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Permanent neonatal diabetes mellitus (PNDM) is a rare genetic condition that affects infants and is characterized by the early onset of diabetes. PNDM is caused by mutations in certain genes that are involved in the regulation of insulin production and secretion. This condition is typically diagnosed within the first six months of life and requires lifelong management.

The frequency of PNDM is estimated to be around 1 in 100,000 to 250,000 live births. It is usually inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the gene for the condition to be inherited. However, some cases of PNDM are caused by spontaneous mutations in the affected gene.

Diagnosis of PNDM consists of a thorough medical history, physical examination, and additional testing such as blood glucose measurement and genetic testing. Treatment of PNDM typically involves insulin therapy to maintain normal blood glucose levels. With proper management, the long-term prognosis for patients with PNDM is generally good.

Research on PNDM is ongoing, and scientists are working to better understand the genetic causes of this condition and develop more effective treatments. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for learning more about the scientific studies and articles related to PNDM. ClinicalTrials.gov also provides information about ongoing clinical trials and research studies related to PNDM.

Support and advocacy organizations, such as the Neonatal Diabetes Registry and the Genetic Metabolic Disorders Resource Center, provide additional information and support for patients and their families. These organizations can help connect individuals with PNDM to resources and services that can assist with their care and provide them with a supportive community.

Frequency

Permanent neonatal diabetes mellitus is a rare condition that occurs in infants and consists of persistent hyperglycemia diagnosed within the first six months of life. According to studies, about 1 in every 200,000 live births is affected by permanent neonatal diabetes mellitus.

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The condition can be caused by mutations in various genes, including the KCNJ11 gene and the ABCC8 gene. Mutations in these genes result in the dysfunction of the potassium channels in pancreatic beta cells, leading to impaired insulin secretion and subsequent hyperglycemia.

Additional genes associated with permanent neonatal diabetes mellitus include INS, GATA6, FOXP3, and PNPLA6. In rare cases, the condition may also be caused by certain chromosomal abnormalities.

Genetic testing plays a critical role in the diagnosis and management of permanent neonatal diabetes mellitus. Identifying the genetic cause of the condition can provide valuable information for prognosis, treatment options, and genetic counseling.

Although rare, permanent neonatal diabetes mellitus has been the subject of scientific research. Several articles and studies have been published on the topic, and additional information can be found in resources such as OMIM, PubMed, and clinicaltrialsgov.

The frequency of permanent neonatal diabetes mellitus varies among different populations. This condition has been reported in individuals of various ethnicities and countries. The Neonatal Diabetes International Collaborative Group (https://www.ndei.org/) has established a registry to collect information and provide support for individuals with neonatal diabetes mellitus and their families.

Advocacy organizations, such as the Permanent Neonatal Diabetes Mellitus Association (https://www.pndm.org/), offer resources, support, and advocacy for individuals and families affected by this condition.

Causes

Permanent neonatal diabetes mellitus (PNDM) is a rare genetic condition that is caused by mutations in specific genes. These mutations affect the normal functioning of the pancreatic beta cells, which are responsible for producing insulin.

The genetic causes of PNDM can be classified into two main categories: monogenic and syndromic. Monogenic PNDM is caused by mutations in a single gene, while syndromic PNDM is caused by mutations in multiple genes and is accompanied by additional clinical features.

More than 20 genes have been associated with PNDM, with mutations in these genes accounting for the majority of cases. These genes include ABCC8, KCNJ11, INS, and GCK, among others. These mutations can be inherited in an autosomal dominant or autosomal recessive manner.

The frequency of PNDM caused by mutations in different genes varies. For example, mutations in the ABCC8 and KCNJ11 genes are the most common cause of PNDM, accounting for approximately 40-50% of cases. Mutations in the INS gene are less common, but have been found in approximately 20% of PNDM patients.

Diagnosing PNDM requires genetic testing to identify the specific gene mutations present in the patient. This testing can be done through molecular genetic testing or targeted mutation analysis. It is important to identify the underlying genetic cause of PNDM, as it can inform treatment decisions and provide information about the prognosis of the condition.

Additional research is ongoing to better understand the genetic and molecular basis of PNDM. Studies are being conducted to identify novel gene mutations associated with the condition and to investigate the mechanisms by which these mutations lead to impaired pancreatic beta cell function.

For patients with PNDM, genetic testing is important not only for diagnosis, but also for providing information about recurrence risk and guiding family planning. Genetic counseling and support can be beneficial for individuals and families affected by PNDM.

References:

  1. Philipson LH, et al. (2004). Neonatal diabetes mellitus: the INS gene contributes to insulin secretion, diabetes, and adult height. Proceedings of the National Academy of Sciences of the United States of America, 101(21), 6999–7003. doi: 10.1073/pnas.0401272101
  2. PubMed Health. (n.d.). Permanent neonatal diabetes mellitus. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024754/
  3. Genetic and Rare Diseases Information Center. (n.d.). Permanent neonatal diabetes mellitus. Retrieved from https://rarediseases.info.nih.gov/diseases/9796/permanent-neonatal-diabetes-mellitus

Learn more about the genes associated with Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by hyperglycemia in infants within the first six months of life. It is caused by genetic factors and results in lifelong dependence on insulin for blood glucose management. PNDM can be inherited in an autosomal dominant or recessive manner, and the genetic causes of this condition have been extensively studied.

The majority of patients with PNDM have mutations in specific genes that play a role in pancreatic beta cell development and function. These genes include KCNJ11, ABCC8, INS, and GCK. Mutations in the KCNJ11 and ABCC8 genes are the most common genetic causes of PNDM and account for approximately 30-50% of cases.

Research into the genetic causes of PNDM has led to the development of genetic testing panels that can identify mutations in these genes. Genetic testing can help confirm a diagnosis of PNDM and guide treatment decisions. It can also provide information about the risk of diabetes recurrence in future pregnancies.

See also  Miller-Dieker syndrome

In addition to genetic testing, there are registries and research studies dedicated to understanding PNDM and providing support for patients and families. One such resource is the Permanent Neonatal Diabetes Mellitus Registry, which consists of a catalog of patient information, clinical trials, articles, and other resources related to PNDM. The registry is a valuable source of information for healthcare professionals and researchers interested in PNDM.

For more detailed information on the genes associated with Permanent neonatal diabetes mellitus, references and additional resources can be found on scientific databases such as OMIM and PubMed. These databases provide access to scientific articles and studies that delve into the genetic basis of PNDM.

Gene Inheritance Frequency
KCNJ11 Autosomal dominant/recessive 30-50% of cases
ABCC8 Autosomal dominant/recessive 30-50% of cases
INS Autosomal recessive Rare
GCK Autosomal recessive Rare
  • KCNJ11: The KCNJ11 gene encodes the Kir6.2 protein, which is a subunit of the ATP-sensitive potassium channel in insulin-producing beta cells. Mutations in this gene lead to impaired insulin secretion and hyperglycemia.
  • ABCC8: The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) protein, which also plays a role in the ATP-sensitive potassium channel. Mutations in this gene result in similar functional defects as KCNJ11 mutations.
  • INS: The INS gene encodes insulin, the hormone responsible for regulating blood glucose levels. Mutations in this gene cause inadequate insulin production and subsequent hyperglycemia.
  • GCK: The GCK gene encodes glucokinase, an enzyme involved in glucose sensing and insulin secretion. Mutations in this gene disrupt the normal regulation of insulin release, leading to hyperglycemia.

Understanding the genetic basis of PNDM is crucial for improving diagnosis and developing targeted therapies. The discovery of these genes has opened up new avenues for research into the mechanisms underlying this condition. Through ongoing studies and clinical trials, researchers aim to further uncover the causes of PNDM and find innovative treatment options to improve the lives of affected individuals.

Inheritance

Permanent neonatal diabetes mellitus is a rare condition that can be caused by various genetic mutations. The inheritance pattern of this condition depends on the specific gene mutation involved.

Testing for the genetic causes of permanent neonatal diabetes mellitus consists of analyzing the patient’s DNA for mutations in specific genes. The most common gene associated with this condition is the Kir6.2 gene (KCNJ11), which is responsible for encoding a protein involved in regulating the production of insulin. Mutations in the Kir6.2 gene are responsible for around half of all cases of permanent neonatal diabetes mellitus.

Additional genes, such as ABCC8 and INS, have also been found to be associated with this condition. However, mutations in these genes are less common and account for a smaller percentage of cases.

Inherited permanent neonatal diabetes mellitus is typically caused by autosomal recessive mutations. This means that both copies of the gene must have a mutation in order for the condition to be present. If only one copy of the gene is mutated, the individual will be a carrier but will not experience symptoms.

Infants with permanent neonatal diabetes mellitus are typically diagnosed shortly after birth or within the first six months of life. The condition is characterized by persistent hyperglycemia, or high blood sugar levels, which can lead to a variety of symptoms including frequent urination, increased thirst, weight loss, and poor growth.

The frequency of permanent neonatal diabetes mellitus caused by specific gene mutations varies. For example, mutations in the Kir6.2 gene are estimated to occur in about 40% to 50% of cases, while mutations in the ABCC8 gene occur in about 5% to 10% of cases. Mutations in the INS gene are even less common, accounting for less than 2% of cases.

For more information about the genetic causes of permanent neonatal diabetes mellitus, resources such as OMIM, PubMed, and the Genetic Testing Registry provide scientific articles and additional information on specific genes and mutations associated with the condition.

The ClinicalTrials.gov website may also have information on ongoing research studies and clinical trials related to permanent neonatal diabetes mellitus.

In terms of inheritance, individuals with permanent neonatal diabetes mellitus have a 50% chance of passing the condition on to their children if they have an affected child with a partner who is not a carrier. If both parents are carriers, the chance of passing on the condition is increased to 25% for each pregnancy.

Support and advocacy groups, such as the Neonatal Diabetes International (NDI) group, provide resources and support for individuals and families affected by permanent neonatal diabetes mellitus. These groups can help patients and families learn more about the condition, connect with others who have similar experiences, and find additional support.

In summary, the inheritance of permanent neonatal diabetes mellitus is usually autosomal recessive, caused by mutations in specific genes such as Kir6.2, ABCC8, and INS. Genetic testing can be performed to determine the specific gene mutation. The condition is typically diagnosed in infancy and can lead to symptoms of hyperglycemia. Resources such as OMIM, PubMed, and the Genetic Testing Registry offer scientific articles and additional information on the genetic causes of this condition.

Other Names for This Condition

  • Permanent neonatal diabetes mellitus
  • Neonatal diabetes mellitus
  • Neonatal hyperglycemia
  • Recessive neonatal diabetes mellitus
  • Hyperglycemia of newborn
  • KIR62 neonatal diabetes mellitus

Permanent neonatal diabetes mellitus, also known as neonatal diabetes mellitus, neonatal hyperglycemia, or recessive neonatal diabetes mellitus, is a rare form of diabetes that is diagnosed in infants. This condition is usually caused by genetic mutations in certain genes associated with the regulation of glucose levels in the body. Additional information about this condition can be found in scientific articles, research studies, and advocacy resources.

The frequency of permanent neonatal diabetes mellitus is quite rare, and it affects a small number of infants. Diagnosis and testing for this condition often consist of genetic testing to identify the specific gene mutations involved. The OMIM database and the Genetic Testing Registry can provide further information on the genes associated with this condition.

Patients with permanent neonatal diabetes mellitus often require lifelong management of their glucose levels. Endocrine and metabolic specialists, such as those at the Philipson Diabetes Center, have experience in treating and supporting individuals with this condition. Growth and development may be affected in these patients, and additional resources and support can be found through organizations and support groups dedicated to diabetes.

Other causes of neonatal hyperglycemia, such as other genetic diseases or environmental factors, should also be considered in the diagnosis and treatment of this condition. Clinical trials and studies are ongoing to further understand the genetic and molecular basis of permanent neonatal diabetes mellitus and to develop better treatment options.

For more information on this condition and the latest research and advancements, please refer to the PubMed database and clinicaltrialsgov.

Additional Information Resources

Permanent neonatal diabetes mellitus is a rare genetic condition that is diagnosed in infants and is associated with hyperglycemia. The frequency of this condition is estimated to be about 1 in 400,000 live births.

See also  MITF gene

Additional information about permanent neonatal diabetes mellitus can be found from various resources:

  • PUBMED: PUBMED is a scientific research database that provides access to a wide range of articles related to neonatal diabetes. You can search for more information about the causes, inheritance, and genetic testing for this condition on PUBMED.

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with permanent neonatal diabetes mellitus and their inheritance patterns.

  • Registry: The Permanent Neonatal Diabetes Registry is a database that collects information about patients diagnosed with this rare condition. It aims to promote research, support patient experience, and provide additional resources for healthcare professionals.

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. You can find information about ongoing and completed clinical trials related to neonatal diabetes on this website.

  • Philipson Lab: The Philipson Lab at the University of Chicago specializes in research on neonatal diabetes and other rare genetic diseases. Their website provides educational resources to help you learn more about this condition, its genetic causes, and other related topics.

These additional information resources can provide more insight into the causes, diagnosis, genetic testing, and treatment options for permanent neonatal diabetes mellitus. It is important to consult with healthcare professionals and experts in the field for more personalized and up-to-date information.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Permanent Neonatal Diabetes Mellitus (PNDM). By analyzing an individual’s genes, it helps identify the specific genetic causes of this rare condition. This information is invaluable for understanding the disease mechanism, prognosis, and treatment options for affected infants.

Several scientific databases provide comprehensive genetic information related to PNDM. The Online Mendelian Inheritance in Man (OMIM) catalog is an excellent resource for understanding the genetic basis of various diseases, including PNDM. Researchers can find detailed genetic studies, gene names, associated clinical features, and inheritance patterns.

A common genetic cause of PNDM is mutations in the Kir6.2 gene (KCNJ11). This gene encodes a protein that plays a crucial role in regulating insulin secretion in beta cells. Mutations in this gene result in impaired insulin release and persistent hyperglycemia in affected infants.

ClinicalTrials.gov provides information on ongoing clinical trials related to genetic testing for PNDM. These trials aim to explore novel diagnostic techniques, treatment strategies, and approaches towards personalized medicine. Participation in these trials can help advance our understanding of the disease and offer additional support to affected patients.

The Endocrinology and Metabolism Research Center, led by Dr. Louis Philipson, is actively researching the genetic causes and potential therapies for PNDM. Their research articles and publications offer valuable insights into the genetic basis of this condition and provide additional resources for patients and healthcare providers.

Genetic testing for PNDM consists of analyzing specific genes associated with the condition. In addition to the KCNJ11 gene, there are several other rare genes that have been linked to PNDM. By identifying mutations in these genes, healthcare providers can accurately diagnose affected infants and provide appropriate management strategies, including personalized treatment plans.

For more information on genetic testing and resources for PNDM, you can refer to PubMed, a database of scientific articles and research papers. PubMed provides a comprehensive collection of articles related to PNDM and other rare genetic conditions, offering a wealth of knowledge and references for healthcare providers and researchers.

In conclusion, genetic testing is essential for diagnosing and managing Permanent Neonatal Diabetes Mellitus. By identifying the specific genetic causes, healthcare providers can offer personalized treatment plans and resources for affected infants. Ongoing research and clinical trials further enhance our understanding of this rare condition and provide hope for better outcomes in the future.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific and educational resource that provides information on rare genetic conditions. GARD is associated with the National Institute of Health and is dedicated to providing reliable and up-to-date information on these conditions to patients, their families, healthcare professionals, and researchers.

One rare genetic condition that GARD provides information on is permanent neonatal diabetes mellitus. This condition is characterized by hyperglycemia in the newborn period and can be diagnosed in infants less than 6 months old. It is a rare form of diabetes that persists throughout life. The condition can be caused by mutations in various genes, and inheritance can be either dominant or recessive.

The GARD website offers in-depth information about the causes, symptoms, diagnosis, and treatment options for permanent neonatal diabetes mellitus. Users can learn about the genetic basis of the condition and find resources for additional support, such as patient registries and advocacy groups.

The frequency of permanent neonatal diabetes mellitus is low, with an estimated prevalence of 1 in 100,000 to 500,000 newborns. The condition has been extensively studied and has been the subject of numerous scientific articles and research studies. Information on ongoing clinical trials related to permanent neonatal diabetes mellitus can also be found on the GARD website.

The GARD website includes a comprehensive catalog of rare diseases, and permanent neonatal diabetes mellitus is listed among the conditions covered. Users can access specific information on the condition, including its genetic basis, clinical features, and related articles and references.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and healthcare professionals seeking information on rare genetic conditions, including permanent neonatal diabetes mellitus. The center’s website provides comprehensive and accurate information, supporting research, and additional resources for those affected by these conditions.

Patient Support and Advocacy Resources

Patients diagnosed with permanent neonatal diabetes mellitus (PNDM) may benefit from the support and advocacy resources available. These resources provide valuable information and assistance to patients and their families, helping them navigate the challenges of living with this rare condition.

Here are some recommended resources:

  • PUBLIC DATABASES:
    • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic diseases, including information about PNDM genes
    • PubMed – a database of scientific articles, providing research studies and clinical information related to PNDM
    • ClinicalTrials.gov – a registry of clinical studies, offering potential options for patients to participate in research studies and clinical trials
  • PATIENT SUPPORT GROUPS:
    • PNDM Registry – a central repository that collects and maintains records of patients diagnosed with PNDM, facilitating research and providing a platform for patients to connect with each other
    • PNDM Patient Support Center – a dedicated center that offers resources and support for patients and families affected by PNDM, including educational materials and guidance on managing the condition
  • ADDITIONAL INFORMATION AND REFERENCES:
    • Medical Geneticist or Endocrinologist – healthcare professionals specializing in genetic and endocrine disorders can provide further guidance and information on PNDM
    • Scientific articles and research papers – exploring publications related to PNDM can offer additional insights into the genetic inheritance, causes, testing, and management of this rare condition
See also  CHD2 gene

By leveraging the resources mentioned above, patients with permanent neonatal diabetes mellitus can access support, gain knowledge, and connect with others experiencing similar challenges. These resources are invaluable in helping patients and their families navigate the complexities of PNDM and improve their overall well-being.

Research Studies from ClinicalTrialsgov

Permanent neonatal diabetes mellitus is a rare genetic condition that occurs in infants and is diagnosed within the first few months of life. This condition is characterized by high blood sugar levels (hyperglycemia) that require lifelong treatment with insulin.

Research studies conducted by ClinicalTrialsgov provide valuable information about this rare form of diabetes. These studies focus on understanding the genetic causes of permanent neonatal diabetes mellitus and developing better treatment options for affected infants.

Studies have shown that permanent neonatal diabetes mellitus can be caused by mutations in several genes, including KCNJ11, ABCC8, and INS. These genes play a role in the regulation of insulin production and the function of pancreatic beta cells. Mutations in these genes can disrupt the normal insulin secretion process, leading to persistent hyperglycemia.

The frequency of permanent neonatal diabetes mellitus caused by mutations in these genes varies among different populations. For example, mutations in the KCNJ11 and ABCC8 genes are more common in certain ethnic groups.

ClinicalTrialsgov provides a comprehensive registry of ongoing and completed research studies on permanent neonatal diabetes mellitus. This information can help researchers and healthcare professionals learn more about the condition and its causes.

Additionally, ClinicalTrialsgov serves as a valuable resource for patients and families affected by permanent neonatal diabetes mellitus. The website offers resources and support for advocacy organizations, as well as links to scientific articles and references about the condition.

Researchers are also using ClinicalTrialsgov to study the long-term effects of permanent neonatal diabetes mellitus on growth and development. By collecting data from patients enrolled in these studies, researchers can gain insight into the impact of this condition on overall health and quality of life.

In conclusion, research conducted through ClinicalTrialsgov has contributed to our understanding of permanent neonatal diabetes mellitus. Through testing and studying the genetic causes of this rare form of diabetes, researchers hope to develop more effective treatments and improve the lives of those affected by this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM consists of a collection of articles on the genetic causes of rare diseases, including permanent neonatal diabetes mellitus. Neonatal diabetes mellitus is a rare condition diagnosed in infants, where hyperglycemia is present in the first six months of life. This condition can have a significant impact on an individual’s health, requiring careful monitoring and management throughout their lifetime.

Permanent neonatal diabetes mellitus can be caused by mutations in various genes. Testing for these genes can provide valuable information for diagnosis and treatment. The inheritance pattern of this condition is usually autosomal recessive, meaning that both copies of the gene must be mutated for the disease to be present. However, there are cases where other inheritance patterns have been observed.

Research and clinical trials play a crucial role in understanding the genetic basis of permanent neonatal diabetes mellitus and developing effective treatments. The ClinicalTrials.gov website provides information on ongoing studies related to this condition. These studies aim to learn more about the associated genes, causes, and possible treatments.

The OMIM database is a valuable resource for additional scientific information on permanent neonatal diabetes mellitus. The database provides detailed information on gene names, genetic inheritance patterns, clinical features, and references to relevant studies. It is an essential tool for healthcare professionals, researchers, and advocacy organizations.

For patients and their families, the OMIM database can provide a comprehensive understanding of the condition and its genetic causes. It can also serve as a platform for connecting with other individuals and families affected by permanent neonatal diabetes mellitus through the patient registry. This registry helps establish a network of support and facilitates sharing of experiences and information.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of permanent neonatal diabetes mellitus. It provides information on the genes associated with this condition, their inheritance patterns, and clinical features. Further research and testing are needed to expand our knowledge and develop more effective treatments for this rare disease.

Scientific Articles on PubMed

Permanent neonatal diabetes mellitus is a rare genetic condition associated with a variety of genes. One of the genes, kir62, has been found to be associated with this condition. The kir62 gene consists of a recessive gene that causes the permanent neonatal diabetes mellitus.

Scientific research and clinical trials have been conducted to learn more about this rare genetic condition. Additional genes and causes of neonatal diabetes mellitus have been identified through these studies. ClinicalTrials.gov is a valuable resource for finding more information and references about the research and clinical trials on permanent neonatal diabetes mellitus.

The clinical trial registry at ClinicalTrials.gov lists information about ongoing and completed trials related to permanent neonatal diabetes mellitus. This registry provides information about the trial name, condition being studied, clinical trial phase, patient age group, and location.

In addition to scientific research and clinical trials, there are advocacy and support resources available for patients and families affected by this rare genetic condition. The Permanent Neonatal Diabetes Mellitus Advocacy and Support Center offers support and resources for infants diagnosed with this condition.

There are also scientific articles available on PubMed that provide further information about the causes, growth, and other associated diseases with permanent neonatal diabetes mellitus. These articles offer insights into the genetic factors, clinical presentations, and testing options for this rare condition.

The frequency of permanent neonatal diabetes mellitus is low, making it a rare disease. However, with more research and genetic testing, additional genes and causes may be discovered. It is important for healthcare professionals to stay informed about the latest research and developments in this field.

Overall, scientific articles, research, and clinical trials on permanent neonatal diabetes mellitus provide valuable information about this rare genetic condition. They contribute to the understanding and management of this disease and offer hope for improved prognosis and treatment options for affected individuals.

References

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