Osteogenesis Imperfecta, Type Xii malady
Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral diseases
Aliases & Descriptions for Osteogenesis Imperfecta, Type Xii:
osteogenesis imperfecta, type xii:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Oral diseases
UniProtKB/Swiss-Prot:69 Osteogenesis imperfecta 12: 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. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae.
MalaCards based summary: Osteogenesis Imperfecta, Type Xii, also known as osteogenesis imperfecta type xii, is related to inflammatory bowel disease 22 and osteogenesis imperfecta, type iii, and has symptoms including abnormality of cardiovascular system morphology, narrow mouth and high palate. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.
Disease Ontology:11 An osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13.
OMIM:51 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low... (613849) more...
Human phenotypes related to Osteogenesis Imperfecta, Type Xii:63 (show all 17)
MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Xii:35
Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Xii:5
Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Xii.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet