PTEN hamartoma tumor syndrome
Description
A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
Cell Lines
- BCHi013-A
- BCHi013-A-1
- BCHi013-A-1
- BCHi013-A-2
- BCHi013-A-2
- BCHi013-A-3
- BCHi013-A-3
- BCHi013-A-4
- BCHi013-A-4
- BCHi014-A
- BCHi014-A-1
- BCHi014-A-1
- BCHi014-A-2
- BCHi014-A-2
- BCHi014-A-3
- BCHi014-A-3
- BCHi014-A-4
- BCHi014-A-4
- BCHi014-A-5
- BCHi014-A-5
- BCHi014-A-6
- BCHi014-A-6
- BCHi014-A-7
- BCHi014-A-7
- BCHi014-A-8
- BCHi014-A-8
- BCHi015-A
- BCHi015-A-1
- BCHi015-A-1
- BCHi015-A-2
- BCHi015-A-2
- BCHi015-A-3
- BCHi015-A-3
- BCHi015-A-4
- BCHi015-A-4
- BCHi015-A-5
- BCHi015-A-5
- BCHi015-A-6
- BCHi015-A-6
- BCHi016-A
- BCHi016-A-1
- BCHi016-A-1
- BCHi016-A-2
- BCHi016-A-2
- BCHi016-A-3
- BCHi016-A-3
- BCHi016-A-4
- BCHi016-A-4
- BCHi017-A
- BCHi017-A-1
- BCHi017-A-1
- BCHi017-A-2
- BCHi017-A-2
- BCHi017-A-3
- BCHi017-A-3
- BCHi017-A-4
- BCHi017-A-4
- BCHi017-A-5
- BCHi017-A-5
- BCHi017-A-6
- BCHi017-A-6
- BCHi018-A
- BCHi018-A-1
- BCHi018-A-1
- BCHi018-A-2
- BCHi018-A-2
- BCHi018-A-3
- BCHi018-A-3
- BCHi018-A-4
- BCHi018-A-4
- BCHi018-A-5
- BCHi018-A-5
- BCHi018-A-6
- BCHi018-A-6
- BCHi019-A
- BCHi019-A-1
- BCHi019-A-1
- BCHi019-A-2
- BCHi019-A-2
- BCHi019-A-3
- BCHi019-A-3
- BCHi019-A-4
- BCHi019-A-4
- BCHi019-A-5
- BCHi019-A-7
- BCHi019-A-7
- BCHi020-A-1
- BCHi020-A-2
- BCHi020-A-3
- BCHi020-A-4
- BCHi042-A
- BCHi019-A-5
- BCHi020-A
- BCHi020-A-1
- BCHi020-A-2
- BCHi020-A-3
- BCHi020-A-4
- SCVIi142-A
- SCVIi143-A
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.