OSTEOGENESIS IMPERFECTA, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE OSTEOPENIC NONFRACTURE SYNDROME, INCLUDED
OI, TYPE I
OSTEOGENESIS IMPERFECTA TARDA
OI1
Number of Symptoms 17
OrphanetNr:
OMIM Id: 166200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002645) Wormian bones 65 / 7739
2
(HPO:0000703) Dentinogenesis imperfecta 18 / 7739
3
(HPO:0000592) Blue sclerae 85 / 7739
4
(HPO:0000362) Otosclerosis 10 / 7739
5
(HPO:0002757) Recurrent fractures 47 / 7739
6
(HPO:0003321) Biconcave flattened vertebrae 5 / 7739
7
(HPO:0000978) Bruising susceptibility 123 / 7739
8
(HPO:0000963) Thin skin 96 / 7739
9
(HPO:0001634) Mitral valve prolapse 69 / 7739
10
(OMIM) Occasional femoral bowing 1 / 7739
11
(OMIM) Opalescent teeth 4 / 7739
12
(OMIM) Mild osteopenia 3 / 7739
13
(OMIM) Height often shorter than unaffected family members 1 / 7739
14
(OMIM) Normal teeth 15 / 7739
15
(OMIM) Hearing loss, progressive conductive and/or sensorineural, during adulthood 1 / 7739
16
(OMIM) Mild joint hypermobility 1 / 7739
17
(OMIM) Normal to near normal stature 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to ...
Clinical Description OMIM Osteogenesis imperfecta (see Byers, 1993) is characterized chiefly by multiple bone fractures, usually resulting from minimal trauma. Affected individuals have blue sclerae, normal teeth, and normal or near-normal stature (for growth curves, see Vetter et al., 1992). Fractures ...
Molecular genetics OMIM Byers (1993) summarized that 'functional null' alleles are the most common genetic features of OI type I. The mechanism by which the synthesis of pro-alpha-1(I) chains is decreased remains a difficult problem to solve. A variety of mutations, ...
Population genetics OMIM In the county of Fyn, where approximately 9% of the Danish population lives, Andersen and Hauge (1989) identified 48 patients with osteogenesis imperfecta, of whom 17 were born between January 1, 1970 and December 31, 1983. Of the ...