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obsolete genetic disorder
ICD-10 Codes
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Description
Obsolete Genetic Disorders
There are several obsolete genetic disorders that were once recognized but have since been reclassified or removed from medical terminology.
- Complex Genetic Disease: This term was used to describe a genetic disease that required multiple abnormal alleles to manifest. These diseases were termed multifactorial or polygenic (3, 9).
- Genetic Avascular Necrosis: This obsolete term referred to an instance of avascular necrosis caused by a modification of the individual's genome (4).
These disorders are no longer considered valid medical terms and have been replaced with more specific and accurate descriptions.
What is a Genetic Disorder?
A genetic disorder, on the other hand, is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence (6). These disorders can be caused by mutations in one or more genes and can affect various aspects of an individual's health.
- Definition: A genetic disorder describes a heterogeneous group of conditions that are at least partially caused by changes in a person's hereditary information (10).
References
- [5] - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.
- [6] - May 18, 2018 — A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.
- [3] - obsolete complex genetic disease. Term ID: DOID:0050178; Synonyms. Definition: A genetic disease that require multiple abnormal alleles to manifest are complex.
- [4] - OBSOLETE. An instance of avascular necrosis that is caused by a modification of the individual's genome. Synonyms. genetic avascular necrosis ...
- [9] - Definition. A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic.
- [10] - Genetic disorder describes a heterogeneous group of conditions that are at least partially caused by changes in a person's hereditary information.
Additional Characteristics
- Complex Genetic Disease: A genetic disease that required multiple abnormal alleles to manifest.
- Genetic Avascular Necrosis: An instance of avascular necrosis caused by a modification of the individual's genome.
- What is a Genetic Disorder?: A disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.
- Definition: A genetic disorder describes a heterogeneous group of conditions that are at least partially caused by changes in a person's hereditary information.
Signs and Symptoms
Based on the provided context, it appears that there are no direct results related to an "obsolete genetic disorder". However, I can try to provide some general information on this topic.
Obsolete Genetic Disorders
There have been several genetic disorders that were once considered prevalent but have since become rare or obsolete due to advances in medical technology and understanding of the human genome. Some examples include:
- Tay-Sachs disease: A genetic disorder caused by a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 ganglioside in neurons. This condition was once considered fatal but is now rare due to genetic screening and prenatal testing.
- Cystic fibrosis: While still prevalent today, cystic fibrosis has become more manageable with advances in treatment options such as gene therapy and targeted medications.
However, without specific information on an "obsolete genetic disorder", it's difficult to provide a detailed answer. If you could provide more context or clarify which disorder you are referring to, I'd be happy to try and assist further.
Possible Causes of Obsolete Genetic Disorders
There are several reasons why genetic disorders may become obsolete:
- Advances in medical technology: Improved diagnostic tools and treatments can lead to a decrease in the prevalence of certain conditions.
- Genetic screening and prenatal testing: The ability to detect genetic mutations before birth or early childhood has reduced the incidence of some disorders.
- Changes in population demographics: Shifts in population genetics, such as increased immigration or changes in reproductive patterns, can affect the frequency of certain genetic disorders.
If you have any further questions or would like me to search for more information on this topic, please let me know!
Additional Symptoms
- Tay-Sachs disease
- Cystic fibrosis
Diagnostic Tests
Based on the provided context, it appears that there are various diagnostic tests for genetic disorders, some of which may be considered obsolete.
- Single-gene testing is mentioned in [1] as a type of genetic test that has evolved over time. However, its relevance to modern diagnostic practices is unclear.
- Clinical diagnostic whole-exome sequencing (WES) is highlighted in [3] as a powerful tool for patients with undiagnosed genetic disorders. This suggests that WES may be a more contemporary and effective approach compared to single-gene testing.
- Chromosomal analyses, arrays, and fragile X testing are mentioned in [4] as types of dispensable genetic diagnostics. While these tests may still have some relevance, their obsolescence is not explicitly stated.
It's worth noting that the discontinuation of Sema4/GeneDx for genetic testing associated with the Genetic and Wellness Assessment, as mentioned in [2], does not necessarily imply that diagnostic tests for obsolete genetic disorders are no longer available. However, it may indicate a shift towards more contemporary and effective diagnostic approaches.
In summary, while there are various diagnostic tests for genetic disorders, some of which may be considered obsolete, the most relevant and effective approaches appear to be clinical diagnostic whole-exome sequencing (WES) and other modern techniques.
References: [1] - Genetic testing has evolved from single-gene tests toward more complex tests that measure multiple genes. [3] - Clinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. [4] - The different types of dispensable genetic diagnostics are mainly constituted by chromosomal analyses, arrays, single gene testing, fragile X ...
Additional Diagnostic Tests
- Clinical diagnostic whole-exome sequencing (WES)
- single-gene testing
- Chromosomal analyses, arrays, and fragile X testing
Treatment
Treatment Options for Rare Genetic Disorders
While there are no specific treatment options mentioned in the search results for a particular rare genetic disorder, researchers have identified potential treatments for certain conditions.
- Existing drug shows promise: A study found that an existing drug approved to treat autoimmune diseases and cancers successfully alleviated symptoms of Autoimmune Polyendocrine Syndrome Type 1 (APS-1) [2].
- Augmentation therapy: The only currently approved treatment option for Alpha-1 Antitrypsin Deficiency (AATD) is augmentation therapy, which involves delivering normal alpha-1 antitrypsin collected from donors [4].
Investigational Drugs
Several investigational drugs are being explored for the treatment of rare genetic disorders. For example:
- Zatolmilast: This drug is believed to work by modulating a signaling molecule called cyclic AMP (cAMP), which may promote the maturation of certain cells [8].
- Kebilidi (eladocagene exuparvovec-tneq): This gene therapy has been approved for the treatment of a specific genetic disorder, marking a groundbreaking approval by the FDA [13].
General Information
While these findings are promising, it's essential to note that each rare genetic disorder is unique, and treatment options may vary depending on the specific condition. Researchers continue to explore new treatments and therapies to improve patient outcomes.
References:
[1] Search result 2 [2] Search result 3 [4] Search result 5 [8] Search result 9
Recommended Medications
- Augmentation therapy
- Zatolmilast
- Kebilidi (eladocagene exuparvovec-tneq)
- drug
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Based on the provided context, it appears that there are several genetic disorders listed, but I will focus on providing a differential diagnosis for an "obsolete" genetic disorder.
From search result [9], we can see that the document provides a differential diagnosis of genetic conditions associated with Congenital Muscular Myopathies (CMM), classified as inborn errors of metabolism, malformation syndromes, and other conditions. However, since you mentioned an "obsolete" genetic disorder, I will focus on a condition that is no longer commonly diagnosed or recognized.
One such condition could be Friedreich's Ataxia. This condition was once considered a distinct
Additional Differential Diagnoses
- Friedreich's Ataxia
- 3MC syndrome
- hereditary spastic paraplegia 46
Additional Information
- core#notation
- DOID:0050325
- rdf-schema#label
- obsolete genetic disorder
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_378
- owl#annotatedSource
- t327807
- relatedICD
- http://example.org/icd10/E07.1
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050325
- IAO_0000115
- A medical disorder that is an illness caused by abnormalities in genes or chromosomes.
- owl#deprecated
- true
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