MCID: GLC054
MIFTS: 18

Glaucoma 3, Primary Congenital, D

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

Aliases & Classifications for Glaucoma 3, Primary Congenital, D

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

Name: Glaucoma 3, Primary Congenital, D 53 71 28 13 69
Glc3d 53 71
Primary Congenital Glaucoma 3d 71

Characteristics:

HPO:

31
glaucoma 3, primary congenital, d:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glaucoma 3, Primary Congenital, D

UniProtKB/Swiss-Prot : 71 Glaucoma 3, primary congenital, D: 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.

MalaCards based summary : Glaucoma 3, Primary Congenital, D, is also known as glc3d, and has symptoms including photophobia, ectopia lentis and corneal opacity. An important gene associated with Glaucoma 3, Primary Congenital, D is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye.

Description from OMIM: 613086

Related Diseases for Glaucoma 3, Primary Congenital, D

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, D

Clinical features from OMIM:

613086

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

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 ectopia lentis 31 very rare (1%) HP:0001083
3 corneal opacity 31 HP:0007957
4 primary congenital glaucoma 31 HP:0008007

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, D

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

Genetic Tests for Glaucoma 3, Primary Congenital, D

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

# Genetic test Affiliating Genes
1 Glaucoma 3, Primary Congenital, D 28 LTBP2

Anatomical Context for Glaucoma 3, Primary Congenital, D

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

38
Eye

Publications for Glaucoma 3, Primary Congenital, D

Variations for Glaucoma 3, Primary Congenital, D

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP2 NM_000428.2(LTBP2): c.895C> T (p.Arg299Ter) single nucleotide variant Pathogenic rs121918355 GRCh37 Chromosome 14, 75022332: 75022332
2 LTBP2 LTBP2, 1-BP DEL, 412G deletion Pathogenic
3 LTBP2 LTBP2, 14-BP DEL, NT1243 deletion Pathogenic
4 LTBP2 NM_000428.2(LTBP2): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic rs121918356 GRCh37 Chromosome 14, 75078317: 75078317
5 LTBP2 LTBP2, 1-BP DEL, 1415C deletion Pathogenic
6 LTBP2 LTBP2, 1-BP DEL, 5376C deletion Pathogenic

Expression for Glaucoma 3, Primary Congenital, D

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

Pathways for Glaucoma 3, Primary Congenital, D

GO Terms for Glaucoma 3, Primary Congenital, D

Sources for Glaucoma 3, Primary Congenital, D

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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