MCID: OST135
MIFTS: 56
|
Osteogenesis Imperfecta, Type I
Categories:
Genetic diseases, Rare diseases, Oral diseases, Bone diseases, Fetal diseases
|
|
MalaCards integrated aliases for Osteogenesis Imperfecta, Type I:
Characteristics:Orphanet epidemiological data:55
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; OMIM:53
Inheritance:
autosomal dominant
Miscellaneous:
onset of fracture usually when child begins to walk fracture frequency constant through childhood, decreases after puberty fractures often heal without deformity fracture frequency increases after menopause and in men ages 60-80 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Oral diseases Bone diseases
ICD10:
32
33
|
NIH Rare Diseases
:
49
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
Last updated: 12/2/2015
MalaCards based summary : Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v, and has symptoms including osteopenia, hearing impairment and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, eye and skin, and related phenotypes are cardiovascular system and growth/size/body region OMIM : 53 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I. (166200) UniProtKB/Swiss-Prot : 71 Osteogenesis imperfecta 1: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:166200Human phenotypes related to Osteogenesis Imperfecta, Type I:31 (show all 16)
MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:43
|
Interventional clinical trials:![]()
|
MalaCards organs/tissues related to Osteogenesis Imperfecta, Type I:38
Bone,
Eye,
Skin,
Testes,
Kidney
|
Articles related to Osteogenesis Imperfecta, Type I:(show top 50) (show all 61)
|
UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type I:71 (show all 26)
ClinVar genetic disease variations for Osteogenesis Imperfecta, Type I:6 (show top 50) (show all 162)
|
Search
GEO
for disease gene expression data for Osteogenesis Imperfecta, Type I.
|
Pathways related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:
|
Cellular components related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:
Biological processes related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:
|
|