OSTEOGENESIS IMPERFECTA, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE
OI, TYPE III
OI3
Number of Symptoms 26
OrphanetNr:
OMIM Id: 259420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002007) Frontal bossing 366 / 7739
2
(HPO:0005758) Basilar impression 6 / 7739
3
(HPO:0000347) Micrognathia 426 / 7739
4
(HPO:0000325) Triangular face 91 / 7739
5
(HPO:0002645) Wormian bones 65 / 7739
6
(HPO:0000260) Wide anterior fontanel 55 / 7739
7
(HPO:0000703) Dentinogenesis imperfecta 18 / 7739
8
(HPO:0005474) Decreased calvarial ossification 8 / 7739
9
(HPO:0000365) Hearing impairment 539 / 7739
10
(HPO:0002650) Scoliosis 705 / 7739
11
(HPO:0005897) Severe generalized osteoporosis 4 / 7739
12
(HPO:0003179) Protrusio acetabuli 37 / 7739
13
(HPO:0004586) Biconcave vertebral bodies 15 / 7739
14
(HPO:0005855) Multiple prenatal fractures 10 / 7739
15
(HPO:0002982) Tibial bowing 36 / 7739
16
(HPO:0003023) Bowing of limbs due to multiple fractures 6 / 7739
17
(HPO:0002808) Kyphosis 289 / 7739
18
(HPO:0003100) Slender long bone 45 / 7739
19
(HPO:0008921) Neonatal short-limb short stature 12 / 7739
20
(HPO:0002092) Pulmonary hypertension 109 / 7739
21
(OMIM) Evidence of in utero fracture 1 / 7739
22
(OMIM) Blue sclerae at birth becoming normal with age 1 / 7739
23
(OMIM) Adult height 92-108 cm 1 / 7739
24
(OMIM) Short deformed femurs 1 / 7739
25
(OMIM) Long bone deformity evident at birth or in the first 2 years of life 1 / 7739
26
(OMIM) Thin gracile ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Victoria, Australia, Sillence et al. (1979) found type III OI to be about one-eighth as frequent as dominantly inherited OI with blue sclerae. Scleral hue, which may be bluish at birth, usually normalizes with age. Patients reported ...
Genotype-Phenotype Correlations OMIM Faqeih et al. (2009) reported 3 unrelated patients with OI type III, brachydactyly, and intracranial hemorrhage, 1 of whom was previously described by Cole and Lam (1996), who all had glycine mutations involving exon 49, in the most ...
Molecular genetics OMIM Starman et al. (1989) reported a family in which the OI III phenotype was caused by a dominant mutation in the COL1A1 gene that resulted in substitution of cysteine for glycine at position 526 of the triple helix ...
Population genetics OMIM Beighton and Versfeld (1985) suggested that type III OI is relatively high in the black population of South Africa. The high frequency did not seem to be limited to one tribe. Whereas in Australian whites the ratio of ...