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 57 75 29 13 6 73
Glc3d 57 75
Glaucoma, Congenital, Primary, Type 3d 40
Primary Congenital Glaucoma 3d 75

Characteristics:

HPO:

32
glaucoma 3, primary congenital, d:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glaucoma 3, Primary Congenital, D

UniProtKB/Swiss-Prot : 75 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, also known as glc3d, is related to weill-marchesani syndrome 3. An important gene associated with Glaucoma 3, Primary Congenital, D is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2). Affiliated tissues include eye, and related phenotypes are photophobia and ectopia lentis

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
# 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

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 29 LTBP2

Anatomical Context for Glaucoma 3, Primary Congenital, D

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

41
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 LTBP2, 1-BP DEL, 1415C deletion Pathogenic
2 LTBP2 NM_000428.2(LTBP2): c.895C> T (p.Arg299Ter) single nucleotide variant Pathogenic rs121918355 GRCh37 Chromosome 14, 75022332: 75022332
3 LTBP2 NM_000428.2(LTBP2): c.895C> T (p.Arg299Ter) single nucleotide variant Pathogenic rs121918355 GRCh38 Chromosome 14, 74555629: 74555629
4 LTBP2 LTBP2, 1-BP DEL, 412G deletion Pathogenic
5 LTBP2 LTBP2, 14-BP DEL, NT1243 deletion Pathogenic
6 LTBP2 NM_000428.2(LTBP2): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic rs121918356 GRCh37 Chromosome 14, 75078317: 75078317
7 LTBP2 NM_000428.2(LTBP2): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic rs121918356 GRCh38 Chromosome 14, 74611614: 74611614
8 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
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
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