OSTEOGENESIS IMPERFECTA, TYPE I (OI1)

Question 1

What is  OSTEOGENESIS IMPERFECTA, TYPE I (OI1)?

Accepted Answer

very rare

autosomal dominant

autosomal recessive

mutation in the COL1A1 or COL1A2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 166200

Question 3

Which enzymes are involved?

Accepted Answer

collagen alpha-1(I) chain; collagen alpha-1(I) chain

Disease	OSTEOGENESIS IMPERFECTA, TYPE I (OI1)
Synonym	OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE
OMIM	166200 OMIM = Online Mendelian Inheritance of Men
Orphanet	666
Protein (UniProt)	collagen alpha-1(I) chain; collagen alpha-1(I) chain
Gene locus	17q21.31
ICD	Q78.0
Summary	very rare autosomal dominant autosomal recessive mutation in the COL1A1 or COL1A2 gene
Laboratory findings
Symptoms	bowing of the legs hearing defect, deafness heart involvement mitral valve prolapse osteopenia otosclerosis sclerae, blue or bluish skeletal changes, skeletal abnormalities skin defects bone fractures joint hypermobilty, dislocations, laxity onset, adolescent onset, childhood onset, infancy onset, neonatal