MCID: GLC041
MIFTS: 28

Glaucoma 1, Open Angle, a

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Glaucoma 1, Open Angle, a

MalaCards integrated aliases for Glaucoma 1, Open Angle, a:

Name: Glaucoma 1, Open Angle, a 57 53 75 73
Glc1a 57 53 75 55
Primary Open Angle Glaucoma Juvenile Onset 1 53 29 6
Joag1 57 53 75
Glaucoma 1a, Primary Open Angle 57 13
Glaucoma, Primary Open Angle, Juvenile-Onset, 1; Joag1 57
Glaucoma, Primary Open Angle, Juvenile-Onset, 1 57
Juvenile-Onset Primary Open Angle Glaucoma 1 75
Primary Open Angle Glaucoma 1a 75
Glaucoma Hereditary, Juvenile 53
Glaucoma, Open Angle, Type 1a 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
glaucoma 1, open angle, a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 137750
MedGen 42 C1842028
MeSH 44 D005902
SNOMED-CT via HPO 69 263681008 23986001 57190000
UMLS 73 C1842028

Summaries for Glaucoma 1, Open Angle, a

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98977Disease definitionJuvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.EpidemiologyIn the United States, it is estimated to occur in 1/50,000 individuals.Clinical descriptionJG typically presents between the ages of 10 to 35 years; the average age of diagnosis is around 18 years. Patients are initially asymptomatic and are often discovered incidentally on a routine examination. JG is generally bilateral; there can be a marked asymmetry between the two eyes. The intraocular pressure increases progressively leading to optic nerve excavation and eventually, substantial visual impairment and field loss.EtiologyJG is caused by impaired outflow of aqueous humor through the trabecular meshwork and into the Schlemm canal. Mutations in CYP1B1 (2p22.2) and MYOC (1q23-q24) genes have been found in patients with JG. MYOC gene codes for the glycoprotein myocilin that is found in the trabecular meshwork and ocular tissue and mutations are disease-causing.Diagnostic methodsThe diagnosis is suspected with the presence of clinical features such as increased intraocular pressure and optic nerve excavation. On gonioscopy the angle appears normal. Typical features of primary congenital glaucoma such as corneal edema and Haab's striae are not present. The refraction test reveals myopia. Typical glaucomatous field defects can be documented. Optic nerve head shows glaucomatous optic neuropathy.Differential diagnosisDifferential diagnoses include other forms of open angle glaucoma that can occur at any age, late recognized congenital glaucoma (see this term), steroid induced glaucoma, traumatic glaucoma and inflammatory glaucoma.Genetic counselingTransmission is autosomal dominant with high penetrance. Genetic testing can be used to identify family members at risk of developing JG.Management and treatmentMedical therapy (carbonic anhydrase inhibitors, beta blockers, prostaglandin analogues, adrenergic agonists) is often useful in the treatment of JG. When the condition becomes unresponsive to medications, angle surgery (goniotomy, trabeculotomy), filtration surgery (trabeculectomy), LASER treatment (angle laser surgery or cyclodiode laser therapy) and/or aqueous shunt devices can be considered.PrognosisPrognosis is good in patients diagnosed and treated early.Visit the Orphanet disease page for more resources.

MalaCards based summary : Glaucoma 1, Open Angle, a, also known as glc1a, is related to open-angle glaucoma and glaucoma, primary open angle. An important gene associated with Glaucoma 1, Open Angle, a is MYOC (Myocilin). Affiliated tissues include eye and testes, and related phenotypes are glaucoma and myopia

UniProtKB/Swiss-Prot : 75 Glaucoma 1, open angle, A: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.

Description from OMIM: 137750

Related Diseases for Glaucoma 1, Open Angle, a

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, a:



Diseases related to Glaucoma 1, Open Angle, a

Symptoms & Phenotypes for Glaucoma 1, Open Angle, a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
glaucoma, open-angle
myopia


Clinical features from OMIM:

137750

Human phenotypes related to Glaucoma 1, Open Angle, a:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 myopia 32 HP:0000545
3 abnormal iris vasculature 32 HP:0007905

Drugs & Therapeutics for Glaucoma 1, Open Angle, a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Myocilin Variations and Familial Glaucoma in Taxiarchis Unknown status NCT00788762

Search NIH Clinical Center for Glaucoma 1, Open Angle, a

Genetic Tests for Glaucoma 1, Open Angle, a

Genetic tests related to Glaucoma 1, Open Angle, a:

# Genetic test Affiliating Genes
1 Primary Open Angle Glaucoma Juvenile Onset 1 29 MYOC

Anatomical Context for Glaucoma 1, Open Angle, a

MalaCards organs/tissues related to Glaucoma 1, Open Angle, a:

41
Eye, Testes

Publications for Glaucoma 1, Open Angle, a

Variations for Glaucoma 1, Open Angle, a

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, a:

75 (show top 50) (show all 58)
# Symbol AA change Variation ID SNP ID
1 CYP1B1 p.Arg368His VAR_016034 rs79204362
2 MYOC p.Gly246Arg VAR_005468
3 MYOC p.Gln337Arg VAR_005469 rs74315335
4 MYOC p.Gly364Val VAR_005470 rs121909193
5 MYOC p.Gly367Arg VAR_005471 rs74315334
6 MYOC p.Pro370Leu VAR_005472 rs74315330
7 MYOC p.Val426Phe VAR_005473
8 MYOC p.Tyr437His VAR_005474 rs74315328
9 MYOC p.Ile477Ser VAR_005475 rs74315331
10 MYOC p.Asn480Lys VAR_005476 rs74315332
11 MYOC p.Ile499Phe VAR_005477
12 MYOC p.Val53Ala VAR_008969 rs200208925
13 MYOC p.Cys433Arg VAR_008970 rs74315338
14 MYOC p.Arg82Cys VAR_009671 rs764005392
15 MYOC p.Trp286Arg VAR_009675
16 MYOC p.Thr293Lys VAR_009676 rs139122673
17 MYOC p.Pro361Ser VAR_009680
18 MYOC p.Thr377Met VAR_009681 rs566289099
19 MYOC p.Asp380Ala VAR_009682
20 MYOC p.Asp380Gly VAR_009683
21 MYOC p.Ser393Arg VAR_009684 rs998968146
22 MYOC p.Arg422His VAR_009688 rs201573718
23 MYOC p.Lys423Glu VAR_009689 rs74315336
24 MYOC p.Ala445Val VAR_009691 rs140967767
25 MYOC p.Ile465Met VAR_009692
26 MYOC p.Arg470Cys VAR_009693 rs771122834
27 MYOC p.Ile477Asn VAR_009695 rs74315331
28 MYOC p.Pro481Leu VAR_009696
29 MYOC p.Pro481Thr VAR_009697
30 MYOC p.Ser502Pro VAR_009700
31 MYOC p.Cys25Arg VAR_054271 rs755246983
32 MYOC p.Gln48His VAR_054272 rs74315339
33 MYOC p.Arg126Trp VAR_054277 rs200120115
34 MYOC p.Arg158Gln VAR_054278 rs199746824
35 MYOC p.Cys245Tyr VAR_054281 rs74315340
36 MYOC p.Val251Ala VAR_054282
37 MYOC p.Gly252Arg VAR_054283 rs74315341
38 MYOC p.Glu261Lys VAR_054284 rs982896610
39 MYOC p.Pro274Arg VAR_054286
40 MYOC p.Glu323Lys VAR_054288
41 MYOC p.Gln337Glu VAR_054289
42 MYOC p.Ser341Pro VAR_054290
43 MYOC p.Arg342Lys VAR_054291
44 MYOC p.Ile345Met VAR_054292
45 MYOC p.Ile360Asn VAR_054293
46 MYOC p.Ala363Thr VAR_054294
47 MYOC p.Phe369Leu VAR_054295
48 MYOC p.Thr377Lys VAR_054296
49 MYOC p.Asp380His VAR_054297 rs121909194
50 MYOC p.Asp380Asn VAR_054298

ClinVar genetic disease variations for Glaucoma 1, Open Angle, a:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOC NM_000261.1(MYOC): c.1309T> C (p.Tyr437His) single nucleotide variant Pathogenic rs74315328 GRCh37 Chromosome 1, 171605271: 171605271
2 MYOC NM_000261.1(MYOC): c.1309T> C (p.Tyr437His) single nucleotide variant Pathogenic rs74315328 GRCh38 Chromosome 1, 171636131: 171636131
3 MYOC NM_000261.1(MYOC): c.1091G> T (p.Gly364Val) single nucleotide variant Pathogenic rs121909193 GRCh37 Chromosome 1, 171605489: 171605489
4 MYOC NM_000261.1(MYOC): c.1091G> T (p.Gly364Val) single nucleotide variant Pathogenic rs121909193 GRCh38 Chromosome 1, 171636349: 171636349
5 MYOC NM_000261.1(MYOC): c.1109C> T (p.Pro370Leu) single nucleotide variant Pathogenic rs74315330 GRCh37 Chromosome 1, 171605471: 171605471
6 MYOC NM_000261.1(MYOC): c.1109C> T (p.Pro370Leu) single nucleotide variant Pathogenic rs74315330 GRCh38 Chromosome 1, 171636331: 171636331
7 MYOC NM_000261.1(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Likely pathogenic rs74315329 GRCh37 Chromosome 1, 171605478: 171605478
8 MYOC NM_000261.1(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Likely pathogenic rs74315329 GRCh38 Chromosome 1, 171636338: 171636338
9 MYOC NM_000261.1(MYOC): c.1430T> G (p.Ile477Ser) single nucleotide variant Pathogenic rs74315331 GRCh37 Chromosome 1, 171605150: 171605150
10 MYOC NM_000261.1(MYOC): c.1430T> G (p.Ile477Ser) single nucleotide variant Pathogenic rs74315331 GRCh38 Chromosome 1, 171636010: 171636010
11 MYOC NM_000261.1(MYOC): c.1440C> A (p.Asn480Lys) single nucleotide variant Pathogenic rs74315332 GRCh37 Chromosome 1, 171605140: 171605140
12 MYOC NM_000261.1(MYOC): c.1440C> A (p.Asn480Lys) single nucleotide variant Pathogenic rs74315332 GRCh38 Chromosome 1, 171636000: 171636000
13 MYOC NM_000261.1(MYOC): c.1099G> A (p.Gly367Arg) single nucleotide variant Pathogenic rs74315334 GRCh37 Chromosome 1, 171605481: 171605481
14 MYOC NM_000261.1(MYOC): c.1099G> A (p.Gly367Arg) single nucleotide variant Pathogenic rs74315334 GRCh38 Chromosome 1, 171636341: 171636341
15 MYOC NM_000261.1(MYOC): c.1010A> G (p.Gln337Arg) single nucleotide variant Pathogenic rs74315335 GRCh37 Chromosome 1, 171605570: 171605570
16 MYOC NM_000261.1(MYOC): c.1010A> G (p.Gln337Arg) single nucleotide variant Pathogenic rs74315335 GRCh38 Chromosome 1, 171636430: 171636430
17 MYOC NM_000261.1(MYOC): c.1267A> G (p.Lys423Glu) single nucleotide variant Pathogenic rs74315336 GRCh37 Chromosome 1, 171605313: 171605313
18 MYOC NM_000261.1(MYOC): c.1267A> G (p.Lys423Glu) single nucleotide variant Pathogenic rs74315336 GRCh38 Chromosome 1, 171636173: 171636173
19 MYOC NM_000261.1(MYOC): c.1297T> C (p.Cys433Arg) single nucleotide variant Pathogenic rs74315338 GRCh37 Chromosome 1, 171605283: 171605283
20 MYOC NM_000261.1(MYOC): c.1297T> C (p.Cys433Arg) single nucleotide variant Pathogenic rs74315338 GRCh38 Chromosome 1, 171636143: 171636143
21 MYOC NM_000261.1(MYOC): c.144G> T (p.Gln48His) single nucleotide variant Pathogenic rs74315339 GRCh37 Chromosome 1, 171621608: 171621608
22 MYOC NM_000261.1(MYOC): c.144G> T (p.Gln48His) single nucleotide variant Pathogenic rs74315339 GRCh38 Chromosome 1, 171652468: 171652468
23 MYOC NM_000261.1(MYOC): c.734G> A (p.Cys245Tyr) single nucleotide variant Pathogenic rs74315340 GRCh37 Chromosome 1, 171605846: 171605846
24 MYOC NM_000261.1(MYOC): c.734G> A (p.Cys245Tyr) single nucleotide variant Pathogenic rs74315340 GRCh38 Chromosome 1, 171636706: 171636706
25 MYOC NM_000261.1(MYOC): c.754G> A (p.Gly252Arg) single nucleotide variant Pathogenic rs74315341 GRCh37 Chromosome 1, 171605826: 171605826
26 MYOC NM_000261.1(MYOC): c.754G> A (p.Gly252Arg) single nucleotide variant Pathogenic rs74315341 GRCh38 Chromosome 1, 171636686: 171636686
27 MYOC NM_000261.1(MYOC): c.1138G> C (p.Asp380His) single nucleotide variant Pathogenic rs121909194 GRCh37 Chromosome 1, 171605442: 171605442
28 MYOC NM_000261.1(MYOC): c.1138G> C (p.Asp380His) single nucleotide variant Pathogenic rs121909194 GRCh38 Chromosome 1, 171636302: 171636302
29 MYOC NM_000261.1(MYOC): c.1430T> A (p.Ile477Asn) single nucleotide variant Pathogenic rs74315331 GRCh37 Chromosome 1, 171605150: 171605150
30 MYOC NM_000261.1(MYOC): c.1430T> A (p.Ile477Asn) single nucleotide variant Pathogenic rs74315331 GRCh38 Chromosome 1, 171636010: 171636010

Expression for Glaucoma 1, Open Angle, a

Search GEO for disease gene expression data for Glaucoma 1, Open Angle, a.

Pathways for Glaucoma 1, Open Angle, a

GO Terms for Glaucoma 1, Open Angle, a

Sources for Glaucoma 1, Open Angle, a

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