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Items: 1 to 20 of 23

1.

Insulin resistance

Decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia. [from NCI]

MedGen UID:
43904
Concept ID:
C0021655
Pathologic Function
2.

Polycystic ovaries

Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or obese and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control blood sugar levels. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood sugar levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood sugar levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood sugar levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression. [from MedlinePlus Genetics]

MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
3.

Hermansky-Pudlak syndrome 10

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. [from GeneReviews]

MedGen UID:
934713
Concept ID:
C4310746
Disease or Syndrome
4.

Ovarian dermoid cyst

An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. [from HPO]

MedGen UID:
68637
Concept ID:
C0237020
Neoplastic Process
5.

Infertility

Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. [from NCI]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Pathologic Function
6.

Syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Diabetes mellitus

A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. [from NCI]

MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
8.

Inflammation

A localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
9.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
10.

Increased reactive oxygen species production

An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. [from HPO]

MedGen UID:
1390274
Concept ID:
C4476796
Cell or Molecular Dysfunction
11.

Diabetes

MedGen UID:
729293
Concept ID:
C1320657
Finding
12.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
13.

Disorder of endocrine system

A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. [from NCI]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
14.

Glucose metabolism disease

A metabolic disorder characterized by abnormal blood glucose levels. [from NCI]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
15.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
16.

Hyperinsulinemia

An increased concentration of insulin in the blood. [from HPO]

MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome; Finding
17.

Ovarian cyst

A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods. [from NCI]

MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
18.

Gonadal disease

A non-neoplastic or neoplastic disorder that affects the testis or the ovary. [from NCI]

MedGen UID:
9074
Concept ID:
C0018050
Disease or Syndrome
19.

Genetic endocrine growth disease

MedGen UID:
891600
Concept ID:
CN237424
Disease or Syndrome
20.

Metabolic syndrome, susceptibility to

MedGen UID:
436596
Concept ID:
C2676079
Finding
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