The PYCR1 gene is involved in the production of the pyrroline-5-carboxylate reductase 1 enzyme, which plays a crucial role in various cellular processes. Mutations in this gene have been linked to different genetic conditions, including Autosomal Recessive Cutis Laxa Type 2B (ARCL2B) and Maldergem Syndrome. These conditions are characterized by various health changes, such as loose and sagging skin, intellectual disabilities, and other developmental abnormalities.
Research articles on the PYCR1 gene and its role in different diseases can be found in scientific databases like PubMed and OMIM. These articles provide valuable information on the genetic variants associated with these conditions and the impact of PYCR1 gene mutations on the production and functioning of the pyrroline-5-carboxylate reductase 1 enzyme.
Testing for mutations in the PYCR1 gene can be done through genetic testing laboratories, and the results can help in confirming a diagnosis or assessing the risk of developing related conditions. Additionally, resources like the Online Mendelian Inheritance in Man (OMIM) catalog provide additional information and references on the PYCR1 gene, its variants, and related diseases.
The PYCR1 gene is just one of many genes identified in the development of Autosomal Recessive Cutis Laxa Type 2B and Maldergem Syndrome. Further research and understanding of this gene, along with other related genes, can help in the development of better diagnostic tests and treatment options for individuals affected by these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the PYCR1 gene (pyrroline-5-carboxylate reductase 1) are associated with several health conditions. These conditions are listed in the scientific databases such as PubMed and OMIM, and additional information can be found in the Genetic Testing Registry.
One of the health conditions related to changes in the PYCR1 gene is ArCL2B- Maldergem variant. This disease is characterized by cutis laxa (loose and sagging skin), intellectual disability, and delayed development. The variant in the PYCR1 gene can lead to the production of a faulty protein, causing these symptoms.
Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.
Genetic testing is available to detect changes in the PYCR1 gene and can be used to confirm a diagnosis. Healthcare providers can order these tests, which analyze the DNA sequence of the gene to identify variants or changes.
It is important to note that changes in other genes can also cause similar health conditions. Therefore, genetic testing may not solely rely on the PYCR1 gene but also include testing for other genes associated with the same or similar diseases.
References to articles and scientific papers related to PYCR1 gene changes and associated health conditions can be found in PubMed and other scientific databases. These resources provide further information and research in the field of genetics and related diseases.
Health Conditions Related to Genetic Changes in PYCR1 Gene:
| Condition Name | OMIM Number |
|---|---|
| ArCL2B- Maldergem variant of Cutis Laxa | -% |
-%: OMIM number not available
Cutis laxa
Cutis laxa is a rare genetic disorder related to the PYCR1 gene. It is also known as autosomal recessive cutis laxa type 2B (ARCL2B) or De Barsy syndrome.
Cutis laxa is characterized by loose and wrinkled skin, which is caused by a reduction in the amount of elastin, a protein that gives skin its elasticity. This condition affects connective tissues in other parts of the body, leading to various health problems.
Additional names for cutis laxa include wrinkly skin syndrome and pyrroline-5-carboxylate reductase 1 deficiency.
Genetic changes in the PYCR1 gene are responsible for cutis laxa. This gene provides instructions for producing the pyrroline-5-carboxylate reductase 1 protein, which is involved in the synthesis of proline, an amino acid important for collagen production.
Testing for cutis laxa can be done through genetic testing, which can detect changes in the PYCR1 gene. This information can be useful in diagnosing the condition and providing appropriate medical care.
References for cutis laxa can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic diseases, and the PubMed database contains scientific articles related to cutis laxa. Other sources, such as the Cutis Laxa International Register and the Cutis Laxa Research and Registry Group, also offer information and support for individuals affected by cutis laxa.
In summary, cutis laxa is a rare genetic disorder related to the PYCR1 gene. It is characterized by loose and wrinkled skin, and it can lead to various health problems. Genetic testing can be used to diagnose the condition, and there are resources available for additional information and support.
Other Names for This Gene
The PYCR1 gene is also known by several other names. Some of the other names for this gene include:
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C
- PROLINE DEHYDROGENASE 1; PRODH1
- PROLINE OXIDASE 1; POX1
- PYR
- PYCR
- PYCR1
- PYRROLINE-5-CARBOXYLATE REDUCTASE 1
These alternate names for the PYCR1 gene can be helpful when searching for additional information on this gene. They are often used in scientific articles, genetic testing, and registry resources. Some of the related conditions and diseases associated with changes in the PYCR1 gene include:
- Maldergem syndrome
- ARCL2B
- Lethal variant of cutis laxa type 2
References to articles and studies related to the PYCR1 gene can be found in scientific databases such as PubMed and OMIM. These resources provide valuable information on the genetic variants, health conditions, and testing options associated with this gene.
Additional Information Resources
If you want to learn more about the PYCR1 gene and related topics, the following resources may be helpful:
- Articles: There are numerous scientific articles available on the PYCR1 gene and its functions. These articles can provide in-depth information about the gene and its associations with various conditions.
- Tests: If you suspect that you or someone you know may have a genetic condition related to the PYCR1 gene, genetic testing can be done to confirm the diagnosis. Discuss this option with a healthcare professional.
- Pubmed: Pubmed is a comprehensive database of scientific articles and publications. Searching for “PYCR1 gene” or related terms can provide you with the latest research findings and studies on this topic.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic diseases. The PYCR1 gene and related conditions can be found in this database.
- Registry: The ARCL2B Registry is a resource dedicated to collecting and documenting information about individuals with ARCL2B, a condition associated with PYCR1 gene changes. Contact the registry for more information.
- Other Databases: There are other databases and resources available that provide information on genetic conditions and genes. These resources can help you learn more about the PYCR1 gene and its role in health and disease.
Keep in mind that the information provided in these resources may vary in terms of content and format. It is always recommended to consult with healthcare professionals and refer to scientific references to obtain accurate and up-to-date information on the PYCR1 gene and related topics.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a centralized resource for health professionals and researchers to access information on genetic tests and the genes that are related to them. The GTR includes tests for a variety of conditions, including those related to the PYCR1 gene.
The PYCR1 gene, also known as pyrroline-5-carboxylate reductase 1, is responsible for producing a protein that is involved in the synthesis of proline, an amino acid. Changes in this gene can lead to various health conditions, such as maldergem syndrome and pyrroline-5-carboxylate reductase deficiency.
In the GTR, there are several tests listed that are related to the PYCR1 gene. These tests can determine the presence of specific variants or changes in the gene that are associated with certain diseases or conditions. Some of the tests listed include:
- LAXA ARCL2B and MALDERGEM syndrome panel
- Next generation sequencing for maldergem syndrome type laxa
- Sequencing of the PYCR1 gene
Additional information on these tests, such as the laboratories that offer them and the specific diseases or conditions they are associated with, can be found in the GTR.
References to scientific articles, Pubmed, OMIM, and other databases are also provided in the GTR. These resources contain further information on the PYCR1 gene, related diseases, and genetic testing.
Overall, the Genetic Testing Registry serves as a valuable tool for accessing information on genetic tests and the genes they are associated with. It provides health professionals and researchers with a comprehensive catalog of tests for various conditions, including those related to the PYCR1 gene.
Scientific Articles on PubMed
PubMed is a database that provides access to a vast collection of scientific articles and references related to health, diseases, and genetics. It is a valuable resource for researchers, clinicians, and anyone interested in the latest scientific discoveries.
The PYCR1 gene, also known as pyrroline-5-carboxylate reductase 1, is associated with a variety of conditions and disorders. One such condition is De Barsy syndrome, also known as cutis laxa type 2B (ARCL2B). Mutations in the PYCR1 gene are responsible for this rare genetic disorder, which is characterized by loose and wrinkled skin, delayed development, and other health problems.
PubMed provides numerous scientific articles and studies on the PYCR1 gene and its association with different diseases. These articles provide valuable information on the variant types of the gene, the testing and diagnostic methods for related conditions, and the changes or mutations in the gene that lead to various disorders.
Researchers and clinicians can find additional information and resources on the PYCR1 gene by accessing the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues information on protein-coding genes, genetic conditions, and the associated phenotypes. It includes detailed descriptions, references to scientific papers, and links to related databases that can provide further insights into the gene and its functions.
By searching for “PYCR1 gene” in PubMed, you can find a wide range of scientific articles and studies that provide invaluable information on this gene and its role in different conditions. These articles can be used for research purposes, to stay updated on the latest discoveries, or for educational purposes in the field of genetics and genomics.
References:
- Gene: PYCR1 (PubMed)
- De Barsy syndrome, cutis laxa type 2B (ARCL2B) (OMIM)
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic conditions and related genes. This catalog includes information on the PYCR1 gene and its association with certain diseases.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive, regularly updated database of human genes and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.
The PYCR1 gene is associated with various diseases, including cutis laxa type 2B and Maldergem syndrome. Cutis laxa is a rare condition characterized by loose and sagging skin, while Maldergem syndrome is a genetic disorder that affects multiple systems in the body.
In the Catalog of Genes and Diseases from OMIM, the PYCR1 gene is listed with its corresponding OMIM entry number, which facilitates easy access to detailed information on the gene and its associated conditions.
Additional resources, such as references to scientific articles and databases like PubMed and Genetic Testing Registry, are provided for further exploration and verification of information.
This catalog serves as a valuable tool for researchers and healthcare professionals involved in genetic testing and studying genetic diseases. It enables them to access comprehensive information on genes, genetic variants, and associated diseases.
| Genes | Diseases | OMIM Entry Number | Additional Resources |
|---|---|---|---|
| PYCR1 | Cutis laxa type 2B, Maldergem syndrome | OMIM: 617131 |
|
The Catalog of Genes and Diseases from OMIM is constantly updated to incorporate new discoveries and advancements in the field of genetics. It serves as a reliable source of information for understanding the genetic basis of diseases and aids in the development of targeted therapies.
Gene and Variant Databases
A genetic variant is a change in the DNA sequence of a gene that can result in different traits or characteristics. Many genetic diseases are caused by variants in specific genes. PYCR1 is a gene that has been associated with several genetic conditions, such as Maldergem syndrome and ARCL2B.
Gene and variant databases provide valuable information on the different variants of a gene, their impact on health, and related scientific articles. These databases are essential resources for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and testing.
One of the most comprehensive gene and variant databases is PubMed. PubMed is a vast collection of scientific articles and references related to genes, genetic variants, and their impact on health. It provides information on PYCR1 gene variants, their association with different diseases, and the latest research in the field.
Other important databases include OMIM (Online Mendelian Inheritance in Man) and the GeneReviews catalog. OMIM provides detailed information on genes, genetic conditions, and their associated variants. The GeneReviews catalog offers expert-authored, peer-reviewed articles that provide in-depth information on specific genes and genetic conditions. Both resources are valuable for professionals and individuals seeking comprehensive information on PYCR1 and related genetic conditions.
In addition to these databases, there are also variant-specific databases that focus on specific genes or genetic conditions. The PYCR1 gene variant database provides curated information on the different variants of the PYCR1 gene, their impact on health, and associated diseases.
Genetic testing laboratories often use these databases to interpret the results of genetic tests. By comparing an individual’s genetic variants to the information in these databases, healthcare professionals can determine their potential impact on health and provide appropriate recommendations and counseling.
Overall, gene and variant databases play a crucial role in understanding the relationship between genetic variants, genes, and health. They provide valuable information on the different variants of the PYCR1 gene, their association with specific conditions, and the latest scientific research in the field.
References
- Gene Reviews: PYCR1-Related Cutis Laxa
- PubMed: PYCR1 gene
- OMIM: PYCR1
- Genetic Testing Registry: PYCR1
- ClinVar: PYCR1 gene
- Atlas of Genetics and Cytogenetics in Oncology and Haematology: PYCR1 Gene
- Human Phenotype Ontology: Cutis Laxa
- Online Mendelian Inheritance in Man (OMIM): PYCR1-Related De Barsy Syndrome
