Disease #02992 (OI-8 (osteogenesis imperfecta type VIII (OI-8)), OMIM:610915)

Official abbreviation OI-8
Name osteogenesis imperfecta type VIII (OI-8)
OMIM ID 610915
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene P3H1
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080910 - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - OI-8 Osteogenesis imperfecta, type VIII (OMIM:610915) P3H1 P3H1 1 1 Daniel Trujillano
00320495 - PubMed: Fuccio et al., 2011 This patient is reported to harbour two COL1A1 variants, either of which would be expected to result alone in producing the OI phenotype. The c.77G>A variant is previously reported as causing OI I and the frequent c.2461G>A variant causes predominantly OI types III and IV. The possible parental origin of these variants is not reported and the matter of the patient having two disease-causing variants is not discussed by the authors.Although the OI type is not recorded in the publication, the authors have provided this information subsequently. - - - - - 0 - - OI, OI-8 - COL1A1 COL1A1 2 1 Raymond Dalgleish
Legend   How to query