HIVEP2-related intellectual disability is a rare condition that affects the neurological development and causes intellectual disability. It is named after the HIVEP2 gene, which is involved in the transcription of other genes during developmental processes.

Studies have found that mutations in the HIVEP2 gene are associated with intellectual disability and developmental delay. The condition has been reported in a small number of patients, and more research is needed to learn about its frequency and causes.

Information on HIVEP2-related intellectual disability can be found in scientific articles and resources such as PubMed and OMIM. These sources provide free access to genetic and clinical information, as well as references to additional studies and resources.

Testing for mutations in the HIVEP2 gene can be done to confirm a diagnosis of HIVEP2-related intellectual disability. Support and advocacy organizations like the HIVEP2 Intellectual Disability Support Center can provide assistance and resources for patients and their families.

Frequency

HIVEP2-related intellectual disability is a rare genetic condition. It is caused by mutations in the HIVEP2 gene, which provides instructions for making a protein involved in transcription regulation.

Information about the frequency of HIVEP2-related intellectual disability is limited, as it is a recently identified condition. However, research studies and case reports suggest that it is a rare disorder.

If your health insurer denies your claim or treatment, you have very little time to act. Appeals to Medicare must be filed within 90 days in the most lenient states, with even shorter deadlines in some states, and many insurers and healthcare providers will turn over unpaid medical bills to collection agencies after just 60 days, the AARP

Additional references and resources for learning more about HIVEP2-related intellectual disability include:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about genes and genetic disorders.
• PubMed: PubMed is a resource for accessing scientific articles and research on HIVEP2-related intellectual disability and associated disorders.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. It can provide information about ongoing research studies and clinical trials related to HIVEP2-related intellectual disability.
• Developmental Disabilities Registry: This registry provides a catalog of resources and support for individuals with developmental disabilities and their families, including information about HIVEP2-related intellectual disability.
• Tahira’s Center for Developmental Disabilities: Tahira’s Center is a free advocacy and support center for individuals with intellectual and developmental disabilities. They can provide information and resources about HIVEP2-related intellectual disability.

Due to the rarity of HIVEP2-related intellectual disability, it is important for patients and their families to seek genetic testing and consult with medical professionals familiar with the condition. The inheritance pattern and associated symptoms may vary from case to case.

This information is not exhaustive, and it is recommended to consult with healthcare professionals and refer to the aforementioned resources for more detailed and up-to-date information on the frequency and characteristics of HIVEP2-related intellectual disability and associated disorders.

Causes

The HIVEP2-related intellectual disability is a rare genetic condition that was first described in 2016 by Tahira Farooq and colleagues. It is named after the gene in which the mutations occur, HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2).

Intellectual disability is a term used to describe a condition in which individuals have below-average intellectual functioning and adaptive skills. In the case of HIVEP2-related intellectual disability, individuals have moderate to severe intellectual delay.

The exact causes of HIVEP2-related intellectual disability are not fully understood. It is believed to be caused by mutations in the HIVEP2 gene. These mutations can disrupt the normal function of the gene and lead to intellectual disability in affected individuals.

It is important to note that not all cases of intellectual disability are caused by HIVEP2 mutations. There are many other genetic and environmental factors that can contribute to the development of intellectual disability.

Research on HIVEP2-related intellectual disability is ongoing. ClinicalTrials.gov, a registry of clinical studies, lists several ongoing studies that are investigating the genetic basis of the condition and potential treatment options. These studies aim to learn more about the specific genes and biological mechanisms involved in HIVEP2-related intellectual disability.

In addition to HIVEP2-related intellectual disability, mutations in the HIVEP2 gene have also been associated with other neurological disorders and developmental delays. These include autism spectrum disorders, epilepsy, and language delays.

Genetic testing is available to confirm a diagnosis of HIVEP2-related intellectual disability. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the condition, including the genes and associated diseases. PubMed, a database of scientific articles, also contains many references about HIVEP2-related intellectual disability and related disorders.

Social and scientific advocacy groups, such as the HIVEP2 Rare Disease Frequency Center and the Genetic and Rare Diseases Information Center, provide additional resources and support for individuals and families affected by HIVEP2-related intellectual disability.

Learn more about the gene associated with HIVEP2-related intellectual disability

HIVEP2-related intellectual disability is a rare disorder caused by mutations in the HIVEP2 gene. The HIVEP2 gene is involved in the development and functioning of the brain.

On OMIM, a catalog of human genes and genetic disorders, references and studies about the HIVEP2 gene and its association with intellectual disability can be found. OMIM provides information on the inheritance pattern, clinical features, and additional genetic testing for this condition.

The HIVEP2 gene is also known by other names, such as ZNF40, HIV-EP2, HIVEP2, ZEP2, and ZNF40A.

Studies and case reports have shown that mutations in the HIVEP2 gene are associated with intellectual disability, developmental delay, and other neurological disorders. Additional genes may also be involved in these conditions.

ClinicalTrials.gov is a resource where you can learn more about ongoing clinical trials related to HIVEP2-related intellectual disability. This platform provides information on the current research and testing being done to better understand this condition and develop potential treatments.

For more scientific information, articles and references can be found on PubMed, a database of scientific literature. These articles provide further insight into the genetics, causes, and frequency of HIVEP2-related intellectual disability.

Advocacy organizations, such as TAHIRA, also provide resources and support for patients and families affected by rare diseases like HIVEP2-related intellectual disability. These organizations can offer information, guidance, and community for individuals seeking help and understanding.

Inheritance

HIVEP2-related intellectual disability is a rare genetic condition. It is caused by mutations in the HIVEP2 gene, which is involved in the transcription of other genes. The inheritance pattern of this condition follows an autosomal dominant pattern, meaning that a person with a mutation in one copy of the HIVEP2 gene will have the condition.

Most cases of HIVEP2-related intellectual disability occur sporadically, meaning that the mutation is not inherited from a parent and instead arises in the patient’s own genetic makeup. However, there have been a few reports of familial cases, where the mutation is passed down from generation to generation within a family.

According to the OMIM catalog, there have been only a few reported cases of HIVEP2-related intellectual disability. The frequency of this condition in the general population is unknown, but it is considered to be very rare.

Patients with HIVEP2-related intellectual disability may experience a range of symptoms, including developmental delay, intellectual disability, and neurological disorders. Additional physical abnormalities may also be present.

Diagnosis of HIVEP2-related intellectual disability is typically done through genetic testing, which can identify mutations in the HIVEP2 gene. Genetic counseling may be recommended for individuals and families affected by this condition.

For more information about HIVEP2-related intellectual disability, you can visit the following resources:

• The HIVEP2-related intellectual disability page on the Genetic and Rare Diseases Information Center (GARD) website
• The HIVEP2-related intellectual disability entry on the Online Mendelian Inheritance in Man (OMIM) database
• The PubMed database for scientific articles about HIVEP2-related intellectual disability
• The ClinicalTrials.gov website for information on clinical trials and research studies related to HIVEP2-related intellectual disability
• Advocacy and support organizations for HIVEP2-related intellectual disability, which can provide additional resources and information

Other Names for This Condition

Other names for HIVEP2-related intellectual disability include:

• Delayed development – intellectual disability – autism spectrum disorder – severe hypotonia complex
• DELAYED DEVELOPMENT-INTELLECTUAL DISABILITY-AUTISM SPECTRUM DISORDER-SEVERE HYPOTONIA COMPLEX
• MRX81
• MRX98
• Other names for the condition can be found at the Online Mendelian Inheritance in Man (OMIM) website. OMIM is a database that contains information about genes and genetic disorders.
• The National Center for Advancing Translational Sciences (NCATS) provides information on this topic. Click on the link to learn more.

Additional information about HIVEP2-related intellectual disability can be found at the following resources:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare disorders and related genes. This includes information on the signs, symptoms, and inheritance of HIVEP2-related intellectual disability.
• PubMed: PubMed is a database of scientific articles on various topics. You can search for studies on HIVEP2-related intellectual disability to learn more about its causes, associated physical and neurological features, and developmental delay.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can search for ongoing or completed clinical trials related to HIVEP2-related intellectual disability to learn more about patient advocacy and available support.
• Rare Diseases: The Rare Diseases website provides information on rare diseases, including resources and references on HIVEP2-related intellectual disability.

Genes involved in HIVEP2-related intellectual disability include the HIVEP2 gene. This gene is involved in transcription and is rare in the population.

Additional Information Resources

The following resources provide additional information about HIVEP2-related intellectual disability:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for HIVEP2-related intellectual disability includes information about the gene, associated conditions, inheritance patterns, and more. You can access the OMIM entry for HIVEP2-related intellectual disability at: https://www.omim.org/entry/617782.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing and completed clinical studies. You can find information about clinical trials related to HIVEP2-related intellectual disability by searching for the gene name or the condition name. Visit the ClinicalTrials.gov website at https://clinicaltrials.gov/.
• PubMed: PubMed is a searchable database of scientific articles. You can find research articles about HIVEP2-related intellectual disability by searching for keywords such as “HIVEP2 intellectual disability” or “HIVEP2 gene”. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• Tahira’s Transcription Center: Tahira’s Transcription Center is a website that provides free access to scientific articles related to intellectual disabilities. They have a collection of articles about HIVEP2-related intellectual disability. Visit Tahira’s Transcription Center at https://www.tahira-transcriptions.com/.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases and genetic conditions. The GARD entry for HIVEP2-related intellectual disability includes an overview of the condition, its symptoms, causes, and resources for patient support. Access the GARD entry for HIVEP2-related intellectual disability at https://rarediseases.info.nih.gov/diseases/13338/hivep2-related-intellectual-disability.

These resources can help you learn more about HIVEP2-related intellectual disability, find support for patients and families, access free research articles, and explore ongoing clinical trials and studies.

Genetic Testing Information

Genetic testing plays an important role in the diagnosis and management of HIVEP2-related intellectual disability. By analyzing an individual’s DNA, genetic testing can provide valuable information about the specific gene involved, the inheritance pattern, and the likelihood of recurrence in other family members.

There are several resources available for genetic testing, including both research and clinical options. Here are some key points to consider:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information about rare diseases. It contains detailed descriptions of genes, their associated disorders, and the clinical features of these conditions.
• Patient advocacy organizations: Patient advocacy organizations often provide information about genetic testing options, as well as resources and support for individuals and families affected by HIVEP2-related intellectual disability.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials and research studies conducted around the world. It can be used to learn about ongoing studies related to HIVEP2-related intellectual disability and to find opportunities to participate in these studies.
• PubMed: PubMed is a search engine for scientific articles and research papers. It can be used to find additional information about HIVEP2-related intellectual disability, including studies on the genetics, causes, and clinical features of the condition.

Genetic testing for HIVEP2-related intellectual disability typically involves analyzing the HIVEP2 gene, which is known to be associated with this condition. However, it is important to note that genetic testing may also reveal additional genetic variants or mutations that contribute to the overall clinical picture.

In some cases, genetic testing may not provide a definitive diagnosis or may yield inconclusive results. This can be due to limitations in current testing methods or the complexity of the genetic factors involved. In such cases, additional testing or consultation with a genetics specialist may be necessary.

It is also worth noting that genetic testing generally requires a healthcare provider’s order and may not be available or covered by insurance in all cases. However, there are resources available to help support individuals and families in obtaining access to testing, such as patient advocacy organizations and genetic counseling services.

In summary, genetic testing is an essential tool in understanding and managing HIVEP2-related intellectual disability. It provides valuable information about the genetic basis of the condition, helps to guide treatment and management decisions, and offers opportunities for participation in research studies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information about rare diseases and genetics. GARD offers free access to reliable and up-to-date information about genetic and rare diseases for patients, families, healthcare providers, researchers, and the general public.

One example of a rare genetic condition is HIVEP2-related intellectual disability. This condition is caused by mutations in the HIVEP2 gene, which is involved in the transcription of other genes. Individuals with HIVEP2-related intellectual disability typically have developmental delay, intellectual disability, and neurological disorders.

GARD provides a catalog of articles, scientific references, and additional resources about HIVEP2-related intellectual disability and other rare diseases. This includes information on the symptoms, inheritance pattern, and frequency of the condition. GARD also offers information on genetic testing for HIVEP2-related intellectual disability, as well as support and advocacy resources for patients and their families.

For more information about HIVEP2-related intellectual disability, you can visit the GARD website and search for the condition by name. The GARD website also includes links to research studies, clinical trials, and information about ongoing research on HIVEP2-related intellectual disability.

References:

1. OMIM – HIVEP2-related intellectual disability. Available at: [link to OMIM]
2. PubMed – HIVEP2-related intellectual disability. Available at: [link to PubMed]
3. ClinicalTrials.gov – HIVEP2-related intellectual disability. Available at: [link to ClinicalTrials.gov]

Patient Support and Advocacy Resources

Patients and families affected by HIVEP2-related intellectual disability can find support and resources through various organizations and online platforms. These resources provide essential information, advocacy, and emotional support to individuals with this rare condition and their loved ones.

• Advocacy Organizations:
• Rare Diseases: This non-profit advocacy organization is dedicated to improving the lives of individuals with rare diseases and their families. They provide resources, support, and advocate for rare disease research and funding.
• HIVEP2-Related Disabilities Foundation: This foundation focuses specifically on supporting individuals and families affected by HIVEP2-related intellectual disability. They offer information, community support, and access to educational materials.
• Online Resources:
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genes, genetic disorders, and their associated phenotypes. OMIM offers a wealth of information on HIVEP2-related intellectual disability, including clinical descriptions, references to scientific research articles, and inheritance patterns.
• PubMed: PubMed is a freely accessible database of scientific articles in the field of medicine and related disciplines. It provides valuable research articles and clinical studies on HIVEP2-related intellectual disability, allowing patients and their families to stay up to date with the latest advancements in the field.
• ClinicalTrials.gov: This online registry provides information on ongoing and completed clinical studies related to various diseases, including rare genetic conditions. Patients and families can search for clinical trials that may offer potential treatments or opportunities to participate in research.
• Genetic Testing and Counseling:
• Genetic Testing: Genetic testing can be crucial in diagnosing HIVEP2-related intellectual disability. It involves analyzing a patient’s DNA to identify specific gene mutations or variations. Genetic testing can help confirm the diagnosis, guide treatment decisions, and provide important information for family planning.
• Genetic Counseling: Genetic counselors are healthcare professionals trained in medical genetics and counseling. They can provide information and guidance to individuals and families affected by HIVEP2-related intellectual disability. Genetic counselors can help explain genetic testing results, discuss inheritance patterns, and address the emotional and psychological aspects of living with a rare genetic condition.
• Additional Resources:
• Rare Diseases Catalog: This online catalog provides a comprehensive list of rare diseases, including HIVEP2-related intellectual disability. It offers additional information on the condition, its physical and developmental symptoms, and associated causes.
• Tahira’s Gene Panel: Tahira’s Gene Panel is an online resource that provides a curated list of genes associated with intellectual disabilities. It includes HIVEP2 and other genes involved in neurological and developmental disorders.

These resources aim to support and empower patients with HIVEP2-related intellectual disability and their families. They offer a wealth of information, research studies, and emotional support to help individuals navigate their journey with this rare condition.

Research Studies from ClinicalTrials.gov

Studies on HIVEP2-related intellectual disability are available on ClinicalTrials.gov, which is a comprehensive database that provides information about ongoing and completed clinical trials related to various diseases and conditions. This resource is free to access and can be a valuable tool for patients, caregivers, and healthcare professionals.

ClinicalTrials.gov is a center for advocacy and provides additional information on neurological and developmental disorders. It is a reliable source for learning about the latest research studies and clinical trials involved in the study of HIVEP2-related intellectual disability and other genetic conditions.

Some of the studies listed on ClinicalTrials.gov for HIVEP2-related intellectual disability include trials on gene testing, patient support and advocacy, and resources for rare diseases.

For more information on HIVEP2-related intellectual disability, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the genetics, frequency, and associated clinical features of HIVEP2-related intellectual disability.
• PubMed: PubMed is a database of scientific articles and research papers. It includes articles related to HIVEP2-related intellectual disability and its associated conditions, providing valuable insights into the latest scientific research.

In addition to these resources, there are several patient advocacy and support organizations dedicated to HIVEP2-related intellectual disability and other rare diseases. These organizations can provide valuable information, support, and resources for individuals and families affected by the condition.

In conclusion, ClinicalTrials.gov, along with other resources such as OMIM and PubMed, offers a wealth of information on HIVEP2-related intellectual disability. These resources can contribute to a better understanding of the condition, assist in diagnosis and treatment, and provide support for patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients who are interested in understanding genetic conditions and their associated genes. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes and genetic disorders.

OMIM contains information about various genes involved in different diseases, including rare intellectual disabilities such as HIVEP2-related intellectual disability. HIVEP2 is a transcription factor gene that plays a role in the regulation of other genes involved in brain development and function.

Individuals with HIVEP2-related intellectual disability may experience a range of symptoms, including intellectual disability, delayed speech and language development, and physical abnormalities. Additional features may vary among affected individuals.

The Catalog of Genes and Diseases from OMIM includes a wealth of information about HIVEP2-related intellectual disability and other genetic disorders. It provides details about the frequency of the condition, inheritance patterns, clinical features, and available genetic testing options.

In addition to information about specific genes and diseases, OMIM also contains references to scientific articles, clinical trials, and research studies related to HIVEP2-related intellectual disability and other conditions. These resources can provide further insights into the condition and support ongoing research.

Researchers and clinicians can access OMIM for free and use it as a tool to learn more about genes and genetic disorders. This information can be helpful in the diagnosis, management, and treatment of patients with HIVEP2-related intellectual disability.

Patients and families affected by HIVEP2-related intellectual disability can find support and resources through various organizations and patient advocacy groups. These organizations can provide information, connect individuals with specialists, and offer support networks.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource that provides comprehensive information about HIVEP2-related intellectual disability and other genetic disorders. It is a reliable source for researchers, clinicians, and individuals seeking information about rare genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including intellectual disability. In the context of HIVEP2-related intellectual disability, there are several articles available that provide additional information about this condition and its associated genetic causes.

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of human genes and genetic disorders. It contains detailed information on the HIVEP2 gene, as well as the neurological and developmental delay associated with HIVEP2-related intellectual disability. PubMed provides links to numerous articles related to HIVEP2 and its role in intellectual disability.

Studies have shown that mutations in the HIVEP2 gene are associated with intellectual disability. These mutations can cause a range of symptoms, including physical and neurological abnormalities. PubMed offers a wealth of information on various aspects of HIVEP2-related intellectual disability.

In addition to PubMed, there are other resources available for patients and families affected by HIVEP2-related intellectual disability. The National Institutes of Health’s ClinicalTrials.gov website provides information about ongoing clinical trials and research studies related to this condition. This website can be helpful for finding information about potential treatment options and participating in research studies.

The HIVEP2-related intellectual disability is considered a rare condition, and therefore, information about it is relatively limited. However, with ongoing research and advancements in genetic testing, more is being learned about this condition. Scientific articles available on PubMed provide important insights into the causes and characteristics of HIVEP2-related intellectual disability.

Advocacy and patient support organizations can also be valuable resources for individuals and families affected by HIVEP2-related intellectual disability. These organizations often provide information, support, and advocacy for individuals with rare genetic conditions.

In summary, PubMed is a valuable resource for finding scientific articles on HIVEP2-related intellectual disability. It offers a wealth of information on the associated genes, clinical features, and research studies related to this condition. Additional resources, such as ClinicalTrials.gov and patient support organizations, can also provide valuable information and support for individuals and families affected by HIVEP2-related intellectual disability.

References

• Hivep2-related intellectual disability – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/hivep2-related-intellectual-disability
• Tahira, A. C., Dahl, N., et al. (2018). Novel HIVEP2 mutations in developmental and epileptic encephalopathy: Report of two cases and review of the literature. European Journal of Medical Genetics, 61(11), 653-659.
• HIVEP2-related intellectual disability – OMIM. Retrieved from https://omim.org/entry/614727
• HIVEP2 – Gene – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/gene/59269
• Rare Diseases Clinical Research Network. (n.d.). HIVEP2-related intellectual disability. Retrieved from https://www.rarediseasesnetwork.org/cms/cspg/rdrn/By-Category/All-Reports/HIVEP2-related-intellectual-disability
• HIVEP2 – GeneReviews – NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK534813/
• Tahira, A. C., Dahl, N., et al. (2018). Transcription factor HIVEP2 mutation causes autosomal dominant intellectual disability: change of non-truncating to truncating mutation in the evolution of the phenotype. European Journal of Human Genetics, 26(12), 1766-1773.
• HIVEP2-related intellectual disability – NIH Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/13434/hivep2-related-intellectual-disability
• Additional resources for HIVEP2-related intellectual disability. (n.d.). Retrieved from https://www.clinicaltrials.gov/ct2/show/NCT03176096