Osteogenesis imperfecta, type XI

Preferred Label : Osteogenesis imperfecta, type XI;

Symbol : OI11;

CISMeF acronym : OI11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type XI;

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. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FK506-binding protein 10 gene (FKBP10, 607063.0001);

Laboratory abnormalities : Elevated serum alkaline phosphatase;

Prefixed ID : #610968;

Details

Origin ID

610968;

UMLS CUI

C3151218;

Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
CISMeF manual mappings
- osteogenesis imperfecta type 11 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 11 [DO Concept]
Genes related to phenotype
- Fk506-binding protein 10 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Coxa vara [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Genu varus [HPO term]
- Increased susceptibility to fractures [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Osteopenia [HPO term]
- Protrusio acetabuli [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Triangular face [HPO term]
- Vertebral compression fracture [HPO term]
- Vertebral wedging [HPO term]
Not associated HPO term(s)
- Bruising susceptibility [HPO term]
- Wormian bones [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)
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 11 [DO Concept]
Validated automatic mappings to NTBT
- Osteogenesis imperfecta [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients