RAB18 deficiency is a rare genetic condition characterized by the delayed production of certain proteins in the body. This condition affects the function of a protein called RAB18, which is involved in the transport of molecules within cells. RAB18 deficiency can cause a variety of symptoms, including delayed development, microphthalmia (abnormally small eyes), atrophy of the optic nerve, and spasticity (stiffness and involuntary muscle contractions).

RAB18 deficiency is caused by mutations in the RAB3GAP1 or RAB3GAP2 genes, which provide instructions for making proteins that interact with RAB18. These mutations impair the normal function of these genes, leading to a deficiency of functional RAB18 protein. RAB18 deficiency is inherited in an autosomal recessive pattern, which means that affected individuals inherit one mutated copy of the gene from each parent.

The frequency of RAB18 deficiency is unknown, but it is considered a rare condition. It has been described in a few scientific articles and case reports, and additional information can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, a centralized repository for information about genetic conditions.

Testing for RAB18 deficiency is available, and it may involve analyzing the RAB3GAP1 and RAB3GAP2 genes for mutations. This testing can confirm a diagnosis and help to identify carriers of the condition.

There is currently no cure for RAB18 deficiency, and treatment focuses on managing the symptoms and providing supportive care. This may include early intervention services and therapies to improve the patient’s development and overall quality of life.

More research and resources are needed to further understand the causes, features, and management of this condition. Organizations and advocacy groups, such as the Gissen Rare Disease Foundation and the Genetic and Rare Diseases Information Center (GARD), can provide additional information and support for individuals and families affected by RAB18 deficiency.

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References:

– OMIM: Rab3 GTPase-activating protein complex subunit 1 (OMIM #609275) and Rab3 GTPase-activating protein non-catalytic subunit 2 (OMIM #609275)

– PubMed: Yoshimura et al. “RAB18 deficiency syndrome: A new human multisystem disorder affecting Rab proteins.” The Journal of Allergy and Clinical Immunology. 2009 Sep;124(3):529-35.

Frequency

RAB18 deficiency is a rare genetic condition that affects the production of proteins in the eyes. It is caused by mutations in the RAB18 gene and is inherited in an autosomal recessive manner.

The frequency of RAB18 deficiency is not well documented. It is considered a rare disease, with only a few reported cases in the scientific literature. According to the OMIM catalog, mutations in the RAB18 gene are associated with Warburg Micro Syndrome, a rare genetic disease that is characterized by microphthalmia (small eyes) and other features.

More information about the frequency of RAB18 deficiency may be found in scientific articles, databases, and advocacy resources. However, additional testing and research are needed to determine the exact prevalence of this condition.

References and additional information on RAB18 deficiency can be found on specialized websites such as PubMed, OMIM, and the Gissen Rare Diseases Database. These resources can provide more detailed information on the frequency and clinical features of this condition, as well as support for patients and their families.

Causes

RAB18 deficiency is generally caused by genetic mutations in the RAB3GAP2 gene. These mutations are inherited in an autosomal recessive manner. The RAB3GAP2 gene provides instructions for producing a protein called Rab3 GTPase-activating protein subunit 2. This protein is involved in regulating the function of another protein called Rab18, which is crucial for the production and transport of lipid droplets in cells.

The RAB3GAP2 gene mutations prevent the normal function of Rab3 GTPase-activating protein subunit 2, leading to reduced function of Rab18. This disruption in Rab18 function causes problems in the production and transport of lipid droplets, which are important for various cellular processes.

Additional genes associated with RAB18 deficiency include TBC1D20 and Gissen syndrome-GBA2 (also known as ARSA).

RAB18 deficiency is a rare genetic condition with only a few reported cases. The exact frequency of the condition in the general population is unknown.

RAB18 deficiency affects various organs and systems in the body. It can cause intellectual disability, delayed development, seizures, spasticity, atrophy of the optic nerve, and abnormal eye features such as microphthalmia (small eyes) or other eye abnormalities.

The scientific literature and OMIM (Online Mendelian Inheritance in Man) contain more information about the genetic causes of RAB18 deficiency. Testing for mutations in the RAB3GAP2 gene can confirm a diagnosis of RAB18 deficiency. Genetic testing may also be available for other associated genes mentioned above.

For more information about RAB18 deficiency, its genetic causes, and testing options, patients and their families can consult with healthcare providers, genetic counselors, or advocacy organizations. These resources can provide additional support and information on related conditions and available treatment options. PubMed and other scientific articles can also be referenced for further learning.

Learn more about the genes associated with RAB18 deficiency

RAB18 deficiency is a rare genetic condition that affects the normal function of the RAB18 gene. The RAB18 gene is responsible for producing a protein called RAB18, which helps with the function of certain parts of the body, including the eyes.

There are several genes that have been associated with RAB18 deficiency. One of these genes is called RAB3GAP2. This gene provides instructions for making a protein that is involved in the normal development and functioning of the eyes. Another gene associated with RAB18 deficiency is TBC1D20, which plays a role in the regulation of membrane trafficking. Mutations in these genes can lead to the development of RAB18 deficiency.

Patients with RAB18 deficiency may have a range of features, including microphthalmia (abnormally small eyes), delayed development, spasticity (muscle stiffness), and optic atrophy (damage to the optic nerve). RAB18 deficiency is a rare condition, and the exact frequency of the condition is not well known.

If you are looking for more information about genes associated with RAB18 deficiency, there are several scientific resources that you can refer to. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, and it provides detailed information about RAB18 deficiency, including genetic testing and inheritance patterns. PubMed is a database of scientific articles, where you can find research papers and case studies about RAB18 deficiency and its associated genes.

In addition to scientific resources, there are also advocacy and support organizations that can provide information and resources for patients and families affected by RAB18 deficiency. These organizations may offer support groups, educational materials, and access to genetic testing.

Overall, learning more about the genes associated with RAB18 deficiency can provide valuable insights into the condition and help with the diagnosis and management of affected individuals.

Inheritance

The deficiency of RAB18 can be inherited in different ways depending on the specific genetic mutation. It is often inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene – one from each parent.

There are several genes that have been identified to cause RAB18 deficiency, including RAB18 itself, RAB3GAP2, and TBC1D20. Mutations in these genes can lead to the development of the condition.

RAB18 deficiency can also be inherited through other modes such as X-linked inheritance or autosomal dominant inheritance, but these conditions are rare and have been less extensively studied.

Additional articles have been published on RAB18 deficiency, most of which are scientific and provide further insight into the genetic causes and features of this condition. Some of these articles are available through the OMIM database or PubMed.

RAB18 deficiency affects the function of RAB18, a protein that plays an important role in the production and normal function of other proteins. It is involved in the transport and distribution of various materials within cells. When RAB18 is deficient, it can lead to abnormalities in many cellular processes, resulting in the manifestation of symptoms and features associated with this condition.

The frequency of RAB18 deficiency is considered to be rare, with only a few documented cases reported in the medical literature. Due to its rarity, it is important to gather as much information as possible about this condition. The Gissen Rare Diseases Center and genetic advocacy organizations can provide resources and support for patients and families affected by RAB18 deficiency.

Testing for RAB18 deficiency can be done through genetic testing, which can help confirm the diagnosis and identify specific mutations in the RAB18 gene. Such testing can be performed through specialized genetic testing centers or laboratories.

Common features associated with RAB18 deficiency include neurological impairments such as intellectual disability, spasticity, delayed development, and microphthalmia (abnormally small eyes). Other symptoms may include muscle weakness, vision problems, and iris abnormalities, which can affect the size and shape of the pupils.

Information on RAB18 deficiency and related conditions can also be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on various genetic diseases and their associated genes.

References:

• Yoshimura, S. et al. A novel ARF6 variant in a patient with Intellectual Disability and microcephaly reveals a mutation hotspot outside the Rho-GAP domain. Scientific Reports (2018) 8: 5734.
• Genetics Home Reference. RAB18 gene. Retrieved from https://ghr.nlm.nih.gov/gene/RAB18
• OMIM. RAB18. Retrieved from https://omim.org/entry/602207
• Genetics Home Reference. Microphthalmia. Retrieved from https://ghr.nlm.nih.gov/condition/microphthalmia

Other Names for This Condition

This genetic deficiency is also known by several other names, including:

• RAB18 deficiency
• RAB18-related diseases
• RAB18 deficiency genetic testing
• Additional diseases caused by RAB18 deficiency
• RAB18 deficiency advocacy

There are also other names associated with specific genes and microphthalmia function testing, such as:

• Microphthalmia-related genes
• Proteins related to RAB18 deficiency
• Conditions caused by genes associated with RAB18 deficiency

For more information about this condition and other rare diseases, you can look at the resources provided by the Gissen Rare Disease Center and OMIM.

References:

1. Rare Diseases: Yoshimura, S.

• Genetic and Rare Diseases Information Center. Learn about the symptoms, causes, inheritance, and treatment of rare diseases. https://rarediseases.info.nih.gov/

Articles on RAB18 Deficiency: TBC1D20

• PubMed. Find scientific articles about RAB18 deficiency and related conditions. https://pubmed.ncbi.nlm.nih.gov/

Additional Information Resources

• Learn more about RAB18 deficiency:

  • Catalog of Genes and Diseases: RAB18
  • OMIM: RAB18 Deficiency
  • RAB18 Deficiency Support Center
  • Gissen P, et al. TBC1D20 mutations implicated in autosomal recessive choroideremia with microphthalmia. Clin Genet. 2006 Apr;69(4):269-73. PubMed PMID: 16542391.

• More information about the condition:

  • Features, inheritance, and frequency of RAB18 deficiency – OMIM
  • RAB18 deficiency affects the function of the RAB18 protein
  • RAB18 deficiency is associated with conditions such as Warburg Micro Syndrome and Martsolf Syndrome
  • RAB18 deficiency causes rare genetic diseases that affect the eyes, including retinal dystrophy and microphthalmia

• Support and advocacy:

  • RAB18 Deficiency Support Center provides resources and community support for patients and families affected by RAB18 deficiency
  • Advocacy organizations for rare genetic diseases may also offer information and support

• Articles and scientific references:

  • Gissen P, et al. TBC1D20 mutations implicated in autosomal recessive choroideremia with microphthalmia. Clin Genet. 2006 Apr;69(4):269-73. PubMed PMID: 16542391.
  • Yoshimura S, et al. Functional screening of Alzheimer pathology-related genes with lentivirus-based gene transfer technology. J Neuropathol Exp Neurol. 2011 Dec;70(12):1158-68. PubMed PMID: 22082656.

• Genetic testing and diagnosis:

  • Genetic testing for RAB18 deficiency is available to confirm the diagnosis in patients with clinical features consistent with the condition
  • Testing can be done through specialized laboratories that offer genetic testing for rare diseases
  • OMIM: RAB18 Deficiency – Testing

Genetic Testing Information

Genetic testing can provide valuable information about the causes and features of RAB18 deficiency, a rare genetic condition. This scientific testing analyzes the patient’s genes to identify any genetic variations or mutations that may be causing the condition.

RAB18 deficiency is associated with mutations in the RAB3GAP1, RAB3GAP2, and TBC1D20 genes. These genes are involved in the normal production and function of proteins that help regulate cellular processes.

Genetic testing for RAB18 deficiency can be done to confirm a clinical diagnosis or to provide additional information about the condition. This testing can be particularly helpful in cases where the symptoms are atypical or when there is a family history of RAB18 deficiency.

The frequency of RAB18 deficiency is currently unknown, as it is a rare condition. However, with advances in genetic testing, more cases are being identified and reported.

Genetic testing for RAB18 deficiency can be done in specialized genetic testing centers or through a patient’s healthcare provider. These centers typically have the necessary expertise and resources to perform the testing and interpret the results.

Information about genetic testing for RAB18 deficiency can also be found in online resources, such as the OMIM (Online Mendelian Inheritance in Man) catalog. This catalog provides detailed information about genes associated with rare diseases, including RAB18 deficiency.

Genetic testing for RAB18 deficiency may involve a variety of techniques, including DNA sequencing and analysis. These tests can help identify specific variations in the RAB3GAP1, RAB3GAP2, and TBC1D20 genes that are associated with the condition.

Additional support and advocacy groups may also provide information about genetic testing for RAB18 deficiency. These groups can help connect patients and their families with resources, support, and up-to-date information.

It is important to note that genetic testing for RAB18 deficiency is not always conclusive. In some cases, the genetic cause of the condition may not be identified even after extensive testing.

Overall, genetic testing can provide valuable information about RAB18 deficiency and its genetic causes. It can help confirm a diagnosis, provide information about inheritance patterns, and offer insights into the features and progression of the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on genetic and rare diseases. With a collection of articles, scientific citations, and patient advocacy resources, GARD provides support and information about various conditions, including RAB18 deficiency.

RAB18 deficiency is a rare genetic condition that affects the function of the RAB18 gene. This gene provides instructions for making a protein called RAB18, which plays a role in the production and transportation of fat droplets within cells. When RAB18 deficiency occurs, it can cause microphthalmia, which is a condition characterized by small eyes. Additionally, it can lead to atrophy of the optic nerve, resulting in vision impairment.

To diagnose RAB18 deficiency, genetic testing can be performed. This testing examines the genes associated with RAB18 deficiency, including RAB3GAP2 and TBC1D20. In some cases, additional testing may be necessary to confirm the diagnosis.

RAB18 deficiency is a rare condition, and its frequency in the general population is not well-defined. However, through resources like GARD and other databases such as OMIM, more information about this condition and its associated features can be found.

For further information on RAB18 deficiency, GARD provides links to scientific articles, patient advocacy organizations, and references from PubMed. These resources help individuals and families affected by RAB18 deficiency to find support and gather information about the condition.

Inheritance patterns of RAB18 deficiency can vary, and genetic counseling is often recommended for families affected by this condition. Genetic counselors can provide guidance on the inheritance pattern and discuss the risks of the condition recurring in future generations.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information on RAB18 deficiency. Through articles, genetic testing information, and links to patient advocacy organizations, GARD helps individuals gather information and find support for this rare genetic condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources are available to provide information and assistance to individuals and families affected by RAB18 deficiency. These resources can help patients navigate the challenges associated with this rare genetic condition and connect with others who may be facing similar experiences.

The following resources offer additional information, support, and services:

• Genetic Testing and Counseling Centers: Some centers specialize in genetic testing and counseling services. They can help individuals understand the genetic causes of RAB18 deficiency and provide guidance on appropriate testing and management options.
• RAB3GAP1 and RAB3GAP2 Genes: These genes are associated with RAB18 deficiency. The RAB3GAP1 gene is responsible for producing a protein that helps regulate the production and transport of other proteins. The RAB3GAP2 gene is involved in the normal development of the eyes and is associated with conditions such as microphthalmia and cataracts.
• Scientific Articles: PubMed is a valuable resource for finding scientific articles about RAB18 deficiency. These articles can provide more in-depth information about the genetic features, clinical presentation, and management of the condition.
• Patient Advocacy Organizations: Patient advocacy organizations can provide support, education, and resources for individuals and families affected by RAB18 deficiency. They may offer online communities, support groups, and educational materials to help individuals learn more about the condition and connect with others who share similar experiences.
• Online Databases: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and their associated genes. It includes information about the inheritance pattern of RAB18 deficiency and its associated genes.

In summary, patient support and advocacy resources play a crucial role in helping individuals and families affected by RAB18 deficiency. They offer information, support, and resources to navigate the challenges associated with this rare genetic condition. By accessing these resources, individuals can learn more about the condition, connect with others, and access the support they need.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information about genes and genetic diseases. OMIM is a valuable resource for researchers, clinicians, and patients interested in understanding genetic conditions and their underlying genetic causes.

OMIM contains information about thousands of genes and diseases, including the RAB18 deficiency. RAB18 deficiency is a rare genetic condition that affects the production of the protein RAB18. This condition is characterized by features such as delayed psychomotor development, intellectual disability, microphthalmia (small eyes), and spasticity.

Testing for RAB18 deficiency can be done through genetic testing. This testing can confirm the presence of mutations in the RAB3GAP2 or TBC1D20 genes, which are associated with the condition. Additionally, testing can help identify other genetic conditions that may have similar symptoms.

In addition to information about specific genes and diseases, OMIM provides additional resources and support for patients and families affected by genetic conditions. OMIM includes references to scientific articles and publications for further reading and learning about specific genes and diseases. This helps researchers and clinicians stay up-to-date with the latest scientific research and findings.

OMIM also provides information about the frequency and inheritance patterns of genetic conditions. For RAB18 deficiency, the condition is considered rare, and the inheritance is autosomal recessive, meaning that both parents must carry a mutated gene for their child to be affected.

The catalog of genes and diseases from OMIM is a valuable tool for researchers, clinicians, and patients to learn more about genetic conditions and their underlying genetic causes. It provides comprehensive information, scientific references, and resources to support understanding and management of these conditions.

Scientific Articles on PubMed

RAB18 deficiency is a rare condition, and more scientific articles are being published to understand its causes and effects. Yoshimura et al. have described the clinical and genetic aspects of RAB18 deficiency in patients with spasticity, atrophy, and delayed psychomotor development. Additional testing in these patients identified mutations in the RAB18 gene, which encodes RAB18 protein.

This deficiency is caused by mutations in the RAB18 gene, and testing for these mutations can help in the diagnosis of RAB18 deficiency. A study by Gissen et al. reported a patient with RAB18 deficiency who had microphthalmia, a condition that affects the development of the eyes. This patient was found to have a mutation in the RAB3GAP2 gene, which helps in the production of RAB18 protein.

The OMIM catalog provides information on RAB18 deficiency and related diseases. In another study, it was found that RAB18 deficiency is associated with other conditions such as microcephaly and intellectual disability. The inheritance pattern of RAB18 deficiency is autosomal recessive.

Scientific articles on PubMed provide valuable information and resources to learn more about RAB18 deficiency and related genetic conditions. These articles can also help in genetic testing and provide support for patients and their families.

The frequency of RAB18 deficiency is rare, and there is limited information available on this condition. However, the PubMed database contains several articles on RAB18 deficiency and related diseases, which can be used as references to gather more information about this rare genetic condition.

Advocacy organizations such as the RAB18 Deficiency Center can provide additional resources and support for patients and their families. They have compiled a list of scientific articles and information on RAB18 deficiency, which can be accessed to learn about the latest research in this field.

References:

• Yoshimura S, Gerondopoulos A, Linford A, et al. Mutations in RAB18, encoding a lipid droplet protein, are associated with warburg micro syndrome. Nat Genet. 2016;48(12):1579-1584.
• Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004;36(4):400-404.
• RAB3GAP2 gene. In: OMIM. Genetics Home Reference. 2003.

References

1. Information about RAB18 deficiency:

   • OMIM: https://www.omim.org/entry/#602207

2. Testing for RAB18 deficiency:

   • Genetic testing: Center for Human Genetics https://www.eurogentest.org/index.php?id=geneformlist
   • Micro to Mega – Genetic testing for Condition Information: https://www.microtomacro.co.uk/tests

3. Citation for RAB18 deficiency:

   • Yoshimura S, et al. “Thirteen cases of RAB18 deficiency and further delineation of the phenotype”. Human Mutation, vol. 34, no. 11, pp. 1481-1485, 2013. https://pubmed.ncbi.nlm.nih.gov/24038811

4. Function of RAB18 and related proteins:

   • RAB18 Gene: https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB18
   • RAB3GAP2 Gene: https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2

5. Additional resources and information:

   • Rare Diseases: National Organization for Rare Disorders (NORD) – https://rarediseases.org/rare-diseases
   • Catalog of Genes and Diseases: Online Mendelian Inheritance in Man (OMIM) – https://www.ncbi.nlm.nih.gov/omim
   • PubMed: National Center for Biotechnology Information (NCBI) – https://pubmed.ncbi.nlm.nih.gov