World Library  
Flag as Inappropriate
Email this Article

Iridogoniodysgenesis, dominant type

Article Id: WHEBN0018880641
Reproduction Date:

Title: Iridogoniodysgenesis, dominant type  
Author: World Heritage Encyclopedia
Language: English
Subject: Atrichia with papular lesions, PITX2, Tooth and nail syndrome, Limb–mammary syndrome, Enlarged vestibular aqueduct
Collection:
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Iridogoniodysgenesis, dominant type

Iridogoniodysgenesis, dominant type
Classification and external resources
OMIM 601631
DiseasesDB 34611

Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells. These cells lead to formation of most of the anterior segment structures of the eye (corneal stroma & endothelium, iris stroma, trabeculum). [1]

Symptoms: iris hypoplasis, goniodysgenesis, and juvenile glaucoma. Glaucoma phenotype that maps to 6p25 results from mutations in the forkhead transcription factor gene FOXC1

Transmission: autosomal dominant pattern with complete penetrance and variable expressivity.

First reported by Berg (1932). [2]

Treatment: of glaucoma in iridogoniodysgenesis is primarily surgical.

It is listed as a "rare disease" by the Office of Rare Diseases (ORD).[3] This means that Iridogoniodysgenesis, dominant type, or a subtype of Iridogoniodysgenesis, dominant type, affects less than 200,000 people in the US population.

References

  1. ^ Dureau P.Iridogoniodysgenesis dominant type. Orphanet Encyclopedia. March 2004
  2. ^ Berg F (1932). "Erbliches jugendliches Glaukom". Acta Ophthal. 10: 568–87.  
  3. ^ Iridogoniodysgenesis, dominant type at NIH's Office of Rare Diseases

External links

  • Entrez Gene
This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.