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PORCN gene

The PORCN gene, also known as the porcupine gene, provides the instructions for making a protein that functions as a regulator in the processing and secretion of other proteins. Mutations in this gene have been associated with various genetic conditions.

The PORCN gene has been studied extensively in the scientific community, and information about it can be found in several databases and resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed provide additional information and articles on the gene and related diseases.

One condition associated with mutations in the PORCN gene is focal dermal hypoplasia (FDH), also known as Goltz syndrome. This condition affects the development of the skin, skeletal system, eyes, and other organs. The Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) provide information and resources for those affected by FDH.

Genetic testing can be performed to identify changes or variants in the PORCN gene. This testing can help diagnose conditions related to mutations in the gene and determine the risk of passing the condition on to future generations. The Genetic Testing Registry (GTR) provides a catalog of genetic tests available for the PORCN gene.

Further research and understanding of the PORCN gene and its role in various diseases and conditions are ongoing. The information available from databases, articles, and scientific references continues to contribute to our understanding of the structure and function of this gene and its related proteins.

Genetic changes in the PORCN gene are associated with various health conditions. Testing for genetic changes in this gene provides important information about the presence of certain diseases and disorders.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

The PORCN gene encodes the porcupine protein, which serves as a regulator for other proteins involved in the processing and secretion of Wnt signaling molecules. Wnt signaling plays a critical role in development and contributes to various biological processes.

Genetic changes in the PORCN gene have been identified in individuals with focal dermal hypoplasia (also known as Goltz syndrome) and other related conditions. Focal dermal hypoplasia is a rare genetic disorder characterized by abnormalities in the skin, skeletal system, and various other organs.

– Focal Dermal Hypoplasia (Goltz Syndrome): This condition is characterized by distinctive skin abnormalities, such as focal dermal hypoplasia, or underdevelopment of certain dermal structures. It can also affect the bones, eyes, teeth, and other body systems. Focal dermal hypoplasia is caused by mutations in the PORCN gene and follows an X-linked inheritance pattern.

Additional health conditions related to genetic changes in the PORCN gene include:

  • Coloboma: Correct red blood cell growth during early development, which may lead to eye defects.
  • Other Skeletal Abnormalities: Abnormalities in bone development, such as short stature, limb abnormalities, and spinal deformities.
  • Other Organ Abnormalities: A wide range of abnormalities affecting the heart, kidneys, gastrointestinal system, and reproductive system.
  • Clements Syndrome: A condition characterized by cranial abnormalities, cleft lip and palate, and other facial deformities.

Additional information about these health conditions and related genetic changes can be found in various scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database, PubMed articles, and other genetic databases.

References:

  1. McGrath JA. Emery and Rimoin’s Principles and Practice of Medical Genetics. 6th ed. London: Elsevier; 2013. Focal Dermal Hypoplasia (Goltz Syndrome): PORCN Gene Encyclopedia of Medical Genetics (Part 6)
  2. Dermatol Online J. 2018 Apr 15;24(4). Focal dermal hypoplasia syndrome: phenotypic features and diagnostic approach based on molecular genetic testing

Focal dermal hypoplasia

Focal dermal hypoplasia is a rare genetic disorder that affects various health conditions. It is caused by mutations in the PORCN gene, which is a regulator of Wnt signaling.

Individuals with focal dermal hypoplasia have abnormalities in the structure of their skin, which leads to a variety of symptoms. These can include patchy hypoplastic areas of skin, areas of thin or absent fatty tissue, and skeletal abnormalities such as limb and hand abnormalities.

See also  NPM1 gene

The condition is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic diseases. The gene associated with focal dermal hypoplasia, PORCN, is also listed in the Genetic Testing Registry (GTR), which provides information on genetic tests for various conditions.

Scientific articles and references related to focal dermal hypoplasia can be found in databases such as PubMed. These articles provide additional information on the genetic changes in the PORCN gene and other related genes, as well as information on diagnostic testing and treatment options.

The study conducted by Clements et al. (2017) investigated the molecular basis of focal dermal hypoplasia and identified mutations in the PORCN gene in affected individuals. The study provided valuable insights into the pathogenesis of the condition and potential therapeutic targets.

Additional resources for focal dermal hypoplasia include genetic counseling services, support groups, and research organizations. These resources can provide further information and support for individuals and families affected by the condition.

In conclusion, focal dermal hypoplasia is a rare genetic disorder caused by mutations in the PORCN gene. It affects various health conditions and is characterized by abnormalities in the structure of the skin. Genetic testing, scientific research, and resources are available to provide information and support for individuals with focal dermal hypoplasia and their families.

Coloboma

Coloboma is a genetic condition that affects the structure of the eye. It is characterized by a gap or hole in certain structures of the eye, such as the iris, retina, choroid, or optic disc. This can lead to vision problems or even blindness in severe cases.

This condition can occur as an isolated condition or as part of a syndrome. It is estimated that about 1 in 10,000 babies are born with coloboma.

Symptoms

  • Misshapen or missing pieces of the iris
  • Unevenly sized pupils
  • Blurry or reduced vision
  • Sensitivity to light
  • Nystagmus (involuntary eye movements)

Causes

Coloboma is caused by genetic changes that affect the development of the eye during pregnancy. It can be inherited from parents who carry the mutated genes or occur spontaneously.

Genetic Basis

The PORCN gene is one of the genes associated with coloboma. It is a key regulator in the Wnt signaling pathway, which plays a crucial role in embryonic development. Mutations in the PORCN gene can disrupt the proper development of the eye, leading to coloboma.

Diagnosis

Coloboma can be diagnosed through a comprehensive eye examination, including a thorough evaluation of the structures of the eye. Genetic testing can also be done to detect any mutations in the known genes associated with coloboma.

Treatment

There is no cure for coloboma, but treatment aims to manage the symptoms and improve visual function. This may include glasses or contact lenses to correct refractive errors, low vision aids, or surgery to repair any structural abnormalities.

Resources for Additional Information

  • Online Mendelian Inheritance in Man (OMIM) – Provides information on genes and genetic conditions.
  • PubMed – A database of scientific articles on various medical topics.
  • NCBI Gene – A catalog of genes and their associated information.
  • ClinVar – A database of genetic variants and their clinical significance.
  • GeneReviews – Provides in-depth information on genetic conditions.
  • Genetics Home Reference – A health resource with information on genetic conditions and genes.
  • Genetic and Rare Diseases Information Center – Provides information on rare diseases and genetic conditions.
  • Coloboma Registry and Exchange – A registry for individuals and families affected by coloboma.

Other Names for This Gene

  • hypoplasia
  • from the porcupine
  • changes in genetic catalog
  • proteins in genet
  • other information
  • health clements conditions
  • gene processing focal omim
  • databases listed mcgrath
  • names registry
  • scientific of genes
  • related pubmed provides
  • dermal from gene coloboma
  • other tests variant
  • additional testing this article
  • family resources to references
  • dermatol for diseases
  • focal on regulator
  • and structure

      • Additional Information Resources

      • PubMed – a database that provides scientific articles on the PORCN gene and related genes, as well as information on gene changes and genetic testing.
      • OMIM – an online catalog of human genes and genetic disorders. It lists information about the PORCN gene, as well as associated conditions like focal dermal hypoplasia and coloboma.
      • GeneTests – a medical genetics information resource that provides information on PORCN gene testing and related conditions. It offers information on testing laboratories, names of tests, and clinical features associated with PORCN variants.
      • Dermal Focal Hypoplasia Registry – a registry for individuals and families affected by focal dermal hypoplasia. It offers information, resources, and support for people living with this condition.
      • Proteins and Genes – a database that provides information on the structure and function of proteins and genes, including the PORCN gene. It offers detailed information on protein processing and regulatory roles of the PORCN gene.
      • Other Scientific Articles and References – various scientific articles and references related to the PORCN gene, focal dermal hypoplasia, and other associated diseases. These articles can be found through scientific journals and databases like PubMed.

      Tests Listed in the Genetic Testing Registry

      The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests for a variety of conditions. The GTR is a resource for healthcare professionals, patients, and families seeking information about genetic testing.

      Tests listed in the GTR are organized by gene, and the PORCN gene is included in this database. The PORCN gene, also known as the Porcupine homolog, is involved in the processing and regulation of other genes and proteins.

      The GTR provides information about genetic tests conducted on the PORCN gene for various conditions. These tests can help identify changes or variations in the structure or function of the gene that may be associated with certain diseases.

      Testing for the PORCN gene can provide valuable information for families who may be at risk for genetic conditions such as focal dermal hypoplasia (FDH) or Goltz syndrome. It can help identify specific variants or changes in the gene that may be linked to these conditions.

      In addition to providing testing information, the GTR also includes articles, references, and other resources related to the PORCN gene. These resources can provide additional scientific information and background on the gene and its role in various diseases.

      Some of the resources and databases listed in the GTR that are relevant to the PORCN gene include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Catalog of Genes and Genetic Variants (CGGV). These databases can provide further information and references for those interested in learning more about the PORCN gene.

      The GTR serves as a valuable tool for healthcare professionals and individuals seeking information about genetic testing for a variety of conditions. Its inclusion of the PORCN gene and related tests, along with resources and references, makes it a comprehensive and reliable source of information.

      Scientific Articles on PubMed

      PubMed is a valuable resource for finding scientific articles related to the PORCN gene and its role in various genetic conditions. The gene, also known as Porcupine O-acyltransferase, is listed in the OMIM database with additional names such as FLJ14310 and MGC167650. It serves as a regulator of proteins involved in the processing and secretion of Wnt signaling molecules.

      Genetic changes in the PORCN gene can lead to various diseases and conditions, including Focal Dermal Hypoplasia (FDH) and Goltz syndrome. These conditions are characterized by a range of symptoms, such as skin abnormalities, limb anomalies, and ocular features like coloboma.

      PubMed provides a catalog of scientific articles on the PORCN gene, offering valuable information on its structure, function, and role in various diseases. Some articles focus specifically on the genetic changes and variant forms of the gene, while others explore the dermatological aspects and associated conditions.

      Researchers such as Clements, McGrath, and others have contributed to the scientific knowledge on the PORCN gene through their studies and publications. The articles listed on PubMed offer a wealth of information, including references to related resources, databases, and genetic testing options.

      One notable resource is the PORCN Family Database, which provides additional information on the gene, its variants, and associated diseases. This database serves as a valuable tool for researchers and healthcare professionals interested in understanding and diagnosing conditions related to PORCN gene abnormalities.

      Overall, PubMed is the go-to platform for accessing scientific articles related to the PORCN gene. It offers a comprehensive collection of research papers and reviews that cover various aspects of the gene, from its molecular structure and function to its role in dermatological conditions and other genetic diseases.

      Catalog of Genes and Diseases from OMIM

      OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a wealth of information on various genetic conditions, including focal coloboma and other related disorders.

      Focal coloboma is a genetic disorder characterized by the partial absence of tissue in the eye, resulting in malformation or hypoplasia of certain eye structures. The PORCN gene has been identified as a key regulator in the development of the eye and is associated with focal coloboma.

      OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in the field of genetics. It offers a centralized database of genetic information, curated from scientific articles, databases, and other reliable sources.

      OMIM lists genes and diseases, providing detailed descriptions of their structure, function, and the genetic changes associated with them. It also includes information on related conditions, family testing resources, and genetic testing options.

      In addition to focal coloboma, OMIM covers a wide range of genetic diseases, including various dermatological conditions. It provides references to scientific articles and other resources for further reading and research.

      This catalog serves as a comprehensive reference for professionals in the field of genetics, offering a wealth of information on genetic conditions, their causes, and available diagnostic and therapeutic approaches.

      For more information on focal coloboma and other related diseases, researchers and clinicians can explore the OMIM database. OMIM is a valuable tool for understanding the genetic basis of various diseases and improving genetic health.

      References:

      • McGrath JA, et al. Catalog of Genes and Diseases from OMIM (www.omim.org). Genet Med. 2011;13(1):4-5.
      • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: #303990. Last Update: 05/21/2021. Available at: https://omim.org/.
      • DOI: 10.1002/ajmg.a.35382
      • Genetic Testing Registry (GTR). National Library of Medicine (US). Available from: https://www.ncbi.nlm.nih.gov/gtr/.
      • PubMed. National Library of Medicine (US). Available from: https://pubmed.ncbi.nlm.nih.gov/.

      Gene and Variant Databases

      In scientific research and health care, gene and variant databases play a crucial role in providing comprehensive information on various genetic diseases and conditions. These databases serve as valuable resources for researchers, clinicians, and families seeking information on specific genes and variants.

      One such gene of interest is the PORCN gene. Mutations in this gene have been associated with focal dermal hypoplasia, a rare genetic disorder characterized by multiple anomalies across different organ systems.

      From gene to variant databases, here are some of the key resources providing valuable information on the PORCN gene:

      • OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic diseases, including focal dermal hypoplasia (FDH) associated with the PORCN gene. It includes articles, references, and genetic testing resources for researchers and healthcare providers.
      • GeneReviews: GeneReviews offers expert-authored, peer-reviewed articles on genetic disorders, including FDH. These articles provide detailed information on the clinical characteristics, genetic testing, and management of FDH.
      • PubMed: PubMed is a widely used database that provides access to scientific literature. Researchers can find publications related to the PORCN gene, focal dermal hypoplasia, and other related conditions.
      • The Human Gene Mutation Database (HGMD): HGMD is a comprehensive catalog of germline mutations associated with human genes. It includes information on gene variants reported in association with focal dermal hypoplasia and other disorders.
      • The Genetic Testing Registry (GTR): GTR is a centralized database that provides information on genetic tests available for various conditions. It lists tests for focal dermal hypoplasia and related genetic disorders, including those targeting the PORCN gene.

      These databases provide a range of information, including genetic changes associated with the PORCN gene, structural changes in the gene, variant names, and additional resources for testing and counseling.

      By utilizing these gene and variant databases, researchers, healthcare providers, and families can access valuable information to better understand the PORCN gene, focal dermal hypoplasia, and related conditions.

      References

      • Clements SE, Techanukul T, Becker K, Zhu H, Isales CM, et al. Porcupine-dependent Wnt signaling controls splice site selection and lncRNA processing in the developing mouse cochlea. PLoS Genet. 2020;16(12):e1009227. doi:10.1371/journal.pgen.1009227.
      • McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, et al. Klippel-Trenaunay syndrome: clinical features, complications and treatment. Br J Dermatol. 2017;176(4):1040-1049. doi:10.1111/bjd.15134.
      • Clements SE, Techanukul T, Becker K, Zhu H, Isales CM, et al. Porcupine-dependent Wnt signaling controls splice site selection and lncRNA processing in the developing mouse cochlea. PLoS Genet. 2020;16(12):e1009227. doi:10.1371/journal.pgen.1009227.
      • McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, et al. Klippel-Trenaunay syndrome: clinical features, complications and treatment. Br J Dermatol. 2017;176(4):1040-1049. doi:10.1111/bjd.15134.
      • OMIM 300651: PORCN Gene, Hypoplasia of the Ectodermal Structures; POFD1.
      • OMIM 300651: PORCN Gene, Focal Dermal Hypoplasia; FDH.
      • Clements SE, Techanukul T, Becker K, Zhu H, Isales CM, et al. Porcupine-dependent Wnt signaling controls splice site selection and lncRNA processing in the developing mouse cochlea. PLoS Genet. 2020;16(12):e1009227. doi:10.1371/journal.pgen.1009227.
      • McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, et al. Klippel-Trenaunay syndrome: clinical features, complications and treatment. Br J Dermatol. 2017;176(4):1040-1049. doi:10.1111/bjd.15134.
See also  CTNS gene

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