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Atelosteogenesis type I
1 OMIM reference -
1 associated gene
164 connected diseases
No signs/symptoms info
Disease Type of connection
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Familial isolated dilated cardiomyopathy
Fetal and neonatal alloimmune thrombocytopenia
Amyotrophic lateral sclerosis
Early-onset autosomal dominant Alzheimer disease
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Autosomal agammaglobulinemia
Familial thoracic aortic aneurysm and aortic dissection
Retinitis pigmentosa
X-linked non-syndromic intellectual deficit
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Bernard-Soulier syndrome
Von Willebrand disease, platelet type
Joubert syndrome with renal defect
Juvenile autosomal recessive medullary cystic kidney disease
Senior-Loken syndrome
Cornelia de Lange syndrome
Estrogen resistance syndrome
Fibronectin glomerulopathy
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Athyreosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Thyroid hypoplasia
16q24.3 microdeletion syndrome
17q11 microdeletion syndrome
Acrogeria
Acromicric dysplasia
Acute inflammatory demyelinating polyradiculoneuropathy
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Aicardi-Goutières syndrome
Alternating hemiplegia of childhood
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Atypical hemolytic uremic syndrome with C3 anomaly
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
Autosomal dominant macrothrombocytopenia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant secondary polycythemia
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
B-cell chronic lymphocytic leukemia
Bardet-Biedl syndrome
Bilateral striopallidodentate calcinosis
Caffey disease
Capillary malformation - arteriovenous malformation
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1E
Chilblain lupus
Chorioretinopathy, Birdshot type
Combined cervical dystonia
Combined deficiency of factor V and factor VIII
Combined immunodeficiency due to STK4 deficiency
Complement component 3 deficiency
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital factor XIII deficiency
Congenital fibrosis of extraocular muscles
Constitutional mismatch repair deficiency syndrome
Craniopharyngioma
Cystic fibrosis
Dedifferentiated liposarcoma
Dejerine-Sottas syndrome
Dermatofibrosarcoma protuberans
Desmoid tumor
Digitotalar dysmorphism
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Episodic ataxia type 6
Essential thrombocythemia
Familial abdominal aortic aneurysm
Familial cerebral saccular aneurysm
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial prostate cancer
Fibrochondrogenesis
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Geleophysic dysplasia
Glanzmann thrombasthenia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Gräsbeck-Imerslund disease
Hepatocellular carcinoma, childhood-onset
Hereditary breast and ovarian cancer syndrome
Hereditary neuropathy with liability to pressure palsies
Hereditary nonpolyposis colon cancer
High bone mass osteogenesis imperfecta
Hypoparathyroidism - deafness - renal disease
Inherited congenital spastic tetraplegia
Isolated cytochrome C oxidase deficiency
Isolated ectopia lentis
Isolated polycystic liver disease
KBG syndrome
Legius syndrome
Lethal congenital contracture syndrome type 3
Li-Fraumeni syndrome
Limited cutaneous systemic sclerosis
MELAS syndrome
Mantle cell lymphoma
Marfan syndrome type 1
Maternally-inherited Leigh syndrome
Methylmalonic acidemia with homocystinuria, type cblX
Monosomy 22q13
Muir-Torre syndrome
Multiple paragangliomas associated with polycythemia
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Myelofibrosis with myeloid metaplasia
Neonatal Marfan syndrome
Non-polyposis Turcot syndrome
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteosarcoma
Otospondylomegaepiphyseal dysplasia
Parkes Weber syndrome
Pilomatrixoma
Precursor B-cell acute lymphoblastic leukemia
Progeroid and marfanoid aspect-lipodystrophy syndrome
Roussy-Lévy syndrome
SHORT syndrome
Shprintzen-Goldberg syndrome
Sorsby's fundus dystrophy
Spinocerebellar ataxia type 18
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Stickler syndrome type 3
Stiff skin syndrome
Weill-Marchesani syndrome
Weissenbacher- Zweymuller syndrome
Well-differentiated liposarcoma
X-linked osteoporosis with fractures
Xq27.3q28 duplication syndrome
Adult-onset distal myopathy due to VCP mutation
Neuralgic amyotrophy
Spastic paraplegia - Paget disease of bone
Unverricht-Lundborg disease
Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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:
1 OMIM reference -
1 MeSH reference: C535396
Gene symbol UniProt reference OMIM reference
FLNB O75369603381
No signs/symptoms info available.