OSTEOGENESIS IMPERFECTA, TYPE XV

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE XV
OI15
Number of Symptoms 29
OrphanetNr:
OMIM Id: 615220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000592) Blue sclerae 85 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0002650) Scoliosis 705 / 7739
4
(HPO:0000883) Thin ribs 31 / 7739
5
(HPO:0000926) Platyspondyly 150 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Shortening of upper extremities 1 / 7739
9
(OMIM) Marked bilateral angulation of the proximal femur 1 / 7739
10
(OMIM) Vertebral fractures 2 / 7739
11
(OMIM) Small anterior commissure 1 / 7739
12
(OMIM) Closed-lip schizencephaly 1 / 7739
13
(OMIM) Low bone density 2 / 7739
14
(OMIM) Type 1 Chiari malformation 1 / 7739
15
(OMIM) Hypoplasia of the optic chiasm 2 / 7739
16
(HPO:0012110) Hypoplasia of the pons 16 / 7739
17
(OMIM) Unilateral cerebellar hypoplasia 1 / 7739
18
(OMIM) Multiple fractures of extremities 1 / 7739
19
(OMIM) Hypoplasia of the hypothalamus 1 / 7739
20
(OMIM) Congenital absence of the vermis 1 / 7739
21
(OMIM) Pontine hypoplasia 8 / 7739
22
(OMIM) Shortening of lower extremities 1 / 7739
23
(MedDRA:10048409) Brain malformation 2 / 7739
24
(OMIM) Bowing of lower extremities 2 / 7739
25
(OMIM) Hypoplasia of the mesencephalic tectum 1 / 7739
26
(OMIM) Bowing of upper extremities 1 / 7739
27
(OMIM) Hypermobility of joints 1 / 7739
28
(OMIM) Diminished calvarial mineralization 1 / 7739
29
(OMIM) Lack of bone modeling 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: ...
Clinical Description OMIM Keupp et al. (2013) described 3 individuals from 2 different branches of a consanguineous Turkish family who had typical clinical features of OI, including early-onset recurrent fractures, bone deformity, significant reduction of bone density, and short stature. Two ...
Molecular genetics OMIM By whole-exome sequencing and homozygosity mapping in affected members of a consanguineous Turkish family segregating OI, Keupp et al. (2013) identified a homozygous 1-bp duplication (c.859dupC; 164820.0001) in the WNT1 gene. Keupp et al. (2013) sequenced the entire ...