HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

Brachydactyly type C

Also Known As:

Brachydactyly Haws type; Brachydactyly, Haws Type; Brachydactyly, Type C

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Brachydactyly: 129
      - Brachydactyly type C: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Brachydactyly: 129
        Brachydactyly type C: 8

Related Diseases

1.	Brachydactyly type A2
2.	Grebe type Chondrodysplasia

Experts

1.	Mundlos, Stefan: 3 articles (09/2014 - 12/2004)
2.	Farooq, Muhammad: 2 articles (07/2021 - 11/2013)
3.	Seemann, Petra: 2 articles (09/2014 - 12/2006)
4.	Knaus, Petra: 2 articles (12/2006 - 12/2004)
5.	Al-Qattan, Mohammad M: 1 article (01/2022)
6.	Abdullah, Uzma: 1 article (07/2021)
7.	Ali, Zafar: 1 article (07/2021)
8.	Baig, Shahid M: 1 article (07/2021)
9.	Chopra, Anuja Arora: 1 article (07/2021)
10.	Faryal, Sanam: 1 article (07/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brachydactyly type C:

1.	Growth Differentiation Factor 5IBA 03/01/2003 - "Homozygous CDMP-1 mutations cause Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia and DuPan syndrome in humans, as well as brachypodism in mice, while heterozygous mutations cause brachydactyly type C (BDC). " 07/01/2021 - "Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC), Hunter-Thompson syndrome, Du Pan Syndrome and Brachydactyly type C (BDC). "
2.	Transforming Growth Factor beta (TGF-beta)IBA 11/01/2013 - "Lack of secretion of a TGF-beta family member GDF5 is known to underlie some skeletal abnormalities, such as brachydactyly type C that is characterized by a huge and unexplained phenotypic variability. " 12/01/2004 - "Mutations in GDF5, a member of the BMP/TGF-beta ligand family, cause brachydactyly type C (BDC) whereas mutations in the receptor for GDF5, BRI-b, cause brachydactyly type A2 (BDA2). "
3.	LigandsIBA 12/01/2006 - "Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC). " 12/01/2004 - "Mutations in GDF5, a member of the BMP/TGF-beta ligand family, cause brachydactyly type C (BDC) whereas mutations in the receptor for GDF5, BRI-b, cause brachydactyly type A2 (BDA2). "
4.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2018 - "[Brachydactyly type C due to a nonsense mutation in the GDF5 gene]."
5.	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 12/01/2006 - "Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC). "
6.	Proteins (Proteins, Gene)FDA Link 09/23/2014 - "Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C."

Therapies and Procedures

1.	Osteotomy 01/01/2022 - "Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C."