Osteogenesis imperfecta

At a minimum, these SNPs are known to be related, and others may also be

	Max Magnitude
rs1057516036	0
rs1057517662	0
rs1057517663	0
rs121912900	0
rs121912901	0
rs121912902	0
rs121912904	0
rs121912906	0
rs121912908	0
rs121912909	0
rs121912910	0
rs139446305	0
rs139955975	0
rs144751329	0
rs193302872	0
rs193302873	0
rs193922137	0
rs193922138	0
rs193922140	0
rs193922141	0
rs193922143	0
rs193922144	0
rs193922145	0
rs193922147	0
rs193922148	0
rs193922149	0
rs193922150	0
rs193922151	0
rs193922152	0
rs193922153	0
rs193922154	0
rs193922155	0
rs193922157	0
rs193922158	0
rs193922159	0
rs193922162	0
rs193922165	0
rs193922166	0
rs193922167	0
rs193922168	0
rs193922173	0
rs193922175	0
rs267606741	0
rs318240762	0
rs34940368	0
rs387907354	0
rs387907355	0
rs387907356	0
rs387907357	0
rs387907358	0
... further results

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX.GHR

Mutations in the COL1A1 and COL1A2 genes cause approximately 90 percent of all cases. Type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 gene. The mutations that cause osteogenesis imperfecta types II, III, and IV occur in either the COL1A1 or COL1A2 gene. Mutations in other genes cause rare forms of osteogenesis imperfecta.GHR

When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of osteogenesis imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. Type V is also inherited in an autosomal dominant pattern.

Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Types VI through XVIII follow this pattern of inheritance.

Osteogenesis imperfecta type XIX is inherited in an X-linked recessive pattern.