MCID: GLC054
MIFTS: 20

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 54 71 29 13 69
Primary Congenital Glaucoma 3d 71
Glc3d 71

Characteristics:

HPO:

32
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 primary congenital glaucoma 3d, 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:

32
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 ectopia lentis 32 very rare (1%) HP:0001083
3 corneal opacity 32 HP:0007957
4 primary congenital glaucoma 32 HP:0008007

Drugs & Therapeutics for Glaucoma 3, Primary Congenital, D

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721

Search 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:

id Genetic test Affiliating Genes
1 Glaucoma 3, Primary Congenital, D 29

Anatomical Context for Glaucoma 3, Primary Congenital, D

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

39
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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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