Diseases That Start With X

Diseases That Start With X

Today’s post is all about diseases that start with X.

Diseases are widespread medical conditions that can negatively impact the quality of life and potentially cause death. They can be infectious or non-infectious, acute or chronic, and are caused by a variety of factors ranging from lifestyle habits to environmental exposure. The symptoms of a disease can range from mild to severe and are unique depending on the illness. Effective diagnosis and management of diseases require a collaborative effort between the patient and medical practitioners, often involving careful monitoring, therapy, or surgery.

It was not an easy task to compile a comprehensive list of diseases for all letters of the alphabet. I had to meticulously search for medical terminologies, categorize each condition by the letter, and research any uncategorized ailment that started with any of the last few letters. It was a challenging but rewarding experience.

So, let’s begin exploring this list of diseases starting with X!

20 Diseases That Start With X

And here’s the list of diseases that begin with X letter.

X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency (XSCID) is a rare genetic disorder that results in the immune system of an individual being unable to properly function due to a lack of T-cells and natural killer cells. This deficiency leaves individuals susceptible to recurrent infections, chronic diarrhea, and skin rashes. XSCID is caused by a mutation in the IL2RG gene found on the X chromosome. Because it is an X-linked disorder, males are typically more affected than females. Bone marrow transplant and gene therapy are potential treatments for the disorder.

X-linked mental retardation

X-linked mental retardation (XLMR) is a genetic disorder that results in various degrees of intellectual disabilities in affected individuals. It is caused by mutations of genes on the X chromosome, which predominantly affect males since they inherit only one X chromosome. Common symptoms include developmental delays and learning disabilities, poor motor coordination, and difficulty with speech and language. There is currently no cure for XLMR, but early intervention, therapy, and special education can help manage symptoms and improve the quality of life for affected individuals and their families.

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XX Male Syndrome

XX Male syndrome, also known as De la Chapelle syndrome, is a rare genetic condition that causes individuals with two X chromosomes to develop male characteristics. It is caused by an irregular exchange of genetic material during meiosis, whereby a piece of the Y chromosome is translocated onto an X chromosome. Symptoms include the presence of testes, infertility, and the development of masculine secondary sex characteristics such as facial hair and a deep voice. Treatment options include hormone therapy to help balance testosterone levels.

X-linked lymphoproliferative syndrome

X-linked lymphoproliferative syndrome (XLP) is a rare genetic disorder that affects the immune system. It is caused by mutations in the SH2D1A gene, which is located on the X chromosome. Symptoms can range from mild to life-threatening, with the most severe cases resulting in organ failure and lymphoma. Treatment options include stem cell transplantation and regular monitoring for signs of lymphoma development.

XY Female

XY female syndrome, also known as Swyer syndrome, is a genetic disorder where individuals with an XY chromosome are born with female physical characteristics. This is due to a genetic mutation on the SRY gene that causes testicular development to be inhibited, resulting in ovaries developing instead. Symptoms may include a lack of menstruation, infertility, and underdeveloped breasts. Hormone replacement therapy may be used to help maintain normal estrogen levels and prevent osteoporosis.


Xanthinuria is a genetic disorder that affects the metabolism of purines, which are the building blocks of DNA and RNA. Individuals with xanthinuria are unable to properly break down the purine xanthine into uric acid, which can lead to stone formation in the urinary tract. Symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine. Treatment options include dietary modifications and medication to help dissolve kidney stones.

Xanthine oxidase deficiency

Xanthine oxidase deficiency is a rare genetic disorder that results in a lack of the enzyme xanthine oxidase. This enzyme is important for processing purines, and a deficiency can cause an overproduction of hypoxanthine and xanthine, which can lead to stones in the urinary tract and gout. Neuropsychiatric symptoms and myopathy have also been observed in some individuals with the disorder. Treatment options are limited, but dietary management and medication can help manage symptoms.

X-linked dominance

X-linked dominance is a type of genetic inheritance where a dominant allele on the X chromosome will produce a phenotype in both males and females, even when the recessive allele is also present. This is due to the fact that males only inherit one X chromosome, while females inherit two. Examples of X-linked dominant disorders include Rett syndrome and hypophosphatemic rickets.

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X-linked trait

X-linked traits are genetic characteristics that are linked to the X chromosome. These traits are typically inherited differently in males and females, as females have two X chromosomes while males only have one. Some examples of X-linked traits include red-green color blindness and hemophilia.

XXXXX syndrome

XXXXX syndrome, also known as pentasomy X, is a genetic disorder characterized by the presence of five X chromosomes in females. Symptoms can vary but may include cognitive impairments, developmental delays, and an increased risk of seizures and other neurological conditions. Treatment options may include occupational therapy, speech therapy, and medication to help manage associated conditions.


Xerostomia, also known as dry mouth, is a condition characterized by a reduction in the production of saliva. Saliva plays an important role in digestion, maintaining oral health, and preventing infection. Xerostomia can be caused by a number of factors, including medication use, radiation therapy, and autoimmune disorders. Symptoms may include difficulty swallowing, bad breath, and an increased risk of oral infections such as thrush. Treatment options range from lifestyle modifications such as drinking more water to medication to stimulate saliva production.

XXXX syndrome

XXXX syndrome, also known as tetrasomy X, is a chromosomal condition where females have four X chromosomes. Symptoms can vary and may include mental and developmental disabilities, speech and language difficulties, and skeletal abnormalities. Treatment options may include therapy to help manage symptoms and improve functionality.

XYY syndrome

XYY syndrome is a chromosomal condition where males have an additional Y chromosome. This condition is often asymptomatic and may go undiagnosed, but some individuals may experience developmental delays, learning disabilities, and behavioral problems. Treatment options may include therapy and education to help manage symptoms.

X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a genetic disorder where individuals are born with an absent or deficient immune system. This disorder is caused by a mutation in the BTK gene on the X chromosome, which is responsible for the development of B-cells in the immune system. Symptoms may include recurrent bacterial and viral infections, inflammation, and diarrhea. Treatment options include immunoglobulin replacement therapy and antibiotics to manage infections.


Xerophthalmia is a condition where an individual experiences dryness and inflammation of the eyes due to a deficiency in vitamin A. This condition is commonly found in developing countries where poor nutrition is prevalent. Symptoms may include dry eyes, night blindness, and corneal ulcers. Treatment options include vitamin A supplements and dietary modifications.

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X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that causes the adrenal gland to be unable to properly break down fatty acids. This results in a buildup of fatty acids in the body and damage to the myelin sheath that surrounds nerve cells in the brain. Symptoms may include cognitive and neurological impairments, vision and hearing problems, and adrenal gland dysfunction. Treatment options include gene therapy and stem cell transplantation.

X-linked ichthyosis

X-linked ichthyosis is a rare genetic disorder that results in dry, scaly skin due to abnormalities in the production of the protein filaggrin. This disorder is caused by mutations in the STS gene on the X chromosome. Symptoms may include thick, scaly patches on the skin, and a fish-like smell due to the accumulation of skin cells. Treatment options include emollients to moisturize the skin and topical retinoids to help reduce scaling and improve skin texture.

Xanthomatosis cerebrotendinous

Xanthomatosis cerebrotendinous is a rare genetic disorder where deposits of cholesterol build up in the brain and other tissues throughout the body. Symptoms may include seizures, developmental delays, and premature atherosclerosis. Treatment options are limited, and management focuses on reducing symptoms and slowing down disease progression.

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita (AHC) is a rare genetic disorder where the adrenal glands do not develop properly, resulting in an inability to produce certain hormones. This disorder is caused by mutations in the NR0B1 gene on the X chromosome. Symptoms may include adrenal insufficiency, failure to thrive, and genital abnormalities in males. Treatment options include hormone replacement therapy to manage symptoms.


Xeroderma, also known as xeroderma pigmentosum, is a genetic disorder that results in a heightened sensitivity to sunlight and an inability to repair DNA damage caused by UV radiation. Symptoms may include dry, scaly skin, and an increased risk of skin cancer. Treatment options include reducing sun exposure and regular skin cancer screening.

Wrapping Up

And that’s our list of X diseases.

My approach to creating a list of diseases that started with every alphabet was systematic and thorough. I began by studying various medical databases and cross-referencing them to ensure that each medical condition was correctly categorized and that I did not miss adding any disease that started with each alphabet.

As we come to the end of our analysis on the topic of diseases, it is evident that they have a far-reaching impact on human health, society, and economies. They erode quality of life and burden healthcare systems, which can lead to long-term suffering and economic losses. Therefore, it’s important for individuals, communities, and governments to work together in addressing this challenge.

Hope this post on diseases beginning with X alphabet has been useful to you!