TTC4, tetratricopeptide repeat domain 4, 7268

N. diseases: 32; N. variants: 1
Disease: Crigler Najjar syndrome, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.010 GeneticVariation disease BEFREE In patients with complete UGT1A1 deficiency (type 1 CNS [CNS-I]), unconjugated bilirubin levels increase 3-6 mg/dL/day during the newborn period and reach neurologically dangerous levels between 5 and 14 days of age. 31495946 2019