Aliases & Classifications for Pectus Carinatum

MalaCards integrated aliases for Pectus Carinatum:

Name: Pectus Carinatum 52 29 6 71 32
Carinatum Deformity of the Chest 52

Classifications:



External Ids:

ICD10 32 Q67.7
UMLS 71 C2939416

Summaries for Pectus Carinatum

NIH Rare Diseases : 52 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 CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include breast, heart and bone.

Wikipedia : 74 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 80)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 31.1 FBN1 COL5A2 COL2A1
2 brittle bone disorder 29.7 FBN1 COL5A2 COL2A1
3 scoliosis 29.6 NSD1 FBN1 CREBBP COL2A1
4 brachydactyly 29.5 MBTPS1 FBN1 COL2A1
5 patent foramen ovale 29.3 NSD1 FGF14 FBN1
6 guizar vasquez sanchez manzano syndrome 12.3
7 spondyloepimetaphyseal dysplasia, strudwick type 11.7
8 noonan syndrome 1 11.7
9 arterial tortuosity syndrome 11.5
10 nemaline myopathy 5 11.5
11 noonan syndrome with multiple lentigines 11.5
12 contractural arachnodactyly, congenital 11.3
13 metatropic dysplasia 11.3
14 ruvalcaba syndrome 11.3
15 shprintzen-goldberg craniosynostosis syndrome 11.3
16 multiple synostoses syndrome 1 11.3
17 mucopolysaccharidosis, type iva 11.3
18 schwartz-jampel syndrome, type 1 11.3
19 coffin-lowry syndrome 11.3
20 mental retardation, x-linked, syndromic, snyder-robinson type 11.3
21 otopalatodigital syndrome, type i 11.3
22 spastic paraplegia 53, autosomal recessive 11.3
23 catel-manzke syndrome 11.3
24 joint laxity, short stature, and myopia 11.3
25 spondyloepiphyseal dysplasia, kondo-fu type 11.3
26 loeys-dietz syndrome 11.3
27 syndromic x-linked intellectual disability snyder type 11.3
28 fitzsimmons-guilbert syndrome 11.3
29 richieri costa da silva syndrome 11.3
30 typical congenital nemaline myopathy 11.3
31 pectus excavatum 11.0
32 pneumothorax 10.7
33 overgrowth syndrome 10.6
34 dowling-degos disease 1 10.4
35 orthostatic intolerance 10.4
36 neurofibromatosis 10.4
37 autoimmune disease 10.2
38 treacher collins syndrome 1 10.2
39 nail-patella syndrome 10.2
40 patterson pseudoleprechaunism syndrome 10.2
41 down syndrome 10.2
42 pierre robin syndrome 10.2
43 pycnodysostosis 10.2
44 myocardial infarction 10.2
45 hypertrophic scars 10.2
46 exanthem 10.2
47 pain agnosia 10.2
48 umbilical hernia 10.2
49 social phobia 10.2
50 alternating exotropia 10.2

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 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
2 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
3 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
4 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
5 An Observational Study of Chest Wall Motion Analysis in Disease Completed NCT02958683
6 Safety and Efficacy of a Modular and Adjustable Chest Compressor Model for Conservative Treatment of Pectus Carinatum: a Multicenter Study Recruiting NCT04171063
7 Effects of Exercise Therapy in Addition to Compression Orthotics in Patients With Pectus Carinatum Recruiting NCT04167800
8 Physiological Assessments During Non Operative Treatment on the Chest Wall Deformities. Pectus Excavatum Pectus-Carinatum. Single-center Study Recruiting NCT02528656
9 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
10 Impact of Risser Stage on Pressure of Correction in Pectus Carinatum Recruiting NCT03548922
11 Comparison of Physical and Psychosocial Characteristics of Pectus Excavatum and Carinatum Patients With Healthy Controls Recruiting NCT04172142
12 Effects of Exercise Therapy in Addition to Vacuum Bell in Patients With Pectus Carinatum Recruiting NCT04167865
13 Impact of Surgical Treatments of Thoracic Deformation on Cardiopulmonary Functions Active, not recruiting NCT02163265
14 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456

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
Breast, Heart, Bone, Skin, Lymph Node, Brain, Lung

Publications for Pectus Carinatum

Articles related to Pectus Carinatum:

(show top 50) (show all 420)
# Title Authors PMID Year
1
Does physiotherapy applied in conjunction with compression brace treatment in patients with pectus carinatum have efficacy? A preliminary randomized-controlled study. 61
32424499 2020
2
Physician-Estimated Depth as a Screening Tool for Computed Tomography Evaluation of Pectus Excavatum. 61
32451117 2020
3
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. 61
32376980 2020
4
Optical imaging versus CT and plain radiography to quantify pectus severity: a systematic review and meta-analysis. 61
32395285 2020
5
Cardiac interventions in patients with achondroplasia: a systematic review. 61
32274169 2020
6
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 2020
7
Repair of pectus carinatum, carinatum/excavatum complex patients with doubly double bar technique. 61
32200520 2020
8
Sternocostal instability after Ravitch repair in adolescents; 3 case-reports and a review of surgical techniques in the literature. 61
32537368 2020
9
External Compressive Bracing With Initial Reduction of Pectus Carinatum: Compliance Is the Key. 61
31557482 2020
10
Effectiveness of Compressive External Bracing in Patients with Flexible Pectus Carinatum Deformity: A Review. 61
31022736 2020
11
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 2019
12
Left congenital diaphragmatic hernia-associated musculoskeletal deformities. 61
31482324 2019
13
Development and validation of the Pectus Carinatum Body Image Quality of Life (PeCBI-QOL) questionnaire. 61
31056346 2019
14
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. 61
31604653 2019
15
Correction of a severe pectus carinatum by sterno-costo-chondroplasty with double osteotomy and triple rib bridge fixation. 61
29998585 2019
16
Outcomes Following Dynamic Compression Bracing for Pectus Carinatum. 61
31241400 2019
17
Pectus Carinatum: a non-invasive and objective measurement of severity. 61
31154586 2019
18
Percutaneous closure of a large atrial septal defect in a child with severe dextroscoliosis: A case report. 61
31384332 2019
19
[Minimally Invasive Technologies in Surgery of the Chest Wall in Children]. 61
31747162 2019
20
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum. 61
31283647 2019
21
Acute anterior myocardial infarction with pectus carinatum. 61
31078109 2019
22
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
23
Demographic characteristics of pectus deformities across Turkey. 61
32551163 2019
24
Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta. 61
31218168 2019
25
Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. 61
30556322 2019
26
An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum. 61
30383585 2019
27
A Simplified Method for Three-Dimensional Optical Imaging and Measurement of Patients with Chest Wall Deformities. 61
30207836 2019
28
Abnormal response of costal chondrocytes to acidosis in patients with chest wall deformity. 61
30485799 2019
29
Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists. 61
31343132 2019
30
Successful Brace Treatment of Pectus Carinatum in Osteogenesis Imperfecta Using the Dynamic Compression System. 61
31908907 2019
31
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 61
30569521 2019
32
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. 61
30851722 2019
33
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
34
[Dynamic compression brace for pectus carinatum: 5 years on]. 61
30638003 2019
35
Long-Term Results of Compressive Brace Therapy for Pectus Carinatum. 61
30216948 2019
36
Combined extra-/intrathoracic correction of pectus carinatum and other asymmetric chest wall deformities : A novel technique. 61
30310933 2018
37
The prevalence of chest wall deformity in Turkish children 61
30541247 2018
38
Use of an Optical Scanning Device to Monitor the Progress of Noninvasive Treatments for Chest Wall Deformity: A Pilot Study. 61
30588447 2018
39
A new technique in complex chest wall reconstruction: Open reduction and internal fixation. 61
30270119 2018
40
Measuring the impact of brace intervention on pediatric pectus carinatum using white light scanning. 61
30257811 2018
41
Minimally invasive repair of pectus carinatum: a retrospective analysis based on a single surgeon's 10 years of experience. 61
30039204 2018
42
Bilateral single shot erector spinae plane block for pectus excavatum and pectus carinatum surgery in 2 pediatric patients. 61
29866441 2018
43
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. 61
30051459 2018
44
Minimally Invasive Repair of Pectus Carinatum: Bar Number and Technique. 61
29763598 2018
45
Pectus carinatum: Chest deformity. 61
30309076 2018
46
Minimally invasive repair of pectus carinatum by modification of the Abramson technique. 61
30302152 2018
47
Force required for correcting the deformity of pectus carinatum and related multivariate analysis. 61
29357992 2018
48
Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily. 61
29890445 2018
49
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. 61
29779902 2018
50
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. 61
30208878 2018

Variations for Pectus Carinatum

ClinVar genetic disease variations for Pectus Carinatum:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
2 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)SNV Pathogenic/Likely pathogenic 598959 rs1567263168 16:3779445-3779445 16:3729444-3729444
3 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe)SNV Likely pathogenic 374079 rs1057518881 15:48805853-48805853 15:48513656-48513656
4 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
5 COL5A2 NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)SNV Uncertain significance 598958 rs1559085751 2:189927925-189927925 2:189063199-189063199
6 46;XY;t(10;17)(p13;q23)dnTranslocation Uncertain significance 268030

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 collagen-containing extracellular matrix GO:0062023 9.33 FBN1 COL5A2 COL2A1
2 extracellular matrix GO:0031012 9.13 FBN1 COL5A2 COL2A1
3 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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