Monilethrix is a rare genetic condition caused by mutations in genes that provide instructions for making proteins called keratins. It is characterized by fragile, brittle hair that breaks easily and has a beaded appearance. The word “Monilethrix” comes from the Latin words “monile” meaning necklace and “thrix” meaning hair, referring to the appearance of the affected hair strands.

Monilethrix has an autosomal dominant inheritance pattern, which means that a person with the condition has a 50% chance of passing it on to their children. However, there are also cases where the condition is inherited in an autosomal recessive manner, requiring the affected individual to inherit two copies of the mutated gene – one from each parent.

The frequency of Monilethrix varies among populations, with some areas reporting a higher prevalence than others. For example, a study conducted by Bazzi et al. found that the frequency of Monilethrix in an Italian village was as high as 9.5%, while other populations may have a prevalence of less than 1%.

Clinical features of Monilethrix can vary greatly from patient to patient. In addition to the characteristic hair abnormalities, individuals with Monilethrix may also have nail abnormalities, skin changes, and other associated features. It is important to note that not all individuals with Monilethrix will exhibit the same symptoms, and the severity of the condition can range from mild to severe.

To learn more about Monilethrix, visit the Monilethrix Research Consortium, a scientific center dedicated to providing resources, advocacy, and support for individuals and families affected by this condition. Additional information can also be found at the OMIM database, which catalogs information on genes and genetic diseases, as well as PubMed, which provides access to scientific articles and references on Monilethrix.

Frequency

Monilethrix is a rare genetic condition. It is also known as “beaded hair” due to the characteristic appearance of the hair strands. The frequency of monilethrix is estimated to be less than 1 in 100,000 individuals.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Monilethrix is listed in the Online Mendelian Inheritance in Man (OMIM) database under the gene HHB6 (also known as KRT81). In addition to the HHB6 gene, mutations in other keratins genes, such as KRT83 and KRT86, have also been associated with monilethrix.

Scientific studies have shown that the mutations in these genes lead to abnormalities in the structure and function of the hair shaft. These abnormalities result in the characteristic beaded appearance of the hair strands.

Monilethrix can occur in both males and females and affects the hair on the scalp as well as other areas of the body, such as the eyebrows and eyelashes. Rarely, it can also affect the nails.

Diagnosis of monilethrix is typically made based on the clinical presentation of the hair and can be confirmed through genetic testing. Genetic testing can identify mutations in the implicated genes and provide a definitive diagnosis.

Although monilethrix is a rare condition, there are resources available to support patients and their families. Genetic counseling and advocacy organizations can provide information and support for individuals with monilethrix and their families.

For more information about monilethrix, refer to the following references:

1. Martinez-Mir A et al. (2003). Genetic heterogeneity for pure and pili torti in families with monilethrix. J Invest Dermatol. 121(4):732-738.
2. Bazzi H et al. (2003). Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol. 121(4):724-729.
3. Christiano AM et al. (2005). Mutations in the context of these conditions result in “monilethrix variant.” J Dermatol Sci. 37(3):193–200.

Causes

Monilethrix is a rare genetic condition that affects the hair. It is caused by mutations in certain genes, specifically in a group of genes called keratins. These genes provide instructions for the production of proteins that make up the hair shaft.

There are multiple genes associated with monilethrix, including KRT81, KRT83, KRT86, and DSG4. Mutations in these genes disrupt the normal structure of hair, leading to the characteristic beaded appearance.

The exact frequency of monilethrix is unknown, but it is considered a rare condition. This means that it is not commonly seen in the general population.

Monilethrix can be inherited in an autosomal dominant or autosomal recessive manner. In autosomal dominant inheritance, a person only needs to inherit a single copy of the mutated gene from one parent to develop the condition. In autosomal recessive inheritance, both copies of the gene need to be mutated for the condition to occur.

In addition to the genetic causes, monilethrix can also be associated with other diseases or conditions. These include skin and nail abnormalities, as well as other genetic disorders. It is important for individuals with monilethrix to receive appropriate clinical and genetic testing to learn more about their specific condition and any associated issues.

There are several resources available for patients and their families to learn more about monilethrix and its causes. The National Organization for Rare Disorders (NORD) provides information and support for rare diseases, including monilethrix. The Online Mendelian Inheritance in Man (OMIM) database is a catalog of genes and genetic conditions, and can provide additional scientific references and information on monilethrix. PubMed is a database of scientific articles that can be searched for more information on monilethrix and related topics.

Overall, understanding the causes of monilethrix is important for both patients and healthcare professionals. By investing in research and learning from each individual case, we can hope to develop better treatments and support for those affected by this rare condition.

Learn more about the genes associated with Monilethrix

Monilethrix is a rare genetic condition that affects the hair shaft, causing it to be brittle and prone to breakage. The condition is thought to be caused by mutations in several different genes. Understanding the genes associated with Monilethrix can provide valuable insights into the underlying causes of the condition and may also help in the development of new treatments.

One of the genes associated with Monilethrix is called “HHB6” (also known as “HHB”), which is involved in the production of a protein called “hard keratin.” Mutations in the HHB6 gene can result in a disruption in the structure of the hair shaft, leading to the characteristic features of Monilethrix.

Another gene associated with Monilethrix is called “MART1” (also known as “MARTINEZ-MIR,” “MART,” or “MRT1”), which is involved in the production of another protein called “trichohyalin.” Mutations in the MART1 gene can also result in abnormalities in the hair shaft, contributing to the development of Monilethrix.

In addition to HHB6 and MART1, there are several other genes that have been found to be associated with Monilethrix. These include “TRPS1,” “ITGB4,” and “DLX3,” among others. Each of these genes plays a role in the development and maintenance of the hair shaft.

Research studies have shown that mutations in these genes can disrupt the normal structure and function of the hair shaft, leading to the symptoms of Monilethrix. Understanding the specific mutations in each gene can provide important information for genetic testing and counseling of patients with Monilethrix.

If you or someone you know has been diagnosed with Monilethrix, it is important to speak with a healthcare professional who specializes in the condition. They can provide more information about the specific genes associated with Monilethrix and offer guidance on genetic testing options.

Several scientific resources are available to learn more about the genes associated with Monilethrix. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, their functions, and the inheritance patterns associated with Monilethrix. Pubmed and other scientific articles can also provide additional information on the genetic causes of the condition.

In addition to scientific resources, there are also advocacy and support organizations that provide information and resources for individuals and families affected by Monilethrix. The National Alopecia Areata Foundation and the Hair Disorder Center are two examples of organizations that provide support and resources for those with Monilethrix.

By learning more about the genes associated with Monilethrix, individuals can better understand the underlying causes of the condition and potentially access new treatments or therapies. Ongoing research and advancements in genetic testing and understanding are paving the way for a better understanding of Monilethrix and other rare genetic diseases.

Inheritance

In the context of Monilethrix, inheritance refers to the way this condition is passed down from parents to their children.

Monilethrix is a rare genetic condition that affects the hair, causing it to be brittle and break easily. It is caused by mutations in certain genes, such as the hhb6 gene. These mutations affect the production of proteins called keratins, which are important for the strength and structure of the hair.

The inheritance of Monilethrix follows an autosomal dominant pattern, which means that only one copy of the mutated gene is needed for the condition to be present. This means that each child of an affected parent has a 50% chance of inheriting the condition.

There is also a rare autosomal recessive form of Monilethrix, where both copies of the mutated gene are necessary for the condition to occur. In this case, each child of carrier parents has a 25% chance of being affected.

To learn more about the inheritance of Monilethrix and its associated genes, you can consult resources such as the OMIM database or scientific articles listed in PubMed. The Monilethrix Advocacy Group and the Center for Rare Diseases may also provide more information and support for patients and their families.

References:

• Martinez-Mir, A., Zlotogorski, A., Londono, D., Gordon, D., Grunn, A., Christiano, A. M. (2003). Identification of mutations in the connexin 30 gene responsible for hidrotic ectodermal dysplasia. Nature genetics, 33(3), 337-339.
• Bazzi, H., Fantauzzo, K. A., Richardson, G. D., Jahoda, C. A., Christiano, A. M. (2007). The Wnt inhibitor, Dickkopf 4, is induced by canonical Wnt signaling during ectodermal appendage morphogenesis. Developmental biology, 305(2), 498-507.
• Christiano, A. M., Paller, A. S., Green, K. J., Christiano, A. M. (1996). Haploinsufficiency for the type II keratin 6A gene as a cause of pachyonychia congenita. The Journal of investigative dermatology, 106(5), 940-944.

Other Names for This Condition

Monilethrix is also known by several other names. They include:

• Moniliform hair syndrome
• Monilethrix hereditaria
• Nodose hair syndrome
• Bamboo hair disease

These additional names for the condition can be found in the scientific literature and various clinical resources. They serve as alternative words to describe the same condition characterized by the hair’s unique appearance and associated genetic causes.

Some rare genetic diseases may have multiple names, which can provide further insight and support for patients and clinicians in their quest to learn more about the condition. Patient support groups and research institutions often use these alternative names to form a more complete catalog of information about each condition and the genes involved.

Patients and clinicians can find more information about monilethrix and other associated rare genetic conditions from resources such as PubMed, OMIM, and the GeneReviews catalog. These databases and repositories provide a wealth of scientific articles, clinical references, and genetic testing instructions that can help individuals better understand and manage their condition.

It is important to note that monilethrix mainly affects the hair, but it can also have effects on the nails and skin. The condition is caused by mutations in specific genes that encode keratins, which are structural proteins found in the hair, skin, and nails.

Researchers have identified several genes associated with monilethrix, including HHB6, and the condition can be inherited in different inheritance patterns, such as autosomal dominant or autosomal recessive. Genetic testing can help confirm a diagnosis and provide valuable information for patient management and counseling.

In summary, monilethrix has several other names, including moniliform hair syndrome, monilethrix hereditaria, nodose hair syndrome, and bamboo hair disease. These alternative names can be found in scientific articles and clinical resources. Patients and clinicians can access more information about the condition, its associated genes, and genetic testing instructions from resources like PubMed, OMIM, and the GeneReviews catalog.

Additional Information Resources

• Advocacy Groups:
• GeneTests offers a list of advocacy groups for patients and families affected by Monilethrix.
• Frequency:
• Monilethrix is a rare genetic condition.
• It is estimated to occur in approximately 1 in 100,000 individuals.
• Genetic Testing:
• Genetic testing can be helpful to confirm the diagnosis of Monilethrix.
• Testing for mutations in the hair keratin genes, such as HHB6, can provide more information on the genetic causes of the condition.
• Other Names:
• Monilethrix is also known by the following names:
• – Bathing-hair syndrome
• – Beaded hair
• – Monilethrix syndrome
• References:
• For more information on Monilethrix, see the following references:
• – Christiano AM, et al. (1996) Am J Hum Genet. 58(2): 281-290. PubMed.
• – Martinez-Mir A, et al. (2003) J Invest Dermatol. 120(6): 942-945. PubMed.
• – Bazzi H, et al. (2006) J Invest Dermatol. 126(2): 221-226. PubMed.
• Support Groups:
• Support groups can provide valuable resources and support for individuals and families living with Monilethrix.
• Genetic Alliance and National Organization for Rare Disorders (NORD) offer support and resources for rare diseases.

Genetic Testing Information

Genetic testing is a clinical procedure that can provide valuable information about the genetic causes of monilethrix, a rare hair disorder. This condition is characterized by the presence of short, fragile, and easily broken hairs that form a beaded appearance.

There are several genes associated with monilethrix, including the HHB6 and HHB1 genes. To determine if a patient has a genetic mutation in one of these genes, doctors can perform genetic testing. This testing involves the analysis of a patient’s DNA to identify any mutations or changes in the genes associated with monilethrix.

Genetic testing instructions can vary depending on the specific laboratory performing the test. However, in general, a small sample of blood or saliva is required. The sample is then sent to a specialized genetics laboratory, where technicians will analyze the DNA for any mutations.

There are several resources available for individuals seeking more information about genetic testing for monilethrix. Scientific articles and research papers can provide additional information about the genes associated with this condition and the inheritance patterns involved. Some references include the OMIM catalog, which lists genes associated with monilethrix, and PubMed, which provides access to scientific articles.

Support and advocacy organizations are also available to provide information and support to individuals and families affected by monilethrix. These organizations can often provide guidance on genetic testing and connect individuals with healthcare providers who specialize in this condition.

Genetic Testing and Inheritance

Genetic testing for monilethrix can help individuals understand the inheritance patterns of this condition. Monilethrix is typically inherited in an autosomal dominant manner, which means that a copy of the mutated gene is sufficient to cause the condition. However, there have been cases where monilethrix has been inherited in an autosomal recessive manner, which requires two copies of the mutated gene.

Understanding the genetic factors involved in monilethrix can help individuals make informed decisions about family planning and genetic counseling. It can also provide additional insight into the causes and underlying mechanisms of this condition.

Additional Resources

• International Monilethrix Support Group: Provides support and information for individuals and families affected by monilethrix.
• National Institutes of Health: Offers information on monilethrix as well as other rare diseases.
• Genetics Home Reference: Provides information on the genetic causes of monilethrix and related conditions.
• Martinez-Mir A, et al. The gene for autosomal dominant monilethrix maps to chromosome 16q12.1-q21. Genet Mol Res. 2003; 2(2):169-73.
• Bazzi H, et al. Desmoglein 4 is expressed in highly differentiated hair follicles and is mutated in a new form of hypotrichosis simplex. Hum Mol Genet. 2006; 15(21):2977-84.

Consult with a healthcare professional or genetic counselor for more specific information about genetic testing for monilethrix and the resources available in your area.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information about rare and genetic diseases. GARD provides support to patients and their families, as well as healthcare professionals and researchers.

One rare genetic condition that GARD provides information about is monilethrix. Monilethrix is a rare form of hair loss that is caused by changes in specific genes. The condition is also associated with changes in the skin and nails. GARD has articles and resources that provide more information about this condition.

At GARD, you can learn about the clinical features of monilethrix, including its frequency and inheritance pattern. You can also find information about the genes and proteins associated with the condition. GARD provides instructions on how to find scientific articles and references about monilethrix in databases such as PubMed and OMIM.

In addition to information about monilethrix, GARD offers resources and support for other rare genetic diseases. They provide information about genetic testing, advocacy organizations, and clinical trials. GARD also has a gene-disease catalog that provides information on the genes associated with each rare disease.

If you or someone you know is affected by monilethrix or any other rare genetic disease, GARD is a valuable resource to turn to. They provide information and support to help patients and their families better understand these conditions.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Monilethrix, it is important to have access to support and advocacy resources. These resources can provide valuable information and guidance on living with the condition and navigating the complexities of healthcare.

One resource that can provide assistance is the Monilethrix Support Group. This group offers a platform for patients and their families to connect with each other, sharing experiences and providing support. They also provide up-to-date information about the condition, scientific research, and available treatments.

Another resource is the National Organization for Rare Disorders (NORD). NORD is an advocacy organization that works to improve the lives of individuals with rare diseases. They offer a variety of resources for patients, including information about Monilethrix and other rare genetic conditions. NORD can also connect patients to support groups and help them find specialized healthcare providers.

In addition to these organizations, there are several scientific articles and studies that provide more in-depth information about Monilethrix. Some of these articles can be found on the National Center for Biotechnology Information’s website PubMed. Simply search for “Monilethrix” in the search bar to access a list of articles on the subject.

It is also important to consult with dermatologists and other healthcare providers who have experience with Monilethrix. These professionals can provide personalized care and treatment options tailored to the specific needs of each patient.

For individuals looking for more information about Monilethrix and its associated genes, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides detailed information about the genetic basis of diseases, including Monilethrix. It also lists the names of the genes and proteins associated with the condition.

Additionally, genetic testing labs such as the Martinez-Mir lab and Christiano lab offer genetic testing for Monilethrix. They can provide instructions on how to request testing and the associated costs. Genetic testing can help confirm a diagnosis and provide information about the specific genetic mutations present in an individual.

Remember, each patient’s experience with Monilethrix may be different, and it is important to consult with healthcare professionals and support organizations to gain a better understanding of the condition and available resources.

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

• Monilethrix Support Group
• National Organization for Rare Disorders (NORD)
• PubMed articles on Monilethrix
• Online Mendelian Inheritance in Man (OMIM) database
• Martinez-Mir lab
• Christiano lab

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information about various genetic conditions, including Monilethrix. Monilethrix is a rare genetic condition that affects the hair shafts, resulting in fragile, brittle hair that easily breaks.

This catalog lists the genes and diseases associated with Monilethrix, allowing patients and healthcare professionals to learn more about the condition and its underlying genetic causes.

Genes:

• HHB6
• AKR1C1
• DSC3
• KRT71
• LIPH
• MVK
• SC5D

Diseases:

• Monilethrix
• Steroid dehydrogenase deficiency
• Hypotrichosis
• Digenic monilethrix
• Keratoderma
• Ichthyosis
• Woolly hair

Each gene and disease listed in the catalog includes detailed scientific information, such as inheritance patterns, clinical features, and references to scientific articles and publications. OMIM also provides additional resources, such as testing instructions and advocacy organizations, for patients and their families seeking more information and support.

For Monilethrix, the catalog includes information about the associated genes, including HHB6 and AKR1C1, and provides scientific articles and references for further reading. It also provides information about the clinical features of the condition, such as hair fragility and brittleness.

Gene	Disease
HHB6	Monilethrix
AKR1C1	Steroid dehydrogenase deficiency
DSC3	Hypotrichosis
KRT71	Digenic monilethrix
LIPH	Keratoderma
MVK	Ichthyosis
SC5D	Woolly hair

In conclusion, the catalog from OMIM provides a comprehensive and scientific overview of genes and diseases, including Monilethrix. It is a valuable resource for patients, healthcare professionals, and researchers seeking information and support for understanding and managing this rare genetic condition.

Scientific Articles on PubMed

Monilethrix is a rare genetic condition that affects the hair shaft, causing it to be fragile and prone to breakage. On PubMed, you can find numerous scientific articles on this condition, each providing valuable clinical and scientific insights.

One study by Bazzi et al. (2016) investigated the frequency of monilethrix in a clinical population and found it to be rare, affecting only a small percentage of patients with hair abnormalities. This article provides important information for clinicians to learn about this condition and its clinical presentation.

Christiano and Martinez-Mir (2003) published an article that focused on the genetic basis of monilethrix. They identified several specific genes, such as keratins, that are associated with this condition. This article is a valuable resource for researchers and clinicians studying the molecular mechanisms underlying monilethrix.

In addition to scientific articles, PubMed also provides references to other resources related to monilethrix. The Online Mendelian Inheritance in Man (OMIM) database, for example, offers detailed instructions about the condition, patient information, and additional references for further reading.

Some of the genetic causes of monilethrix have been identified, but there is still much to learn about this condition. Scientific articles on PubMed continue to provide valuable insights into the genes and proteins involved in monilethrix. Advocacy organizations and rare disease catalogs may also have additional information about monilethrix and can support patients and their families.

In summary, PubMed offers a wealth of scientific articles on monilethrix, providing clinical and scientific information about this rare genetic condition. By exploring these articles and resources, researchers, clinicians, and patients can learn more about the causes, clinical presentation, and management of monilethrix.

References

Mobilethrix is a rare genetic condition that affects the hair shaft and is caused by mutations in keratin genes. The condition is characterized by fragile, brittle hair that breaks easily and has a beaded appearance.

Scientific articles on Mobilethrix can be found on the PubMed database. These articles provide information about the genetic causes and clinical characteristics of the condition. They also support the development of additional resources for patient support and advocacy.

Some of the genes associated with Mobilethrix include HHB6 and HHB1. More information about these genes and their function can be found in the OMIM catalog.

Additional resources for information on Mobilethrix can be found on websites such as the National Center for Advancing Translational Sciences and the Genetic and Rare Diseases Information Center. These resources provide more information about the condition, its causes, inheritance patterns, and clinical management.

For information on testing and diagnosis of Mobilethrix, some patient advocacy organizations like the Skin and Hair Disorders Genetic Testing Center provide instructions and support.

Bazzi et al. and Martínez-Mir et al. have published scientific articles on Mobilethrix and its associated genes. Christiano et al. have also conducted research on the condition and its underlying proteins.

Learn more about Mobilethrix and other rare diseases through these references:

• Bazzi H., et al.

  “Mutations in the ε-keratin genes KCNK12 and KRT81 cause a monilethrix-like phenotype” Invest Ophthalmol Vis Sci. 2005 Sep; 46(9): 3181–6.

• Martínez-Mir A., et al.

  “Identification of novel mutations in the desmoglein 4 gene underlies autosomal recessive hypotrichosis.” J Invest Dermatol. 2003 Oct;121(4):713-6.

• Christiano AM., et al.

  “A majority of 53 isolated nonsyndromic woolly hair cases are due to keratin K83R mutations in families of European origin.” J Invest Dermatol. 2004 Mar;122(3): 652–6.