Osteogenesis Imperfecta, Type Xiii (OI13)

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Disease Ontology 12 DOID:0110342 OMIM 56 614856 OMIM Phenotypic Series 56 PS166200 MeSH 43 D010013

ICD10 32 Q78.0 MedGen 41 C3553887 CN158711 SNOMED-CT via HPO 68 113194005 161832001 204164000 205101001 237836003 248342006 258211005 262285001 275478007 298181000 301348000 396347007 405773007 430099007 49347007 62250003 64859006 74035001 89362005 9634000 more UMLS 71 C3553887

OMIM : ⁵⁶ Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity. (614856)

MalaCards based summary : Osteogenesis Imperfecta, Type Xiii, also known as oi13, is related to surfactant metabolism dysfunction, pulmonary, 2 and osteogenesis imperfecta, type xvii. An important gene associated with Osteogenesis Imperfecta, Type Xiii is BMP1 (Bone Morphogenetic Protein 1). Affiliated tissues include bone and skeletal muscle, and related phenotypes are pectus carinatum and umbilical hernia

Disease Ontology : ¹² An osteogenesis imperfecta that has material basis in mutation in the BMP1 gene on chromosome 8p21.

UniProtKB/Swiss-Prot : ⁷³ Osteogenesis imperfecta 13: An autosomal recessive 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. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.

Clinical features from OMIM:

614856

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Xiii

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Xiii.