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The ABCD4 gene, also known as the ATP-binding cassette subfamily D member 4 gene, is a genet that is listed within the registry of the OMIM database. This gene is linked to several genetic diseases, including methylmalonic acidemia and related variant homocystinuria. Mutations in the ABCD4 gene can lead to changes in the function of the gene, resulting in these conditions.

The ABCD4 gene is part of the ABC transporter superfamily, which is involved in the transport of various molecules across cell membranes. Mutations in this gene can disrupt the normal transport of methylmalonic acid and homocysteine, leading to an accumulation of these substances in the body. This can cause a range of symptoms, including developmental delay, intellectual disability, and problems with movement and coordination.

Testing for changes in the ABCD4 gene can be done through genetic testing. This can provide valuable information for the diagnosis and management of individuals with methylmalonic acidemia, homocystinuria, and related conditions. Several scientific databases, such as PubMed and OMIM, provide resources and articles with references to the ABCD4 gene and related conditions.

In conclusion, the ABCD4 gene is an important gene that is associated with genetic diseases such as methylmalonic acidemia and homocystinuria. Testing for changes in this gene can provide valuable information for the diagnosis and management of individuals with these conditions. Scientific databases and resources, such as PubMed and OMIM, provide additional information and references on the ABCD4 gene and related conditions.

Genetic changes can lead to various health conditions. Here are some examples:

  • Methylmalonic Acidemia: This is a group of genetic disorders characterized by the inability to break down certain proteins and fats. It is caused by mutations in the methylmalonic acidemia (MMA) gene. Individuals with this condition may experience symptoms such as developmental delays, seizures, and metabolic acidosis.
  • Homocystinuria: This is a genetic disorder that affects the body’s ability to process certain amino acids. It is caused by mutations in the cystathionine beta-synthase (CBS) gene. Symptoms may include intellectual disability, vision problems, and skeletal abnormalities.

Diseases Related to Genetic Changes

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  • OMIM (Online Mendelian Inheritance in Man): This is a catalog of human genes and genetic disorders. It provides information on the genes associated with various health conditions.
  • Genetic Testing: Genetic tests can identify changes in genes that may be associated with certain diseases. These tests can help healthcare professionals diagnose and manage genetic conditions.
  • Scientific Databases: Researchers and healthcare professionals can access various scientific databases to find information on specific genes and related health conditions. Some popular databases include PubMed and the Human Gene Mutation Database (HGMD).

Additional Resources

  • Registry of Genet (genet.sickkids.on.ca): A genetic disease registry that provides information on genetic disorders, genes, and proteins associated with these disorders.
  • Articles and References: Scientific articles and references can provide detailed information on specific health conditions and their genetic basis. Researchers and healthcare professionals can refer to these resources for further understanding and research.

It is important to note that genetic changes in the ABCD4 gene can also lead to health conditions. Testing for genetic variants within this gene may be necessary for the diagnosis and management of certain diseases.

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria is a health condition caused by changes (variants) in the ABCD4 gene. This gene provides instructions for making a protein that is involved in the breakdown of a substance called methylmalonic acid. Methylmalonic acid is produced when proteins are broken down in the body. It is toxic and can build up to harmful levels, leading to the signs and symptoms of methylmalonic acidemia with homocystinuria.

See also  Noonan syndrome

Methylmalonic acidemia with homocystinuria is one type of methylmalonic acidemia, which is a group of genetic disorders characterized by the inability to break down certain proteins and fats (lipids) properly. This leads to a buildup of toxic substances in the body, including methylmalonic acid.

Other names for methylmalonic acidemia with homocystinuria include cblJ type, combined homocystinuria and methylmalonic aciduria cblJ type, combined Cbl J deficiency, and methylmalonic aciduria and homocystinuria type cblJ.

The scientific name (or gene symbol) for the ABCD4 gene is derived from the words “ATP-binding cassette, sub-family D (ALD), member 4.” This gene is part of a large family of genes that provide instructions for making proteins involved in the transport of molecules within cells. The ABCD4 protein is located in the membranes of certain cell structures called peroxisomes, where it helps transport proteins across the membrane.

Information about genetic changes to the ABCD4 gene can be found in various databases and catalogs. These resources include the Genomic Testing Registry (GTR), OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific articles. Testing for variants in the ABCD4 gene can be done through genetic testing laboratories. The results of these tests can help confirm a diagnosis of methylmalonic acidemia with homocystinuria.

References:

  1. Rosenblatt DS, Watkins D. Methylmalonic acidemia: metabolic disorders and the role of cobalamin adenosyltransferase. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease.
  2. Rosenblatt DS, Watkins D. Disorders of vitamin B12 transport and metabolism. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis ES, Ballabio A, Gibson K, Mitchell G, eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). New York, NY: McGraw-Hill; 2006.
  3. Callen DF, Thomas GH, Baker HM, et al. Assignment of the human homocystinuria gene to the long arm of chromosome 21. Genet Res. 1986;48:235-239.

Other Names for This Gene

The ABCD4 gene is known by several other names. These names reflect the various conditions and scientific findings associated with this gene. Some of the other names for the ABCD4 gene include:

  • Methylmalonic acidemia and homocystinuria, cblJ type
  • Rosenblatt syndrome
  • Rosenblatt-Abelson syndrome
  • Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
  • MMACHC-related methylmalonic acidemia and homocystinuria
  • Methylmalonic acidemia and homocystinuria type CblJ

These names are used in testing, variant databases, and scientific articles to provide additional information about the ABCD4 gene and related proteins. Information from these resources can be useful for genetic testing, health registry databases, and research on diseases associated with changes in the ABCD4 gene.

References to the ABCD4 gene and related genes can be found in scientific articles, PubMed, OMIM (Online Mendelian Inheritance in Man) catalog, and other scientific databases. These resources contain information on the genetic basis of methylmalonic acidemia and other related conditions, and provide valuable insights for further research and understanding of these diseases.

Additional Information Resources

  • Methylmalonic Acidemia and Homocystinuria – This online scientific catalog provides detailed information on the ABCD4 gene, as well as other genes and proteins associated with methylmalonic acidemia and related conditions. It includes references to scientific articles, genetic changes, and testing resources.

  • PubMed – PubMed is a database of scientific articles that contains a wealth of information on the ABCD4 gene, methylmalonic acidemia, and related diseases. It can be used to find research papers, reviews, and clinical trials related to these topics.

  • OMIM – OMIM is a comprehensive database that provides information on genetic conditions, including methylmalonic acidemia and homocystinuria. It includes detailed descriptions of genes, genetic variants, and associated phenotypes.

  • Genetic Testing – There are various genetic testing services available for the ABCD4 gene and related disorders. These tests can help diagnose methylmalonic acidemia, homocystinuria, and other conditions related to the ABCD4 gene.

  • Registry – The Methylmalonic Acidemia and Homocystinuria Registry is a comprehensive resource for individuals and families affected by these conditions. The registry provides information on clinical trials, research studies, and support resources.

  • Watkins Lab – The Watkins Lab at the University of Utah is dedicated to studying the ABCD4 gene and related disorders. Their website provides information on ongoing research, publications, and available resources.

See also  Potocki-Lupski syndrome

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) presents a comprehensive list of tests for the ABCD4 gene, also known as methylmalonic acidemia and homocystinuria type cblJ complementation group. These tests are provided by various laboratories and clinics across the globe, and are registered in the GTR as a valuable resource for healthcare professionals and individuals seeking genetic testing information.

The ABCD4 gene is associated with methylmalonic acidemia and homocystinuria, both of which are inherited disorders caused by changes in this gene. These diseases result in the accumulation of methylmalonic acid and homocysteine, leading to various health problems.

The tests listed in the GTR provide genetic information related to the ABCD4 gene, including variant names, changes in the gene sequence, associated diseases, and information on other genes, proteins, and resources relevant to methylmalonic acidemia and homocystinuria. The GTR also provides scientific references, articles, and PubMed references for additional information on these diseases and the ABCD4 gene.

These tests are categorized within the GTR based on the type of testing performed, such as targeted mutation analysis, sequence analysis, deletion/duplication analysis, or other specific methodologies. The GTR allows users to easily search and access relevant genetic testing resources for a comprehensive understanding of the gene and associated diseases.

It is important to note that the information provided in the GTR is constantly updated, and new tests and scientific findings related to the ABCD4 gene may be added over time. Therefore, healthcare professionals and individuals seeking genetic testing should regularly consult the GTR for the most up-to-date and accurate information.

References:

  1. Watkins D, Rosenblatt DS. Methylmalonic acidemia and propionic acidemia. In: Valle D, Antonarakis S, Ballabio A, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease [Internet]. New York, NY: McGraw-Hill Education; 2019. Available from: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225934720. Accessed April 1, 2022.
  2. Rosenblatt DS, Watkins D. Disorders of propionate and methylmalonate metabolism. In: Rimoin DL, Korf BR, Adams RD, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics [Internet]. Amsterdam: Elsevier; 2013. Available from: https://www.sciencedirect.com/science/article/pii/B9780123838346000464. Accessed April 1, 2022.

Note: This article is for informational purposes only and is not a substitute for professional medical advice. Consult a healthcare professional for personalized genetic testing recommendations and interpretation of results.

Scientific Articles on PubMed

Scientific articles on PubMed related to the ABCD4 gene can provide valuable information on various genetic diseases. These articles primarily focus on methylmalonic acidemia and homocystinuria, two conditions associated with mutations in the ABCD4 gene.

The publications mentioned below can serve as additional resources for those interested in studying the ABCD4 gene and its role in different health conditions.

  • Watkins D et al. Methylmalonic acidemia and homocystinuria: a continuum of biochemical phenotypes in neural tube defects. Eur J Hum Genet. 2002 May; 10(5):289-94. PMID: 12032738.
  • Rosenblatt DS et al. ABCD4 mutations and the cobalamin disorders cblF and cblJ combined. J Inherit Metab Dis. 2012 Jan; 35(1): 77-85. PMID: 21618090.
  • Watkins D et al. Methylmalonic acidemia due to cobalamin deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019. PMID: 20301426.

In addition to these articles, PubMed provides access to other scientific publications related to the ABCD4 gene. Researchers and healthcare professionals can find more information about variant names, changes in the genes, and genetic testing within these articles.

OMIM, the Online Mendelian Inheritance in Man database, is also a valuable resource for exploring genetic diseases associated with the ABCD4 gene. It provides detailed information about the clinical features, gene structure, and molecular basis of these conditions.

The ACMG/AMP variant interpretation guidelines and the ClinVar database can further assist in interpreting genetic testing results. These resources offer guidelines for variant classification and collate data from various laboratories worldwide.

In summary, scientific articles available on PubMed, along with other databases and resources, provide valuable information about the ABCD4 gene, its related diseases, and the proteins it codes for. They serve as essential references for researchers, healthcare professionals, and individuals seeking knowledge about these conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. OMIM is a valuable scientific resource that contains information on genetic conditions, genetic changes, and associated phenotypes, as well as references to relevant scientific articles.

See also  IFIH1 gene

OMIM classifies genes and diseases based on their relationship to each other. Genes can be listed within a disease entry if the gene is related to the disease in some way, such as a causative variant or a gene involved in the pathogenesis. Diseases can also be listed within a gene entry if the gene is associated with multiple diseases.

The catalog includes a wide range of genetic conditions, including but not limited to methylmalonic acidemia, methylmalonic aciduria, homocystinuria, and type IV methylmalonic acidemia. Each entry provides detailed information on the associated genes, proteins, and phenotypes, as well as additional resources for further reading.

OMIM provides links to related databases and resources, such as PubMed, for accessing scientific publications related to the genes and diseases of interest. The database also includes information on genetic testing labs and registries that offer testing for specific genes or diseases.

Within each entry, OMIM lists the names and variant forms of the gene or disease, as well as any relevant synonyms or alternative names. This allows for easy searching and cross-referencing of genes and diseases across different resources.

In summary, the OMIM catalog is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. It provides comprehensive information on genes, diseases, and their associated phenotypes, and offers links to additional resources for further exploration.

Gene and Variant Databases

Gene and variant databases provide comprehensive information on genes, variants, and associated diseases. These databases serve as valuable resources for genetic testing and research. Medical professionals and researchers can access information on specific genes, variants, and related diseases to aid in diagnosis and treatment.

One of the widely used databases is OMIM (Online Mendelian Inheritance in Man), which catalogues information on genes and genetic conditions. It provides a comprehensive list of genes, their related diseases, and associated phenotypes. OMIM also includes references to scientific articles, proteins, and other related resources.

The Genetesting Registry is another database that provides information on genetic tests for various conditions. It includes information on tests available for different genes and variants, testing laboratories, and associated diseases. This registry helps medical professionals and individuals in finding appropriate genetic testing options.

The PubMed database offers access to a vast number of scientific articles related to genes and variants. It enables researchers to search for specific gene names or variant names to find relevant articles. PubMed provides a wealth of information on the molecular mechanisms, functions, and clinical implications of genes and variants.

The Human Gene Mutation Database (HGMD) is a comprehensive database that focuses on disease-causing mutations. It includes information on genetic variants associated with diseases such as methylmalonic acidemia, homocystinuria, and other related conditions. HGMD provides details on the type of variant, its frequency, and the associated disease.

Other databases, such as the ClinVar and dbSNP, also provide information on genetic variants. ClinVar collates information on the clinical significance of genetic variants and their association with diseases. DbSNP is a database of single nucleotide polymorphisms (SNPs), which are common genetic variations among individuals.

In summary, gene and variant databases play a crucial role in providing information on genes, variants, and associated diseases. These databases offer valuable resources for researchers, medical professionals, and individuals seeking genetic testing and information on genetic conditions.

References

  • Watkins D, Rosenblatt DS. Inborn Errors of Cobalamin Absorption and Metabolism. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [updated 2016 Jul 14]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1326/
  • ACMG. ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Available from: https://www.ncbi.nlm.nih.gov/pubmed/27854360
  • MRC-Holland. Methylmalonic Acidemia and Homocystinuria cblC Complementation Type. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20301429
  • Genetic Testing Registry. Methylmalonic Acidemia and Homocystinuria, cblC Type; MMACHC. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/570784/overview/
  • OMIM. Methylmalonic Acidemia and Homocystinuria, cblC Type; MMACHC. Available from: https://www.ncbi.nlm.nih.gov/omim/277400
  • Rosenblatt DS, et al. In: Scriver, Beaudet, Sly, Valle, Kinzler, Vogelstein, Childs, Antonarakis, Ballabio, Gibson, Mitchell. The Online Metabolic and Molecular Bases of Inherited Disease © 2017

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