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Osteogenesis imperfecta type 3
8 OMIM references -
10 associated genes
165 connected diseases
No signs/symptoms info
Disease Type of connection
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Caffey disease
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Idiopathic juvenile osteoporosis
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Myxofibrosarcoma
Familial pancreatic carcinoma
Fetal and neonatal alloimmune thrombocytopenia
Chuvash erythrocytosis
Von Hippel-Lindau disease
Giant cell glioblastoma
Gliosarcoma
Precursor B-cell acute lymphoblastic leukemia
Hereditary breast and ovarian cancer syndrome
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Congenital stromal corneal dystrophy
Myxoid / round cell liposarcoma
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Acral dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Congenital glaucoma
Dedifferentiated liposarcoma
Juvenile glaucoma
Papillary or follicular thyroid carcinoma
Well-differentiated liposarcoma
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Metaphyseal anadysplasia
Autosomal dominant macrothrombocytopenia
Glanzmann thrombasthenia
Ehlers-Danlos syndrome type 2
Fibronectin glomerulopathy
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Homozygous familial hypercholesterolemia
Hyperlipoproteinemia type 5
Neutral lipid storage myopathy
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Kufor-Rakeb syndrome
Leber congenital amaurosis
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Senior-Loken syndrome
Estrogen resistance syndrome
Familial partial lipodystrophy associated with PPARG mutations
Focal dermal hypoplasia
17q11 microdeletion syndrome
Angelman syndrome
Arthrogryposis-like syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive Robinow syndrome
Boomerang dysplasia
Brachydactyly type B
Bruck syndrome
CARASIL
Congenital bilateral absence of vas deferens
Constitutional mismatch repair deficiency syndrome
Cystic fibrosis
Fuchs endothelial corneal dystrophy
Hereditary chronic pancreatitis
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary nonpolyposis colon cancer
Idiopathic bronchiectasis
Joubert syndrome with renal defect
LIG4 syndrome
Male infertility with normal virilization due to meiosis defect
Mitochondrial myopathy and sideroblastic anemia
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Omenn syndrome
Osteogenesis imperfecta type 5
Porphyria due to ALA dehydratase deficiency
Posterior polymorphous corneal dystrophy
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Spinocerebellar ataxia type 10
Spondylocarpotarsal synostosis
IRIDA syndrome
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Dyssegmental dysplasia, Silverman-Handmaker type
Hypoplastic amelogenesis imperfecta
Junctional epidermolysis bullosa inversa
LOC syndrome
Schwartz-Jampel syndrome
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Early-onset autosomal dominant Alzheimer disease
Familial exudative vitreoretinopathy
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hyperostosis corticalis generalisata
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Retinopathy of prematurity
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
X-linked distal arthrogryposis multiplex congenita
Craniolenticulosutural dysplasia
Familial isolated dilated cardiomyopathy
Fatal infantile cytochrome C oxidase deficiency
Inflammatory myofibroblastic tumor
Leigh syndrome with cardiomyopathy
Rare isolated myopia
Temtamy syndrome
Williams syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked non-syndromic intellectual deficit
Myostatin-related muscle hypertrophy
Synonym(s):
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
1 MeSH reference: C536044
No signs/symptoms info available.