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Items: 14

1.

SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC

MedGen UID:
865179
Concept ID:
C4016742
Neoplastic Process
2.

MALIGNANT MELANOMA, SOMATIC

MedGen UID:
864720
Concept ID:
C4016283
Neoplastic Process
3.

Prostate cancer, somatic

MedGen UID:
864216
Concept ID:
C4015779
Neoplastic Process
4.

COWDEN DISEASE 1

MedGen UID:
764291
Concept ID:
C3551377
Finding; Gene or Genome
5.

Glioma susceptibility 2

MedGen UID:
414431
Concept ID:
C2751642
Disease or Syndrome; Finding
6.

Vater association with macrocephaly and ventriculomegaly

MedGen UID:
413563
Concept ID:
C2749240
Disease or Syndrome
7.

PTEN hamartoma tumor syndrome with granular cell tumor

MedGen UID:
400984
Concept ID:
C1866376
Neoplastic Process
8.

Macrocephaly/autism syndrome

Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016). [from OMIM]

MedGen UID:
381416
Concept ID:
C1854416
Disease or Syndrome
9.

PTEN hamartoma tumor syndrome

The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GeneReviews]

MedGen UID:
368366
Concept ID:
C1959582
Neoplastic Process
10.

Proteus-like syndrome

Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. [from SNOMEDCT_US]

MedGen UID:
356222
Concept ID:
C1866398
Disease or Syndrome
11.

Lhermitte-Duclos disease

A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms. (from WHO) [from NCI]

MedGen UID:
140251
Concept ID:
C0391826
Congenital Abnormality; Disease or Syndrome; Neoplastic Process
12.

Endometrial carcinoma

A carcinoma of the endometrium, the mucous lining of the uterus. [from HPO]

MedGen UID:
96903
Concept ID:
C0476089
Neoplastic Process
13.

Bannayan-Riley-Ruvalcaba syndrome

The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GeneReviews]

MedGen UID:
78554
Concept ID:
C0265326
Congenital Abnormality; Disease or Syndrome
14.

Meningioma

The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. [from HPO]

MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
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