MCID: GLC075
MIFTS: 43

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Aliases & Descriptions for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

Name: Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 50 25 12
Congenital Glaucoma 52 68 25
Glaucoma, Congenital 46 48
Buphthalmos 52 68
Primary Infantile Glaucoma Type 3a 68
Glaucoma 3, Primary Congenital, a 68
 
Primary Congenital Glaucoma 3a 68
Primary Congenital Glaucoma 52
Buphthalmia 52
Buphthalmus 52
Glc3a 68
Glc3 68

Characteristics:

Orphanet epidemiological data:

52
congenital glaucoma:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-9/100000 (Hungary),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Portugal),1-9/100000 (Spain),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 231300
Orphanet52 ORPHA98976
ICD10 via Orphanet29 Q15.0
MeSH37 D006871
ICD1028 Q15.0

Summaries for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section
OMIM:50 Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an... (231300) more...

MalaCards based summary: Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset, also known as congenital glaucoma, is related to peters anomaly and primary congenital glaucoma, and has symptoms including buphthalmos, increased intraocular pressure and late onset congenital glaucoma. An important gene associated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). Affiliated tissues include eye and testes, and related mouse phenotypes are pigmentation and no phenotypic analysis.

UniProtKB/Swiss-Prot:68 Glaucoma 3, primary congenital, A: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.

Related Diseases for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1a, Primary Open Angle glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
Glaucoma 1, Open Angle, P Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, 1o Glaucoma, Primary Open Angle, Juvenile-Onset, 2

Diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1peters anomaly30.6CYP1B1, FOXC1, MYOC, PAX6
2primary congenital glaucoma12.1
3cyp1b1-related primary congenital glaucoma12.0
4ltbp2-related primary congenital glaucoma11.8
5diabetes mellitus, neonatal, with congenital hypothyroidism11.2
6glaucoma 3, primary congenital, d11.2
7bowen syndrome11.2
8glaucoma 3, primary infantile, b11.1
9glaucoma 1a, primary open angle10.4CYP1B1, MYOC
10familial hyperaldosteronism10.3CYP1B1, MYOC
11intracranial berry aneurysm10.2CYP1B1, OPTN
12multiple pterygium syndrome, x-linked10.1LTBP2, OPTN
13buphthalmos10.1
14aniridia10.0
15open-angle glaucoma10.0
16paranasal sinus lymphoma10.0MYOC, OPTN
17retinitis10.0
18myopathy of extraocular muscle10.0MYOC, OPTN
19axenfeld-rieger syndrome, type 39.9
20hydrophthalmos9.9
21neurofibromatosis9.9
22cutis marmorata telangiectatica congenita9.9
23juvenile glaucoma9.9
24muscular dystrophy-dystroglycanopathy , type a, 39.8
25corneal dystrophy, congenital stromal9.8
26fryns microphthalmia syndrome9.8
27isolated growth hormone deficiency, type ib, gh1-related9.8FOXC1, PAX6
2846 xy gonadal dysgenesis9.8MYOC, OPTN
29adrenal cortical hypofunction9.8FOXC1, PAX6
30gapo syndrome9.8
31megalocornea9.8
32cataract9.8
33hydrocephalus9.8
34weber syndrome9.8
35congenital ectropion uveae9.8
36iritis9.8CYP1B1, MYOC, OPTN
37amyotrophic lateral sclerosis 129.7CYP1B1, MYOC, OPTN
38separation anxiety disorder9.7CYP1B1, MYOC, OPTN
39systolic heart failure9.7PAX6, TYR
40megacolon9.7OPTN, PAX6
41clonorchiasis9.7FOXC1, LTBP2, OPTN
42meckel syndrome 39.7OPTN, PAX6
43combined oxidative phosphorylation deficiency9.6FOXC1, PAX6
44neuroblastoma9.6
45wolf-hirschhorn syndrome9.6
46short syndrome9.6
47frank-ter haar syndrome9.6
48oculodentodigital dysplasia9.6
49charge syndrome9.6
50rubinstein-taybi syndrome9.6

Graphical network of the top 20 diseases related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:



Diseases related to glaucoma 3a, primary open angle, congenital, juvenile, or adult onset

Symptoms for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Symptoms by clinical synopsis from OMIM:

231300

Clinical features from OMIM:

231300

HPO human phenotypes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

id Description Frequency HPO Source Accession
1 buphthalmos HP:0000557
2 increased intraocular pressure HP:0007906
3 late onset congenital glaucoma HP:0008041

Drugs & Therapeutics for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

About this section

Drugs for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BevacizumabPhase 4, Phase 1, Phase 21938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
TimololPhase 225126839-75-833624, 5478
Synonyms:
(-)-3-Morpholino-4-(3-tert-butylamino-2-hydroxypropoxy)-1,2,5-thiadiazole
(2S)-1-((1,1-dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(2S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(2S)-1-[(1,1-dimethylethyl)amino]-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-1-(1,1-(Dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(S)-1-(tert-Butylamino)-3-((4-morpholino-1,2,5-thiadiazol-3-yl)oxy)propan-2-ol
(S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-timolol
131628-37-0
194288-09-0
26839-75-8
26921-17-5 (maleate (1:1) salt)
AB00513729
AC1L1PYN
AC1Q59QM
Apo-Timol
Apo-Timop
Aquanil
BIDD:GT0073
BPBio1_001008
BRD-K08806317-050-03-6
BSPBio_000916
Betim
Betimol
Betimol (TN)
Blocadren
C07141
C13H24N4O3S
CAS-26921-17-5
CHEBI:9599
CHEMBL499
CID33624
CPD001456519
D08600
DB00373
DB08625
EINECS 248-032-6
HMS2089I11
HSDB 6533
Istalol
L-714,465
LS-122231
Lopac-T-6394
Lopac0_001189
MK-950
NCGC00016038-01
 
NCGC00016038-02
NCGC00016798-01
NCGC00016798-07
NCGC00022033-02
NCGC00022033-04
NCGC00022033-05
Novo-Timol
Nu-Timolol
Oprea1_640981
Optimol
Phoxal-timolol
Prestwick0_000948
Prestwick1_000948
Prestwick2_000948
Prestwick3_000948
Proflax
S(-)-Timolol maleate
S-(-)-3-(3-tert-Butylamino-2-hydroxypropoxy)-4-morpholino-1,2,5-thiadiazole
SAM002564238
SPBio_003075
ST072193
TIM
Temserin
Tenopt
Tim-AK
Timacar
Timacor
Timolol
Timolol (INN)
Timolol (TN)
Timolol GFS
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol anhydrous
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
3
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
4
protease inhibitors5157
Synonyms:
 
protease inhibitors
5Dexamethasone acetate20011177-87-3
6
Dexamethasone200150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
7glucocorticoids4756

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1Use of Bevacizumab in Trabeculectomy SurgeryCompletedNCT01166594Phase 4
2Aphakia Versus Pseudophakia in Children Under 2 Years Undergoing Bilateral Congenital Cataract SurgeryCompletedNCT01297153Phase 4
3Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric GlaucomaRecruitingNCT01494974Phase 4
4Eye Muscle Surgery to Treat Congenital NystagmusCompletedNCT00001866Phase 2
5Efficacy of a Timolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) - Randomized Trial Versus PlaceboRecruitingNCT02484716Phase 2
6Treatment of Hereditary Hemorrhagic Telangiectasia of the Nasal Mucosa by Intranasal Bevacizumab : Search for Effective DoseRecruitingNCT02157987Phase 1, Phase 2
7Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital GlaucomaActive, not recruitingNCT02121171Phase 1
8Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital GlaucomaNot yet recruitingNCT01460017Phase 1
9Endoscopic Goniotomy for Infantile GlaucomaCompletedNCT00338533
10Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
11mRNA Expression in Lymphocytes of Glaucoma PatientsCompletedNCT00327509
12Mechanism of Aphakic and Pseudophakic Glaucoma in Pediatric PatientsCompletedNCT01136473
13Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
14Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With MicrophthalmosCompletedNCT01818037
15Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
16Effect of the Timing of Cataract Surgery on Complications in Patients With Bilateral Congenital CataractsCompletedNCT02581046
17Clinical Trial : Complications of in the Bag IOL Versus Optic Capture of IOL in Pediatric Cataract SurgeryCompletedNCT02491918
18Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)CompletedNCT00610402
19Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
20Genetic Testing in Primary Congenital Glaucoma PatientsRecruitingNCT01136460
21The Genetic Characteristics in South Korean Patients With Primary Congenital GlaucomaRecruitingNCT01020721
22Aqueous Humor Dynamics and Biometric Parameters in Eyes of ChildrenRecruitingNCT01290588
23A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
24OCT-guided LALAK in ChildrenRecruitingNCT01579643
25Study of an Intervention to Improve Problem List Accuracy and UseActive, not recruitingNCT01105923
26Repository for Inherited Eye DiseasesSuspendedNCT00378742

Search NIH Clinical Center for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset

Genetic Tests for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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Genetic tests related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

id Genetic test Affiliating Genes
1 Glaucoma, Congenital25
2 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset25

Anatomical Context for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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MalaCards organs/tissues related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

34
Eye, Testes

Animal Models for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult... or affiliated genes

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MGI Mouse Phenotypes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8FOXC1, PAX6, TYR
2MP:00030128.4LTBP2, MYOC, OPTN, TYR
3MP:00053917.4CYP1B1, FOXC1, LTBP2, MYOC, PAX6, TYR

Publications for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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Variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

68 (show all 33)
id Symbol AA change Variation ID SNP ID
1CYP1B1p.Gly61GluVAR_001244rs28936700
2CYP1B1p.Gly365TrpVAR_001245rs55771538
3CYP1B1p.Asp374AsnVAR_001246rs28936413
4CYP1B1p.Arg469TrpVAR_001247rs28936701
5CYP1B1p.Glu387LysVAR_008352rs55989760
6CYP1B1p.Arg390HisVAR_008353rs56010818
7CYP1B1p.Pro437LeuVAR_008354rs56175199
8CYP1B1p.Arg368HisVAR_016034rs79204362
9CYP1B1p.Leu77ProVAR_054229
10CYP1B1p.Ala115ProVAR_054230rs764338357
11CYP1B1p.Met132ArgVAR_054231
12CYP1B1p.Gln144ProVAR_054233
13CYP1B1p.Gln144ArgVAR_054234rs753847648
14CYP1B1p.Asp192ValVAR_054238
15CYP1B1p.Pro193LeuVAR_054239rs529769268
16CYP1B1p.Val198IleVAR_054240rs59472972
17CYP1B1p.Asn203SerVAR_054241
18CYP1B1p.Ser215IleVAR_054242rs72549384
19CYP1B1p.Glu229LysVAR_054243rs57865060
20CYP1B1p.Gly232ArgVAR_054244rs104893628
21CYP1B1p.Ser239ArgVAR_054245
22CYP1B1p.Val320LeuVAR_054247rs72549382
23CYP1B1p.Val364MetVAR_054253rs72549379
24CYP1B1p.Ala388ThrVAR_054254
25CYP1B1p.Arg390CysVAR_054255rs148542782
26CYP1B1p.Arg390SerVAR_054256rs148542782
27CYP1B1p.Ile399SerVAR_054257
28CYP1B1p.Asn423TyrVAR_054260rs104893629
29CYP1B1p.Arg444GlnVAR_054261
30CYP1B1p.Phe445CysVAR_054262
31CYP1B1p.Gly466AspVAR_054263
32CYP1B1p.Glu499GlyVAR_054264
33MYOCp.Gln48HisVAR_054272rs74315339

Clinvar genetic disease variations for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.5376delC (p.Cys1793Alafs)deletionPathogenicrs137854895GRCh37Chr 14, 74967677: 74967677
2CYP1B1CYP1B1, PHE261LEUsingle nucleotide variantPathogenic
3CYP1B1CYP1B1, 13-BP DEL, NT1410deletionPathogenic
4CYP1B1CYP1B1, 1-BP INS, 1209CinsertionPathogenic
5CYP1B1NM_000104.3(CYP1B1): c.182G> A (p.Gly61Glu)single nucleotide variantPathogenicrs28936700GRCh37Chr 2, 38302350: 38302350
6CYP1B1CYP1B1, 10-BP DUP, NT1546duplicationPathogenic
7CYP1B1NM_000104.3(CYP1B1): c.1093G> T (p.Gly365Trp)single nucleotide variantPathogenicrs55771538GRCh37Chr 2, 38298404: 38298404
8CYP1B1NM_000104.3(CYP1B1): c.1405C> T (p.Arg469Trp)single nucleotide variantPathogenicrs28936701GRCh37Chr 2, 38298092: 38298092
9CYP1B1NM_000104.3(CYP1B1): c.1120G> A (p.Asp374Asn)single nucleotide variantPathogenicrs104893622GRCh37Chr 2, 38298377: 38298377
10CYP1B1NM_000104.3(CYP1B1): c.1159G> A (p.Glu387Lys)single nucleotide variantPathogenicrs55989760GRCh37Chr 2, 38298338: 38298338
11CYP1B1NM_000104.3(CYP1B1): c.171G> A (p.Trp57Ter)single nucleotide variantPathogenicrs72549387GRCh37Chr 2, 38302361: 38302361
12CYP1B1CYP1B1, 1-BP DEL, 4339GdeletionPathogenic
13CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394
14CYP1B1NM_000104.3(CYP1B1): c.694G> C (p.Gly232Arg)single nucleotide variantPathogenicrs104893628GRCh37Chr 2, 38301838: 38301838
15CYP1B1CYP1B1, 1-BP DEL, 3979AdeletionPathogenic
16CYP1B1NM_000104.3(CYP1B1): c.1267A> T (p.Asn423Tyr)single nucleotide variantPathogenicrs104893629GRCh37Chr 2, 38298230: 38298230

Expression for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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Search GEO for disease gene expression data for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset.

Pathways for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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GO Terms for genes affiliated with Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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Biological processes related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:00328089.7FOXC1, PAX6
2eye developmentGO:00016549.4FOXC1, PAX6
3camera-type eye developmentGO:00430109.4FOXC1, PAX6
4collagen fibril organizationGO:00301999.3CYP1B1, FOXC1
5blood vessel developmentGO:00015689.1FOXC1, PAX6
6visual perceptionGO:00076018.8CYP1B1, PAX6, TYR

Molecular functions related to Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1monooxygenase activityGO:00044979.5CYP1B1, TYR
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.1FOXC1, PAX6

Sources for Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet