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Atelosteogenesis Type 3

Also Known As:

Aoiii; Atelosteogenesis Type Iii

Networked: 3 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Atelosteogenesis Type 3: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Atelosteogenesis Type 3: 3

Related Diseases

1.	Atelosteogenesis Type 3
2.	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
3.	Larsen Syndrome
4.	Spondylocarpotarsal synostosis
5.	type 1 Atelosteogenesis

Experts

1.	Bacino, Carlos A: 2 articles (07/2006 - 04/2004)
2.	Cohn, Daniel H: 2 articles (07/2006 - 04/2004)
3.	Cormier-Daire, Valerie: 2 articles (07/2006 - 04/2004)
4.	Krakow, Deborah: 2 articles (07/2006 - 04/2004)
5.	Lachman, Ralph S: 2 articles (07/2006 - 04/2004)
6.	Rimoin, David L: 2 articles (07/2006 - 04/2004)
7.	Robertson, Stephen P: 2 articles (07/2006 - 04/2004)
8.	Superti-Furga, Andrea: 2 articles (07/2006 - 04/2004)
9.	Erdal, Ozan A: 1 article (11/2017)
10.	Gorgun, Baris: 1 article (11/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Atelosteogenesis Type 3:

1.	FilaminsIBA 07/01/2006 - "Previous studies have shown that heterozygosity for missense mutations that alter the CH2 domain and repeat 6 region of filamin B produce AOI and AOIII. " 07/01/2006 - "Mutations in the gene encoding filamin B (FLNB) cause a spectrum of osteochondrodysplasias, including atelosteogenesis type I (AOI) and atelosteogenesis type III (AOIII). " 11/01/2017 - "Atelosteogenesis type III is a rare autosomal dominant skeletal dysplasia caused by mutations in the synthesis of the protein filamin B (FLNB). "
2.	Proteins (Proteins, Gene)FDA Link 07/01/2006 - "These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis." 11/01/2017 - "Atelosteogenesis type III is a rare autosomal dominant skeletal dysplasia caused by mutations in the synthesis of the protein filamin B (FLNB). "
3.	Codon (Codons)IBA 04/01/2004 - "We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). "