Pseudoanodontia and Optic atrophy Alopecia Growth retardation

A congenital syndrome characterized by slow or delayed growth, frontal bossing (unusually prominent forehead), MICROGNATHISM; failed tooth eruption, optic atrophy and severe hypotrichosis. It is caused by mutations in the anthrax toxin receptor 1 (ANTXR1) gene. OMIM: 230740

Also Known As:

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Alopecia (Baldness)
2.	Optic Atrophy
3.	Anodontia (Hypodontia)
4.	Glaucoma
5.	Skin Abnormalities

Experts

1.	Besschetnova, Tatiana Y: 2 articles (01/2016 - 03/2015)
2.	Olsen, Bjorn R: 2 articles (01/2016 - 03/2015)
3.	Ahmed, Burhan: 1 article (05/2019)
4.	Gritli, Sami: 1 article (05/2019)
5.	Cakir, Hanefi: 1 article (01/2019)
6.	Esen, Fehim: 1 article (01/2019)
7.	Genc, Selim: 1 article (01/2019)
8.	Guler, Emre: 1 article (01/2019)
9.	Salkaci, Osman: 1 article (01/2019)
10.	Anjum, Nishat: 1 article (11/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pseudoanodontia and Optic atrophy Alopecia Growth retardation:

1.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/01/2016 - "Studies of a mouse model of the Growth Retardation, Alopecia, Pseudo-anodontia and Optic Atrophy (GAPO) syndrome, caused by the loss-of-function mutations in ANTXR1, as well as knock-in mice carrying the Ala-to-Thr ANTXR1 mutation, confirm that ANTXR1 functions as a suppressor of VEGF-A signalling. "
2.	Anesthetics (Anesthetic Agents)IBA 10/01/2013 - "Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery." 08/01/2011 - "Anesthetic management of a patient with GAPO syndrome for glaucoma surgery."
3.	Mitomycin (Mitomycin-C)FDA LinkGeneric 01/01/2019 - "This report describes a case of hypotony maculopathy developing in a patient with GAPO syndrome following a trabeculectomy with mitomycin C (MMC). "
4.	Testosterone (Sustanon)FDA Link 05/01/2019 - "We report on a 2-year-old Pakistani man affected with GAPO syndrome who additionally shows an androgenetic-like alopecia with normal testosterone levels and telogen hair loss. "
5.	Retinaldehyde (Retinal)IBA 04/01/2013 - "GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer."
6.	DNA (Deoxyribonucleic Acid)IBA 11/01/2017 - "Genomic DNA from the patient with the GAPO syndrome and his family members were screened for previously reported mutations at ANTXR1 by sequencing. "
7.	10-N-nonylacridinium orange (NAO)IBA 03/01/2015 - "Furthermore, the loss of MMP2 activity suggests that fibrotic skin abnormalities in GAPO syndrome are, in part, the consequence of pathophysiological mechanisms underlying syndromes (NAO, Torg and Winchester) with multicentric skin nodulosis and osteolysis caused by homozygous loss-of-function mutations in MMP2. "

Therapies and Procedures

1.

Trabeculectomy (Trabeculoplasty) 01/01/2019 - "A 42-year-old man with a diagnosis of GAPO syndrome underwent a trabeculectomy with an MMC application of 0.4 mg/mL for 1 minute. " 01/01/2019 - "Postoperative hypotony should be taken into account in patients with GAPO syndrome due to a defective fibrosis process following a trabeculectomy." 01/01/2019 - "Hypotony Maculopathy After Trabeculectomy in a Patient With GAPO Syndrome." 01/01/2019 - "This report describes a case of hypotony maculopathy developing in a patient with GAPO syndrome following a trabeculectomy with mitomycin C (MMC). "