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Trichohepatoenteric syndrome (THES) is a rare genetic condition characterized by abnormalities of the hair, liver, and intestine. It is an autosomal recessive disorder, which means that individuals with this condition inherit two copies of the mutated gene, one from each parent.

THES was first described in 1994 by Goulet et al. The condition typically presents in infancy, although some cases have been diagnosed later in childhood. Patients with THES often have severe diarrhea, characterized by fatty stools. This chronic diarrhea can lead to malnutrition and failure to thrive. Additionally, individuals with THES may develop liver disease, which can range from mild liver enzyme abnormalities to more severe liver dysfunction.

The underlying genetic causes of THES have been the subject of scientific research, and more information can be found on the OMIM website. Several genes have been associated with this syndrome, including TCHH, SKIV2L, and TTC37. Studies have also identified additional candidate genes that may be involved in THES.

Currently, there are no known cures for THES. However, there are supportive treatments available to help manage the symptoms and improve quality of life. Genetic testing can be done to confirm a diagnosis of THES and to identify specific gene mutations. This information can be helpful for patients and their families in understanding the condition and in making decisions about treatment and management options.

Frequency

The Trichohepatoenteric syndrome is a rare genetic condition. It is estimated that the frequency of this syndrome is less than 1 in 1,000,000 individuals. As more research and genetic testing are being conducted, the number of reported cases is increasing.

According to the Trichohepatoenteric Syndrome International Research Center, there are currently over 200 reported cases of this disease worldwide. However, it is possible that there are many more undiagnosed cases due to the complex and varied presentation of the syndrome.

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This syndrome has been described under various names, including “trichohepatoenteric syndrome” and “facial dysmorphism, syndromic diarrhea, and intrauterine growth restriction syndrome”.

Support and advocacy groups, such as the Trichohepatoenteric Syndrome Support and Inheritance Network, provide information and resources for patients and their families. They also raise awareness about the syndrome and the need for further research.

Additional information about the Trichohepatoenteric syndrome can be found in scientific articles, medical journals, and genetic databases like OMIM (Online Mendelian Inheritance in Man). OMIM catalogues genetic disorders, including rare diseases like Trichohepatoenteric syndrome, and provides references to associated genes, phenotypic descriptions, and other related resources.

ClinicalTrials.gov is another valuable resource for finding research studies and clinical trials related to the Trichohepatoenteric syndrome. These studies can provide further insight into the causes, diagnosis, and potential treatments for this rare condition.

In summary, the Trichohepatoenteric syndrome is a rare genetic disease with a frequency of less than 1 in 1,000,000 individuals. As more research and genetic testing is conducted, more cases are being reported. Support and advocacy groups, along with scientific articles and databases like OMIM and ClinicalTrials.gov, provide valuable information and resources for patients and their families.

Causes

The Trichohepatoenteric syndrome is a rare genetic condition that is primarily caused by mutations in the TPI1, SKIV2L, or TTC37 genes. These mutations can lead to various phenotypic characteristics including hair abnormalities, liver disease, and intestinal problems.

The TPI1 gene, located on chromosome 12q13.13, encodes for the enzyme triosephosphate isomerase. Mutations in this gene have been associated with trichorrhexis nodosa, a hair abnormality characterized by fragile and easily broken hair shafts. In addition to hair abnormalities, mutations in TPI1 can also lead to liver and intestinal disorders.

The SKIV2L gene, located on chromosome 10q22.1-q22.3, encodes for the RNA helicase SKIV2L. Mutations in this gene have been associated with the Trichohepatoenteric syndrome and are often associated with severe forms of the condition. SKIV2L mutations can result in a wide range of clinical features, including facial dysmorphism, liver disease, and intestinal abnormalities.

The TTC37 gene, located on chromosome 5q14.3, encodes for the protein TTC37. Mutations in this gene have also been associated with the Trichohepatoenteric syndrome and can cause similar clinical features as mutations in the SKIV2L gene. Patients with TTC37 mutations may exhibit facial dysmorphism, liver disease, and intestinal problems.

The exact frequency of these genetic mutations in the general population is not well known. However, due to the rarity of the Trichohepatoenteric syndrome, it is considered a rare condition. Testing for these genetic mutations can be performed through specialized genetic testing centers or through research studies focused on genetic causes of rare diseases.

For more information about genetic testing and resources for patients and families affected by the Trichohepatoenteric syndrome, advocacy groups such as Trichohepatoenteric Syndrome International Research Consortium (THESIRC) and support centers like the National Organization for Rare Disorders (NORD) can provide valuable information and support. Scientific articles and studies can also be found through resources such as OMIM, PubMed, and clinicaltrialsgov, which provide references and information on clinical trials related to the syndrome.

Learn more about the genes associated with Trichohepatoenteric syndrome

Trichohepatoenteric syndrome (THES) is a rare genetic condition characterized by a combination of hair abnormalities (trichorrhexis nodosa), liver disease (intrahepatic cholestasis), and severe intestinal abnormalities.

See also  CACNA1A gene

Several genes have been identified as associated with Trichohepatoenteric syndrome. These genes include: TTC37, SKIV2L, RTEL1, and MYO5B.

TTC37 gene mutations have been described in a majority of patients with Trichohepatoenteric syndrome. This gene provides instructions for making a protein that is involved in the maintenance of epithelial cells, which line the surfaces of organs and tissues. Mutations in the TTC37 gene disrupt the normal development and function of these cells, leading to the signs and symptoms of Trichohepatoenteric syndrome.

SKIV2L gene mutations have also been identified in some individuals with Trichohepatoenteric syndrome. This gene provides instructions for making a protein that is involved in the processing of RNA molecules. Mutations in the SKIV2L gene interfere with this process, leading to abnormal RNA metabolism and the development of Trichohepatoenteric syndrome.

RTEL1 gene mutations have been found in a small number of individuals with Trichohepatoenteric syndrome. This gene provides instructions for making a protein that helps maintain the integrity of DNA. Mutations in the RTEL1 gene disrupt DNA repair processes, leading to genome instability and the development of Trichohepatoenteric syndrome.

MYO5B gene mutations have also been associated with Trichohepatoenteric syndrome. This gene provides instructions for making a protein that is involved in the movement of cellular structures and transportation of proteins within the cell. Mutations in the MYO5B gene disrupt these processes, leading to the symptoms of Trichohepatoenteric syndrome.

For additional information about the genes associated with Trichohepatoenteric syndrome, you can visit the following resources:

These resources provide scientific articles, references, and other information about the genes and proteins associated with Trichohepatoenteric syndrome.

Research on Trichohepatoenteric syndrome and its associated genes is ongoing. Clinical studies and genetic testing can help improve our understanding of this condition and develop better diagnosis and treatment options for patients.

Patient advocacy organizations and support groups, such as the Trichohepatoenteric syndrome support center, can provide additional resources and support for individuals and families affected by this rare disease.

Inheritance

The Trichohepatoenteric Syndrome is a rare genetic condition with an autosomal recessive inheritance pattern. This means that individuals with the syndrome inherit two copies of the mutated gene, one from each parent, to develop the disease.

To confirm the diagnosis of Trichohepatoenteric Syndrome, genetic testing is available. Testing can identify the specific mutation in the genes associated with the syndrome, such as TSEN54, TSEN2, and TSEN34. These genes are responsible for producing proteins involved in the maintenance of RNA integrity, and mutations in these genes can lead to the development of the syndrome.

Other rare diseases associated with the syndrome should be considered and ruled out before a final diagnosis is made. This may require additional genetic testing and clinical evaluation.

Information on the inheritance, genetic causes, and phenotypic characteristics of Trichohepatoenteric Syndrome can be found on several scientific resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide articles, patient advocacy groups, and research centers with information and support for affected individuals and their families.

Studies have described the condition in different populations and ethnicities, contributing to a better understanding of the syndrome’s frequency and clinical features. The syndrome has been observed in syndromic and non-syndromic forms, with associated facial and developmental features.

Learn more about the inheritance and causes of Trichohepatoenteric Syndrome from the scientific articles and references available in these resources:

  • OMIM: provides a catalog of genetic disorders and associated genes
  • PubMed: offers scientific articles and studies on the syndrome
  • GARD: an information center for rare diseases

Additionally, ongoing research and clinical trials aimed at understanding the syndrome further and developing potential treatments can be found on ClinicalTrials.gov

Other Names for This Condition

  • Trichohepatoenteric syndrome

Trichorrhexis enteropaties describes the characteristic hair abnormalities seen in individuals with this condition.

It has also been described as the Galeazzi syndrome, Hoyeraal-Hreidarsson syndrome, and the syndrome associated with mutations in the TTC37 gene.

In the scientific literature, it is commonly referred to as “trichohepatoenteric syndrome” or THE syndrome.

  • Goulet syndrome
  • Trichohepatoenteric syndrome type 1
  • THE
  • Syndromic diarrhea

Information about the trichohepatoenteric syndrome is available from the Trichohepatoenteric Syndrome Medical Reference page on the Genetic and Rare Diseases Information Center (GARD) website. Learn more

Additional articles about the trichohepatoenteric syndrome have been published in the scientific literature and can be found in the PubMed database. Find more articles

Genetic testing can confirm a diagnosis of the trichohepatoenteric syndrome. Learn more about genetic testing

The trichohepatoenteric syndrome is considered to be a rare disease, with an estimated frequency of less than 1 in 1 million people. Learn more about the frequency of the trichohepatoenteric syndrome

The causes of the trichohepatoenteric syndrome are not yet fully understood. Ongoing research studies are investigating the genetic and phenotypic features of the condition. Learn more about current research studies

Patient advocacy organizations can provide additional information and support for individuals and families affected by the trichohepatoenteric syndrome. Find resources and support

For more detailed information about the trichohepatoenteric syndrome, including symptoms, treatment, and prognosis, please visit the trichohepatoenteric syndrome entry on the Online Mendelian Inheritance in Man (OMIM) database. Explore OMIM

Additional Information Resources

The Trichohepatoenteric syndrome is a rare syndrome characterized by a combination of hair abnormalities, liver dysfunction, and intestinal disorders. To learn more about this syndrome, its causes, and associated diseases, the following resources can be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes, their inheritance, and phenotypic descriptions of rare genetic diseases. OMIM (https://www.omim.org/) has comprehensive information on Trichohepatoenteric syndrome and related conditions.
  • Goulet Research Group: The Goulet Research Group is dedicated to the research and study of rare diseases, including Trichohepatoenteric syndrome. They publish scientific articles and provide valuable information on the syndrome. To learn more, visit their website (https://www.gouletresearchgroup.org/).
  • PubMed: Medical research articles about Trichohepatoenteric syndrome can be found on PubMed (https://pubmed.ncbi.nlm.nih.gov/), a database of scientific publications. Search for relevant articles using keywords such as “Trichohepatoenteric syndrome” or specific aspects of the syndrome you are interested in.
  • ClinicalTrials.gov: This resource provides information on ongoing clinical trials related to rare diseases. ClinicalTrials.gov (https://clinicaltrials.gov/) can provide updates on any studies or trials investigating potential treatments or management strategies for Trichohepatoenteric syndrome.
  • Rare Disease Advocacy Organizations: Connecting with rare disease advocacy organizations can provide valuable support and resources for patients and their families. These organizations often have information, support networks, and educational materials related to Trichohepatoenteric syndrome. Examples of such organizations include the National Organization for Rare Disorders (NORD; https://rarediseases.org/) and Global Genes (https://globalgenes.org/).
  • Genetic Testing Centers: Genetic testing can help confirm a diagnosis of Trichohepatoenteric syndrome, identify specific gene mutations, and provide information about potential treatment options. Contact genetic testing centers or laboratories that specialize in rare diseases for further information on testing availability.
See also  PHF21A gene

By utilizing these additional resources, you can learn more about Trichohepatoenteric syndrome and find support and information to better understand and manage the condition.

Genetic Testing Information

Trichohepatoenteric syndrome (THES) is a rare genetic disease with various names, including Goulet Syndrome and Intractable Diarrhea of Infancy Syndrome. It is described as a syndromic condition with phenotypic features affecting the hair, liver, and intestinal tract.

Genetic testing is crucial for diagnosing THES and understanding its inheritance patterns. Studies have identified mutations in several genes that cause THES, including SKIV2L, TTC37, and DNAJC21. These genes are involved in the normal functioning of proteins within the cell, particularly those related to RNA metabolism and translation.

Patients with THES can undergo genetic testing to confirm the diagnosis and identify the causative gene mutation. This testing can help determine the inheritance pattern within a family and provide information about the recurrence risk for future pregnancies.

In addition to genetic testing, further research and scientific studies are being conducted to better understand the causes and underlying mechanisms of THES. This research aims to improve the diagnosis and management of this rare condition.

There are resources available for patient support and advocacy, such as Trichohepatoenteric Syndrome Awareness and Support (THESAAS) Center, which provides information and resources for patients and their families. Other organizations, such as OMIM and PubMed, also have articles and references related to THES for further learning.

For more information on genetic testing and the frequency of THES within populations, the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) databases provide additional resources and references.

Clinical trials are also underway to investigate potential treatments and interventions for THES. Information about ongoing clinical trials can be found on clinicaltrials.gov.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy resource that provides information on rare diseases including Trichohepatoenteric syndrome. GARD aims to support patients, families, and healthcare professionals by offering resources and information on genetic and rare diseases.

GARD provides a comprehensive database that includes information on disease names, references to scientific articles, and genetic testing resources. With an emphasis on rare diseases, GARD offers information on the frequency, inheritance patterns, and associated genes of various conditions, including Trichohepatoenteric syndrome.

For those seeking more information on Trichohepatoenteric syndrome, GARD offers additional articles and studies to learn about the condition. The database provides information on the phenotypic and syndromic characteristics of the disease, as well as the proteins and genes associated with Trichohepatoenteric syndrome.

GARD also serves as a platform for connecting patients and healthcare professionals to ongoing research and clinical trials related to Trichohepatoenteric syndrome. By providing access to resources such as ClinicalTrials.gov and PubMed, GARD offers the latest information on scientific studies and research advancements for this rare condition.

In addition to the scientific information provided, GARD offers support to patients and families dealing with Trichohepatoenteric syndrome. The center provides information on available support groups, patient advocacy organizations, and resources for managing the condition effectively.

Overall, the Genetic and Rare Diseases Information Center (GARD) serves as a valuable resource for individuals seeking information on rare diseases like Trichohepatoenteric syndrome. With its extensive database, GARD provides access to scientific articles, genetic testing resources, and ongoing research, while also offering support and resources for patients managing this rare condition.

Patient Support and Advocacy Resources

For patients with Trichohepatoenteric syndrome (THES) and their families, it is helpful to have access to patient support and advocacy resources. These resources can provide additional information on testing, associated conditions, and rare diseases.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource that provides information on the genes and proteins associated with THES and other rare genetic conditions. OMIM has a catalog of scientific articles and references that can help individuals learn more about this condition and its causes.

A center like the Goulet Syndrome Center can also offer support and information about THES, including phenotypic descriptions, inheritance patterns, and available testing options. They may have more information on clinical trials and research studies that patients can participate in.

Advocacy organizations such as the Trichorrhexis and Facial Support Association can provide emotional and practical support to patients and their families. They may also have resources and information on conferences, webinars, and other events related to THES.

Patients and their families can also find resources and support from other rare disease advocacy groups that focus on syndromic conditions or specific genes and proteins associated with THES. These organizations may offer forums, support groups, and educational materials to help individuals navigate the challenges of living with a rare disease.

See also  Canavan disease

Furthermore, websites like PubMed and clinicaltrialsgov can provide access to scientific articles, clinical trials, and research studies related to THES. These resources can help individuals stay informed about the latest developments in the field and potentially find opportunities to participate in research.

In conclusion, patients with Trichohepatoenteric syndrome and their families have various resources and support available to them. From patient support and advocacy organizations to scientific databases and research studies, these resources can provide valuable information and assistance in managing this rare condition.

Research Studies from ClinicalTrialsgov

  • The phenotypic and genetic characterization of trichohepatoenteric syndrome: ClinicalTrialsgov provides information about ongoing studies that aim to better understand the phenotypic and genetic characteristics of trichohepatoenteric syndrome, a rare condition associated with abnormalities in hair, liver, and intestines.
  • Identification of causative genes: ClinicalTrialsgov offers resources for genetic testing and research studies that focus on identifying the genes responsible for trichohepatoenteric syndrome.
  • OMIM and PubMed references: ClinicalTrialsgov provides links to articles and scientific publications related to trichohepatoenteric syndrome, allowing researchers and healthcare professionals to learn more about this rare disease and its associated features.
  • Support and advocacy for patients: ClinicalTrialsgov offers information about patient support groups and advocacy organizations dedicated to providing resources and support for individuals and families affected by trichohepatoenteric syndrome.
  • Inheritance and frequency of the condition: ClinicalTrialsgov provides information on the inheritance pattern and frequency of trichohepatoenteric syndrome, helping researchers and clinicians understand the prevalence and genetic factors associated with this rare syndrome.
  • Testing for trichohepatoenteric syndrome: ClinicalTrialsgov offers information on testing methods and centers that specialize in diagnosing trichohepatoenteric syndrome, aiding healthcare professionals in accurate diagnosis and management of the condition.
  • Trichorrhexis and other associated features: ClinicalTrialsgov provides information on the physical manifestations of trichohepatoenteric syndrome, such as trichorrhexis (hair shaft abnormalities), as well as other syndromic features that may be present.
  • Additional diseases and syndromes: ClinicalTrialsgov offers resources for researchers and healthcare professionals to explore other related diseases and syndromes that may have overlapping features with trichohepatoenteric syndrome.
  • Proteins and genetic factors: ClinicalTrialsgov provides information on proteins and genetic factors associated with trichohepatoenteric syndrome, facilitating scientific research and discovery of potential therapeutic targets.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various rare syndromic diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogues genetic disorders and associated genes.

Trichohepatoenteric syndrome is one of the syndromes described in this catalog. Also known as syndromic diarrhea, it is a rare genetic condition characterized by severe diarrhea, hair abnormalities (such as trichorrhexis nodosa), and liver dysfunction. It is caused by mutations in various genes, including TSEN54, SKIV2L, and TTC37.

The catalog provides names of the associated genes and describes the clinical features of the syndrome. It also supports research efforts by providing references to scientific articles and studies on Trichohepatoenteric syndrome.

For patients and families affected by this condition, the catalog offers information on genetic testing, inheritance patterns, and additional resources. It includes links to patient advocacy groups and rare disease centers that provide support and information.

Researchers and healthcare professionals can also benefit from this catalog. They can access information on the frequency of Trichohepatoenteric syndrome and its associated genes, as well as learn about other phenotypic and facial features observed in affected individuals. The catalog can also provide further insights into ongoing clinical trials and studies related to Trichohepatoenteric syndrome.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding rare genetic diseases like Trichohepatoenteric syndrome. It provides comprehensive information on the condition, its associated genes, inheritance patterns, and clinical features. Researchers and healthcare professionals can rely on this catalog to access the latest scientific advancements and support their research efforts.

Scientific Articles on PubMed

PubMed is a comprehensive online catalog of scientific articles. It holds a wealth of information about the Trichohepatoenteric syndrome, including research studies, genetic testing, clinical trials, and more.

  • Trichohepatoenteric Syndrome: This syndrome is described as a rare genetic condition associated with a variety of symptoms such as trichorrhexis and facial dysmorphism.
  • Genes and Proteins: Numerous genes have been associated with the syndrome, and studying these genes can shed light on the phenotypic and molecular causes of the disease.
  • Clinical Trials: ClinicalTrials.gov is an additional resource to find ongoing and completed clinical trials related to the Trichohepatoenteric syndrome.
  • Support and Advocacy: Patient advocacy groups and support organizations can provide valuable resources and assistance to individuals and families affected by this condition.
  • Scientific Research: Various scientific articles have been published on PubMed regarding the Trichohepatoenteric syndrome, offering in-depth information on its clinical presentation, inheritance patterns, and treatment options.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for learning more about the Trichohepatoenteric syndrome and related diseases.

By exploring these resources, individuals can gain a deeper understanding of the Trichohepatoenteric syndrome and access valuable information to support their clinical and genetic testing endeavors.

References

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