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Items: 14

1.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated. [from GeneReviews]

MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
2.

Intussusception

A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON. [from MeSH]

MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
3.

Familial adenomatous polyposis

MedGen UID:
910615
Concept ID:
CN240755
Disease or Syndrome
4.

Intussusception

An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. [from HPO]

MedGen UID:
505276
Concept ID:
CN002338
Finding
5.

Familial adenomatous polyposis 1

APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of colon cancer at a later age than in FAP. Certain extracolonic manifestations, such as gastric and duodenal polyps or cancers, are variably present in attenuated FAP; risk management may be substantially different between FAP and attenuated FAP. GAPPS is characterized by gastric fundic gland polyposis, increased risk of gastric cancer, and limited colonic involvement in most individuals reported. [from GeneReviews]

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
6.

Lynch syndrome

Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GeneReviews]

MedGen UID:
232602
Concept ID:
C1333990
Neoplastic Process
7.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
8.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.
[from GHR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
9.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
10.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
11.

Genitourinary neoplasm

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

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
12.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
13.

Lentigines

Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). [from MeSH]

MedGen UID:
7301
Concept ID:
C0023321
Disease or Syndrome
14.

Freckling

The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [from HPO]

MedGen UID:
5272
Concept ID:
C0016689
Finding; Finding
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