Phenotypes associated with the disease Familial multinodular goiter (ORPHA:276399):
- Multinodular goiter (HP:0005987): Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:276399)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Pleuropulmonary blastoma (HP:0100528): A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Ovarian neoplasm (HP:0100615): A tumor (abnormal growth of tissue) of the ovary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Testicular seminoma (HP:0100617): The presence of a seminoma, an undifferentiated germ cell tumor of the testis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Sertoli cell neoplasm (HP:0100619): The presence of a neoplasm of the testis with origin in a Sertoli cell. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Colorectal polyposis (HP:0200063): Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:276399)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276399)
- Alveolar rhabdomyosarcoma (HP:0006779). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276399)
- Cerebellar medulloblastoma (HP:0007129). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276399)
- Medulloepithelioma (HP:0030071): A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276399)
- Pilomatrixoma (HP:0030434): Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:276399)
Not associated with this disease:
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. (ORPHA:276399)