MCID: GLC089
MIFTS: 16

Glaucoma 3, Primary Congenital, E

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal 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 75 6
Glc3e 57 75

Characteristics:

OMIM:

57
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:

32
glaucoma 3, primary congenital, e:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617272
MeSH 44 D005901
SNOMED-CT via HPO 69 263681008 204118005 268158009

Summaries for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot : 75 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 phenotype is megalocornea.

Description from OMIM: 617272

Related Diseases for Glaucoma 3, Primary Congenital, E

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, E

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

617272

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

32
# Description HPO Frequency HPO Source Accession
1 megalocornea 32 HP:0000485

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

Anatomical Context for Glaucoma 3, Primary Congenital, E

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

41
Eye

Publications for Glaucoma 3, Primary Congenital, E

Variations for Glaucoma 3, Primary Congenital, E

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

75
# Symbol AA change Variation ID SNP ID
1 TEK p.Cys233Tyr VAR_078046
2 TEK p.Tyr611Cys VAR_078048

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TEK NM_000459.4(TEK): c.921C> A (p.Tyr307Ter) single nucleotide variant Pathogenic rs541217363 GRCh38 Chromosome 9, 27180259: 27180259
2 TEK NM_000459.4(TEK): c.921C> A (p.Tyr307Ter) single nucleotide variant Pathogenic rs541217363 GRCh37 Chromosome 9, 27180257: 27180257
3 TEK NM_000459.4(TEK): c.448G> T (p.Glu150Ter) single nucleotide variant Pathogenic rs753021890 GRCh38 Chromosome 9, 27168578: 27168578
4 TEK NM_000459.4(TEK): c.448G> T (p.Glu150Ter) single nucleotide variant Pathogenic rs753021890 GRCh37 Chromosome 9, 27168576: 27168576

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....