The ALDH18A1 gene, also known as the P5CS gene, codes for the enzyme pyrroline-5-carboxylate synthase. This enzyme is involved in the biosynthesis of proline, an amino acid essential for the normal functioning of many cellular processes.

Changes in the ALDH18A1 gene can lead to various hereditary conditions. One such condition is cutis laxa, a disorder characterized by loose and sagging skin. Another condition associated with ALDH18A1 gene mutations is spastic paraplegia type 9A (SPG9A), a neurodegenerative disorder that causes muscle stiffness and weakness in the legs. These conditions highlight the importance of the ALDH18A1 gene in maintaining proper health.

Scientific research has identified several variant forms of the ALDH18A1 gene that are associated with these disorders. Additional studies and gene testing are available to further investigate the specific genetic changes and determine their impact on protein activity. This information can then be used to develop targeted interventions and treatments for individuals with ALDH18A1 gene-related diseases.

References and resources on the ALDH18A1 gene can be found in various databases, including PubMed and OMIM. These databases provide access to scientific articles, genetic information, and other relevant resources for further understanding of the ALDH18A1 gene and its associated disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the ALDH18A1 gene can lead to a variety of health conditions. These changes can affect the type and activity of the protein produced by the gene, which can cause problems in various parts of the body.

One health condition related to genetic changes in the ALDH18A1 gene is pyrroline-5-carboxylate synthase (P5CS) deficiency. This autosomal recessive disorder is also known as cutis laxa, type 2C. Reduced activity of the ALDH18A1 gene leads to the decreased production of the P5CS protein, which is essential for the synthesis of the amino acid proline. As a result, individuals with this condition may experience problems such as loose and wrinkled skin, joint laxity, and clouding of the eyes.

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Another condition related to changes in the ALDH18A1 gene is spastic paraplegia 9A (SPG9A). This autosomal dominant disorder is characterized by progressive stiffness and weakness in the legs. Genetic changes in the ALDH18A1 gene can lead to the production of a variant of the ALDH18A1 protein that has altered function, resulting in the development of SPG9A.

Information on these and other health conditions related to the ALDH18A1 gene can be found in scientific articles, databases, and resources available online. The OMIM database, for example, provides detailed information on the genetic changes, associated symptoms, and inheritance patterns of these disorders. PubMed is a valuable resource for accessing abstracts and full-text articles related to the ALDH18A1 gene and its related health conditions.

Genetic testing can help identify changes in the ALDH18A1 gene and provide a diagnosis for individuals with suspected related disorders. In addition to genetic testing, clinical examination, medical history, and family history can also be considered in the diagnosis of these conditions.

References:

• OMIM database: ALDH18A1 gene
• PubMed: ALDH18A1 gene

Cutis laxa

Cutis laxa is a group of inherited connective tissue disorders that are characterized by loose, sagging skin and other associated problems. It can be caused by mutations in various genes, and one of the genes implicated is the ALDH18A1 gene.

Cutis laxa can be classified into different types, with one of them being spastic paraplegia type 9A (SPG9A). According to PubMed, ALDH18A1 gene mutations have been listed as one of the causes of hereditary spastic paraplegia, a neurological disorder.

Information on ALDH18A1 gene mutations and related conditions can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide abstracts, articles, and additional information on the genetic changes associated with cutis laxa and other related disorders.

In individuals with cutis laxa, reduced activity of the ALDH18A1 gene can lead to problems with the production of the protein pyrroline-5-carboxylate synthase (P5CS). This protein is involved in the synthesis of proline, an amino acid essential for the structure and function of connective tissues.

The resulting abnormalities in connective tissues can cause the characteristic skin laxity seen in cutis laxa. Additionally, other symptoms such as eye problems (including clouding of the eyes) and reduced lifespan may also occur.

Genetic testing is available for ALDH18A1 gene variants associated with cutis laxa. This testing can help in confirming a diagnosis and providing valuable information for management and genetic counseling.

References:

• Cutis laxa. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/cutis-laxa

• Cutis laxa. OMIM. Available at: https://www.omim.org/entry/123000

• Cutis laxa. Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0206083/

• ALDH18A1 gene. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/ALDH18A1

• Hereditary spastic paraplegia. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=hereditary+spastic+paraplegia

Other disorders

ALDH18A1 gene variants have been associated with several other disorders that affect different parts of the body. These disorders are each characterized by specific symptoms and may have overlapping features.

1. Cutis laxa: Some ALDH18A1 gene variants can lead to autosomal recessive cutis laxa (ARCL) type III, also known as de Barsy syndrome. This condition is characterized by loose and wrinkled skin, joint laxity, clouding of the eyes, and other health problems.

2. Spastic paraplegia: ALDH18A1 gene variants can also cause hereditary spastic paraplegia type 9A (SPG9A), a neurodegenerative disorder that affects the movement of the legs. This condition leads to progressive muscle weakness and stiffness, which can result in difficulty walking and other motor problems.

3. Pyrroline-5-carboxylate reductase deficiency: ALDH18A1 gene variants can result in a deficiency of pyrroline-5-carboxylate reductase (P5CR), an enzyme involved in the production of the amino acid proline. This deficiency leads to a rare metabolic disorder characterized by intellectual disability, seizures, and other developmental and neurological problems.

Information about these disorders can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and gene variant registries. Testing for ALDH18A1 gene variants is available in specialized laboratories that provide genetic testing services.

Additional resources and references for these conditions and related genes can be found in the catalog of articles and publications available on these databases.

Other Names for This Gene

• Catalog of Genetic Diseases and Variants in Cabbage
• Scientific Registry of Autosomal Laxa With Cutis Laxa
• SPG9A Hereditary Paraplegia Gene
• Pyrroline-5-carboxylate Synthetase-like Protein
• P5CS-related Protein

The ALDH18A1 gene is known by several other names, each highlighting a different aspect of its function and associated conditions. The gene is also found in various databases and resources under different names, making it important to collate and catalog the available information for comprehensive research and genetic testing.

One of the alternate names for this gene is “Catalog of Genetic Diseases and Variants in Cabbage.” This name reflects its significance in understanding and managing genetic disorders and variants in cabbage plants. Additionally, the gene is also referred to as “Scientific Registry of Autosomal Laxa With Cutis Laxa” due to its association with a condition characterized by lax skin.

Another alternate name for the ALDH18A1 gene is “SPG9A Hereditary Paraplegia Gene,” which refers to its role in hereditary paraplegia. This condition is characterized by paralysis or weakness in the lower limbs due to genetic mutations affecting the function of this gene.

The gene is also known as “Pyrroline-5-carboxylate Synthetase-like Protein” or “P5CS-related Protein” due to its similarity in function with pyrroline-5-carboxylate synthetase (P5CS). This enzyme is involved in the synthesis of the amino acid proline and plays essential roles in cellular metabolism and stress responses.

These are just a few of the names associated with the ALDH18A1 gene. Additional information about the gene, including its role in various health conditions, can be found in articles on PubMed and resources such as OMIM. Its association with other genes and potential changes in its activity may lead to the development of new treatments and therapies for diseases and disorders related to this gene.

Additional Information Resources

Additional information and resources related to the ALDH18A1 gene and its associated disorders are available for further reading and research. Here are some recommended resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, genes, and their associated phenotypes. It includes a summary of ALDH18A1-related disorders and references to relevant scientific articles. Access OMIM at www.omim.org.
• PubMed: PubMed is a widely used scientific database that indexes millions of articles from various biomedical journals. Searching for “ALDH18A1” or specific ALDH18A1-related disorders in PubMed can provide additional research articles and insights. Access PubMed at pubmed.ncbi.nlm.nih.gov.
• Genetics Home Reference: Genetics Home Reference offers consumer-friendly information on genetic conditions, genes, and proteins. It provides an overview of ALDH18A1-related disorders and the underlying genetic changes. Visit Genetics Home Reference at ghr.nlm.nih.gov.

There are also specific databases and registries dedicated to the ALDH18A1 gene and related disorders:

• ALDH18A1 Variant Database: The ALDH18A1 Variant Database collects and catalogs genetic variants within the ALDH18A1 gene. It includes information on different variants, their effects, and associated disorders. Access the ALDH18A1 Variant Database at www.ncbi.nlm.nih.gov/clinvar.
• Cutis Laxa Variant Database: The Cutis Laxa Variant Database is a comprehensive resource specifically focused on cutis laxa, a condition associated with ALDH18A1 gene mutations. It provides information on the specific gene variants found in patients with cutis laxa and related clinical data. Access the Cutis Laxa Variant Database at www.cutislaxavariables.org.
• SPG9A GeneReviews: The SPG9A GeneReviews page provides an in-depth review of hereditary spastic paraplegia type 9A (SPG9A), which is caused by mutations in the ALDH18A1 gene. It includes information on the clinical features, diagnosis, management, and genetic counseling for SPG9A. Read the SPG9A GeneReviews at www.ncbi.nlm.nih.gov/books/NBK1177.

These resources offer valuable information and can be used for further exploration and understanding of ALDH18A1 gene-related disorders, their causes, and associated genetic changes. They provide a starting point for researchers, healthcare professionals, and individuals interested in learning more about this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information on the available genetic tests for ALDH18A1 gene and other related genes. These tests can help in the diagnosis of various hereditary conditions and disorders.

Some of the tests listed in the GTR include:

• Autosomal recessive cutis laxa type 3A (ARCL3A): This test is used to identify changes in the ALDH18A1 gene that cause ARCL3A, which is a rare genetic disorder characterized by loose and sagging skin.

• Autosomal recessive spastic paraplegia type 9A (SPG9A): This test looks for changes in the ALDH18A1 gene that can lead to SPG9A, a hereditary condition that affects the nerves in the legs and causes progressive muscle stiffness and weakness.

• Other ALDH18A1-related disorders: This test is designed to identify changes in the ALDH18A1 gene that are associated with other conditions and disorders, such as clouding of the eyes, reduced intellectual ability, and other health problems.

Additional information and resources on genetic testing for ALDH18A1 gene can be found on the GTR website. The GTR catalog includes scientific articles, abstracts, and other references related to these genetic tests.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ALDH18A1 gene. Many publications listed on PubMed offer insights into the various disorders and conditions associated with this gene. Some of the key terms and concepts that can be found in these articles include:

• Death and type I hyperprolinemia.
• Hereditary cutis laxa.
• Pyrroline-5-carboxylate synthase deficiency.
• Genetic testing and variant analysis in ALDH18A1 gene-related disorders.
• Reduced enzyme activity of ALDH18A1 and its impact on health.
• Genes and proteins that interact with ALDH18A1.
• Autosomal recessive spastic paraplegia.
• Additional information and resources available through OMIM and other databases.

PubMed provides a catalog of articles that can help researchers and healthcare professionals understand the causes, symptoms, and management of diseases associated with the ALDH18A1 gene. These articles often discuss the molecular changes and functional consequences of ALDH18A1 gene mutations.

The information available on PubMed ranges from abstracts to full-length articles, and each source provides unique insights into the conditions and disorders associated with ALDH18A1 gene variations. Researchers can find references to related articles and additional resources in order to deepen their understanding of ALDH18A1 gene-related disorders.

Scientific articles on PubMed cover a wide range of topics, including the role of ALDH18A1 in eye problems, the genetic basis of diseases, and the testing methods available for detecting ALDH18A1 gene variants. The articles also provide information on how these disorders can lead to clouding of the eyes, among other symptoms.

In summary, PubMed offers a wealth of scientific articles and resources related to the ALDH18A1 gene and its associated disorders. Researchers and healthcare professionals can use this database to find information, references, and testing options for a better understanding and management of ALDH18A1 gene-related conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive registry of genes and diseases. It provides information on genetic conditions and the genes that are associated with them. OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM lists a wide range of diseases, each with its own unique set of symptoms and causes. The catalog includes both hereditary and non-hereditary conditions. For each disease, OMIM provides a detailed description of its clinical features, inheritance pattern, and the genes that are involved.

OMIM also provides information on genetic testing resources available for each gene. It lists laboratories and medical centers that offer testing for specific genes, as well as any other resources that may be useful for individuals seeking genetic testing or counseling.

The catalog includes detailed scientific articles and references related to each gene and disease. These articles are valuable sources of information for researchers and healthcare professionals looking to delve deeper into the genetic basis of a particular condition.

In addition to the information on individual genes and diseases, OMIM also provides resources for broader topics in genetics and genomics. It includes articles on genetic testing, ethical considerations, and advances in the field of genetics.

One gene listed in the OMIM catalog is the ALDH18A1 gene, which is associated with a rare autosomal recessive disorder called pyrroline-5-carboxylate reductase 1 deficiency. This disorder leads to reduced activity of the ALDH18A1 protein, which causes problems with the production of certain amino acids and the breakdown of others. Symptoms of this disorder include intellectual disability, joint laxity, and eye abnormalities.

OMIM offers a wealth of information on genes and diseases, making it a valuable resource for researchers and healthcare professionals. Its comprehensive catalog provides a centralized source of information on a wide range of genetic conditions and the genes that contribute to them.

Gene and Variant Databases

There are several gene and variant databases available for scientific testing and research. These databases provide comprehensive information on genes and their associated variants, which can be used to study the genetic basis of various diseases and disorders.

One such database is the ALDH18A1 gene registry. This registry lists the names of individuals who have been tested for variants in the ALDH18A1 gene. Variants in this gene can lead to changes in the protein it produces, which can cause health problems and lead to conditions such as cutis laxa and SPG9A paraplegia.

For additional information on the ALDH18A1 gene and its associated variants, researchers can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and Pubmed. These databases provide articles and abstracts on genetic research related to this gene, as well as references to other resources and databases.

Furthermore, there are databases that focus on specific variants and their effects. One example is the P5CS gene database, which provides information on genetic variants that affect the activity of the P5CS protein. Variants in this protein can lead to reduced activity of the P5CS enzyme, causing health problems such as pyrroline-5-carboxylate synthase deficiency.

Overall, gene and variant databases play a crucial role in understanding the genetic basis of diseases and disorders. Researchers can use these databases to explore the relationship between genes, variants, and various health conditions, facilitating further research and potential treatment options.

References

The following is a list of references related to the ALDH18A1 gene:

• SPG9A: This gene is also known as SPG9A and is associated with hereditary spastic paraplegia type 9A. It causes autosomal dominant spastic paraplegia, which is a genetic condition that leads to problems with walking and movement.

• Genetic Testing Registry: ALDH18A1 gene information is listed in the Genetic Testing Registry. This resource provides information on genetic tests for various diseases and conditions.

• OMIM: The ALDH18A1 gene is associated with the rare disease called SPG9A. OMIM is a catalog of human genes and genetic disorders and provides information on the genetic changes that cause these diseases.

• PubMed: PubMed provides access to abstracts and articles from scientific journals. There are several articles available on the ALDH18A1 gene and its role in the development of SPG9A.

• Protein Data Bank: The Protein Data Bank provides information on the 3D structure of proteins. The structure of the ALDH18A1 protein is available in this database.

• Additional Resources: There are other databases and resources available that provide information on the ALDH18A1 gene and related disorders. These include resources like Online Mendelian Inheritance in Man (OMIM) and various health websites.