Table 2. [COL1A1 Allelic Disorders]. - GeneReviews®

Disorder	Comment
Osteogenesis imperfecta	The majority of pathogenic variants in COL1A1 are assoc w/osteogenesis imperfecta.
Arthrochalasia Ehlers-Danlos syndrome (OMIM 130060)	Phenotype is characterized by extreme joint laxity & congenital hip dislocation but minimal skin involvement.
Classic Ehlers-Danlos syndrome	Three percent of classic EDS is attributed to pathogenic variants in COL1A1.
EDS/OI overlap phenotypes (OMIM 619115)	Three arginine-to-cysteine changes (Arg134Cys, Arg915Cys, & Arg396Cys) in COL1A1 have been reported in an EDS phenotype w/a propensity to arterial rupture in early adulthood [Malfait et al 2007].

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