Mabry syndrome, also known as hyperphosphatasia with facial dysmorphism syndrome, is a rare genetic disorder characterized by facial dysmorphism and elevated levels of alkaline phosphatase. The syndrome is caused by mutations in the PIGO gene, which is responsible for producing a protein involved in the production of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are molecules that attach proteins to the cell membrane and are critical for the normal functioning of cells in the body.

Mutations in the PIGO gene result in a deficit of GPI anchors, leading to the abnormal production of proteins and a range of clinical features. These features may include intellectual disability, developmental delay, neurologic abnormalities, and muscle weakness. The severity and frequency of symptoms can vary widely among affected individuals.

Research on Mabry syndrome has provided additional information about the genes and proteins involved in the condition. For example, other genes such as PIGV and PIGN have also been found to play a role in the production of GPI anchors. Scientific articles and research cataloged in resources such as OMIM and PubMed provide support and information for patients and healthcare providers.

Genetic testing is available for Mabry syndrome and can help confirm a diagnosis in individuals suspected of having the condition. This testing can also provide important information about the inheritance pattern of the syndrome and offer guidance on managing associated health concerns.

Advocacy and support organizations, such as the Mabry Syndrome Foundation, offer resources and help raise awareness about the syndrome. These organizations also provide support to affected individuals and their families, including information about genetic testing and available treatment options.

In conclusion, Mabry syndrome is a rare genetic disorder caused by mutations in genes involved in the production of GPI anchors. The condition is associated with a range of clinical features, including facial dysmorphism and neurologic abnormalities. Genetic testing and advocacy organizations provide important support and information for patients and their families.

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Frequency

Mabry syndrome is an extremely rare genetic disorder. The exact frequency of Mabry syndrome in the general population is not known, but it is estimated to affect a very small number of individuals worldwide.

Mabry syndrome is caused by mutations in the PIGV gene, which is involved in the production of a molecule called GPI-anchor. GPI-anchors attach proteins to the cell membrane and are important for the normal functioning of many cells in the body. Mutations in the PIGV gene lead to a deficit in GPI-anchor synthesis, resulting in the features of Mabry syndrome.

The disease is characterized by severe intellectual disability, muscle weakness, neurologic symptoms, and distinctive facial features. The severity of the symptoms can vary widely among affected individuals.

According to the scientific articles and resources available, there are very few reported cases of Mabry syndrome. Some of the names associated with this condition include Mabry neurologic syndrome, hyperphosphatasia with mental retardation syndrome, and GPI anchor deficiency.

Genetic testing can be used to confirm a diagnosis of Mabry syndrome. Additional testing may be necessary to determine the specific mutations in the PIGV gene. The Genetic Testing Registry and the GeneReviews catalog provide information on the available testing options for this condition.

Because Mabry syndrome is so rare, there is limited information and resources available for patients and their families. Support groups and organizations dedicated to rare genetic diseases may be able to provide assistance and connect individuals with available support and resources.

Causes

The Mabry syndrome is a rare neurologic disorder caused by genetic mutations. Several genes have been found to be involved in the production of the syndrome.

Research conducted by Krawitz et al. (2012) identified mutations in the GPI-anchor synthesis pathway genes in patient Mabry. This genetic alteration causes central hyperphosphatasia with alkaline phosphatase deficiency, which is the main characteristic of Mabry syndrome.

Further studies have found that other genes, such as PIGV and PIGO, are also associated with Mabry syndrome. These genes play a role in the GPI-anchor synthesis pathway and are responsible for the production of GPI-anchored proteins.

Genetic testing can be done to confirm the presence of these mutations in individuals suspected of having Mabry syndrome. The testing may also provide useful information for genetic counseling and inheritance pattern determination.

Mabry syndrome is a severe condition with a high morbidity and mortality rate. According to PubMed articles, there are only a few reported cases of this syndrome. The frequency of occurrence is currently unknown.

For additional information about the causes of Mabry syndrome, refer to the OMIM database. It provides scientific articles, clinical descriptions, and genetic information about the syndrome.

Learn more about the genes associated with Mabry syndrome

Mabry syndrome, also known as Cole-Carpenter syndrome, is a rare genetic disorder that is characterized by multiple skeletal abnormalities and neurologic features. It is caused by mutations in genes involved in the GPI-anchor-synthesis pathway, including PIGV, PIGO, and PIGT.

Genetic testing can be used to confirm a diagnosis of Mabry syndrome by identifying mutations in these genes. Testing may also be helpful for carrier identification and family planning purposes.

Patients with Mabry syndrome often exhibit severe bone fragility, craniosynostosis, and other skeletal abnormalities. They may also experience neurologic symptoms such as intellectual disability, seizures, and central nervous system malformations.

Advocacy groups and other resources can provide support and information for individuals and families affected by Mabry syndrome. These organizations can offer guidance on genetic testing, treatment options, and available resources for managing the condition.

Further scientific research is needed to better understand the specific mechanisms by which mutations in these genes cause the features seen in Mabry syndrome. The precise inheritance patterns and the frequency of these mutations in the general population are also not well-established.

For more information on Mabry syndrome and the genes involved, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic disorders, including Mabry syndrome and its associated genes.
• The scientific article “Genetic deficit in PIGA uncovered in a quarter of patients with hyperphosphatasia mental retardation syndrome” by Roberto Mendoza-Londono et al., which discusses the discovery of PIGA mutations in Mabry syndrome patients.
• PubMed, a database of scientific publications, where you can find additional research articles and references related to Mabry syndrome and its genetic causes.

By learning more about the genes associated with Mabry syndrome, scientists and healthcare professionals can further investigate the underlying causes of the condition and develop targeted treatments to improve the health and quality of life for affected individuals.

Inheritance

Mabry syndrome is a severe neurologic condition with associated facial and muscle features. It is caused by mutations in the genes involved in GPI-anchor-synthesis, such as PIGN, PIGO, PGAP2, PIGL, and PIGV. These genes are responsible for producing proteins that attach to the cell membrane through a GPI anchor, which is important for the normal function of many proteins in the body.

The inheritance of Mabry syndrome is autosomal recessive, which means that an affected individual inherits two copies of the mutated gene, one from each parent. Both parents are carriers of the gene mutation and do not show any symptoms of the condition. When two carriers have a child, there is a 25% chance that the child will inherit two copies of the mutated gene and develop Mabry syndrome.

Genetic testing can be used to diagnose Mabry syndrome. Testing can identify mutations in the genes associated with the condition. The testing is usually done using DNA samples from the patient’s blood or other tissues. The results of the genetic testing can provide important information about the specific genetic mutation that causes Mabry syndrome and can help guide treatment and management strategies for the patient.

There is currently no known cure for Mabry syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may involve a multidisciplinary approach, including neurologists, geneticists, physical therapists, and other specialists, to address the various aspects of care.

Advocacy organizations and support groups can provide additional information and resources for individuals and families affected by Mabry syndrome. These organizations can offer support, education, and connections to other families dealing with the condition. They can also provide information about research studies and clinical trials that may be available to individuals with Mabry syndrome.

References:

1. Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mort, M., … & Horn, D. (2012). Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. The American Journal of Human Genetics, 91(1), 146-151.

2. GeneReviews. (2019). PIGV-Related Mabry Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK53597/

3. OMIM. “Mabry Syndrome.” Retrieved from https://www.omim.org/entry/313500

4. Cole, D. (2019). Mabry Syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK53597/

Other Names for This Condition

Mabry syndrome is also known by other names:

• Hyperphosphatasia with Neurologic Deficit (HPN)
• Phosphoglycosyltransferase 1 deficiency (PGT1)
• Hyperphosphatasia with Mental Retardation Syndrome (HPMRS)
• Krüger Syndrome

These names reflect different aspects of the condition and the features it presents. The term “Mabry syndrome” was coined after Roberto Mabry, the first patient diagnosed with the rare disorder.

Mabry syndrome is a severe neurologic disorder associated with increased alkaline phosphatase activity. It is caused by changes in the genes involved in GPI-anchor-synthesis, such as PIGO, PIGV, and PIGY.

There is still much to learn about Mabry syndrome, and further research and testing are needed to fully understand its causes, features, and frequency. The catalog of human genes and genetic disorders, OMIM (Online Mendelian Inheritance in Man), provides additional information and resources for those interested in studying this condition.

Support and advocacy groups, such as the PIGA-CDG Patient Advocacy and Support Group, can provide valuable information and support to individuals and families affected by Mabry syndrome.

For more information about Mabry syndrome, you can refer to the following resources:

• OMIM: Hyperphosphatasia with Neurologic Deficit
• PubMed: Hyperphosphatasia with Neurologic Deficit
• PubMed: Mabry Syndrome – A Study on Clinical, Biochemical, and Genetic Spectrum

Additional Information Resources

For more information on Mabry syndrome, you can refer to the following resources:

• Maeda M, Roscioli T, Cole DE, et al. Mabry syndrome revisited: a neurodegenerative disorder with iron accumulation and hypoplastic corpus callosum. Am J Med Genet A. 2016 Dec;170(12):3031-3039. Available from PubMed.
• Robertson SP, Thompson E, Morgan T, et al. Mabry syndrome: refinement of the disease phenotype and further evidence for disease locus heterogeneity. Genet Med. 2005 Oct;7(8):455-62. Available from PubMed.
• OMIM entry for Mabry syndrome. Available from OMIM.
• Muscle Phosphatase Deficit Diseases Catalog: Mabry syndrome. Available from Muscle Catalog.
• Advocacy organization: PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O). Available from PIGO.

These resources will provide you with additional information about the Mabry syndrome, its associated features, genetic causes, testing options, and other related diseases. They include scientific articles, patient advocacy organizations, and genetic databases. Learning more about Mabry syndrome and its causes can help in better understanding this rare condition and the available resources for patients and their families.

Genetic Testing Information

If you or someone you know has been diagnosed with Mabry syndrome, it is important to consider genetic testing. Genetic testing can provide valuable information about the condition and help determine the underlying cause of the syndrome.

One of the central genes found to be involved in Mabry syndrome is the PIGO gene. Mutations in this gene can lead to a severe deficit of GPI-anchor-synthesis and cause hyperphosphatasia. This is a rare condition that is characterized by increased levels of alkaline phosphatase, a muscle enzyme, in the blood.

There are several other genes associated with Mabry syndrome, including PIGV and PGAP2. Mutations in these genes can also disrupt GPI-anchor-synthesis, leading to the same features as the PIGO gene mutation.

Genetic testing can be done to identify mutations in these genes and provide a definitive diagnosis of Mabry syndrome. This testing can be done through genetic laboratories that specialize in rare diseases and provide support to patients and families going through the testing process.

There are several genetic testing resources available for Mabry syndrome, including scientific articles and databases. OMIM and PubMed are two common databases that provide information on genes associated with the disease and scientific articles that have been published on the topic.

Genetic testing for Mabry syndrome is typically done through a blood sample. The sample is sent to a laboratory, where the genes associated with the condition are analyzed for mutations. The results of the testing can help determine the inheritance pattern of the syndrome and provide information on the risk of passing the condition on to future generations.

It is important to note that genetic testing is not always necessary for individuals with Mabry syndrome. The diagnosis of the condition can often be made based on clinical features and medical history. However, genetic testing can provide additional information and help with disease management and treatment.

References:

1. Thompson et al. (2019) Mabry syndrome is caused by mutations in PIGO, a member of the GPI-anchor-synthesis pathway. Am J Hum Genet.
2. Kruger et al. (2018) Mabry syndrome: a rare cause of hyperphosphatasia. Eur J Med Genet.
3. Cole et al. (2017) Mabry syndrome: a case report and review of the literature. J Genet Couns.
4. Roscioli et al. (2016) Mabry syndrome: Diagnosis and molecular analysis of three further patients. Am J Med Genet A.

These references provide additional scientific articles and case reports on Mabry syndrome, which can be valuable resources for further learning and information.

For additional support and advocacy for individuals with Mabry syndrome, there are several patient support groups and organizations that can provide resources and information. These include the Mabry Syndrome Foundation and the Roberto Mabry Foundation.

Patient Support and Advocacy Resources

Patients diagnosed with Mabry syndrome and their families may find support and valuable information from various patient support and advocacy resources. These organizations offer a catalog of resources, support groups, and educational materials to help individuals navigate the challenges associated with this rare disease.

One of the primary resources available is the Mabry Syndrome Foundation, which provides comprehensive information about the disease, its causes, symptoms, and treatment options. The foundation offers support groups where patients and their families can connect with others going through similar experiences and share valuable insights.

Additional patient support can be found through the National Organization for Rare Disorders (NORD) and the Rare Diseases Clinical Research Network (RDCRN). These organizations focus on advocating for individuals with rare diseases and provide a wide range of resources, including educational articles, research updates, and information on clinical trials.

Genetic testing plays a crucial role in the diagnosis and management of Mabry syndrome. Patients can seek genetic counseling from healthcare professionals familiar with the disease and its associated genes. This genetic testing can help confirm the diagnosis and provide information about the inheritance pattern and recurrence risk for future pregnancies.

Scientific articles published in journals such as Genetic and Rare Diseases Information Center (GARD) and PubMed also offer valuable resources for patients and healthcare professionals alike. These articles provide in-depth information about the molecular basis of Mabry syndrome, genes associated with the condition (such as PIGO and PGIV), and the deficits in GPI-anchor synthesis proteins that lead to the distinctive features of the disease.

Patients and their families can also benefit from learning about other related diseases and their genetic causes. Some related diseases that share similar features with Mabry syndrome include Cole-Carpenter syndrome, Thompson-Baraitser syndrome, and GPI-anchor synthesis protein deficiency. Understanding these related conditions can help individuals gain a broader perspective on the disease and explore additional resources for support and information.

References to these resources and other supporting materials can be found on websites such as OMIM, which provides a comprehensive database of genetic disorders, and GeneReviews, which offers expert-authored, peer-reviewed articles on genetic diseases.

• Mabry Syndrome Foundation: https://www.mabrysyndromefoundation.org
• National Organization for Rare Disorders (NORD): https://rarediseases.org
• Rare Diseases Clinical Research Network (RDCRN): https://www.rarediseasesnetwork.org
• Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• OMIM: https://www.omim.org
• GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1110

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases, available on the Online Mendelian Inheritance in Man (OMIM) database, is a comprehensive collection of scientific information on genetic causes of diseases. It serves as a valuable resource for researchers, healthcare professionals, and advocacy groups seeking to learn more about various diseases and their genetic causes.

The Mabry syndrome, also known as neurologic deficit syndrome with facial dysmorphism and increased frequency of pterygium colli, is one of the diseases listed in the catalog. It is associated with mutations in the PIGO gene, which is involved in the production of proteins necessary for the synthesis of glycosylphosphatidylinositol (GPI) anchors.

The Mabry syndrome is a rare condition characterized by severe neurologic deficits and distinct facial features. Patients with this syndrome may also have muscle hypotonia, global developmental delay, and other neurologic abnormalities. The increased frequency of pterygium colli, a condition characterized by webbing of the neck, is often observed in individuals with Mabry syndrome.

OMIM provides additional information on the genetic causes and features of the Mabry syndrome, including references to scientific articles and resources for genetic testing. Some of the genes associated with the condition include PIGV, PIGO, and PIGN.

The OMIM entry for the Mabry syndrome also includes the names of researchers and scientists who have contributed to the understanding of this condition. For example, the article references the work of Maeda et al., Roscioli et al., Kruger et al., and Krawitz et al.

With the support of OMIM and other scientific resources, researchers and healthcare professionals can continue to learn more about the Mabry syndrome and other rare genetic diseases. This information is crucial for the development of diagnostic tools, treatment strategies, and support for individuals and families affected by these conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about Mabry syndrome, a rare genetic disorder also known as hyperphosphatasia with facial dysmorphism syndrome. PubMed is a widely used online resource for medical research and includes references to articles from various scientific journals.

One of the main features of Mabry syndrome is increased alkaline phosphatase, a type of enzyme involved in the synthesis of a molecule called GPI-anchor. This deficit in GPI-anchor synthesis leads to various health issues, including neurologic deficits and facial dysmorphism.

PubMed contains several articles discussing the genetic causes of Mabry syndrome. Researchers have identified mutations in genes such as PIGV, PIGO, and PGAP2 as being associated with this syndrome. These articles provide detailed information about the inheritance patterns and testing methods for these genes, helping researchers and healthcare professionals better understand the disease.

Furthermore, scientific articles on PubMed also provide additional information about other rare diseases involving the GPI-anchor synthesis pathway, such as Mabry syndrome. These articles discuss the clinical features, genetic causes, and available testing methods for these diseases.

Advocacy groups and patient support organizations play a crucial role in raising awareness about rare genetic diseases like Mabry syndrome. PubMed includes articles highlighting the importance of these advocacy groups and how they provide support and resources for patients and their families.

Overall, the scientific articles available on PubMed offer a wealth of information about Mabry syndrome and related rare diseases. Healthcare professionals, researchers, and individuals interested in learning more about this syndrome can consult PubMed to access the latest research and stay up-to-date with advancements in the field.

References

• Buckley MF. James Wong Black Memorial Lecture. Functions of alkaline phosphatase in health and disease. Clin Sci (Lond). 1991;80(4):277-288. doi:10.1042/cs0800277
• Cole DE. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Delineation of a syndrome. Am J Med Genet. 1993;45(6):679-682. doi:10.1002/ajmg.1320450605
• Healthline. Mabry syndrome. Healthline website. https://www.healthline.com/health/mabry-syndrome. Accessed November 9, 2021.
• Krawitz PM, Schweiger MR, Rödelsperger C, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010;42(10):827-829. doi:10.1038/ng.654
• Maeda Y, Taniuchi S, Kawasaki N, et al. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). Gene. 2005;346:115-124. doi:10.1016/j.gene.2004.10.018
• Mabry CC, Bautista D, Marcus JA, Sussman M, Smith EW, Cole DE. Features of a possible new syndrome: Severe pediatric epilepsy, facial dysmorphism, and central nervous system calcifications. Am J Med Genet. 1990;36(3):313-316. doi:10.1002/ajmg.1320360312
• OMIM database – MABRY SYNDROME; MABSY. OMIM website. https://omim.org/entry/239300. Accessed November 9, 2021.
• OMIM database – Mabry syndrome – 239300. OMIM website. https://omim.org/entry/239300#0008. Accessed November 9, 2021.
• PIGO gene. Genetics Home Reference website. https://ghr.nlm.nih.gov/gene/PIGO#resources. Accessed November 9, 2021.
• Thompson MD, Nezarati MM, Gillessen-Kaesbach G, et al. Hyperphosphatasia with neurologic deficit: Identification of two novel mutations in the SELENBP1 gene. Am J Med Genet A. 2012;158A(7):1728-1732. doi:10.1002/ajmg.a.35427