The CDKN1C gene, also known as cyclin-dependent kinase inhibitor 1C, is located on chromosome 11p15.5. Mutations in this gene have been found to be associated with several conditions and syndromes, including Beckwith-Wiedemann syndrome, the IMAGe syndrome, and Silver-Russell syndrome.
The CDKN1C gene plays a crucial role in regulating cell growth and division. It acts as an inhibitor of cyclin-dependent kinases, impairing their function and preventing the progression of the cell cycle. Changes in the CDKN1C gene can lead to abnormal growth and development, including overgrowth in some tissues and organs.
CDKN1C gene mutations have been identified in individuals with Beckwith-Wiedemann syndrome, a condition characterized by overgrowth and various other anomalies. The gene has also been implicated in the development of intrauterine growth restriction and genital anomalies.
Scientific studies and research articles on CDKN1C gene and related conditions can be found in various databases and resources, including PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide valuable information and references for genetic testing and health conditions associated with CDKN1C gene mutations.
Testing for CDKN1C gene variants is available through commercial laboratories, and many tests include other genes in the 11p15 region. Additional genes listed in the Beckwith-Wiedemann syndrome registry are also included in some testing panels.
In conclusion, the CDKN1C gene is an important gene that regulates cell growth and division. Mutations in this gene have been associated with various conditions and syndromes, including overgrowth disorders. Testing for CDKN1C gene variants is available through various resources, providing valuable information for genetic analysis and related health conditions.
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Health Conditions Related to Genetic Changes
A gene is a specific sequence of DNA that carries information for the synthesis of a functional product, usually a protein. The CDKN1C gene, also known as cyclin-dependent kinase inhibitor 1C, is associated with various health conditions resulting from genetic changes.
The CDKN1C gene is involved in regulating cell growth and development, particularly during intrauterine life. Mutations or changes in this gene can lead to the development of certain conditions affecting different parts of the body.
One of the health conditions associated with changes in the CDKN1C gene is Beckwith-Wiedemann syndrome (BWS). BWS is a genetic disorder characterized by overgrowth and other symptoms, including an increased risk of various tumors. Genetic testing can help identify CDKN1C gene changes and confirm the diagnosis of BWS. References to the CDKN1C gene and BWS can be found in scientific articles and databases such as PubMed and OMIM.
Another condition related to genetic changes in the CDKN1C gene is adrenal hypoplasia congenita. This condition affects the development and function of the adrenal glands, leading to impaired hormone production. Genetic testing can identify CDKN1C gene variants that cause adrenal hypoplasia congenita.
In addition, changes in the CDKN1C gene have been associated with metaphyseal dysplasia. Metaphyseal dysplasia is a bone disorder characterized by abnormal growth of the metaphyses, the region of long bones near the growth plates. Genetic testing can help confirm the diagnosis of metaphyseal dysplasia in individuals with CDKN1C gene changes.
To learn more about how the CDKN1C gene and its changes are related to health conditions and their genetic testing, additional information and resources can be found in scientific articles, databases, and catalogs such as OMIM and PubMed.
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a genetic condition that is characterized by various related anomalies. It is named after the two scientists who first described it, Dr. James Beckwith and Dr. Bruce Wiedemann. BWS is caused by changes in the CDKN1C gene located on chromosome 11p15.5.
Individuals with BWS often exhibit overgrowth, congenital anomalies, and an increased risk of developing certain types of tumors. Some of the common clinical features of BWS include macrosomia (larger than average body size at birth), hemihypertrophy (asymmetric growth), ear creases or pits, and abdominal wall defects.
Diagnosis of BWS is based on clinical findings, and additional testing such as genetic tests can be done to confirm the diagnosis. There are various resources available for genetic testing, including scientific databases such as PubMed and OMIM. The Beckwith-Wiedemann Syndrome Registry and the Chromosome 11p15.5 Consortium are some of the registries and databases that provide information on genetic variants associated with BWS and other related conditions.
Management of individuals with BWS involves regular monitoring and screening for the associated conditions. This includes regular abdominal ultrasounds, blood tests, and evaluation of growth. Treatment options may vary depending on the specific manifestations and may involve surgical interventions, hormonal therapy, or other interventions as necessary.
In conclusion, Beckwith-Wiedemann syndrome is a complex genetic condition characterized by overgrowth and various related anomalies. The CDKN1C gene plays a key role in the regulation of cell growth and function. Diagnosis of BWS involves clinical evaluation and genetic testing, and management includes regular monitoring and treatment of associated conditions. There are several resources available for further information, including scientific articles, databases, and registries.
Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies
Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies is a rare genetic syndrome caused by changes in the CDKN1C gene. The CDKN1C gene is involved in regulating the growth and development of cells in the body. When there are changes in this gene, it can lead to various conditions and anomalies.
Patients with this syndrome typically have intrauterine growth restriction, which means they have a reduced rate of growth while in the womb. They may also have metaphyseal dysplasia, which is a skeletal disorder that affects the growth and development of bones. Adrenal hypoplasia congenita, where the adrenal glands are underdeveloped, and genital anomalies are also common features of this syndrome.
Research articles available from PubMed have identified several other genes that can cause similar conditions and may have overlapping symptoms with this syndrome. These genes include various names such as Vilain, Beckwith-Wiedemann syndrome, and Cubellis. Additional studies have indicated that the CDKN1C gene variant can impair the function of the inhibitor, resulting in overgrowth and related health problems.
The registry and catalog of genetic changes associated with this condition are available for researchers and clinicians. They can use these resources to study and diagnose patients with this syndrome. Genetic tests are often performed to identify changes in the CDKN1C gene and to confirm the diagnosis.
In conclusion, intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies is a rare genetic syndrome caused by changes in the CDKN1C gene. It is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies. Other genes have been identified that can cause similar conditions, and resources are available to study and diagnose patients with this syndrome.
Other Names for This Gene
The CDKN1C gene is also known by other names:
- IGF2AS (insulin-like growth factor 2 antisense)
- BWS (Beckwith-Wiedemann syndrome) candidate region 2
- WBS (Wilms tumor 2 suppressor)
- P57KIP2 (cyclin-dependent kinase inhibitor 1C)
- BWCR (Beckwith-Wiedemann critical region)
- WBSI (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome)
- WBSIAS (Wilms tumor, aniridia, genitourinary anomalie
Additional Information Resources
For additional information on the CDKN1C gene and related conditions, the following resources may be useful:
- The National Institutes of Health (NIH) provides detailed information on various genetic conditions, including CDKN1C-related disorders. Visit the Genetics Home Reference website for comprehensive information.
- The Online Mendelian Inheritance in Man (OMIM) database offers a catalog of human genes and genetic disorders. You can find detailed information on CDKN1C and related conditions on their OMIM page.
- The PubMed database provides scientific articles and research papers on the CDKN1C gene and associated disorders. You can search for relevant studies by visiting the PubMed website.
- The Registry and Genetic Testing at Children’s Hospital of Philadelphia provides information on genetic testing options for CDKN1C-related conditions. Visit their website for more details.
These resources offer a wealth of information on the CDKN1C gene, its function, and the various conditions associated with it. They can help individuals and healthcare professionals gain a better understanding of CDKN1C-related disorders and guide diagnosis and management decisions.
Tests Listed in the Genetic Testing Registry
Genital overgrowth, otherwise known as Beckwith-Wiedemann syndrome, is a condition caused by changes in the CDKN1C gene. The CDKN1C gene is involved in cell growth and inhibition, and when it is impaired, it can lead to abnormal growth in various parts of the body, including the genitals.
Genetic testing can be used to identify changes in the CDKN1C gene. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for this gene. These tests can help diagnose Beckwith-Wiedemann syndrome and other related conditions caused by CDKN1C gene variants.
Scientific articles available on PubMed and other related databases provide information on the various tests available for the CDKN1C gene. These articles describe the different genetic tests used to identify changes in this gene and provide references and additional information for further study.
The GTR lists tests for conditions related to CDKN1C gene variants, including intrauterine growth restriction, metaphyseal dysplasia, and adrenal hypoplasia. These tests can help diagnose and manage these conditions by identifying changes in the CDKN1C gene and understanding their impact on health and development.
The GTR catalog includes information on the function of the CDKN1C gene and how changes in this gene can lead to the overgrowth of cells in certain regions of the body. It also provides resources for genetic counselors and healthcare professionals, as well as information on other genes and conditions related to CDKN1C gene variants.
In conclusion, the Genetic Testing Registry provides a comprehensive list of tests available for the CDKN1C gene. These tests can help diagnose Beckwith-Wiedemann syndrome and other related conditions caused by CDKN1C gene variants. Understanding the genetic changes in this gene and their impact on health and development is crucial for effective management of these conditions.
Scientific Articles on PubMed
The CDKN1C gene is involved in the regulation of cell growth and division. Mutations in this gene have been associated with a number of genetic conditions and abnormalities, including genital and adrenal hypoplasia, genital dysplasia, and metaphyseal dysplasia.
In scientific articles listed on PubMed, researchers have studied the function of the CDKN1C gene and its variants in different conditions. These studies have explored how changes in the gene can affect cell function and lead to impairments in growth and development.
Some of the articles available on PubMed have focused specifically on the role of the CDKN1C gene in Beckwith-Wiedemann syndrome, a condition characterized by overgrowth and other health problems. These studies have examined the relationship between CDKN1C and other genes in this syndrome, and have provided valuable information for genetic testing and counseling.
Other scientific articles have investigated the function of the CDKN1C gene in intrauterine growth restriction and other related conditions. These studies have identified specific changes in the gene that may contribute to the development of these conditions, and have suggested potential therapeutic targets.
Researchers have also used databases such as OMIM and the Genetic Testing Registry to collect information on CDKN1C and its variants. These resources provide additional articles and references on the gene and related conditions, and can be valuable tools for researchers and healthcare professionals.
In conclusion, scientific articles on PubMed provide a wide range of information on the CDKN1C gene and its role in various genetic conditions. These studies have contributed to our understanding of how changes in the gene can lead to impairments in growth and development, and have provided insights into potential therapeutic interventions.