Disease #01814

Official abbreviation GLC-3A
Name glaucoma, congenital, primary, type 3A (GLC-3A)
OMIM ID 231300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 33
Phenotype entries for this disease 33
Associated with 1 gene CYP1B1
Associated tissues -
Disease features -
Remarks -


Individuals

33 entries on 1 page. Showing entries 1 - 33.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00051837 - PubMed: Stoilov 1998 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs M no Turkey - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 2 2 Johan den Dunnen
00051838 - PubMed: Stoilov 1998 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother - no Turkey - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 1 2 Johan den Dunnen
00051839 - PubMed: Stoilov 1998 2-generation family, 2 sisters, unaffected heterozygous carrier parents F yes Turkey - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 2 2 Johan den Dunnen
00051841 - PubMed: Stoilov 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents/2 sibs M yes Canada French Canadian - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 1 1 Johan den Dunnen
00051842 - PubMed: Stoilov 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother F no United Kingdom (Great Britain) - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 2 1 Johan den Dunnen
00051843 - PubMed: Stoilov 1998 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sister F no Turkey - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 1 2 Johan den Dunnen
00051844 - PubMed: Stoilov 1998 2-generation family, 2 affecteds, unaffected heterozygous carrier parents F no United States Hispanic - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 2 2 Johan den Dunnen
00051846 - PubMed: Stoilov 1998 2-generation family, affected brother/sister, unaffected heterozygous carrier mother, father non-carrier - no United States - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 1 2 Johan den Dunnen
00051871 - PubMed: Stoilov 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother M no United States Hispanic - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 2 1 Johan den Dunnen
00051875 - PubMed: Stoilov 1998 2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents - no Turkey - - 0 - - GLC-3A early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea CYP1B1 CYP1B1 1 3 Johan den Dunnen
00081683 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 5 affecteds, individual 6 F - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 52/44, cup to disc ratio no view/no view, visual acuity no light perception/light perception, increased corneal diameter (HP:0000485), corneal edema (HP:0012040), corneal haze, spheroidal degeneration (HP:0007705) CYP1B1 CYP1B1 1 1 Johan den Dunnen
00081684 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 4 affecteds M - Pakistan - - 0 - IOP controlled through surgery and medical treatment GLC-3A increased intraocular pressure (HP:0007906) OD/OS 16/16; cup to disc ratio 0.6/0.4; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral myopic fundus CYP1B1 CYP1B1 1 4 Johan den Dunnen
00081685 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 6 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 6 Johan den Dunnen
00081686 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 2 affecteds F - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 40/32; cup to disc ratio 0.7/0.4; visual acuity light perception/hand movement; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 2 Johan den Dunnen
00081687 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 2 affecteds M - Pakistan - - 0 - IOP controlled through surgery and medical treatment GLC-3A increased intraocular pressure (HP:0007906) OD/OS 26/20; cup to disc ratio no view/no view; visual acuity hand movement/hand movement; corneal diameter lateral >14mm; bilateral corneal opacity (HP:0007957); vascularization CYP1B1 CYP1B1 1 2 Johan den Dunnen
00081688 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 5 affecteds M - Pakistan - - 0 - - GLC-3A visual acuity light perception/light perception; ; corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 5 Johan den Dunnen
00081689 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 4 affecteds F - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 44/30; cup to disc ratio 0.8/no view; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485) CYP1B1 CYP1B1 2 4 Johan den Dunnen
00081690 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 3 Johan den Dunnen
00081691 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 1 affecteds M - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 30/26; cup to disc ratio 0.8/0.6; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 1 Johan den Dunnen
00081692 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 1 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 1 Johan den Dunnen
00081693 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 2 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 2 Johan den Dunnen
00081694 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 4 affecteds M - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS ?/38; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); megalocornea (HP:0000485) CYP1B1 CYP1B1 1 4 Johan den Dunnen
00081695 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 6 affecteds F - Pakistan - - 0 - IOP controlled through surgery and medical treatment GLC-3A increased intraocular pressure (HP:0007906) OD/OS 22/20; cup to disc ratio no view/no view; visual acuity light perception/light perception; corneal diameter 13.0/14.0; bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 6 Johan den Dunnen
00081696 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 3 Johan den Dunnen
00081697 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 7 affecteds F - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 28/28; cup to disc ratio 1.0/1.0; visual acuity /36/4/12; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485) CYP1B1 CYP1B1 1 7 Johan den Dunnen
00081698 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 3 Johan den Dunnen
00081699 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds - - Pakistan - - 0 - - GLC-3A - CYP1B1 CYP1B1 1 3 Johan den Dunnen
00081700 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 4 affecteds M - Pakistan - - 0 - IOP controlled through surgery and medical treatment GLC-3A increased intraocular pressure (HP:0007906) OD/OS 19/22; cup to disc ratio 0.9/0.9; visual acuity counting fingers/counting fingers; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557) CYP1B1 CYP1B1 1 4 Johan den Dunnen
00081701 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds F - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 38/?; cup to disc ratio no view/no view; visual acuity hand movement/no light perception; increased corneal diameter (HP:0000485); right buphthalmos (HP:0000557); left phthisical eye CYP1B1 CYP1B1 2 3 Johan den Dunnen
00081702 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 5 affecteds M - Pakistan - - 0 - - GLC-3A increased intraocular pressure (HP:0007906) OD/OS 53/?; cup to disc ratio 0.7/no view; visual acuity hand 6/60/no light perception; increased corneal diameter (HP:0000485); right megalocornea (HP:0000485); right corneal haze CYP1B1 CYP1B1 1 5 Johan den Dunnen
00081703 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 4 affecteds F - Pakistan - - 0 - - GLC-3A visual acuity light perception/light perception; buphthalmos (HP:0000557); corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 4 Johan den Dunnen
00081704 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 6 affecteds F - Pakistan - - 0 - - GLC-3A visual acuity no light perception/no light perception; corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 6 Johan den Dunnen
00081705 - PubMed: Rauf 2016, Journal: Rauf 2016 family, 3 affecteds M - Pakistan - - 0 - - GLC-3A buphthalmos (HP:0000557); corneal opacity (HP:0007957) CYP1B1 CYP1B1 1 3 Johan den Dunnen
Legend