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“Iridogoniodysgenesis”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=H21.539

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Here I present: “Iridogoniodysgenesis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (IRID1) icd10=H21.539

INTRODUCTION.

Iridogoniodysgenesis (IRID1) refers to a spectrum of diseases characterized by malformations of the irido-cornealangle of the anterior chamber of the eye. Iridogoniodysgenesis (IRID1) 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).

 

Iridogoniodysgenesis (IRD1) is  a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of Iridogoniodysgenesis (IRID1) include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.  

 

There is evidence that iridogoniodysgenesis (IRID1) is caused by heterozygous mutation in the FOXC1 gene on cytogenetic location 6p25.3 and genomic coordinates 6:1,609,915-1,613,897. The screenshot of the FOXC1 gene 3,983 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FOXC1 in the 6p25.3 cytogenetic location are listed BENEATH.

 

 



 

Coordinate  Symbol  Genomic Name
6:655,939  HUS1B HUS1 checkpoint clamp component B
6:1,312,098  FOXQ1 Forkhead box Q1
6:1,389,576  FOXF2 Forkhead box F2
6:1,605,531  FOXCUT FOXC1 upstream transcript, noncoding
6:1,609,915  FOXC1 Forkhead, Drosophila, homolog-like 7
6:1,623,806  GMDS GDP-mannose 4,6-dehydratase
6:2,765,393  WRNIP1 Werner helicase-interacting protein 1
6:2,832,332  ELANH2 Protease inhibitor 2 (anti-elastase), monocyte/neutrophil
6:2,887,270  PI9 Protease inhibitor 9, ovalbumin type
6:2,948,159  SERPINB6 Protease inhibitor 6 (placental thrombin inhibitor)

 

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