TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Congenital macrodactylia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.110 GeneticVariation disease BEFREE We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. 27112935 2016
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.110 Biomarker disease HPO