Diseases

Chromosome 8 deletion

Chromosome 8 deletion is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 8 deletion, or a subtype of Chromosome 8 deletion, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 8 ring

A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism.

Chromosome 8- monosomy 8p

A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.

Chromosome 8- monosomy 8p2

Chromosome 8, Monosomy 8p2 is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome.

Chromosome 8- monosomy 8p23 1

A rare chromosomal disorder involving the deletion of a portion of the short arm of chromosome 8. The symptoms are determined by the size and exact location of the deleted portion.

Chromosome 8- monosomy 8q

A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.

Chromosome 8- mosaic trisomy

A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.

Chromosome 8- partial trisomy

Chromosome 8, partial trisomy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 8, partial trisomy, or a subtype of Chromosome 8, partial trisomy, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 8- trisomy

A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.

Chromosome 8- trisomy 8p

A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.

Chromosome 8- trisomy 8q

A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.

Chromosome 9 inversion or duplication

Trisomy 9 translocation is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Trisomy 9 translocation, or a subtype of Trisomy 9 translocation, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9 Ring

A rare chromosomal abnormality where genetic material from the two ends is missing and the two ends rejoin to form a ring. The symptoms are determined by the size and exact location of the deleted portion.

Chromosome 9- duplication 9q21

Chromosome 9, duplication 9q21 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, duplication 9q21, or a subtype of Chromosome 9, duplication 9q21, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9- monosomy 9p

A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.

Chromosome 9- partial monosomy 9p

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome.

Chromosome 9- partial trisomy 9p

Chromosome 9, partial trisomy 9p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, partial trisomy 9p, or a subtype of Chromosome 9, partial trisomy 9p, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Chromosome 9- tetrasomy 9p

Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.

Chromosome 9- trisomy 9q

A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.

Chromosome 9- trisomy 9q32

A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.

Chromosome 9- trisomy mosaic

Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.

Chronic Active Epstein Barr Virus Infection

Epstein-Barr virus, chronic: A form of human herpes virus that produces persistent symptoms. Most people become infected with the virus at some stage in their life though they usually have few if any symptoms. However, some people develop severe symptoms as a result of an EBV infection.

Chronic Granulomatous Disease

CGD is a rare disease. There are about 20 people born with CGD each year in the United States.

People with CGD have an immune system that doesn’t work properly. A healthy immune system usually prevents infections from becoming serious. An immune system with CGD can typically stop viral infections like a cold or flu, but can’t stop serious infections started by certain bacteria and fungi. Since CGD is a chronic condition, it means that a person will have the disease for all of his or her life.

CGD isn’t something you can catch. It’s a genetic condition, which means you’re born with it. It’s passed down to a child from 1 or both parents who can be “carriers.” A carrier doesn’t have the disease, but his or her children can end up with it. Carriers of CGD have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right. There are 2 types of CGD: X-linked and autosomal recessive.

X-linked CGD

The most common form of CGD is X-linked. It’s passed down from the mother because she carries a faulty X chromosome. This means she is a carrier of CGD. Usually only males get X-linked CGD. A male born to a carrier mother has a 50% chance of having CGD.

Chronic hiccup

A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time.

Chronic inflammatory demyelinating polyneuropathy

Chronic inflammatory demyelinating polyneuropathy is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. CIDP is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain-Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. An asymmetrical variant of CIDP is known as Lewis Sumner-Syndrome. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.

Chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) is a cancer of the lymphocytes that begins in the stem cells of the bone marrow and then invades the blood. The term "chronic" in chronic lymphocytic leukemia comes from the fact that it typically progresses more slowly than other types of leukemia. The term "lymphocytic" refer to the cells affected by the disease — a group of white blood cells called lymphocytes, which help your body fight infection. Overtime, CLL may also spread to the lymph nodes and other organs including the liver, spleen and lungs. It occurs when the stem cells that make lymphocytes become out of control and produce increasing amounts of abnormal lymphocytes (also called leukemic cells). Eventually, these abnormal cells replace normal lymphocytes and can crowd out other types of normal blood cells, leading to the features of the condition. CLL most commonly affects adults over age 45. There are treatments to help control the disease.

Chronic myeloid leukemia

Chronic myelogenous (myeloid)  leukemia (CML) is an uncommon type of cancer of the blood cells. The term "chronic" in chronic myelogenous leukemia indicates that this cancer tends to progress more slowly than acute forms of leukemia. The term "myelogenous" refers to the type of cells affected by this cancer. Chronic myelogenous leukemia typically affects older adults and rarely occurs in children, though it can occur at any age.

The phase of chronic myelogenous leukemia refers to the aggressiveness of the disease.  A higher proportion of diseased cells means chronic myelogenous leukemia is at a more advanced stage.

Phases of chronic myelogenous leukemia include:

  • Chronic. The chronic phase is the earliest phase and generally has the best response to treatment
  • Accelerated. The accelerated phase is a transitional phase when the disease becomes more aggressive
  • Blastic. Blastic phase is a severe, aggressive phase that becomes life-threatening

chronic myelomonocytic leukemia

Chronic myelomonocytic leukemia (CMML) is cancer of the blood. CMML is considered to be one of the myeloproliferative neoplasms (MPNs), a type of chronic blood cancer in which a person’s bone marrow does not make blood effectively.