Osteogenesis imperfecta, type VI

Preferred Label : Osteogenesis imperfecta, type VI;

Symbol : OI6;

CISMeF acronym : OI6;

Type : Phenotype, molecular basis known;

Description : Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade F, member 1 gene (SERPINF1, 172860.0001);

Laboratory abnormalities : Elevated alkaline phosphatase; Moderately increased deoxypyridinoline; Elevated procollagen-1-C-peptide;

Prefixed ID : #613982;

Details

Origin ID

613982;

UMLS CUI

C3279564;

Currated CISMeF NLP mapping
- Osteogenesis imperfecta, type 6 [MeSH concept]
- osteogenesis imperfecta type 6 [DO Concept]
- osteogenesis imperfecta type VI [Disease (Nov.)]
- osteogenesis imperfecta, type 6 [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 6 [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade f, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Biconcave vertebral bodies [HPO term]
- Coxa vara [HPO term]
- Increased susceptibility to fractures [HPO term]
- Joint laxity [HPO term]
- Protrusio acetabuli [HPO term]
- Vertebral compression fracture [HPO term]
Not associated HPO term(s)
- Dentinogenesis imperfecta [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)
- SERPINF1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 6 [DO Concept]
- osteogenesis imperfecta type VI [Disease (Nov.)]
- osteogenesis imperfecta, type 6 [MeSH Supplementary Concept]

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