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Osteogenesis imperfecta type 2
4 OMIM references -
5 associated genes
112 connected diseases
No signs/symptoms info
Disease Type of connection
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Dermatofibrosarcoma protuberans
Caffey disease
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, vascular-like type
Fetal and neonatal alloimmune thrombocytopenia
Chuvash erythrocytosis
Von Hippel-Lindau disease
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Congenital stromal corneal dystrophy
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
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Hereditary breast and ovarian cancer syndrome
Papillary or follicular thyroid carcinoma
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
Metaphyseal anadysplasia
Autosomal dominant macrothrombocytopenia
Glanzmann thrombasthenia
Fibronectin glomerulopathy
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Homozygous familial hypercholesterolemia
Acral dystrophic epidermolysis bullosa
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
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
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
Burkitt lymphoma
Kufor-Rakeb syndrome
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Precursor T-cell acute lymphoblastic leukemia
17q11 microdeletion syndrome
Angelman syndrome
Arthrogryposis-like syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal dominant Larsen syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Boomerang dysplasia
Bruck syndrome
CARASIL
Congenital bilateral absence of vas deferens
Congenital glaucoma
Cystic fibrosis
Dedifferentiated liposarcoma
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary chronic pancreatitis
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary site-specific ovarian cancer syndrome
Idiopathic bronchiectasis
Juvenile glaucoma
LIG4 syndrome
Male infertility with normal virilization due to meiosis defect
Mitochondrial myopathy and sideroblastic anemia
Myxoid / round cell liposarcoma
Omenn syndrome
Osteogenesis imperfecta type 5
Porphyria due to ALA dehydratase deficiency
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Spondylocarpotarsal synostosis
Well-differentiated liposarcoma
IRIDA syndrome
Early-onset autosomal dominant Alzheimer disease
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
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Fatal infantile cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Rare isolated myopia
Temtamy syndrome
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked non-syndromic intellectual deficit
Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.