Osteogenesis imperfecta, type XV

Preferred Label : Osteogenesis imperfecta, type XV;

Symbol : OI15;

CISMeF acronym : OI15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type XV;

Description : 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 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). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 1 gene (WNT1, 164820.0001);

Prefixed ID : #615220;

Details

Origin ID

615220;

UMLS CUI

C3808844;

CISMeF manual mappings
- osteogenesis imperfecta type 15 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 15 [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowing of limbs due to multiple fractures [HPO term]
- Cerebellar hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the pons [HPO term]
- Joint hypermobility [HPO term]
- Platyspondyly [HPO term]
- Recurrent fractures [HPO term]
- Schizencephaly [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
See also inter- (CISMeF)
- WNT1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 15 [DO Concept]

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