Disease: Arthrogryposis with renal dysfunction and cholestasis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551984
Disease: Arthrogryposis with renal dysfunction and cholestasis syndrome
Arthrogryposis with renal dysfunction and cholestasis syndrome 		0.020 AlteredExpression disease BEFREE As low or normal gamma-glutamyl transpeptidase (GGT) activity has been described in all patients with ARC syndrome identified so far, ARC syndrome is a possible diagnosis for low GGT cholestasis. 24782640 2014
CUI: C4551984
Disease: Arthrogryposis with renal dysfunction and cholestasis syndrome
Arthrogryposis with renal dysfunction and cholestasis syndrome 		0.020 GeneticVariation disease BEFREE ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity.Platelet dysfunction is common. 15052268 2004