11.1
30 pectus excavatum 10.9
31 pneumothorax 10.5
32 overgrowth syndrome 10.4
33 orthostatic intolerance 10.3
34 pain agnosia 10.3
35 dowling-degos disease 1 10.2
36 neurofibromatosis 10.2
37 retinal lattice degeneration 10.1 FBN1 COL2A1
38 neurofibromatosis, type ii 10.1
39 treacher collins syndrome 1 10.1
40 nail-patella syndrome 10.1
41 patterson pseudoleprechaunism syndrome 10.1
42 down syndrome 10.1
43 pierre robin syndrome 10.1
44 pycnodysostosis 10.1
45 myocardial infarction 10.1
46 hypertrophic scars 10.1
47 exanthem 10.1
48 brachydactyly 10.1
49 umbilical hernia 10.1
50 b-lymphoblastic leukemia/lymphoma 10.1

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

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Unknown status NCT03548922
2 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities. Pectus Excavatum Pectus-Carinatum. Single-center Study Unknown status NCT02528656
3 Short and Long-term Effects of Surgical Repair of Pectus Excavatum and Pectus Carinatum - A Questionnaire Study of Persistent Post-surgical Pain, Health-related Quality of Life, Patient Satisfaction, and Aesthetic Outcome Unknown status NCT01329120
4 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
5 Short and Long-term Effects of Surgical Repair of Pectus Carinatum - A Questionnaire Study of Health-related Quality of Life, Persisten Post-surgical Pain and Sensory Disturbances. Completed NCT01692392
6 An Observational Study of Chest Wall Motion Analysis in Disease Completed NCT02958683
7 Validity and Reliability of the Turkish Version of the Pectus Carinatum Evaluation Questionnaire for Patients With Pectus Carinatum Recruiting NCT04783948
8 Validity and Reliability of the Turkish Version of the Pectus Carinatum Body Image Quality of Life Questionnaire for Patients With Pectus Carinatum Recruiting NCT04782362
9 Safety and Efficacy of a Modular and Adjustable Chest Compressor Model for Conservative Treatment of Pectus Carinatum: a Multicenter Study Recruiting NCT04171063
10 Effects of Exercise Therapy in Addition to Compression Orthotics in Patients With Pectus Carinatum Recruiting NCT04167800
11 Prognosis Factors for the Treatment of Pectus Carinatum With a Dynamic Compression System Recruiting NCT04452721
12 Evaluation of Mental Health, Self-esteem, Body Image and Quality of Life in Patients With Pectus Excavatum or Pectus Carinatum: Relationship With Severity and Type of the Deformity, and Patients' Age Recruiting NCT04362878
13 Effects of Exercise Therapy in Addition to Vacuum Bell in Patients With Pectus Carinatum Recruiting NCT04167865
14 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265

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

MalaCards organs/tissues related to Pectus Carinatum:

40
Bone

Publications for Pectus Carinatum

Articles related to Pectus Carinatum:

(show top 50) (show all 442)
# Title Authors PMID Year
1
Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis. 61
33364264 2021
2
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. 61
33571694 2021
3
A Comparative Study on Short-Term Effects of Compression Orthosis and Exercises in the Treatment of Pectus Carinatum: A Randomized Controlled Pilot Feasibility Trial. 61
32146715 2021
4
Seasonal interest in pectus excavatum and pectus carinatum: a retrospective analysis of Google Trends data. 61
33717576 2021
5
Amianthoid transformation of costal cartilage matrix in children with pectus excavatum and pectus carinatum. 61
33493174 2021
6
A prospective study on long-term trace metal accumulation in hair: Is there any difference between minimally invasive repair of pectus excavatum and carinatum? 61
33551146 2021
7
Comparison of physical functions and psychosocial conditions between adolescents with pectus excavatum, pectus carinatum and healthy controls. 61
33454849 2021
8
Ten-year experience with staged management of pectus carinatum: Results and lessons learned. 61
33558070 2021
9
Use of cryoanalgesia as a postoperative pain management for open pectus carinatum repair. 61
33112997 2021
10
Nasopharyngeal carcinoma in a child with Kartagener`s syndrome. 61
33686839 2021
11
Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review. 61
33407246 2021
12
Orthotic Bracing or Minimally Invasive Surgery? A Summary of 767 Pectus Carinatum Cases for 9 Years. 61
33681377 2021
13
Impact of surgical treatment of pectus carinatum on cardiopulmonary function: a prospective study. 61
33212487 2021
14
Site-1 protease controls osteoclastogenesis by mediating LC3 transcription. 61
33469231 2021
15
Long-term results after the modified Ravitch procedure performed in children and adolescents - a one-time procedure without the need to use additional support of the sternum. A retrospective study. 61
33552179 2020
16
Echocardiography Reveals Heart Abnormalities in Pediatric Pectus Carinatum. 61
32739619 2020
17
Physician-Estimated Depth as a Screening Tool for Computed Tomography Evaluation of Pectus Excavatum. 61
32451117 2020
18
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. 61
32740904 2020
19
Repair of pectus carinatum, carinatum/excavatum complex patients with doubly double bar technique. 61
32200520 2020
20
Usefulness of 3-Dimensional Body Surface Scanning in the Evaluation of Patients with Pectus Carinatum. 61
32919444 2020
21
Surgical correction of pectus carinatum. 61
33000923 2020
22
Ultrasound-Guided Transversus Thoracis Muscle Plane Block Provides Effective Postoperative Analgesia for Pediatric Open Pectus Carinatum Surgery: First Report. 61
32783064 2020
23
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. 61
32376980 2020
24
Does physiotherapy applied in conjunction with compression brace treatment in patients with pectus carinatum have efficacy? A preliminary randomized-controlled study. 61
32424499 2020
25
Initial reduction of flexible pectus carinatum with outpatient manipulation as an adjunct to external compressive bracing: technique and early outcomes at 12 weeks. 61
31708203 2020
26
Optical imaging versus CT and plain radiography to quantify pectus severity: a systematic review and meta-analysis. 61
32395285 2020
27
Cardiac interventions in patients with achondroplasia: a systematic review. 61
32274169 2020
28
Sternocostal instability after Ravitch repair in adolescents; 3 case-reports and a review of surgical techniques in the literature. 61
32537368 2020
29
External Compressive Bracing With Initial Reduction of Pectus Carinatum: Compliance Is the Key. 61
31557482 2020
30
Effectiveness of Compressive External Bracing in Patients with Flexible Pectus Carinatum Deformity: A Review. 61
31022736 2020
31
Complete Resection of a Large Mediastinal Calcifying Fibrous Tumor. 61
32793407 2020
32
Comparison of Outcomes Between Anti-Nuss Operation and Modified Anti-Nuss Operation Using a Flexible Plate for Correcting Pectus Carinatum: A Retrospective Study. 61
33659269 2020
33
Left congenital diaphragmatic hernia-associated musculoskeletal deformities. 61
31482324 2019
34
Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire. 61
31056346 2019
35
Outcomes Following Dynamic Compression Bracing for Pectus Carinatum. 61
31241400 2019
36
Correction of a severe pectus carinatum by sterno-costo-chondroplasty with double osteotomy and triple rib bridge fixation. 61
29998585 2019
37
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. 61
31604653 2019
38
Pectus Carinatum: a non-invasive and objective measurement of severity. 61
31154586 2019
39
[Minimally Invasive Technologies in Surgery of the Chest Wall in Children]. 61
31747162 2019
40
Percutaneous closure of a large atrial septal defect in a child with severe dextroscoliosis: A case report. 61
31384332 2019
41
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum. 61
31283647 2019
42
Acute anterior myocardial infarction with pectus carinatum. 61
31078109 2019
43
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. 61
31200731 2019
44
Demographic characteristics of pectus deformities across Turkey. 61
32551163 2019
45
Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta. 61
31218168 2019
46
Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. 61
30556322 2019
47
An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum. 61
30383585 2019
48
Abnormal response of costal chondrocytes to acidosis in patients with chest wall deformity. 61
30485799 2019
49
A Simplified Method for Three-Dimensional Optical Imaging and Measurement of Patients with Chest Wall Deformities. 61
30207836 2019
50
Prevalence of pectus excavatum (PE), pectus carinatum (PC), tracheal hypoplasia, thoracic spine deformities and lateral heart displacement in thoracic radiographs of screw-tailed brachycephalic dogs. 61
31600285 2019

Variations for Pectus Carinatum

ClinVar genetic disease variations for Pectus Carinatum:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
2 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 GRCh37: 15:48776093-48776096
GRCh38: 15:48483896-48483899
3 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
4 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) SNV Likely pathogenic 598959 rs1567263168 GRCh37: 16:3779445-3779445
GRCh38: 16:3729444-3729444
5 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) SNV Likely pathogenic 374079 rs1057518881 GRCh37: 15:48805853-48805853
GRCh38: 15:48513656-48513656
6 COL5A2 NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile) SNV Uncertain significance 598958 rs1559085751 GRCh37: 2:189927925-189927925
GRCh38: 2:189063199-189063199

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
11.92 FGF14 FBN1 CREBBP COL5A2 COL2A1
2 10.98 NSD1 CREBBP
3 10.16 FGF14 FBN1 COL5A2 COL2A1

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 9.13 FBN1 COL5A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 8.92 MBTPS1 FBN1 COL5A2 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.16 COL5A2 COL2A1
2 extracellular matrix organization GO:0030198 9.13 FBN1 COL5A2 COL2A1
3 skeletal system development GO:0001501 8.8 FBN1 COL5A2 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL5A2 COL2A1
2 extracellular matrix structural constituent GO:0005201 8.8 FBN1 COL5A2 COL2A1

Sources for Pectus Carinatum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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