Entry - %613085 - GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C - OMIM

 
ICD+
% 613085

GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C


Cytogenetic location: 14q24.3   Genomic coordinates (GRCh38) : 14:73,300,001-78,800,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q24.3 Glaucoma 3, primary congenital, C 613085 2

▼ TEXT

For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).

▼ Mapping

In a 5-generation consanguineous Turkish family with PCG unlinked to both congenital glaucoma loci GLC3A and GLC3B (600975), Stoilov and Sarfarazi (2002) used genomewide screening, saturation mapping, and haplotype analysis including markers D14S61 and D14S1000 to identify a region of homozygosity defined by markers D14S42, D14S983, D14S1020 and D14S74 in all affected individuals. All markers segregated perfectly with the disease phenotype. The data suggested that a PCG locus (GLC3C) is located on chromosome 14q24.3 within a region of 2.9 cM that is flanked by markers D14S61 and D14S1000.

▼ REFERENCES

  1. Stoilov, I. R., Sarfarazi, M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. (Abstract) Invest. Ophthal. Vis. Sci. 43: e3015, 2002. Note: Electronic Article.


Creation Date:
Ada Hamosh : 10/14/2009
Edit History:
alopez : 10/14/2009
alopez : 10/14/2009
alopez : 10/14/2009

% 613085

GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C


ORPHA: 98976;   DO: 0050593;  


Cytogenetic location: 14q24.3   Genomic coordinates (GRCh38) : 14:73,300,001-78,800,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
14q24.3 Glaucoma 3, primary congenital, C 613085 2

TEXT

For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).

Mapping

In a 5-generation consanguineous Turkish family with PCG unlinked to both congenital glaucoma loci GLC3A and GLC3B (600975), Stoilov and Sarfarazi (2002) used genomewide screening, saturation mapping, and haplotype analysis including markers D14S61 and D14S1000 to identify a region of homozygosity defined by markers D14S42, D14S983, D14S1020 and D14S74 in all affected individuals. All markers segregated perfectly with the disease phenotype. The data suggested that a PCG locus (GLC3C) is located on chromosome 14q24.3 within a region of 2.9 cM that is flanked by markers D14S61 and D14S1000.

REFERENCES

  1. Stoilov, I. R., Sarfarazi, M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. (Abstract) Invest. Ophthal. Vis. Sci. 43: e3015, 2002. Note: Electronic Article.


Creation Date:
Ada Hamosh : 10/14/2009

Edit History:
alopez : 10/14/2009
alopez : 10/14/2009
alopez : 10/14/2009



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025