Osteogenesis imperfecta

General Information (adopted from Orphanet):

Synonyms, Signs: OI
Porak and Durante disease
Lobstein disease
Osteopsathyrosis
Brittle bone disease
Glass bone disease
Number of Symptoms 51
OrphanetNr: 666
OMIM Id: 166200
166210
166220
166230
259420
259440
610682
610915
610967
610968
613848
613849
613982
614856
615066
615220
ICD-10: Q78.0
UMLs: C0029434
MeSH: D010013
MedDRA: 10031243
Snomed: 78314001

Prevalence, inheritance and age of onset:

Prevalence: 7 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
2
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
3
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
4
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
5
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
6
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
7
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
8
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
9
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
10
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
11
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
12
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
13
 (HPO:0010299) Abnormality of dentin Very frequent [Orphanet] 9 / 7739
14
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
15
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
16
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
17
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
18
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
19
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
20
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
21
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
22
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
23
 (HPO:0002983) Micromelia Occasional [Orphanet] 130 / 7739
24
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
25
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
26
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
27
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
28
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
29
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
30
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
31
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
32
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
33
 (HPO:0002823) Abnormality of the femur Frequent [Orphanet] 61 / 7739
34
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
35
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
36
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
37
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
38
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
39
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
40
 (HPO:0003100) Slender long bone Frequent [Orphanet] 45 / 7739
41
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
42
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
43
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
44
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
45
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
46
 (HPO:0100761) Visceral angiomatosis Occasional [Orphanet] 21 / 7739
47
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
48
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
49
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
50
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
51
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: