Osteogenesis imperfecta, type XIII

Preferred Label : Osteogenesis imperfecta, type XIII;

Symbol : OI13;

CISMeF acronym : OI13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type XIII;

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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the bone morphogenetic protein-1 gene (BMP1, 112264.0001);

Laboratory abnormalities : Normal calcium level; Normal phosphate level; Normal to slightly high alkaline phosphatase; Low procollagen 1 C-peptide (in some patients); High deoxypyridinoline/creatinine (in some patients);

Prefixed ID : #614856;

Details

Origin ID

614856;

UMLS CUI

C3553887;

Automatic exact mappings (from CISMeF team)
- BMP1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- osteogenesis imperfecta type 13 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 13 [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein 1 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Broad forehead [HPO term]
- Decreased body weight [HPO term]
- Delayed gross motor development [HPO term]
- Dislocated radial head [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Increased bone mineral density [HPO term]
- Joint hypermobility [HPO term]
- Kyphoscoliosis [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Thin vermilion border [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Dentinogenesis imperfecta [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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