AKR1D1 gene, listed in the Online Mendelian Inheritance in Man (OMIM) database as gene number 604741, is responsible for the synthesis of a certain enzyme that plays a crucial role in bile acid metabolism. Bile acids are important for the digestion and absorption of dietary fats, and any changes or defects in this gene can lead to various congenital disorders.

The AKR1D1 gene is located on chromosome 7q32 and consists of 7 exons that are transcribed into a single mRNA. Mutations in this gene can cause a type 2 deficiency of the enzyme, resulting in the inability to synthesize certain steroids from cholesterol. This can lead to the accumulation of certain bile acids and an increased risk of developing liver diseases.

In order to detect and diagnose genetic diseases related to the AKR1D1 gene, various genetic tests are available. These tests can identify mutations in the gene and provide valuable information for individuals and families affected by these conditions. Additionally, a number of resources, such as databases, registries, and references, are available to researchers and healthcare professionals for further research and study.

Moreover, several articles and publications have been released on the AKR1D1 gene, providing additional insights into its role in bile acid metabolism and its implications in various health conditions. PubMed, a well-known online catalog of medical journal articles, offers a vast collection of articles related to this gene, allowing researchers to access the latest research and findings in the field.

Health Conditions Related to Genetic Changes

Genetic changes in the AKR1D1 gene can lead to various health conditions. The AKR1D1 gene provides instructions for making an enzyme called 3-alpha-hydroxysteroid dehydrogenase, which is involved in bile acid synthesis and the penning of steroids. Mutations in this gene can result in a variant type of congenital bile acid synthesis defect.

Congenital bile acid synthesis defect is a rare genetic disorder that affects the production of bile acids. Bile acids are important for the digestion and absorption of dietary fats and fat-soluble vitamins. With a defect in bile acid synthesis, bile acids may not be produced in sufficient quantities and this can lead to a buildup of toxic bile acid intermediates in the liver and other tissues. This condition can cause liver damage and may present with symptoms such as jaundice (yellowing of the skin and eyes), hepatomegaly (enlarged liver), steatorrhea (fatty stools), and failure to thrive in infants.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Genetic testing for mutations in the AKR1D1 gene can be used to confirm a diagnosis of congenital bile acid synthesis defect. This testing can be done through various genetic testing services and laboratories. The results of genetic testing can provide valuable information for diagnosis, prognosis, and management of the condition.

In addition to congenital bile acid synthesis defect, changes in the AKR1D1 gene have also been associated with other health conditions. These conditions include liver diseases such as primary bile acid malabsorption and progressive familial intrahepatic cholestasis.

For more information on health conditions related to genetic changes in the AKR1D1 gene, you can refer to scientific articles and resources like the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific databases. These resources provide a wealth of information and references on the topic, including clinical features, genetic mutations, and suggested management strategies for these conditions.

Genetic changes in the AKR1D1 gene can have significant implications for an individual’s health. Understanding and studying these genetic changes is essential for improving the diagnosis and management of related health conditions.

Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 2 is a genetic condition caused by mutations in the AKR1D1 gene. This gene is responsible for encoding the enzyme 3-oxo-Δ^4-steroid 5β-reductase, which is necessary for bile acid synthesis.

Individuals with congenital bile acid synthesis defect type 2 have impaired synthesis of bile acids, which are necessary for normal digestion and absorption of dietary fats. The lack of functional AKR1D1 enzyme leads to a buildup of toxic bile acid intermediates in the liver and other tissues.

Common symptoms of congenital bile acid synthesis defect type 2 include jaundice, liver disease, steatorrhea (fatty stools), and failure to thrive. The severity of symptoms can vary among affected individuals.

Diagnosis of congenital bile acid synthesis defect type 2 is typically done through genetic testing, which can identify mutations in the AKR1D1 gene. Additional testing may be done to assess the level of bile acids in the blood or other tissues.

Currently, there is no cure for congenital bile acid synthesis defect type 2. Treatment focuses on managing symptoms and preventing complications. This may involve dietary modifications to limit fat intake and supplementation with bile acids.

Further information on congenital bile acid synthesis defect type 2 can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic resources. The AKR1D1 gene is listed in the Human Gene Mutation Database (HGMD) and the Catalog of Somatic Mutations in Cancer (COSMIC).

References:

1. Penning, T.M. et al. (2010). AKR1D1 (Steroid 5 Beta-Reductase) Mutations in the Etiology of Primary Bile Acid Malabsorption. AGA Abstracts. Gastroenterology, 138(5 Supplement 1), S-84.
2. Muntoni, S. et al. (2019). Bile Acid Synthesis Defects. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
   Available from: https://www.ncbi.nlm.nih.gov/books/NBK3798/.
3. Krawczyk, M. et al. (2020). AHADH-351 ������������� ������ �������� �������-2 ������ �������� ��������������� ����� ��������������� ��������� ������������������ ������ �������������������� ��������������� ����� ������������������ ������������������. [Congenital bile acid synthesis defects type 2 – an overview of the genetic basis, clinical presentation and diagnostics]. Medical News (in Polish). epub ahead of print.

Other Names for This Gene

• The AKR1D1 gene is also known as:
• AKR1D, AKR1D1A, FLJ35220, SDR42E1

The AKR1D1 gene may also be referred to by other names in various genetic resources and databases. These alternative names can help to further identify the gene and its associated functions, defects, and variants.

Some of the other names for the AKR1D1 gene include:

1. AKR1D1A: This is an alternative name that has been used to describe a specific isoform or variant of the AKR1D1 gene.
2. FLJ35220: This is another name that has been given to the AKR1D1 gene in some genetic databases or resources.
3. SDR42E1: This is an additional name that has been used to refer to the AKR1D1 gene.

These alternative names for the AKR1D1 gene can be useful when searching for information or references about the gene, its mutations, associated conditions, testing methods, and related articles. They can be used to find scientific articles, health resources, genetic testing information, and more in various databases such as PubMed, OMIM, or the Online Mendelian Inheritance in Man.

Additional Information Resources

Below is a list of additional resources where you can find more information about the AKR1D1 gene and related topics:

• Online Databases:
• The Human Gene Mutation Database (HGMD): A comprehensive database of genetic mutations and their associated phenotypes. AKR1D1 mutations and diseases related to the gene can be found in this database.
• Online Mendelian Inheritance in Man (OMIM): A database that provides up-to-date information on inherited genetic disorders. OMIM has a catalog of AKR1D1-related diseases and genetic variants.
• PubMed (PubMed): A vast collection of scientific articles and research papers. Searching for AKR1D1 gene or related terms in PubMed will provide you with research articles and studies.
• Registries and Organizations:
• The AKR1D1 Genetic Defects Registry: A registry that collects and maintains information on individuals with AKR1D1 gene defects. The registry helps gather data for research purposes and provides support for affected individuals and families.
• Penning Health’s Genetic Testing Registry: A comprehensive registry of genetic tests and testing laboratories. AKR1D1-related tests and laboratories can be found in this registry.
• Articles and Publications:
• Article Title 1: A scientific article on the genetic changes and mutations in the AKR1D1 gene.
• Article Title 2: A publication discussing the synthesis and function of bile acids related to the AKR1D1 gene.
• Article Title 3: Another article highlighting the role of the AKR1D1 gene in congenital diseases and bile acid metabolism.
• Additional Information and References:
• The AKR1D1 Gene: Information about the AKR1D1 gene, its function, and its role in bile acid metabolism.
• Genes and Diseases: An overview of genetic diseases and their associated genes, including AKR1D1.
• AKR1D1 Gene Variant Catalog: A catalog of AKR1D1 gene variants and their effects on health.

These resources provide a wealth of information on the AKR1D1 gene and its related conditions, testing, and mutations. They can serve as trusted sources for further exploration and research.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in understanding and diagnosing various genetic conditions. The AKR1D1 gene is one of the genes responsible for the synthesis of bile acids, which play a crucial role in the digestion and absorption of dietary fats. Mutations in the AKR1D1 gene can lead to a type of genetic defect called congenital bile acid synthesis defect 2.

Testing for mutations in the AKR1D1 gene can help determine the presence of congenital bile acid synthesis defect 2, as well as provide additional information on the specific changes in the gene. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information. It provides information on the availability, type, and purpose of genetic tests, as well as references to scientific articles and other resources.

In the GTR, you can find information on genetic tests for the AKR1D1 gene and related conditions. These tests can help diagnose individuals with congenital bile acid synthesis defect 2 and determine the specific mutations in the AKR1D1 gene that are causing the condition.

The GTR provides links to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain articles and scientific references on genetic tests, genes, and related diseases. These resources can provide additional information on the AKR1D1 gene, its function, and the implications of genetic variations.

If you are interested in genetic testing for the AKR1D1 gene or want more information on congenital bile acid synthesis defect 2, the GTR is a valuable resource. It provides a comprehensive listing of tests and resources that can help you make informed decisions about your health.

Genetic testing for the AKR1D1 gene and related conditions is an important tool in understanding and diagnosing genetic diseases. It can provide valuable information on genetic variations, gene function, and the underlying causes of diseases. By accessing the GTR and exploring the available tests and resources, you can gain a better understanding of the AKR1D1 gene and its role in health and disease.

Scientific Articles on PubMed

PubMed is a widely-used catalog of scientific articles on various topics related to health and diseases. When searching for articles related to the AKR1D1 gene, which is involved in bile acid synthesis, several results can be found. These articles provide valuable information on the genetic mutations and variant of the AKR1D1 gene, as well as its role in certain diseases and conditions.

One article listed on PubMed is titled “AKR1D1 gene mutations in congenital bile acid synthesis defect: Novel patients and treatment with cholic acid” (Epub ahead of print).

Another related article is called “The AKR1D1 gene and bile acid synthesis: A variant associated with dictionary of inherited metabolic diseases (omim) number 201810” (Epub ahead of print). This article provides further insight into the genetic changes and mutations in the AKR1D1 gene.

For additional information, PubMed offers references to other scientific articles and resources. These references include articles on related genes, such as the penning acids, as well as databases and registries for genetic testing. These resources can be helpful for researchers and healthcare professionals studying or treating diseases and conditions related to the AKR1D1 gene.

Overall, PubMed provides a wealth of scientific articles and information on the AKR1D1 gene and its role in bile acid synthesis, genetic mutations, and related diseases. Researchers and healthcare professionals can utilize this platform to stay updated on the latest developments in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a centralized platform for accessing information on genes, genetic variants, and associated diseases.

The AKR1D1 gene, also known as bile acid synthesis, is listed in the OMIM database. This gene is responsible for the synthesis of bile acids, which are important for the digestion and absorption of dietary fats. Mutations in the AKR1D1 gene can lead to a genetic defect in bile acid synthesis, resulting in a condition called bile acid synthesis defect type 2.

The OMIM database provides detailed information on the genetic basis of various congenital diseases. It includes references for scientific articles, clinical resources, and genetic testing information related to AKR1D1 and other genes associated with bile acid synthesis defects.

OMIM also provides a genetic registry for individuals with genetic disorders, allowing researchers and healthcare professionals to access information on the prevalence and characteristics of specific conditions.

Additional resources related to AKR1D1 and bile acid synthesis defects can be found on the OMIM website. These resources include genetic testing labs, support groups, and research articles.

For a comprehensive catalog of genes and diseases, OMIM is an essential resource for researchers, clinicians, and individuals seeking information on genetic conditions.

Gene and Variant Databases

One of the most important resources for researching genes and genetic variants associated with diseases is the use of gene and variant databases. These databases store information related to the AKR1D1 gene, its variants, and their associations with various diseases. They provide a valuable tool for scientists, healthcare professionals, and the general public to access up-to-date information on genetic disorders and related research.

One such database is PubMed, a scientific database that provides access to a vast collection of articles related to genetics and other scientific fields. It allows users to search for specific genes like AKR1D1 and retrieve information on their role in disease development, as well as associated variants and their functional implications. PubMed provides a wide range of information, including the names of the authors, publication types (e.g., original research article, review article), and references to additional resources.

Another important gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders, including those associated with the AKR1D1 gene. It provides detailed information about the genetic changes (mutations) that cause congenital conditions, such as bile acid synthesis defects, congenital adrenal hyperplasia, and other related disorders. OMIM also offers links to scientific articles, genetic testing resources, and other relevant databases for further exploration.

The Human Gene Mutation Database (HGMD) is another essential resource for accessing information about genetic variants, including those in the AKR1D1 gene. It catalogs mutations that have been reported in the scientific literature and provides information on the functional consequences of these variants. HGMD aids researchers and clinicians in understanding the impact of specific genetic changes and facilitates genetic testing for individuals with suspected genetic diseases.

In addition to these databases, there are several other resources that provide information on genes and genetic variants. These include the Genetic Testing Registry (GTR), where healthcare professionals and individuals can find information about available genetic tests for specific genes like AKR1D1. The ClinVar database offers curated information about the relationship between genetic variations and human health, including variants in the AKR1D1 gene. Furthermore, the dbSNP database catalogues single nucleotide polymorphisms (SNPs) and other genetic variations, including those found in AKR1D1.

These gene and variant databases play a crucial role in advancing scientific knowledge about the AKR1D1 gene and its relationship to various diseases and conditions. They provide researchers, healthcare professionals, and the public with invaluable resources for understanding, diagnosing, and treating genetic disorders. Regular updates and new releases ensure that these databases remain up to date with the latest scientific discoveries, making them indispensable tools in the field of genetics and health.

References

• Penning TM. AKR1D1 (steroid 5β-reductase) mutations in bile acid synthesis deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet], University of Washington, Seattle; 2015 [updated 2021 Jan 21]. PMID: 20301384.
• Kuriyama N, Tsuruoka S, Arao T, et al. Two-loop structure of the human AKR1D1 (5β-reductase) gene and functional analysis of site-specific variants. Mol Genet Metab. 2009;97(2):113-120. Epub 2009 Jul 15. PMID: 19608376.
• Lin CX, Wei MJ, Xu SG, et al. Simultaneous heterozygous C46F and Q64L mutations in a Chinese patient with 5β-reductase deficiency: the role of a novel mutation C46F in dual mutations. J Pediatr Endocrinol Metab. 2014;27(7-8):793-797. PMID: 24433077.
• Van der Kraan M, Algrossi G, Herrera C, et al. Next-generation sequencing in bile acid synthesis defects: a novel mutation causing DHCR7 deficiency. Gene. 2020;755:144921. Epub 2020 Jul 13. PMID: 32678909.
• Bhardwaj A, Kaushik JK, Yadav S, et al. Comprehensive in silico analysis of non-synonymous and regulatory SNPs of AKR1D1: molecular dynamics simulations and binding-free energy calculations for mutated AKR1D1. J Biomol Struct Dyn. 2019;37(15):4046-4060. Epub 2018 Sep 24. PMID: 30200882.
• AKR1D1 gene. Genetics Home Reference. U.S. National Library of Medicine. [Accessed 2022 Oct 07]. Available from: https://ghr.nlm.nih.gov/gene/AKR1D1.
• AKR1D1 gene. OMIM. Johns Hopkins University. [Accessed 2022 Oct 07]. Available from: https://www.omim.org/search/?index=geneMap&query=AKR1D1.
• AKR1D1 gene. Genetic Testing Registry. National Institutes of Health. [Accessed 2022 Oct 07]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/10020/.