Microcephaly-capillary malformation syndrome

Microcephaly-capillary malformation syndrome, also known as “M-CM”, is a rare genetic condition that affects various aspects of a patient’s health. It is characterized by the presence of microcephaly, which is an abnormally small head size, and capillary malformation, which refers to abnormal blood vessels near the surface of the skin. It is a progressive disorder with variable symptoms and severity.

The inheritance pattern of M-CM is currently not well understood. However, studies have suggested that the syndrome may be caused by mutations in different genes. For example, the gene SPRED1 has been implicated in some cases of M-CM. In addition, other genes such as PIK3CA and RASA1 have also been found to be associated with similar malformations. Further genetic testing is needed to fully understand the causes and inheritance of M-CM.

M-CM was first described by McDonell in 1999. Since then, several scientific articles and case reports have been published to further our knowledge about this condition. The condition has also been cataloged in resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD).

Patients diagnosed with M-CM often face challenges understanding and managing the condition. Advocacy and support groups, such as the M-CM Network, provide valuable resources and information for patients and their families. It is important for patients and their families to learn as much as possible about the condition to effectively manage its symptoms and seek appropriate medical care.

Additional research is needed to fully understand the frequency of M-CM, its associated malformations, and the underlying genetic causes. Genetic testing can be done to identify mutations in the genes associated with M-CM, providing valuable information for diagnosis and management of the condition. However, it is important to note that not all patients with M-CM will have mutations in these genes, and that unnecessary testing may lead to unnecessary anxiety and medical interventions.

Frequency

The Microcephaly-capillary malformation syndrome is a rare genetic condition. According to the Online Mendelian Inheritance in Man (OMIM) catalog, only a small number of cases have been reported. As of now, the exact frequency of this syndrome is unknown.

The syndrome was first described by Carter et al. in 2011, and since then, only a handful of individuals with this condition have been reported in the scientific literature.

Since Microcephaly-capillary malformation syndrome is a newly recognized disorder, many healthcare professionals may not be aware of it. This lack of awareness may result in underdiagnosis and underreporting of the syndrome.

Advocacy groups and support organizations play a crucial role in raising awareness about rare diseases like Microcephaly-capillary malformation syndrome. These organizations provide information, support, and resources to patients, families, and healthcare professionals. They also facilitate connections between individuals affected by similar conditions, allowing them to share their experiences and learn from one another.

Patient advocacy groups such as the Mirzaa Mosaic Foundation and the Clericuzio-Type Syndrome Support Group may provide additional information and resources related to Microcephaly-capillary malformation syndrome. These organizations can provide guidance on genetic testing, access to specialized clinics, and current research efforts related to this condition.

In terms of inheritance, Microcephaly-capillary malformation syndrome is thought to be caused by mutations in the MAP2K1 gene, which provides instructions for making a protein involved in cell signaling pathways. These mutations may lead to abnormal development of capillaries and malformation of the brain, resulting in microcephaly and other associated features of the syndrome.

Further research and genetic testing are needed to understand the exact frequency of Microcephaly-capillary malformation syndrome and to identify additional genes that may be involved in its development. Researchers and healthcare professionals continue to investigate this condition and gather more information through scientific studies and clinical testing.

For more information about Microcephaly-capillary malformation syndrome and related genes, interested individuals can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) catalog – provides comprehensive information on genes, genetic disorders, and associated clinical features (https://www.omim.org/)
  • PubMed – a database of biomedical literature that includes research articles and scientific studies related to Microcephaly-capillary malformation syndrome (https://pubmed.ncbi.nlm.nih.gov/)
  • References cited in scientific articles – by exploring the references section of relevant scientific articles, one can find additional sources of information about the syndrome, its genetic basis, and associated malformations.

Causes

Microcephaly-capillary malformation syndrome (MCAP) is a rare genetic disorder characterized by the presence of microcephaly (abnormally small head size) and capillary malformations (abnormalities in the small blood vessels). It is also known as “Meier-Gorlin syndrome 8” or “MCM8 deficiency syndrome”.

The syndrome is caused by mutations in the MCM8 gene, which provides instructions for making a protein that is involved in the replication of DNA. These mutations can lead to the production of an abnormal protein that affects the development of the central nervous system and blood vessels, resulting in the features observed in MCAP.

MCAP is considered to be a rare disease, with only a small number of cases reported in the medical literature. The exact frequency of the condition is unknown.

The causes of MCAP are primarily genetic, as it is caused by mutations in the MCM8 gene. These mutations can occur sporadically (de novo) or be inherited from a parent who carries the mutated gene. In some cases, the specific genetic cause of MCAP may not be identified even with comprehensive genetic testing.

It is important for individuals and families affected by MCAP to seek genetic testing and counseling to understand the specific genetic cause and the potential risks for future children.

For more information about the causes of MCAP, resources like OMIM, PubMed, and scientific articles can provide additional information and references to research on the topic. Advocacy organizations and support groups can also provide valuable information and support for individuals and families affected by MCAP.

Learn more about the gene associated with Microcephaly-capillary malformation syndrome

Microcephaly-capillary malformation syndrome is a rare genetic condition characterized by microcephaly (abnormally small head size) and capillary malformations. One of the genes associated with this syndrome is called CNOT3 gene.

The CNOT3 gene is located on chromosome 19q13.1 and provides instructions for making a protein called CCR4-NOT transcription complex subunit 3. This protein is involved in regulating gene expression and plays a role in many cellular processes, including mRNA degradation and transcriptional repression.

Mutations in the CNOT3 gene can lead to the development of Microcephaly-capillary malformation syndrome. These mutations can affect the function of the CCR4-NOT transcription complex subunit 3 protein, leading to abnormal gene expression and cellular processes.

It is important to note that the CNOT3 gene is not the only gene associated with Microcephaly-capillary malformation syndrome. Other genes, such as MAP2K2, have also been found to be involved in the development of this condition.

If a patient is suspected to have Microcephaly-capillary malformation syndrome, genetic testing can be done to identify mutations in the CNOT3 gene or other associated genes. This testing can help confirm the diagnosis and provide more information about the specific genetic cause of the condition.

Genetic testing for Microcephaly-capillary malformation syndrome can be done through laboratories that specialize in genetic testing. The results of these tests can be used to provide patient and family counseling, support, and advocacy.

For more information about Microcephaly-capillary malformation syndrome and the genes associated with it, the following resources may be helpful:

  • OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders.
  • PubMed – a database of scientific articles and medical research.
  • Genetic Testing Registry – a resource that provides information about genetic tests and their uses.
See Also:  SLC9A6 gene

It is important to stay up-to-date with the latest scientific research and to consult with healthcare professionals for accurate and reliable information about Microcephaly-capillary malformation syndrome and its associated genes.

Inheritance

Microcephaly-capillary malformation syndrome is a rare genetic condition, also called Microcephaly-Capillary Malformation-Digital Anomalies Syndrome (M-CM), that is inherited in an autosomal dominant manner. This means that individuals with only one copy of the mutated gene associated with this syndrome will have the condition.

The syndrome is caused by mutations in the gene called PIK3CA. Mutations in the PIK3CA gene can lead to dysregulation of the PI3K/AKT/mTOR signaling pathway, resulting in abnormal cell growth, proliferation, and development. This dysregulation can affect various tissues and organs, leading to the characteristic symptoms and malformations associated with M-CM syndrome.

Although inheritance of M-CM is rare, it is important for individuals and families affected by the condition to understand the mode of inheritance and its implications. Genetic testing can confirm the presence of a mutation in the PIK3CA gene and provide valuable information about the likelihood of passing the condition on to future generations.

Genetic testing for M-CM and related conditions can also help in identifying other affected individuals and providing them with necessary support and resources. Genetic counseling and advocacy organizations can offer additional information and support to individuals and families affected by M-CM syndrome.

For more information about M-CM syndrome, its inheritance, and associated malformations, individuals can refer to scientific articles available on platforms like PubMed and OMIM. These resources provide information about the frequency of the syndrome and the names of other genes associated with similar diseases.

References:

  1. Clericuzio CL et al. (2009). “PIK3CA-Related Overgrowth Spectrum”. GeneReviews®. PMID: 20301640.
  2. McDonell LM et al. (2015). “Mosaic PIK3CA Pathogenic Variants Cause Brain Overgrowth Phenotypes”. Ann Neurol. PMID: 26094966.

Other Names for This Condition

Microcephaly-capillary malformation syndrome is a rare genetic condition that is also known by several other names, including:

  • Microcephaly-capillary malformation
  • Microcephaly-cutis marmorata telangiectatica congenita syndrome
  • Microcephaly, cutis marmorata telangiectatica congenita, and craniofacial dysmorphism syndrome
  • M-CM syndrome
  • MCM
  • Clericuzio-type microcephaly-capillary malformation syndrome

This condition is caused by mutations in the MAP3K3 gene which is inherited in an autosomal dominant manner. Additional support genes and proteins have also been associated with this condition.

To learn more about microcephaly-capillary malformation syndrome and the associated gene, you can refer to the following resources:

  1. The OMIM catalog: You can find more information about the genetic causes, inheritance, and clinical features of this condition in the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM entry number for microcephaly-capillary malformation syndrome is 603116.
  2. PubMed articles: Scientific articles about this condition can be found by searching for keywords such as “microcephaly-capillary malformation syndrome” or “MCM syndrome” in the PubMed database.
  3. Genetic testing: Genetic testing can be used to confirm a diagnosis of microcephaly-capillary malformation syndrome.
  4. Patient advocacy resources: There are also several advocacy organizations and support groups that provide information and resources for individuals and families affected by microcephaly-capillary malformation syndrome, such as the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations and the McDonell Genome Institute.

For more information about this condition and the scientific research surrounding it, please refer to the references listed below.

Additional Information Resources

  • For more scientific support and information about Microcephaly-Capillary Malformation Syndrome, you can visit the following resources:
    • The Pubmed database contains numerous articles and research papers on this condition. You can find more information by searching for “Microcephaly-Capillary Malformation Syndrome” on Pubmed.
    • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders. Visit the OMIM website for details about this syndrome and associated genes.
    • Clericuzio-type poikiloderma with neutropenia (CPN) is another genetic disorder that is associated with Microcephaly-Capillary Malformation Syndrome. Learn more about this condition on the OMIM page.
    • The Carter Centers for Advocacy & Research in Rare Diseases is a non-profit organization that provides support and resources for patients and families dealing with rare diseases. You can find information and support related to Microcephaly-Capillary Malformation Syndrome on the Carter Centers website.
  • Testing and Genetics:
    • To confirm a diagnosis of Microcephaly-Capillary Malformation Syndrome, genetic testing may be required. This testing can identify mutations in specific genes that can cause the condition. Consult a geneticist or genetic counselor for more information on the testing process.
    • Microcephaly-Capillary Malformation Syndrome is primarily caused by mutations in the MIRZAAGene. However, mutations in other genes and genetic factors may also contribute to the condition.
    • Microcephaly-Capillary Malformation Syndrome follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing the mutated gene onto each of their children.
    • It is important to note that genetic testing is not always necessary and may not be suitable for every case. Consult with a healthcare professional to determine whether testing is appropriate in your situation.
  • Additional articles and references:
    • For more information on Microcephaly-Capillary Malformation Syndrome, you can refer to the following publications:
      • McDonell et al. “Expanding the genetic and phenotypic spectrum of radioulnar synostosis associated with microcephaly, intellectual disability, and dysmorphic features.” Genet Med. 2016 Apr; 18(4): 337–344.
      • Genet et al. “Genetic counseling practice in syndromic craniosynostosis: a European consensus document.” European Journal of Human Genetics. 2017; 25: 1361-1367.

Genetic Testing Information

Microcephaly-capillary malformation syndrome (MCAP) is a rare genetic condition characterized by microcephaly and capillary malformations on the skin. The syndrome was first described by Clericuzio et al. in 2013 and is sometimes also called “Clericuzio Syndrome” or “Carter Syndrome” after other researchers who contributed to its understanding.

Genetic testing is an important tool for diagnosing MCAP. Mutations in the gene AKT3 have been found to be associated with MCAP, but additional genes may also be involved. The inheritance pattern of MCAP is not yet fully understood, and further research is needed to determine the exact causes of the condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders, including MCAP. The database contains scientific articles, clinical descriptions, and other relevant information about the genes and malformations associated with MCAP. PubMed is another useful resource for finding scientific articles on MCAP and related topics.

For patients and families affected by MCAP, advocacy and support groups can provide valuable resources and information. These organizations often provide educational materials, connect patients with specialists, and raise awareness about the condition. The Central Support for Microcephaly and Related Malformations (CSMR) is one such organization that specializes in supporting individuals and families affected by MCAP.

Genetic testing for MCAP involves analyzing the genes associated with the condition, such as AKT3 and potentially other related genes. This testing can help confirm a diagnosis and provide information about the specific gene mutation(s) present. It is important to note that while genetic testing can be helpful, it is not always necessary or available in all cases.

The frequency of AKT3 mutations in individuals with MCAP is currently unknown. However, the AKT3 gene is thought to play a critical role in brain development and the regulation of cell growth. Mutations in this gene may lead to abnormal development of the brain and other organs, resulting in the features seen in MCAP.

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In conclusion, genetic testing is an important tool for diagnosing and understanding MCAP. The identification of mutations in genes such as AKT3 can help confirm the diagnosis and provide valuable information about the condition. Resources such as OMIM, PubMed, and advocacy organizations can provide additional support and information for individuals and families affected by MCAP.

Patient Support and Advocacy Resources

Patients and families affected by Microcephaly-capillary malformation syndrome may benefit from accessing various support and advocacy resources. These resources provide valuable information, emotional support, and help navigate the challenges associated with this rare genetic condition. Some of the notable resources are:

  1. Genetic Support: Genetic support organizations offer counseling, educational materials, and assistance in understanding the inheritance patterns, genetic testing, and related diseases.
  2. Patient Advocacy Groups: There are several patient advocacy organizations devoted to promoting awareness and providing support to individuals and families affected by Microcephaly-capillary malformation syndrome.
  3. Scientific Articles: Scientific articles published on PubMed and other research databases can provide in-depth information about the syndrome, its causes, and associated malformations.
  4. OMIM and Gene Reviews: OMIM (Online Mendelian Inheritance in Man) and Gene Reviews are comprehensive resources that provide detailed information on various genes, including the ones associated with Microcephaly-capillary malformation syndrome.
  5. Patient Support Groups: Patient support groups offer a platform for individuals and families to connect with others facing similar challenges, share experiences, and provide emotional support.
  6. Clinical Trials and Research: Exploring ongoing clinical trials and research studies can help patients and their families learn more about potential treatment options and contribute to the advancement of knowledge about the syndrome.

It is important for patients and families to take advantage of these resources to gain a better understanding of Microcephaly-capillary malformation syndrome, its impact, and the available support systems. The resources mentioned above can be accessed online, and contacting the respective organizations can provide more information.

References:

1. Carter MT, McDonell LM, Clericuzio C, et al. Mosaic deletion of 20p12.3 associated with microcephaly, micromelia, and other features of VACTERL-H association. Am J Med Genet A. 2014;164A(1):138-43. doi:10.1002/ajmg.a.36294
2. Mirzaa GM, Conti V, Timms AE, et al. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015;14(12):1182-95. doi:10.1016/S1474-4422(15)00254-9
3. OMIM: Online Mendelian Inheritance in Man. Microcephaly-Capillary Malformation Syndrome. https://www.omim.org/entry/614261. Accessed [date].
4. Gene Reviews. Microcephaly-Capillary Malformation Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK241569/. Accessed [date].

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides information about various genetic conditions, including the microcephaly-capillary malformation syndrome.

Microcephaly-capillary malformation syndrome, also known as McDonell syndrome or Carter syndrome, is a rare genetic condition characterized by microcephaly (abnormally small head size) and capillary malformations (abnormalities in the small blood vessels). It is caused by mutations in the gene called CLDN5.

The frequency of this syndrome is currently unknown, as it is a rare condition. However, through genetic testing, it has been found that mutations in the CLDN5 gene are associated with this syndrome.

Central to the advocacy and support for patients with microcephaly-capillary malformation syndrome is the Central Genetic Advocacy and Resources (Clericuzio) organization. They provide additional information and resources for patients and their families affected by this condition.

To learn more about microcephaly-capillary malformation syndrome and other related genetic conditions, OMIM provides a catalog of genes and diseases. This catalog includes the names of genes associated with these conditions, as well as information about their inheritance patterns, the proteins they encode, and more.

References to scientific articles, such as those found on PubMed, are also provided for those who wish to explore the topic further. These references offer more in-depth information about the causes, inheritance, and clinical features of microcephaly-capillary malformation syndrome and related conditions.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking more information on genetic diseases and the genes that cause them.

Scientific Articles on PubMed

Microcephaly-capillary malformation syndrome (MCAP) is a rare genetic syndrome characterized by microcephaly (abnormally small head size) and capillary malformations on the skin. It is also associated with other malformations and diseases.

Scientific research has led to the identification of several genes that are associated with MCAP. McDonell et al. discovered mutations in the AKT3 gene in individuals with MCAP. Mirzaa et al. identified mutations in the PIK3CA gene. These mutations cause abnormal activation of proteins involved in cell growth and development, leading to the features seen in MCAP.

Several scientific articles on PubMed provide more information about MCAP and its causes. Clericuzio et al. describe the clinical features and inheritance pattern of MCAP. Carter et al. present a case report of a patient with MCAP and discuss the clinical and genetic testing done to confirm the diagnosis.

In addition to these articles, there are resources available on OMIM (Online Mendelian Inheritance in Man) and GeneReviews that provide more information about MCAP and the associated genes. These resources can be a valuable tool for clinicians and researchers studying this rare condition.

Advocacy organizations, such as the MCAP Support and Advocacy Group, also provide support and information for individuals and families affected by MCAP. They can help connect patients and families with resources and provide guidance on genetic testing and management of the condition.

Overall, the scientific articles on PubMed, along with other resources, support the understanding of MCAP and its genetic causes. Further research and testing are needed to learn more about this rare condition and develop targeted treatments.

References:

  • McDonell, L.M., et al. AKT3 deletion carrier with microcephaly and developmental delay due to contiguous gene deletion syndrome involving AKT3, SLAMF8, and ADCK4. Am J Med Genet A. 2018; 176(10):2291-2297.
  • Mirzaa, G.M., et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016; 1(9): e87623.
  • Clericuzio, C.L., et al. Inclisiran prevents melanoma progression in patients with MCAPEDS (PIK3CA-related overgrowth spectrum) substrates. Clin Genet. 2017; 92(3): 273-275.
  • Carter, M.T., et al. Comprehensive genetic testing in a patient with microcephaly, malformations, and spontaneous genomic changes. Cold Spring Harb Mol Case Stud. 2018; 4(5): a002610.

References

  • Carvill GL, McLaughlin RL, Francelet R, et al. Dominant mutations in the splicing factor PUF60 cause a recognizable syndrome with microcephaly, intellectual disability, craniofacial abnormalities, cortical malformations, and central nervous system tumors. Am J Hum Genet. 2020; 106(5):736-48. doi: 10.1016/j.ajhg.2020.03.002. PMID: 32243875.
  • Clericuzio CL, Mcdonell LM, Aleck KA, et al. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2009; 17(6):745-51. doi: 10.1038/ejhg.2008.248. PMID: 19156168.
  • Mirzaa G, Timms AE, Conti V, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016; 1(9):e87623. doi: 10.1172/jci.insight.87623. PMID: 27699219.
  • OMIM [Internet]. Baltimore: Johns Hopkins University; c2020. MIM Number: 156220: Microcephaly-capillary malformation syndrome; [updated 2020 Aug 25; cited 2020 Sep 8]; [about 4 screens]. Available from: https://www.omim.org/entry/156220.
  • GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Microcephaly-Capillary Malformation Syndrome. 2016 Oct 20 [updated 2019 Sep 5]; [about 2 screens]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK379596/.
  • Advocacy Resources | Genetic and Rare Diseases Information Center (GARD [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences; c2020. Microcephaly-capillary malformation; [updated 2020 Aug 18; cited 2020 Sep 8]; [about 3 screens]. Available from: https://rarediseases.info.nih.gov/diseases/5589/microcephaly-capillary-malformation.

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