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Items: 9

1.

Sarcoidosis, early-onset

Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints.Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness.Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
[from GHR]

MedGen UID:
373021
Concept ID:
C1836122
Disease or Syndrome
2.

Blau syndrome

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). [from OMIM]

MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
3.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
4.

Disorder of gastrointestinal tract

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
5.

Gastroenteritis

Have you ever had the stomach flu? What you probably had was gastroenteritis - not a type of flu at all. Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites. Viral gastroenteritis is the second most common illness in the U.S. The cause is often a norovirus infection. It spreads through contaminated food or water, and contact with an infected person. The best prevention is frequent hand washing. . Symptoms of gastroenteritis include diarrhea, abdominal pain, vomiting, headache, fever and chills. Most people recover with no treatment. The most common problem with gastroenteritis is dehydration. This happens if you do not drink enough fluids to replace what you lose through vomiting and diarrhea. Dehydration is most common in babies, young children, the elderly and people with weak immune systems. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
8967
Concept ID:
C0017160
Disease or Syndrome
6.

Acetylation

Acetylation involves the covalent linkage of an acetyl group into an organic molecule. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
7.

Abnormality of the intestine

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [from HPO]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
8.

Abnormality of the gastrointestinal tract

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
9.

Disorder of colon

Your colon, also known as the large intestine, is part of your digestive system. It's a long, hollow tube at the end of your digestive tract where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some of these include. -Colorectal cancer . - Colonic polyps - extra tissue growing in the colon that can become cancerous. - Ulcerative colitis - ulcers of the colon and rectum. - Diverticulitis - inflammation or infection of pouches in the colon. - Irritable bowel syndrome - an uncomfortable condition causing abdominal cramping and other symptoms. Treatment for colonic diseases varies greatly depending on the disease and its severity. Treatment may involve diet, medicines and in some cases, surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
1049
Concept ID:
C0009373
Disease or Syndrome
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