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1.

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
2.

Emanuel syndrome

Emanuel syndrome is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. [from GeneReviews]

MedGen UID:
323030
Concept ID:
C1836929
Disease or Syndrome
3.

Growth hormone excess

Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. [from HPO]

MedGen UID:
1304
Concept ID:
C0001206
Disease or Syndrome
4.

Pituitary adenoma

A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. [from HPO]

MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
5.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
6.

Hyperprolactinemia

Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiologic hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, primarily prolactinomas (see 600634). However, 10 to 60% of patients with hyperprolactinemia who undergo MRI have normal findings (summary by Newey et al., 2013). [from OMIM]

MedGen UID:
5698
Concept ID:
C0020514
Disease or Syndrome
7.

Fibrous dysplasia of the bones

Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). [from HPO]

MedGen UID:
4702
Concept ID:
C0016063
Disease or Syndrome
8.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
9.

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
10.

Prolactin excess

The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. [from HPO]

MedGen UID:
504637
Concept ID:
CN000816
Finding
11.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
12.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
13.

Precocious puberty

The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. [from HPO]

MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome; Finding
14.

Polyostotic fibrous dysplasia of bone

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:
5180
Concept ID:
C0016065
Congenital Abnormality; Disease or Syndrome
15.

Neoplasm of the central nervous system

A neoplasm of the central nervous system. [from HPO]

MedGen UID:
88335
Concept ID:
C0085136
Neoplastic Process
16.

Abnormality of the pituitary gland

Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body. . With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary disorders, but the most common cause is a pituitary tumor.  [from MedlinePlus]

MedGen UID:
45934
Concept ID:
C0032002
Disease or Syndrome
17.

Neoplasm of the nervous system

A tumor (abnormal growth of tissue) of the nervous system. [from HPO]

MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
18.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
19.

Neoplasm of the pituitary gland

Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the master control gland - it makes hormones that affect growth and the functions of other glands in the body. . Pituitary tumors are common, but often they don't cause health problems. Most people with pituitary tumors never even know they have them. The most common type of pituitary tumor produces hormones and disrupts the balance of hormones in your body. This can cause endocrine diseases such as Cushing's syndrome and hyperthyroidism. Symptoms of pituitary tumors include. -Headaches . -Vision problems. -Nausea and vomiting. -Problems caused by the production of too many hormones. Pituitary tumors are usually curable. Treatment is often surgery to remove the tumor. Other options include medicines, radiation therapy, and chemotherapy.  [from MedlinePlus]

MedGen UID:
19326
Concept ID:
C0032019
Neoplastic Process
20.

Neoplasm of brain

A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, or malignant, with cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are metastatic, and they start somewhere else in the body and move to the brain. Brain tumors can cause many symptoms. Some of the most common are. -Headaches, often in the morning . -Nausea and vomiting. -Changes in your ability to talk, hear, or see. -Problems with balance or walking. -Problems with thinking or memory . -Feeling weak or sleepy. -Changes in your mood or behavior. -Seizures. Doctors diagnose brain tumors by doing a neurologic exam and tests including an MRI, CT scan, and biopsy. Treatment options include watchful waiting, surgery, radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Many people get a combination of treatments. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
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