Name (OI)	Typ	Ursächliches Gen	Vererbungsmodus	Beeinträchtigtes Protein
„Non-deforming OI with blue sclerae”	1	COL1A1	AD	Collagen alpha-1(I) chain
		COL1A2	AD	Collagen alpha-2(I) chain
„Perinatally lethal OI“	2	COL1A1	AD	Collagen alpha-1(I) chain
		COl1A2	AD	Collagen alpha-2(I) chain
		CRTAP	AR	Cartilage-associated protein (CRTAP)
		LEPRE1	AR	Prolyl 3-hydroxylase 1 (P3H1)
		PPIB	AR	Cyclophilin B (CyPB)
„Progressively deforming“	3	COL1A1	AD	Collagen alpha-1(I) chain
		COl1A2	AD	Collagen alpha-2(I) chain
		BMP1	AR	Bonemorphogenetic protein 1
		CRTAP	AR	Cartilage-associated protein (CRTAP)
		FKBP10	AR	Peptidyl-prolyl cis-transisomerase FKBP10
		LEPRE1	AR	Prolyl 3-hydroxylase 1 (P3H1)
		PLOD2	AR	Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
		PPIB	AR	Cyclophilin B (CyPB)
		SERPINH1	AR	Heat shock protein 47 (HSP47)
		TMEM38B	AR	Trimeric intracellular cation channel B (TRIC-B)
		WNT1	AR	Wingless-type MMTV integration site family member 1
		CREB3L1	AR	Old Astrocyte Specifically induced substance (OASIS)
„Common variable OI with normal sclerae“	4	COL1A1	AD	Collagen alpha-1(I) chain
		COL1A2	AD	Collagen alpha-2(I) chain
		WNT1	AD	Wingless-type MMTV integration site family member 1
		CRTAP	AR	Cartilage-associated protein (CRTAP)
		PPIB	AR	Cyclophilin B (CyPB)
		SP7	AR	Osterix
		PLS3	XL	Plastin 3
	5	IFITM5	AD	Interferon-induced transmembrane protein 5
	6	SERPINF1	AR	Pigment-epithelium-derived factor (PEDF)
„Unclassified new forms of OI“	?	SPARC	AR	Secreted Protein, Acidic, Cysteine-Rich (SPARC)
	?	SEC24D	AR	SEC24 COP-II-Component
	?	P4HB	AR	Protein Disulfide Isomerase (PDI)
	?	XYLT2	AR	Xylosyltransferase 2 (XYLT)

OI Osteogenesis imperfecta, AD autosomal-dominant, AR autosomal-rezessiv