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1.

Thyroid carcinoma

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you. -Are between ages 25 and 65. -Are a woman. -Are Asian. -Have a family member who has had thyroid disease. -Have had radiation treatments to your head or neck. You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, thyroid tests, other blood and imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
107811
Concept ID:
C0549473
Neoplastic Process
2.

McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating mutation of GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous additional tissues may be affected. Café-au-lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to a severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity. [from GeneReviews]

MedGen UID:
69164
Concept ID:
C0242292
Disease or Syndrome
3.

Thyroid carcinoma

The presence of a carcinoma of the thyroid gland. [from HPO]

MedGen UID:
505391
Concept ID:
CN002613
Finding
4.

Malignancy

MedGen UID:
924235
Concept ID:
C4282132
Neoplastic Process
5.

Hyperplasia

An abnormal increase in the number of cells in an organ or tissue. [from NCI]

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
6.

Thyroid nodule

A nodular lesion that develops in the thyroid gland. Causes include adenoma, thyroiditis, fluid-filled cyst, multinodular goiter, and carcinoma. [from NCI]

MedGen UID:
21547
Concept ID:
C0040137
Neoplastic Process
7.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Hyperthyroidism

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Graves' disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include. -Being nervous or irritable. -Mood swings. -Fatigue or muscle weakness. -Heat intolerance. -Trouble sleeping. -Hand tremors. -Rapid and irregular heartbeat. -Frequent bowel movements or diarrhea. -Weight loss. -Goiter, which is an enlarged thyroid that may cause the neck to look swollen. To diagnose hyperthyroidism, your doctor will do a physical exam, look at your symptoms, and do thyroid tests. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
9.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
10.

Papillary Adenocarcinoma

An adenocarcinoma with papillary growth pattern. [from NCI]

MedGen UID:
123
Concept ID:
C0001420
Neoplastic Process
11.

Café au Lait

MedGen UID:
912718
Concept ID:
CN244027
Finding
12.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
13.

thyroid cancer

MedGen UID:
880181
Concept ID:
CN235603
Finding
14.

Thyroid cancer

MedGen UID:
808135
Concept ID:
CN221577
Disease or Syndrome
15.

Cushing syndrome

Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. [from ORDO]

MedGen UID:
797996
Concept ID:
CN205287
Disease or Syndrome
16.

Skin pigmentation

MedGen UID:
693490
Concept ID:
C1269684
Finding
17.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
18.

Polyostotic fibrous dysplasia

Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. [from HPO]

MedGen UID:
506395
Concept ID:
CN009561
Finding
19.

Hyperthyroidism

An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). [from HPO]

MedGen UID:
504619
Concept ID:
CN000782
Finding
20.

Cushing syndrome

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation of 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele. [from OMIM]

MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
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