GLC3E
MCID: GLC089
MIFTS: 20

Glaucoma 3, Primary Congenital, E (GLC3E)

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

Aliases & Classifications for Glaucoma 3, Primary Congenital, E

MalaCards integrated aliases for Glaucoma 3, Primary Congenital, E:

Name: Glaucoma 3, Primary Congenital, E 57 72 29 6
Glc3e 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset ranging from birth to 2 years in most patients
some patients have onset in later decades
variable expressivity within families


HPO:

31
glaucoma 3, primary congenital, e:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot : 72 Glaucoma 3, primary congenital, E: An autosomal dominant 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.

MalaCards based summary : Glaucoma 3, Primary Congenital, E, is also known as glc3e. An important gene associated with Glaucoma 3, Primary Congenital, E is TEK (TEK Receptor Tyrosine Kinase). Affiliated tissues include eye, and related phenotypes are glaucoma and megalocornea

More information from OMIM: 617272

Related Diseases for Glaucoma 3, Primary Congenital, E

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, E

Human phenotypes related to Glaucoma 3, Primary Congenital, E:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 HP:0000501
2 megalocornea 31 HP:0000485
3 edema 31 HP:0000969
4 ocular hypertension 31 HP:0007906

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
corneal edema
glaucoma, unilateral or bilateral
increased corneal diameter (greater than 10 mm)
haab striae
elevated intraocular pressure (greater than 21 mmhg)
more

Clinical features from OMIM®:

617272 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, E

Search Clinical Trials , NIH Clinical Center for Glaucoma 3, Primary Congenital, E

Genetic Tests for Glaucoma 3, Primary Congenital, E

Genetic tests related to Glaucoma 3, Primary Congenital, E:

# Genetic test Affiliating Genes
1 Glaucoma 3, Primary Congenital, E 29 TEK

Anatomical Context for Glaucoma 3, Primary Congenital, E

MalaCards organs/tissues related to Glaucoma 3, Primary Congenital, E:

40
Eye

Publications for Glaucoma 3, Primary Congenital, E

Articles related to Glaucoma 3, Primary Congenital, E:

# Title Authors PMID Year
1
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. 57 6
27270174 2016
2
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. 61
30089822 2018

Variations for Glaucoma 3, Primary Congenital, E

ClinVar genetic disease variations for Glaucoma 3, Primary Congenital, E:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TEK NM_001290077.1(TEK):c.902-3200C>A SNV Pathogenic 374838 rs541217363 GRCh37: 9:27180257-27180257
GRCh38: 9:27180259-27180259
2 TEK NM_000459.4(TEK):c.448G>T (p.Glu150Ter) SNV Pathogenic 374839 rs753021890 GRCh37: 9:27168576-27168576
GRCh38: 9:27168578-27168578
3 TEK NM_000459.4(TEK):c.578A>G (p.Tyr193Cys) SNV Likely pathogenic 804257 rs1587545234 GRCh37: 9:27169577-27169577
GRCh38: 9:27169579-27169579
4 TEK NM_000459.5(TEK):c.2773G>A (p.Ala925Thr) SNV Uncertain significance 930496 GRCh37: 9:27212791-27212791
GRCh38: 9:27212793-27212793
5 TEK NM_000459.5(TEK):c.922G>A (p.Gly308Arg) SNV Uncertain significance 931734 GRCh37: 9:27180258-27180258
GRCh38: 9:27180260-27180260

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 3, Primary Congenital, E:

72
# Symbol AA change Variation ID SNP ID
1 TEK p.Cys233Tyr VAR_078046
2 TEK p.Tyr611Cys VAR_078048 rs130652753

Expression for Glaucoma 3, Primary Congenital, E

Search GEO for disease gene expression data for Glaucoma 3, Primary Congenital, E.

Pathways for Glaucoma 3, Primary Congenital, E

GO Terms for Glaucoma 3, Primary Congenital, E

Sources for Glaucoma 3, Primary Congenital, E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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