OSTEOGENESIS IMPERFECTA, TYPE V

General Information (adopted from Orphanet):

Synonyms, Signs: OI, TYPE V
OI5
Number of Symptoms 21
OrphanetNr:
OMIM Id: 610967
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:0008422) Vertebral wedging 7 / 7739
3
(HPO:0000926) Platyspondyly 150 / 7739
4
(HPO:0006394) Limited pronation/supination of forearm 4 / 7739
5
(HPO:0005084) Anterior radial head dislocation 2 / 7739
6
(HPO:0000938) Osteopenia 138 / 7739
7
(HPO:0002757) Recurrent fractures 47 / 7739
8
(HPO:0004586) Biconcave vertebral bodies 15 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(OMIM) Moderate to severe bone fragility 2 / 7739
11
(OMIM) Elevated serum alkaline phosphatase during hyperplastic callus formation 1 / 7739
12
(OMIM) Normal sclerae 4 / 7739
13
(OMIM) Hyperplastic callus 1 / 7739
14
(OMIM) Calcified interosseous membrane (forearms) 1 / 7739
15
(OMIM) Increased urinary collagen type I N-telopeptide excretion (NTx) during hyperplastic callus formation 1 / 7739
16
(OMIM) Normal teeth 15 / 7739
17
(OMIM) Moderately deforming osteogenesis imperfecta 2 / 7739
18
(OMIM) Birth length normal 15 / 7739
19
(OMIM) Metaphyseal bands adjacent to growth plate (distal femora, proximal tibiae, distal radii) 1 / 7739
20
(OMIM) Birth weight normal 14 / 7739
21
(OMIM) Irregular, meshlike matrix lamellae in the histology of the iliac crest 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta 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: OI ...
Clinical Description OMIM Type V OI is moderately deforming and patients exhibit moderate to severe bone fragility of long bones and vertebral bodies. All type V patients (4 males and 3 females) described by Glorieux et al. (2000) had experienced fractures ...
Molecular genetics OMIM Cho et al. (2012) studied 19 Korean individuals with OI type V, including 13 affected individuals from 3 families and 6 simplex individuals. Cho et al. (2012) performed whole-exome sequencing in an affected simplex individual and 3 unaffected ...