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 53 71
Glc3e 53 71

Characteristics:

OMIM:

53
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:



External Ids:

OMIM 53 617272
MeSH 41 D005901
SNOMED-CT via HPO 65 263681008 204118005 268158009

Summaries for Glaucoma 3, Primary Congenital, E

UniProtKB/Swiss-Prot : 71 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, and has symptoms including megalocornea An important gene associated with Glaucoma 3, Primary Congenital, E is TEK (TEK Receptor Tyrosine Kinase). Affiliated tissues include eye.

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 megalocornea 31 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:

38
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:

71
# 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.448G> T (p.Glu150Ter) single nucleotide variant Pathogenic rs753021890 GRCh38 Chromosome 9, 27168578: 27168578

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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