Osteogenesis imperfecta, type VIII

Preferred Label : Osteogenesis imperfecta, type VIII;

Symbol : OI8;

CISMeF acronym : OI8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type VIII;

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). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine- and proline-enriched proteoglycan 1 gene (LEPRE1, 610339.0001);

Laboratory abnormalities : Type 1 collagen overmodification; Absent-decreased prolyl 3-hydroxylation at collagen I alpha-1 pro986;

Prefixed ID : #610915;

Details

Origin ID

610915;

UMLS CUI

C1970458;

Automatic exact mappings (from CISMeF team)
- osteogenesis imperfecta type 8 [DO Concept]
Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis imperfecta, type VIII [MeSH concept]
- osteogenesis imperfecta, type VIII [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 8 [DO Concept]
Genes related to phenotype
- Prolyl 3-hydroxylase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Decreased calvarial ossification [HPO term]
- Decreased skull ossification [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dwarfism [HPO term]
- Externally rotated/abducted legs [HPO term]
- Femoral bowing [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Multiple prenatal fractures [HPO term]
- Open sutures [HPO term]
- Osteopenia [HPO term]
- Platyspondyly [HPO term]
- Proptosis [HPO term]
- Radial bowing [HPO term]
- Recurrent fractures [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Short limb dwarfism [HPO term]
- Short metacarpal [HPO term]
- Slender long bone [HPO term]
- Thin ribs [HPO term]
- Thin, gracile long bones [HPO term]
- Tibial bowing [HPO term]
- Type 1 collagen overmodification [HPO term]
- Vertebral compression fracture [HPO term]
- Wide anterior fontanel [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
See also inter- (CISMeF)
- Osteogenesis imperfecta type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta, type VIII [MeSH concept]
- osteogenesis imperfecta, type VIII [MeSH Supplementary Concept]

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