GAPO Syndrome

Common Name(s)

GAPO Syndrome, Growth Retardation Alopecia Pseudoanodontia Optic

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "GAPO Syndrome" 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 "GAPO Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
 

Author(s): Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, , Nursel H Elcioglu, M Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A Gibbs, James R Lupski

Journal: Am. J. Med. Genet. A. 2014 Sep;164A(9):2328-34.

 

GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows ...

Last Updated: 31 Dec 1969

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GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.
 

Author(s): Nishant Goyal, Hitesh Gurjar, Bhawani Shankar Sharma, Manjari Tripathi, P Sarat Chandra

Journal:

 

GAPO syndrome stands for growth retardation (G), alopecia (A), pseudoanodontia (P) and optic atrophy (O). To date, only about 35 cases of this extremely rare syndrome have been reported. Craniosynostosis/craniostenosis is a condition with an abnormal head shape due to premature fusion ...

Last Updated: 31 Dec 1969

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Mutations in ANTXR1 cause GAPO syndrome.
 

Author(s): Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y Hehir-Kwa, Deepthi de Silva, Manouri P Senanayake, Sameh Farrag, Jiří Zeman, Pavel Martásek, Alice Baxová, Hanan H Afifi, Brad St Croix, Han G Brunner, Samia Temtamy, Stanislav Kmoch

Journal: Am. J. Hum. Genet.. 2013 May;92(5):792-9.

 

The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations ...

Last Updated: 31 Dec 1969

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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 "GAPO Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Ocular manifestation in GAPO syndrome. Report of the first tunisian case].
 

Author(s): R A Touzri, S Goucha, L Kriaa, O Beltaif, B Fazaa, H El Andolsi, M R Kamoun, A Ouertani

Journal: J Fr Ophtalmol. 2003 Dec;26(10):1067-70.

 

GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alopecia, pseudoanodontia and optic atrophy. We report here the ophthalmological findings in a 12-year-old Tunisian boy suffering from typical GAPO syndrome.

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.