Osteogenesis imperfecta, type V

Preferred Label : Osteogenesis imperfecta, type V;

Symbol : OI5;

CISMeF acronym : OI5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type V;

Description : Osteogenesis imperfecta 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 forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V, in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interferon-induced transmembrane protein 5 gene (IFITM5, 614757.0001);

Laboratory abnormalities : Elevated serum alkaline phosphatase during hyperplastic callus formation; Increased urinary collagen type I N-telopeptide excretion (NTx) during hyperplastic callus formation;

Prefixed ID : #610967;

Details

Origin ID

610967;

UMLS CUI

C2931093;

Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis imperfecta type 5 [ICD-11 More detail]
- Osteogenesis imperfecta type 5 [ORDO Disease]
- Osteogenesis imperfecta type 5 (disorder) [SNOMED CT concept]
- osteogenesis imperfecta type 5 [DO Concept]
- osteogenesis imperfecta type V [Disease (Nov.)]
- osteogenesis imperfecta, type V [MeSH concept]
- osteogenesis imperfecta, type V [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 5 [DO Concept]
Genes related to phenotype
- Interferon-induced transmembrane protein 5 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Anterior radial head dislocation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Blue sclerae [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Hyperextensibility at elbow [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperplastic callus formation [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Limited pronation/supination of forearm [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Recurrent fractures [HPO term]
- Short stature [HPO term]
- Triangular face [HPO term]
- Vertebral wedging [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta type 5 [ICD-11 More detail]
- Osteogenesis imperfecta type 5 [ORDO Disease]
- Osteogenesis imperfecta type 5 (disorder) [SNOMED CT concept]
- osteogenesis imperfecta type 5 [DO Concept]
- osteogenesis imperfecta type V [Disease (Nov.)]
- osteogenesis imperfecta, type V [MeSH concept]
- osteogenesis imperfecta, type V [MeSH Supplementary Concept]

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