Osteogenesis imperfecta, type XII

Preferred Label : Osteogenesis imperfecta, type XII;

Symbol : OI12;

CISMeF acronym : OI12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type XII;

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 XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae (summary by Lapunzina et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transcription factor Sp7 gene gene (SP7, 606633.0001);

Prefixed ID : #613849;

Details

Origin ID

613849;

UMLS CUI

C3151433;

Currated CISMeF NLP mapping
- osteogenesis imperfecta type 12 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 12 [DO Concept]
Genes related to phenotype
- Transcription factor sp7 [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachyturricephaly [HPO term]
- Delayed eruption of teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Facial asymmetry [HPO term]
- Generalized osteoporosis [HPO term]
- High palate [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Narrow mouth [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Progressive hearing impairment [HPO term]
- Prominent forehead [HPO term]
- Prominent supraorbital ridges [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Abnormal sclera morphology [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Hearing abnormality [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [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]

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