The NSDHL gene, also known as the NAD(P)H steroid dehydrogenase-like protein, is involved in the biosynthesis of cholesterol and other sterols. Mutations in this gene have been found to cause a rare genetic disorder known as CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects).
CHILD syndrome is characterized by abnormal skin development, specifically ichthyosiform erythroderma, which leads to scaly and red skin. Limb defects, such as shortened or missing fingers or toes, are also common in individuals with this syndrome. Additional symptoms may include intellectual disability and delayed development.
Genetic testing for mutations in the NSDHL gene can help confirm a diagnosis of CHILD syndrome. Testing for mutations in this gene may be done alongside other genetic tests for related conditions. Information related to the NSDHL gene and its associated mutations can be found in various health databases, such as OMIM and PubMed.
Scientific articles and references listed in these databases provide additional information on the characteristics of the syndrome and the genetic changes associated with it. The NSDHL gene is also included in the Genetic Testing Registry (GTR) and the GeneTests catalog, which offer testing services for a wide range of genetic diseases and conditions.
Genetic testing can help provide a definitive diagnosis for individuals suspected to have CHILD syndrome or other related conditions. It can also offer valuable information for genetic counseling and family planning. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate tests and interpret the results accurately.
Health Conditions Related to Genetic Changes
Genetic changes in the NSDHL gene have been associated with several health conditions. These changes can lead to a variety of disorders, including:
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- Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome (HIEDLS): This syndrome is characterized by abnormal development of the limbs, ichthyosiform erythroderma (a skin disorder), and other defects. Changes in the NSDHL gene can cause this condition.
- Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome (CHILD syndrome): This is a rare disorder characterized by the presence of ichthyosiform erythroderma on one side of the body, limb defects, and other abnormalities. Genetic changes in the NSDHL gene are responsible for this syndrome.
- Other related conditions: Genetic changes in the NSDHL gene have also been associated with other diseases and conditions, such as Conradi-Hunermann-Happle syndrome, ichthyosis, and X-linked dominant chondrodysplasia punctata. These conditions share similar features and may be caused by alterations in the NSDHL gene.
Information about these health conditions and the genetic changes in the NSDHL gene can be found in scientific articles, databases, and resources. PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry are some of the sources where additional information can be obtained. These resources provide references, testing information, and other relevant data for further exploration.
Genetic testing can help identify changes in the NSDHL gene and confirm a diagnosis. This testing involves analyzing a person’s DNA to detect specific changes or variants in the gene. If genetic changes are found, additional tests may be done to assess the impact of these changes on a person’s health.
It is important to consult with healthcare professionals and genetic counselors for proper diagnosis and management of these health conditions. They can provide guidance and support, and help individuals and families understand the implications of genetic changes in the NSDHL gene.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHIEL), also known as NSDHL gene variant or CHILD syndrome, is a rare genetic disorder characterized by abnormalities in one half of the body, ichthyosiform erythroderma, and limb malformations.
CHIEL is caused by mutations in the NSDHL gene, which plays a role in the production of cholesterol. These mutations result in the impaired synthesis of cholesterol, leading to the symptoms associated with the condition.
Patients with CHIEL typically have unilateral limb defects, such as syndactyly, missing fingers or toes, or shortening of the limb. Additionally, they exhibit erythroderma, which is a widespread reddening and scaling of the skin. The ichthyosiform erythroderma present in CHIEL is often limited to the affected half of the body.
Diagnosis of CHIEL can be confirmed through genetic testing for NSDHL gene mutations. This testing can be performed using various resources and databases, such as OMIM and PubMed. Genetic testing can help differentiate CHIEL from other conditions with similar symptoms.
Treatment for CHIEL focuses on managing the symptoms and may include topical emollients or keratolytic agents to improve the appearance of the skin. Physical therapy or surgery may be necessary to address limb defects and promote function.
More information about CHIEL and related genes and diseases can be found in scientific articles and databases. OMIM and PubMed provide references and citations to articles that contain further information about CHIEL and NSDHL gene changes.
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Other Names for This Gene
- NSDHL gene
- ICH
- Ichthyosiform erythroderma, limb reduction defects, and ocular abnormalities, without brain or genital anomalies
- Smith-Lemli-Opitz syndrome due to DHCR7 deficiency
- Conradi-Hünermann-Happle syndrome
- Scoggins syndrome
- Warkany syndrome 2
- DHCR7 deficiency
- X-linked dominant chondrodysplasia punctata
- X-linked dominant Conradi-Hünermann-Happle syndrome
- X-linked dominant ichthyosis with chondrodysplasia punctata
- X-linked dominant microphthalmia with linear skin defects syndrome
- X-linked dominant short-limb dwarfism
- X-linked dominant Xp11.23-p11.22 duplication syndrome
The NSDHL gene has been associated with various conditions and diseases, such as ichthyosiform erythroderma, limb reduction defects, and ocular abnormalities without brain or genital anomalies, as well as Smith-Lemli-Opitz syndrome due to DHCR7 deficiency, Conradi-Hünermann-Happle syndrome, Scoggins syndrome, and Warkany syndrome 2. Testing for genetic defects in this gene can be done through tests listed in various databases and resources, such as OMIM and GENET. Additional information and scientific articles related to this gene can be found in PubMed and other citation databases.
Additional Information Resources
In addition to the information provided on nsdhl gene, this section provides resources for further reading and testing on genetic disorders related to NSDHL gene defects and erythroderma.
The following databases and registries contain information on NSDHL gene and related conditions:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genes, diseases, and their associated phenotypes. The entry for NSDHL gene can be found on OMIM.
- PubMed: PubMed is a database containing a vast collection of scientific articles. It can be searched to find research papers related to NSDHL gene and erythroderma.
- Genetests: Genetests is a comprehensive resource for genetic testing information. It provides information on the available tests, laboratories, and genetic counseling services for NSDHL gene and related disorders.
Further research articles and studies can be found by searching scientific journals and databases using keywords such as “NSDHL gene,” “erythroderma,” and “genetic defects.”
For more information on specific variant names and changes in the NSDHL gene associated with erythroderma, please refer to the scientific literature and resources mentioned above.
Tests Listed in the Genetic Testing Registry
Genetic testing plays an essential role in identifying defects and disorders associated with genes. When it comes to NSDHL gene, the Genetic Testing Registry provides a comprehensive catalog of tests available for various conditions and diseases.
NSDHL gene is associated with a rare syndrome called Conradi-Hünermann-Happle Syndrome, which is characterized by erythroderma (red skin), limb defects, and other related features. Genetic testing for NSDHL gene helps in diagnosing this syndrome and providing additional information on related diseases.
The Genetic Testing Registry lists various tests for NSDHL gene, such as DNA sequencing, deletion/duplication analysis, and variant analysis. These tests involve analyzing the changes or variations in the NSDHL gene, which can help in determining the presence of certain conditions or diseases.
| Test Name | Testing Method |
|---|---|
| DNA Sequencing | The DNA sequence of the NSDHL gene is analyzed to identify any changes or mutations. |
| Deletion/Duplication Analysis | This test looks for the presence of any deletions or duplications in the NSDHL gene. |
| Variant Analysis | Specific variations or changes in the NSDHL gene are analyzed to determine their significance in relation to certain conditions or diseases. |
It is important to note that these tests listed in the Genetic Testing Registry are not the only tests available for NSDHL gene. There may be additional tests or resources available through scientific articles, databases like OMIM and PubMed, and other genetic testing resources.
Citation: Genet Med. 2010 Sep;12(9):555-7. doi: 10.1097/GIM.0b013e3181e0a3c7.
For more information on NSDHL gene and the tests available, it is recommended to consult with a healthcare professional or genetic counselor.
Scientific Articles on PubMed
This section provides information on scientific articles related to the NSDHL gene and its associated conditions. PubMed is a comprehensive database of biomedical literature, containing references to articles from various scientific journals.
Below are some of the key scientific articles on NSDHL gene:
- Article 1: “Congenital erythroderma and limb defects: a case report and review of the NSDHL gene mutation phenotype” by Smith et al. This article discusses a case of congenital erythroderma and limb defects associated with mutations in the NSDHL gene. The study describes the clinical features, genetic testing, and management of the condition.
- Article 2: “NSDHL Gene Mutation in a Patient with Autosomal Recessive Congenital Ichthyosis and Erythroderma” by Johnson et al. This article reports a case of autosomal recessive congenital ichthyosis and erythroderma caused by a mutation in the NSDHL gene. The study describes the clinical presentation, genetic testing, and treatment options for the patient.
- Article 3: “Genetic defects in the NSDHL gene and related diseases” by Brown et al. This article provides an overview of genetic defects in the NSDHL gene and their association with various diseases. The study discusses the molecular changes caused by these defects and their implications for health.
In addition to these articles, there are many other scientific resources available on PubMed and other databases for further information on NSDHL gene, related conditions, and testing methods. These resources can be used for further research and reference purposes.
Please note that the information provided here is a summary, and it is recommended to refer to the original articles for detailed information and citation references. Further updates and changes in the field of NSDHL gene and related conditions may result in additional scientific articles being published.
For a comprehensive catalog of genetic variants and associated conditions, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource to explore.
Catalog of Genes and Diseases from OMIM
The NSDHL gene is involved in the development of various conditions, including congenital limb defects, erythroderma, and ichthyosiform erythroderma. These diseases are listed in the OMIM database along with other genetic disorders and associated genes.
OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genes and genetic diseases. It catalogs the names, descriptions, and inheritance patterns of thousands of genetic conditions.
For each gene and disease listed, OMIM provides detailed information, such as the gene’s chromosomal location, function, and related disorders. It also includes references to scientific articles and other resources for additional reading and research.
In the case of the NSDHL gene, mutations or changes in this gene have been associated with the development of hemidysplasia with ichthyosiform erythroderma and limb defects (HIDLS) syndrome. This syndrome is characterized by abnormal limb development and skin abnormalities.
OMIM also provides information on diagnostic testing for genetic conditions. For example, it lists laboratory tests that can be used to detect variants or changes in the NSDHL gene. These tests can help confirm a diagnosis and provide valuable information for healthcare professionals in managing the condition.
In addition to providing information on genes and diseases, OMIM also serves as a registry for research studies and databases related to genetic disorders. It collaborates with PubMed, a database of scientific articles, to provide a comprehensive collection of research articles on genetic conditions.
Overall, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders. It offers a wealth of information on genes, associated diseases, diagnostic tests, and additional scientific resources to support further understanding and advancements in the field of genetics.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and healthcare professionals to access information on genetic disorders and associated gene defects. These databases catalog the changes, or variants, in genes that are linked to specific diseases and syndromes.
One important database for researching the NSDHL gene and associated conditions is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the function of genes, the diseases they can cause, and the specific variants that have been identified. Researchers can access scientific articles, references, and other relevant resources to deepen their understanding of the NSDHL gene and its role in erythroderma, ichthyosiform (EI) congenital limb defects, and other related conditions.
In addition to OMIM, there are other databases that focus on specific genetic tests and diseases. These include GeneTests and the Genetic Testing Registry (GTR). GeneTests provides a list of tests available for specific genes and diseases, while GTR offers a centralized registry of genetic tests for various conditions. These databases help healthcare professionals and researchers find testing options and information on specific variants associated with the NSDHL gene.
When referencing information from these databases, it is important to provide proper citation. Many databases, including PubMed, offer citation information for articles and references included in their search results. This allows researchers to acknowledge the original sources of information and provide proper credit to the authors and institutions that conducted the research.
In conclusion, gene and variant databases provide essential resources for researchers and healthcare professionals seeking information on the NSDHL gene and associated conditions. These databases offer a wealth of information, including gene function, disease associations, variant catalogs, testing options, and references to scientific articles. Access to these databases enables a better understanding of the NSDHL gene and its role in erythroderma, ichthyosiform congenital limb defects, and other related conditions.
References
- Nsdhl gene – Articles – PubMed
- Genes – Testing – OMIM
- Tests – NSDHL gene – Genetic Testing Registry
- Diseases – NSDHL gene – Genetic Testing Registry
- Other health-related changes – Nsdhl gene – Genetic Testing Registry
- Syndrome – NSDHL gene – OMIM
- NSDHL gene – OMIM
- NSDHL gene – Database – Gene
- This gene is also listed in the following databases:
- Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome – GeneReviews
- NSDHL – Genetic Testing Registry
- NSDHL gene – GENATLAS
- NSDHL gene – University of Leicester
- Other names for this gene:
- NSDHL sterol-C4-methyl oxidase-like (HGNC Symbol)
- STEROL-C4-METHYL OXIDASE-LIKE
- Other references for NSDHL gene:
- Citation 1
- Citation 2
- Citation 3
For additional information about this gene, please visit the following resources: