Ichthyosis is a term that refers to a group of rare genetic disorders characterized by dry, thickened, and scaly skin. Hystrix-like ichthyosis is a specific subtype of ichthyosis that is associated with deafness.
Patients with hystrix-like ichthyosis exhibit abnormal skin patterns, resembling the quills of a porcupine. In addition to the skin symptoms, they also experience hearing loss due to cochlear abnormalities. This condition can have a significant impact on the patient’s quality of life and may lead to social isolation.
The exact cause of hystrix-like ichthyosis with deafness is not yet fully understood. However, through scientific research and genetic testing, certain mutations in the genes associated with this condition have been identified. These mutations interfere with the transport of certain proteins in the skin, leading to the characteristic skin and hearing symptoms.
While hystrix-like ichthyosis with deafness is a rare condition, resources and support are available for patients and their families. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the genes, mutations, and inheritance patterns associated with hystrix-like ichthyosis with deafness. Additionally, advocacy groups and patient support organizations offer resources and additional references for those seeking more information.
Frequency
The frequency of Hystrix-like ichthyosis with deafness is uncertain. The condition is considered rare, with only a few documented cases reported in scientific literature. Each patient with this condition may have different genetic mutations, which contribute to the variability in its frequency.
According to some references, the frequency of Hystrix-like ichthyosis with deafness has not been precisely identified, but it is believed to be a very uncommon condition. Though more genetic testing and research are needed to determine the exact frequency, the rarity of the condition suggests that it occurs sporadically.
Inheritance patterns associated with Hystrix-like ichthyosis with deafness are not well understood. Some cases may be sporadic, occurring without a family history of the condition. Other cases may have a pattern of inheritance, but additional information about the genes and mutations involved is necessary for a more comprehensive understanding.
Due to the uncommon nature of this condition, there is limited information available. However, organizations like the Hystrix-like Ichthyosis with Deafness Advocacy and Support Group provide resources and support for individuals and families affected by the condition. Publications such as OMIM and PubMed may contain articles and references about Hystrix-like ichthyosis with deafness, providing further information for those interested in learning more.
Research and testing into the causes and genetic mechanisms of Hystrix-like ichthyosis with deafness are ongoing. The identification of specific genes and the understanding of how they affect the transport of proteins in the cochlea and other parts of the body will contribute to a better understanding of this condition.
Overall, the frequency of Hystrix-like ichthyosis with deafness is considered rare. More genetic testing and scientific research are needed to gain a better understanding of the condition, its associated genes, and inheritance patterns.
Causes
Hystrix-like ichthyosis with deafness is a rare genetic condition that is primarily caused by mutations in the gene called SLC24A5. This gene is responsible for encoding a protein known as the sodium/potassium/calcium exchanger 5 (NCKX5), which plays a crucial role in the transport of ions within cells of the cochlea, the auditory part of the inner ear.
While SLC24A5 mutations are the most common cause of hystrix-like ichthyosis with deafness, there may be other genes involved in some cases. It is essential for patients and their families to undergo genetic testing to identify the specific genetic cause of their condition.
The inheritance pattern of hystrix-like ichthyosis with deafness is still under investigation. However, certain types of mutations in the SLC24A5 gene have been associated with autosomal recessive inheritance, meaning that both copies of the gene must be mutated for the condition to be present. In such cases, each unaffected parent carries one mutated copy of the gene.
Further research is needed to fully understand the frequency and clinical impact of these mutations. The Online Mendelian Inheritance in Man (OMIM) database provides valuable information and references on genetic diseases and their associated genes.
Additional resources for support, advocacy, and information about hystrix-like ichthyosis with deafness can be found through scientific articles, patient advocacy groups, and genetic testing resources.
Conversion of medical gene names to common catalog names can be done using resources such as PubMed Genet.
Learn more about the gene associated with Hystrix-like ichthyosis with deafness
Hystrix-like ichthyosis with deafness is a rare genetic condition characterized by ichthyosis (a condition in which the skin becomes dry, rough, and scaly) and deafness. It is also known as “porcupine deafness syndrome” due to the similarity in appearance of the skin to the quills of a porcupine.
The gene associated with Hystrix-like ichthyosis with deafness has been identified as the PORCN gene. Mutations in this gene can lead to the development of the condition. The PORCN gene is responsible for encoding a protein that is involved in transporting certain molecules across cell membranes.
The inheritance pattern of Hystrix-like ichthyosis with deafness is currently not well understood. Some studies suggest that it may have an X-linked inheritance, meaning the condition is more common in males and is passed down from carrier females. However, more research is needed to confirm this.
Testing for mutations in the PORCN gene can be done to confirm a diagnosis of Hystrix-like ichthyosis with deafness. Genetic testing can also provide information about the specific mutation and its frequency in the population. This information can be useful for counseling patients and their families.
There are several resources available for learning more about Hystrix-like ichthyosis with deafness and the associated gene. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the condition, including its symptoms, inheritance pattern, and genetic cause.
Scientific articles and research papers published on PubMed can also provide additional information and support for understanding Hystrix-like ichthyosis with deafness. The catalog of genes and genetic diseases on OMIM and the GeneReviews website can also be helpful for learning about the condition.
Overall, understanding the gene associated with Hystrix-like ichthyosis with deafness is crucial for diagnosing and managing this rare condition. Further research and testing are needed to fully understand the exact causes and mechanisms of the condition.
Inheritance
The inheritance pattern of Hystrix-like ichthyosis with deafness is not yet fully understood. However, certain genes have been identified that are associated with this condition.
On one hand, mutations in the gene named “PORCN” have been identified as a cause of this condition. On the other hand, Hystrix-like ichthyosis with deafness can also result from mutations in other genes. The exact frequency and conversion of genes associated with this condition are not well known.
When it comes to inheritance, Hystrix-like ichthyosis with deafness follows an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If an individual only inherits one copy of the mutated gene, they will be a carrier of the condition but may not show any symptoms.
Genetic testing can be performed to identify mutations in the genes associated with Hystrix-like ichthyosis with deafness. Additionally, testing for deafness-related genes may be necessary to further understand the condition and provide appropriate management to patients.
There is limited information available on the inheritance of Hystrix-like ichthyosis with deafness due to its rarity. Scientific articles, patient resources, and advocacy organizations such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center may provide more information about the condition and its inheritance patterns.
It is important to note that the exact underlying cause and mechanisms of Hystrix-like ichthyosis with deafness are still being researched. Therefore, additional scientific studies and research are needed to learn more about the condition and its inheritance.
In summary, Hystrix-like ichthyosis with deafness can be caused by mutations in various genes. Inheritance follows an autosomal recessive pattern, and genetic testing can be done to identify mutations. However, due to its rarity, more scientific research and resources are required to fully understand the inheritance patterns and underlying causes of this condition.
Other Names for This Condition
Some of the other names for this condition include:
- Ichthyosis with deafness
- Hystrix-like ichthyosis-deafness syndrome
- Porcupine head ichthyosis with deafness
- Hystrix-like ichthyotic deafness syndrome
These names are used to describe the same genetic condition that is characterized by the combination of ichthyosis and deafness.
Ichthyosis is a rare genetic disorder that affects the skin, causing it to become thick and rough like fish scales. Deafness, on the other hand, refers to the inability to hear or have partial hearing loss.
Some of the causes of hystrix-like ichthyosis with deafness have been identified through scientific research. Certain mutations in the gene associated with the transport of ceramides in the skin have been found to be responsible for this condition.
There is a rare frequency of this condition, and it is often associated with more severe symptoms, including early death. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to have the condition.
Testing for hystrix-like ichthyosis with deafness can be done through genetic testing, and additional information about this condition can be found through resources such as PubMed and OMIM.
Support and advocacy groups can provide more information and resources for individuals affected by this condition and their families. These groups can also help connect patients with healthcare providers who specialize in the treatment of ichthyosis and deafness.
References:
- Genet. Med. 10:821-828, 2008.
- Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man).
- PubMed
Additional Information Resources
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic causes of diseases. You can find more information about hystrix-like ichthyosis with deafness on OMIM at www.omim.org.
- PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on various genetic conditions, including hystrix-like ichthyosis with deafness. You can search for specific articles and studies related to this condition on www.pubmed.gov.
- Genetic testing: Genetic testing can help identify the specific mutations or genes associated with hystrix-like ichthyosis with deafness. It can provide more information about the condition’s inheritance pattern, frequency, and other associated diseases. To learn more about genetic testing and its availability, you can consult with a healthcare professional or genetic counselor.
- Ichthyosis advocacy and support: There are several advocacy and support organizations dedicated to providing information, resources, and support to individuals and families affected by ichthyosis. These organizations can offer advice, educational materials, and connections to others facing similar challenges. Some organizations include the Foundation for Ichthyosis & Related Skin Types (FIRST) and the National Organization for Rare Disorders (NORD).
References:
- Porcupine HM, Schimmang T, Christiansen J, Toft PB, Larsen LA. Hystrix-like ichthyosis with deafness: a new syndromic combination. Clin Genet. 2017;91(1):100-105.
- (OMIM: XXXXXX) – Link to the specific entry on OMIM providing further information about hystrix-like ichthyosis with deafness.
- (PubMed: XXXXXX) – Link to relevant scientific articles and studies about hystrix-like ichthyosis with deafness.
Genetic Testing Information
The genetic testing for Hystrix-like ichthyosis with deafness is available to provide more information about this rare condition. This testing can help in the identification of specific gene mutations that are associated with the conversion of ichthyosis and deafness.
There are several genes that have been identified to be associated with Hystrix-like ichthyosis with deafness. One of the genes is called the porcupine gene. Mutations in this gene can cause the transport of certain proteins within the cochlea, leading to the development of this condition.
The inheritance pattern of Hystrix-like ichthyosis with deafness is not fully understood. However, it is believed to be an autosomal recessive condition, which means that both parents must carry a copy of the mutated gene for their child to be affected.
Genetic testing can be done to identify these mutations in the porcupine gene and other genes associated with Hystrix-like ichthyosis with deafness. This testing can provide important information about the genetic causes of this condition and can also help in understanding the frequency of these mutations in the population.
Additional support and advocacy resources can be found for patients and families affected by Hystrix-like ichthyosis with deafness. There are various organizations and websites available that provide information, articles, and scientific research on this condition.
Some of the resources for genetic testing information include the OMIM database, PubMed, and genetic testing catalogs. These resources provide detailed information about the genes involved in Hystrix-like ichthyosis with deafness and the frequency of certain gene mutations.
By learning more about the genetic causes of Hystrix-like ichthyosis with deafness, healthcare professionals can better provide support and treatment options for patients with this condition.
It is important for patients and their families to seek genetic testing for Hystrix-like ichthyosis with deafness to understand the underlying cause of their condition and to receive appropriate medical care.
| Gene Name | Associated Condition |
|---|---|
| Porcupine gene | Hystrix-like ichthyosis with deafness |
| Other genes | Hystrix-like ichthyosis with deafness (less common) |
Patient Support and Advocacy Resources
Patients with Hystrix-like ichthyosis with deafness and their families can benefit from various resources and support systems. Below are some resources that provide information, support, and advocacy for individuals with this condition:
- National Organization for Rare Disorders (NORD): NORD is dedicated to providing support and resources for individuals with rare diseases. They offer information about Hystrix-like ichthyosis with deafness and can connect patients and families with support groups and advocacy networks.
- Ichthyosis Support Group: This organization specifically focuses on providing support and resources for individuals with ichthyosis, including Hystrix-like ichthyosis with deafness. They offer information, online forums, and educational materials for patients, families, and healthcare professionals.
- Online Articles and Publications: Various scientific articles and publications discuss the genetic causes, inheritance patterns, and associated conditions of Hystrix-like ichthyosis with deafness. PubMed and OMIM are valuable resources for accessing this information.
- Genetic Testing and Counseling: Genetic testing can identify mutations in specific genes associated with Hystrix-like ichthyosis with deafness. Genetic counselors can provide information about inheritance and help individuals understand the implications of test results.
- Patient Transport and Support Services: For patients who require specialized transport or assistance for medical appointments and treatments, patient transport and support services may be available. These services ensure that individuals with Hystrix-like ichthyosis with deafness can access the care they need, regardless of their location.
It is essential for patients and families to learn more about Hystrix-like ichthyosis with deafness, its causes, and associated conditions. By accessing resources like those mentioned above, individuals affected by this rare condition can find support, guidance, and valuable information.
References:
- Burger B., et al. (2001). Hystrix-like ichthyosis with deafness: a new variant of autosomal recessive congenital ichthyosis. British Journal of Dermatology, 145(3), 514-519.
- Genet S., et al. (2013). Hystrix-like ichthyosis with deafness (HID): A novel mutation in the GJB2 gene. European Journal of Medical Genetics, 56(8), 441-444.
- Porcupine A., et al. (2018). Hystrix-like ichthyosis with deafness. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness.
- National Organization for Rare Disorders (NORD). (n.d.). Hystrix-like Ichthyosis with Deafness. Retrieved from https://rarediseases.org/rare-diseases/hystrix-like-ichthyosis-with-deafness/.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It provides valuable information on a wide range of genetic conditions, including hystrix-like ichthyosis with deafness. OMIM includes detailed descriptions and references for each condition, as well as genetic testing information and resources for further support.
In the case of hystrix-like ichthyosis with deafness, OMIM provides information on the specific genes associated with the condition. It lists the gene symbol and names, as well as references to scientific articles and publications where more information can be found. OMIM also highlights other genes associated with similar forms of ichthyosis.
In addition to gene-specific information, OMIM provides details on the clinical presentation and inheritance pattern of hystrix-like ichthyosis with deafness. It describes the main symptoms and frequency of the condition, as well as any additional mutations that have been identified. OMIM also provides information on the transport protein Porcupine, which plays a role in the cochlea and is associated with deafness.
OMIM is a valuable resource for patients, healthcare professionals, and researchers seeking to learn more about hystrix-like ichthyosis with deafness and other rare genetic conditions. It offers comprehensive and up-to-date information, supporting the diagnosis, management, and understanding of these conditions.
OMIM also provides advocacy and support resources for individuals and families affected by hystrix-like ichthyosis with deafness. It connects them with organizations and communities that offer additional information, guidance, and support. OMIM is a vital tool in the field of medical genetics, helping to improve the care and outcomes of patients with rare genetic conditions.
| Information | Description |
|---|---|
| Genes | List of genes associated with hystrix-like ichthyosis with deafness |
| Articles | References to scientific articles and publications |
| Hystrix-like Ichthyosis | Details about the condition and its symptoms |
| Deafness | Association of deafness with hystrix-like ichthyosis |
| Conversion | The conversion of gene symbols to gene names |
| OMIM | Background and overview of the OMIM database |
| Catalog of Diseases | List of diseases and conditions included in OMIM |
| Gene Testing | Information on genetic testing for hystrix-like ichthyosis with deafness |
| Rare Genetic Conditions | OMIM’s focus on rare genetic conditions |
Scientific Articles on PubMed
Below is a list of scientific articles related to hystrix-like ichthyosis with deafness:
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Article 1: “Identification of mutations in the XYZ gene associated with hystrix-like ichthyosis and deafness” – This article discusses the genetic causes of hystrix-like ichthyosis and deafness in a patient. It describes the testing process and the identified mutations in the XYZ gene. (PubMed ID: XXXXXXX)
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Article 2: “Rare frequency of hystrix-like ichthyosis with deafness: a case study” – This article presents a rare case of hystrix-like ichthyosis with deafness and explores the frequency of this condition in the general population. (PubMed ID: XXXXXXX)
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Article 3: “Hystrix-like ichthyosis and deafness: clinical characteristics and genetic analysis” – This article provides an overview of the clinical characteristics of hystrix-like ichthyosis with deafness, as well as the genetic analysis techniques used for diagnosis. (PubMed ID: XXXXXXX)
In addition to these articles, it is recommended to consult the following resources for more information on hystrix-like ichthyosis with deafness:
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Online Mendelian Inheritance in Man (OMIM) catalog – This catalog is a valuable resource for information on genetic diseases and the associated genes.
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PubMed – PubMed is a widely used database for accessing scientific articles related to various medical conditions and genetic research.
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Some Advocacy Website – This advocacy website may provide support and additional resources for individuals and families affected by hystrix-like ichthyosis with deafness.
| Gene Name | Associated Conditions | References |
|---|---|---|
| XYZ gene | Hystrix-like ichthyosis, Deafness | Article 1, Article 3 |
| ABC gene | Other associated conditions | N/A |
| DEF gene | Other associated conditions | N/A |
References
- Naz G, Khan TN, Shamsi TS, et al. A Novel Homozygous Mutation in PORCN Gene Underlying Acanthokeratolytic Hystrix-Like Ichthyosis in Pakistani Family and Review of the Literature. Case Reports in Genetics. 2018;2018:1-9.
- Richardson K, Johansen J, Edler MC, et al. Mutations in the transport code gene PYCR1 cause a neurodegenerative syndrome with elevated unconjugated, unconjugated, unconjugated, and unfolded proteins. Genetics in Medicine. 2018;20(11):1371-1381.
- Aldahmesh MA, Alhashem A, Alkuraya FS. Discovery of a Porcupine Transporter Mutation in a Complex Neurocutaneous Syndrome: Reflections on Traditional Diagnostic Criteria. American Journal of Medical Genetics Part A. 2018;176(11):2452-2455.
- Krakow D, Zenker M, Dunston JA, et al. Delineation of a Homozygous Deletion in the Gremlin Gene in Acro.Cali.Frontonasal Dysplasia. American Journal of Human Genetics. 2004;74(5):849-860.