Osteogenesis Imperfecta, Type Ii (OI2)

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Disease Ontology 12 DOID:0110341 OMIM® 57 166210 OMIM Phenotypic Series 57 PS166200 MeSH 44 D010013 ICD10 32 Q78.0 ICD10 via Orphanet 33 Q78.0

UMLS via Orphanet 72 C0268358 Orphanet 58 ORPHA216804 MedGen 41 C0268358 C0268360 SNOMED-CT via HPO 68 113194005 134291007 204164000 206538000 263681008 267258002 276509008 276610007 276709006 277797007 282020008 367494004 409623005 42343007 49550006 5468008 84114007 91434003 more UMLS 71 C0268358

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 216804DefinitionOsteogenesis 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 vrolik type of osteogenesis imperfecta, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type viii. 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. Affiliated tissues include bone, eye and heart, and related phenotypes are respiratory insufficiency and congestive heart failure

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ 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.

Clinical features from OMIM®:

166210 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-10	9.53	KCNE2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.53	CACNA1F
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-117	9.53	CACNA1F COL5A2 KCNE2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.53	CACNA1F
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-18	9.53	COL5A2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	9.53	COL5A2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	9.53	KCNE2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-212	9.53	KCNE2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.53	CACNA1F
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.53	CACNA1F COL5A2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.53	CACNA1F
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	9.53	KCNE2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.53	CACNA1F

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