Osteogenesis imperfecta, type iv

Preferred Label : Osteogenesis imperfecta, type iv;

Symbol : OI4;

CISMeF acronym : OI4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta with normal sclerae; Oi, type iv;

Description : Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes: 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 sclera (259420); and OI type IV, with normal sclerae. Levin et al. (1978) suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0003); Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0004);

Prefixed ID : #166220;

Details

Origin ID

166220;

UMLS CUI

C0268363;

Automatic exact mappings (from CISMeF team)
- collagen type I alpha 1 chain [ORDO Gene]
- collagen type I alpha 1 chain [HGNC gene]
- symbol withdrawn OI4 [HGNC gene]
Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis Imperfecta Type IV [NCIt concept]
- Osteogenesis Imperfecta, Type IV [MeSH Supplementary Concept]
- Osteogenesis imperfecta type 4 [ICD-11 More detail]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type IV (disorder) [SNOMED CT concept]
- osteogenesis imperfecta type 4 [DO Concept]
- osteogenesis imperfecta type IV [Disease (Nov.)]
- osteogenesis imperfecta with normal sclerae, dominant form [SNOMED Notion]
DO Cross reference
- osteogenesis imperfecta type 4 [DO Concept]
False automatic mappings
- Collagen Alpha-1(I) Chain [NCIt concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Biconcave flattened vertebrae [HPO term]
- Blue sclerae [HPO term]
- Bowing of limbs due to multiple fractures [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Femoral bowing present at birth, straightening with time [HPO term]
- Hearing impairment [HPO term]
- Increased susceptibility to fractures [HPO term]
- Kyphosis [HPO term]
- Otosclerosis [HPO term]
- Recurrent fractures [HPO term]
- Reduced bone mineral density [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type IV [NCIt concept]
- Osteogenesis Imperfecta, Type IV [MeSH Supplementary Concept]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type IV (disorder) [SNOMED CT concept]
- osteogenesis imperfecta type 4 [DO Concept]
- osteogenesis imperfecta type IV [Disease (Nov.)]
- osteogenesis imperfecta with normal sclerae, dominant form [SNOMED Notion]
Validated automatic mappings to BTNT
- Osteogenesis imperfecta, type IV A (disorder) [SNOMED CT concept]

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