Brachydactyly Type A1

Common Name(s)

Brachydactyly Type A1

In the classification of the brachydactylies, the analysis by {1:Bell (1951)} proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 BDA1B ({607004}) has been mapped to chromosome 5. BDA1C ({615072}) is caused by mutation in the GDF5 gene ({601146}) on chromosome 20q11. BDA1D ({616849}) is caused by mutation in the BMPR1B gene ({603248}) on chromosome 4q22.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly Type A1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brachydactyly Type A1" returned 7 free, full-text research articles on human participants. First 3 results:

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
 

Author(s): Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman

Journal: Eur. J. Hum. Genet.. 2015 Dec;23(12):1640-5.

 

Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. Human and mouse genetic perturbations in the BMP-SMAD signaling pathway have been associated with many brachymesophalangies, including BDA1, ...

Last Updated: 12 Nov 2015

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Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
 

Author(s): Gang Ma, Jiang Yu, Yue Xiao, Danny Chan, Bo Gao, Jianxin Hu, Yongxing He, Shengzhen Guo, Jian Zhou, Lingling Zhang, Linghan Gao, Wenjuan Zhang, Yan Kang, Kathryn S E Cheah, Guoyin Feng, Xizhi Guo, Yujiong Wang, Cong-zhao Zhou, Lin He

Journal: Cell Res.. 2011 Sep;21(9):1343-57.

 

Brachydactyly type A1 (BDA1), the first recorded Mendelian autosomal dominant disorder in humans, is characterized by a shortening or absence of the middle phalanges. Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, ...

Last Updated: 5 Sep 2011

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Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
 

Author(s): N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, A Renieri

Journal: J. Med. Genet.. 2003 Feb;40(2):132-5.

 

Last Updated: 4 Feb 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brachydactyly Type A1" returned 1 free, full-text review articles on human participants. First 3 results:

Answering a century old riddle: brachydactyly type A1.
 

Author(s): Bo Gao, Lin He

Journal: Cell Res.. 2004 Jun;14(3):179-87.

 

In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so ...

Last Updated: 30 Jun 2004

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Symptoms, Diagnosis, and Treatment

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