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Results 1 - 10 of 129 for gland syndrome 1
  1. NKX2-1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  2. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked 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 ...
    https://medlineplus.gov/...ocrinopathy-enteropathy-x-linked-syndrome - Genetics
  3. Li-Fraumeni syndrome 
    ... 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- ...
    https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome - Genetics
  4. Autoimmune Addison disease 
    ... 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. ...
    https://medlineplus.gov/.../condition/autoimmune-addison-disease - Genetics
  5. Axenfeld-Rieger syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  6. Brain-lung-thyroid syndrome 
    ... of genes controlled by homeobox protein Nkx-2.1 is altered, which impedes the ... syndrome, congenital hypothyroidism, and other features of brain-lung- ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  7. MSH2 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  8. Yao syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/yao-syndrome - Genetics
  9. Omenn syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/omenn-syndrome - Genetics
  10. NR5A1 gene 
    ... individuals may also have abnormalities of the adrenal glands, which may ... Swyer syndrome (described above).NR5A1 gene variants that affect gonadal ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
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