Disease #02992 (OI8 (osteogenesis imperfecta type VIII (OI8)), OMIM:610915)

Official abbreviation OI8
Name osteogenesis imperfecta type VIII (OI8)
OMIM ID 610915
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 18
Phenotype entries for this disease 17
Associated with 1 gene P3H1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-05-16 21:52:18 +02:00 (CEST)


Individuals

18 entries on 1 page. Showing entries 1 - 18.
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00080910 - PubMed: Trujillano 2017 no information from parents - - - - - - - - OI8 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. - - - - - - - - OI, OI8 - COL1A1 COL1A1 2 1 Raymond Dalgleish
00431419 patient PubMed: de Souza 2020 - F ? Italy - >28y - - - OI8 - - P3H1 1 1 Kim Worring
00431780 Pat1 PubMed: Kantaputra 2021 4 siblings with homozygotic mutation with heterozygotic parents. F yes Thailand Karen tribe family >16y - - - OI8 White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia. - P3H1 1 4 Kim Worring
00431781 Pat2 PubMed: Kantaputra 2021 - M yes Thailand Karen tribe family >13y - - - OI8 White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia. - P3H1 1 1 Kim Worring
00431782 Pat3 PubMed: Kantaputra 2021 - M yes Thailand Karen tribe family >12y - - - OI8 White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia. - P3H1 1 1 Kim Worring
00431783 Pat4 PubMed: Kantaputra 2021 - F yes Thailand Karen tribe family >05y - - - OI8 White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia. - P3H1 1 1 Kim Worring
00434899 Pat1 PubMed: Kantaputra 2023 - F ? Thailand Karen Descent >11y - - - OI8 - - P3H1 1 2 Kim Worring
00434905 Pat2 PubMed: Kantaputra 2023 - F ? Thailand Karen Descent >17y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434906 Pat3 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >13y - - - OI8 - P3H1 P3H1 1 3 Kim Worring
00434907 Pat4 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >10y - - - OI8 - - P3H1 1 1 Kim Worring
00434908 Pat5 PubMed: Kantaputra 2023 - F ? Thailand - >09y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434909 Pat7 PubMed: Kantaputra 2023 - F ? Thailand Karen Descent >08y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434934 Pat6 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >05y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434935 Pat8 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >15y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434936 Pat9 PubMed: Kantaputra 2023 - F ? Thailand Karen Descent >11y - - - OI8 - P3H1 P3H1 1 2 Kim Worring
00434937 Pat10 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >08y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
00434938 Pat11 PubMed: Kantaputra 2023 - M ? Thailand Karen Descent >13y - - - OI8 - P3H1 P3H1 1 1 Kim Worring
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