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MCID: OST080
MIFTS: 58
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Osteogenesis Imperfecta, Type Ii
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
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MalaCards integrated aliases for Osteogenesis Imperfecta, Type Ii:
Characteristics:Orphanet epidemiological data:59
osteogenesis imperfecta type 2
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
perinatal lethal survival greater than one year rare gonadal and somatic mosaicism reported in parent ultrasound detection in second trimester of pregnancy HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Oral diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 216804Disease definitionOsteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.EpidemiologyThe overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.Clinical descriptionThere are three subtypes of OI type II (A, B and C) that are characterized by different radiological features. Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling of the femur, and OI type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapulae and ischiae, and slender and twisted long bones. Type IIC is extremely rare and its existence is even doubted.EtiologyOI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant. Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations in the CRTAP gene (3p22) (sometimes described as OI type VII) or the LEPRE1 gene (1p34) (sometimes described as OI type VIII) or the PPIB gene (15q21-q22) (sometimes described as OI type IX).Visit the Orphanet disease page for more resources.
MalaCards based summary : Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta type 2, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type vii. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are respiratory insufficiency and platyspondyly Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. OMIM : 57 Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et al., 1979; Barnes et al., 2006). Also see osteogenesis imperfecta type VII (610682), an autosomal recessive form of lethal OI caused by mutation in the CRTAP gene (605497). (166210) UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 2: 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. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:166210Human phenotypes related to Osteogenesis Imperfecta, Type Ii:32 (show all 21)
MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:46 (show all 14)
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Drugs for Osteogenesis Imperfecta, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:
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Genetic tests related to Osteogenesis Imperfecta, Type Ii:
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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Ii:41
Bone,
Skin,
Heart,
Bone Marrow
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Articles related to Osteogenesis Imperfecta, Type Ii:(show all 17)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Ii:75 (show top 50) (show all 121)
ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Ii:6
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Search
GEO
for disease gene expression data for Osteogenesis Imperfecta, Type Ii.
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Pathways related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:
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Cellular components related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:
Biological processes related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Osteogenesis Imperfecta, Type Ii according to GeneCards Suite gene sharing:
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