Catalog
Tuberous sclerosis
Link to WHO Definition
Tuberous sclerosis – http://id.who.int/icd/entity/1903085809
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.
Parents
- LD2D Phakomatoses or hamartoneoplastic syndromes
- LD27.5 Genetic hamartoneoplastic syndromes affecting the skin
- Inherited cancer-predisposing syndromes
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- Syndromes with features of hereditary cystic or dysplastic kidney disease, dominant inheritance