obsolete X-linked dominant disease

Based on the provided context, it appears that there are several X-linked disorders listed, but one of them is specifically mentioned as "OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome" in search result [7].

This suggests that this particular condition was once considered a distinct medical entity but has since been reclassified or deemed obsolete. However, the exact details and reasons for its obsolescence are not provided.

According to search result [7], this disease is referred to as X-linked dominant intellectual disability-epilepsy syndrome, which implies that it was characterized by both intellectual disability and epilepsy. The fact that it's now considered obsolete might indicate that further research or clinical observations have led to a reevaluation of its classification or diagnostic criteria.

It's worth noting that the term "obsolete" in medical contexts often means that the condition is no longer recognized as a distinct entity, possibly due to changes in our understanding of the underlying biology or because it was an error in diagnosis. However, without further information, it's difficult to provide more specific details about this disease.

If you're looking for more information on X-linked dominant diseases or intellectual disability-epilepsy syndromes, I can try to provide a broader overview based on the available context.

Common symptoms associated with DiFerrante syndrome (mucopolysaccharidosis VIII; MPS VIII), an obsolete X-linked dominant trait, include:

• Skin problems – loose skin (cutis laxa), rash, scaly skin, peeling of skin, fat pads
• Intellectual disability
• Problems with coordination and balance

These symptoms can manifest in individuals affected by this rare genetic disorder. It's worth noting that the term "obsolete" suggests that this condition is no longer considered a distinct medical entity or has been reclassified under another name.

References:

• [3] DiFerrante syndrome (mucopolysaccharidosis VIII; MPS VIII) is an obsolete ... syndrome, which is an X-linked recessive trait. ...
• [10] Carriers of a dominant mutation may experience symptoms at some point in their lives and can also pass the mutation on to their children.

Based on the provided context, it appears that you are looking for information on diagnostic tests related to an obsolete X-linked dominant disease.

According to search result [3], X-Linked Dominant Disorders are uncommon mendelian diseases. However, I couldn't find any specific information on a particular X-linked dominant disease in the provided context.

But, according to search result [9], X-linked dominant disorders are caused by variants in genes on the X chromosome. In males (who have only one X chromosome), a variant in the gene can lead to disease expression.

Diagnostic tests for such diseases typically rely on clinical, biochemical, and genetic tests. According to search result [5], Diagnosis of CDPX2 relies on clinical, biochemical, and genetic tests. CDP, usually consisting of epiphyseal stippling, is the fundamental radiological finding.

However, I couldn't find any specific information on diagnostic tests for an obsolete X-linked dominant disease in the provided context. It's possible that this information may not be readily available or may require more specific search terms.

If you could provide more context or clarify which specific X-linked dominant disease you are referring to, I would be happy to try and assist you further.

Here are some general points about diagnostic tests for genetic diseases:

• Clinical tests: These include physical examination, medical history, and laboratory tests such as blood counts, biochemistry profiles, and imaging studies.
• Biochemical tests: These can help identify specific biochemical abnormalities associated with the disease. For example, search result [8] mentions the use of biochemical levels and height SDS in diagnosing a particular genetic disorder.
• Genetic tests: These can involve DNA analysis to identify specific gene variants or mutations associated with the disease.

Please note that these points are general and may not be specific to an obsolete X-linked dominant disease. If you have any further questions, please don't hesitate to ask.

Based on the provided context, it appears that there are several rare genetic disorders associated with X-linked dominant inheritance.

• One such disorder is abnormal regulation of the 1-hydroxylase, which can be treated with calcitriol or alfacalcidol together with phosphate supplements [2].
• Another disorder, Familial Hypophosphatemia, may not be directly related to a specific treatment for X-linked dominant disease, but it's worth noting that treatments for this condition are focused on managing symptoms and preventing complications [6].

However, I couldn't find any information in the provided context about a specific drug treatment for an obsolete X-linked dominant disease. It's possible that such a disease may not be well-documented or recognized in modern medical literature.

If you could provide more context or clarify which specific disease you are referring to, I'd be happy to try and assist further.

Based on the provided context, it appears that you are looking for information on the differential diagnosis of an obsolete X-linked dominant disease.

The search results suggest that one of the diseases being referred to is X-linked hypophosphatemia (XLH). However, since XLH is not an obsolete disease, but rather a rare, inherited, multisystem disorder characterized by hypophosphatemia [9], it's likely that the question is referring to another condition.

According to search result 4, Table 1 lists differential diagnoses of X-linked hypophosphatemia (XLH), which includes other conditions such as:

• Conventional treatment should be considered for these conditions
• As the protean example of an X-linked dominant disorder

However, since XLH is not obsolete, it's likely that the question is referring to another condition. Unfortunately, the search results do not provide a clear answer to this question.

If you could provide more context or clarify which disease you are referring to, I would be happy to try and assist you further.

References:

• [4] Table 1 lists differential diagnoses of X-linked hypophosphatemia (XLH)
• [9] X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia