Osteogenesis Imperfecta, Type Ix malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
Aliases & Descriptions for Osteogenesis Imperfecta, Type Ix:
osteogenesis imperfecta, type ix:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Oral diseases
UniProtKB/Swiss-Prot:69 Osteogenesis imperfecta 9: A 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. OI9 is a severe autosomal recessive form of the disorder.
MalaCards based summary: Osteogenesis Imperfecta, Type Ix, is also known as osteogenesis imperfecta type ix, and has symptoms including blue sclerae, dentinogenesis imperfecta and pectus excavatum. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B). Affiliated tissues include bone.
Disease Ontology:11 An osteogenesis imperfecta that has material basis in mutation in the PPIB gene on chromosome 15q22.
OMIM:51 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...
Human phenotypes related to Osteogenesis Imperfecta, Type Ix:63 (show all 11)
MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Ix:35
UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Ix:69
Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Ix:5
Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Ix.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet