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gland syndrome 1
- ... other uncontrolled movements; severe breathing difficulty (respiratory distress syndrome); and reduced thyroid gland function (hypothyroidism).Many of the NKX2-1 gene mutations involved in brain-lung-thyroid syndrome ...
- ... syndrome.The term polyendocrinopathy is used in IPEX syndrome because individuals can develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune condition involving the ...
- ... Li and Fraumeni Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome SBLA syndrome Genetic Testing Registry: Li-Fraumeni syndrome Genetic Testing Registry: Li-Fraumeni syndrome 1 Genetic Testing Registry: Li-Fraumeni syndrome 2 Li- ...
- ... anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause. ...
- ... such as tuberculosis, or tumors in the adrenal glands. Addison disease can also be one of several features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are caused by mutations in other genes. ...
- ... of genes controlled by homeobox protein Nkx-2.1 is altered, which impedes the ... syndrome, congenital hypothyroidism, and other features of brain-lung- ...
- Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first ...
- ... Citation on PubMed Rishi K, Font RL. Sebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a clinicopathologic study of five cases and literature review. Ophthalmic Plast Reconstr Surg. 2004 Jan;20(1):31-6. doi: 10.1097/01.IOP.0000103009. ...
- ... mouth sores, chest pain, and enlargement of various glands.Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) disease, and episodes can recur for many years. Yao syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 ...
- ... lymphocytes. These include the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body.If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2. Overall, the various forms of SCID ...