Brachydactyly type A2

Also Known As:

Brachydactyly, Type A2; Brachymesophalangy 2; Brachymesophalangy Ii; Mohr-Wriedt type brachydactyly

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Brachydactyly: 129
      - Brachydactyly type A2: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Brachydactyly: 129
        Brachydactyly type A2: 7

Related Diseases

1.	Brachydactyly type C

Experts

1.	Mundlos, Stefan: 6 articles (04/2009 - 10/2003)
2.	Seemann, Petra: 5 articles (04/2009 - 10/2003)
3.	Lehmann, Katarina: 4 articles (05/2008 - 10/2003)
4.	Knaus, Petra: 4 articles (12/2006 - 10/2003)
5.	Kjaer, Klaus W: 3 articles (04/2009 - 09/2005)
6.	Pohl, Jens: 3 articles (05/2008 - 12/2004)
7.	Stricker, Sigmar: 3 articles (09/2005 - 10/2003)
8.	Nürnberg, Peter: 2 articles (04/2009 - 10/2003)
9.	Plöger, Frank: 2 articles (05/2008 - 09/2005)
10.	Sebald, Walter: 2 articles (09/2005 - 12/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brachydactyly type A2:

1.	Bone Morphogenetic Protein 2IBA 12/20/2022 - "Recently, several pedigree-based studies have shown that abnormal replication of an enhancer element regulatory region in the downstream of the bone morphogenetic protein 2 (BMP2) gene is the cause of brachydactyly type A2 (BDA2). " 12/20/2022 - "近年来数项基于遗传家系的研究表明，骨形态发生蛋白2(bone morphogenetic protein 2, BMP2)基因下游的远端增强子元件调控区域的异常重复是A2型短指(趾)症(brachydactyly type A2, BDA2)的致病原因，但是这段调控区域的确切分子功能尚不明确，甚至出现有相互矛盾的结果。本研究在生物信息学分析的基础上，通过PCR技术扩增了该调控区域的不同长度的目的片段，包括高度保守的2.1 kb核心序列和3个能够完全覆盖该2.1 kb片段的不同长度的截短体片段，进而构建基因重组载体，采用双荧光素酶报告基因检测方法对这些片段的生物学功能进行分析。结果发现，高度保守的2.1 kb片段并不具有增强子活性，而3个截短体片段均表现出强烈的增强子活性。这表明BMP2基因的表达调控模式非常复杂，对其下游的这段调控区域而言，选取不同长度的片段，其对BMP2表达调控的效果可能并不一致，这很可能是由于不同长度的片段所携带的调控元件数量或种类不同所致。此项研究初步揭示了BMP2基因调控元件的复杂性，为后续深入探究BDA2的分子致病机制提供了新的线索和方向。."
2.	LigandsIBA 09/01/2005 - "Thus, the brachydactyly type A2 phenotype (L441P) is caused by inhibition of the ligand-receptor interaction, whereas the symphalangism phenotype (R438L) is caused by a loss of receptor-binding specificity, resulting in a gain of function by the acquisition of BMP2-like properties. " 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). " 04/01/2009 - "Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). "
3.	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 09/01/2005 - "They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. " 10/14/2003 - "Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2." 04/01/2009 - "Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). "
4.	Growth Differentiation Factor 5IBA 05/01/2008 - "We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. "
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.	Transforming Growth Factor beta (TGF-beta)IBA 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). "
7.	Glutamine (L-Glutamine)FDA Link 05/01/2008 - "We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. "
8.	Factor V (Coagulation Factor V)IBA 04/01/2009 - "Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). "
9.	ElementsIBA 04/01/2009 - "Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2."
10.	Arginine (L-Arginine)FDA Link 05/01/2008 - "We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals. "