GLC3D
MCID: GLC054
MIFTS: 25

Glaucoma 3, Primary Congenital, D (GLC3D)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 72 29 13 6 70
Glc3d 57 72
Glaucoma, Congenital, Primary, Type 3d 39
Primary Congenital Glaucoma 3d 72

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM® 57 613086
MeSH 44 D005901
MedGen 41 C2751316
UMLS 70 C2751316

Summaries for Glaucoma 3, Primary Congenital, D

UniProtKB/Swiss-Prot : 72 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. 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 ectopia lentis and corneal opacity

More information from OMIM: 613086

Related Diseases for Glaucoma 3, Primary Congenital, D

Symptoms & Phenotypes for Glaucoma 3, Primary Congenital, D

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

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

Clinical features from OMIM®:

613086 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Glaucoma 3, Primary Congenital, D

Articles related to Glaucoma 3, Primary Congenital, D:

# Title Authors PMID Year
1
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. 57 6
21081970 2011
2
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 57 6
19656777 2009
3
Null mutations in LTBP2 cause primary congenital glaucoma. 6 57
19361779 2009
4
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 6
20179738 2010
5
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. 57
18776954 2008
6
An Insight into Primary Congenital Glaucoma. 61
32421983 2020
7
Update in Genetics and Surgical Management of Primary Congenital Glaucoma 61
31893591 2019
8
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. 61
30089822 2018
9
Primary Congenital Glaucoma and the Involvement of CYP1B1. 61
21572728 2011

Variations for Glaucoma 3, Primary Congenital, D

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

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP2 NM_000428.3(LTBP2):c.412del (p.Ala138fs) Deletion Pathogenic 7555 rs1566660365 GRCh37: 14:75078236-75078236
GRCh38: 14:74611533-74611533
2 LTBP2 NM_000428.3(LTBP2):c.1243_1256del (p.Glu415fs) Deletion Pathogenic 7556 rs1566635134 GRCh37: 14:75019033-75019046
GRCh38: 14:74552330-74552343
3 LTBP2 NM_000428.3(LTBP2):c.331C>T (p.Gln111Ter) SNV Pathogenic 7557 rs121918356 GRCh37: 14:75078317-75078317
GRCh38: 14:74611614-74611614
4 LTBP2 NM_000428.3(LTBP2):c.1417del (p.Leu473fs) Deletion Pathogenic 7559 rs1566634475 GRCh37: 14:75018036-75018036
GRCh38: 14:74551333-74551333
5 LTBP2 NM_000428.3(LTBP2):c.5376del (p.Cys1793fs) Deletion Pathogenic 126959 rs137854895 GRCh37: 14:74967677-74967677
GRCh38: 14:74500974-74500974
6 LTBP2 NM_000428.3(LTBP2):c.4767dup (p.Val1590fs) Duplication Pathogenic 997633 GRCh37: 14:74970042-74970043
GRCh38: 14:74503339-74503340
7 LTBP2 NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) SNV Pathogenic 7554 rs121918355 GRCh37: 14:75022332-75022332
GRCh38: 14:74555629-74555629
8 LTBP2 NM_000428.3(LTBP2):c.3527-1G>C SNV Pathogenic 1028259 GRCh37: 14:74975433-74975433
GRCh38: 14:74508730-74508730
9 LTBP2 NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) SNV Uncertain significance 314288 rs149991486 GRCh37: 14:74976898-74976898
GRCh38: 14:74510195-74510195
10 LTBP2 NM_000428.3(LTBP2):c.3400G>A (p.Glu1134Lys) SNV Uncertain significance 1028258 GRCh37: 14:74975944-74975944
GRCh38: 14:74509241-74509241
11 LTBP2 NM_000428.3(LTBP2):c.*1029G>A SNV Uncertain significance 887566 GRCh37: 14:74966558-74966558
GRCh38: 14:74499855-74499855
12 LTBP2 NM_000428.3(LTBP2):c.*1005C>T SNV Uncertain significance 887567 GRCh37: 14:74966582-74966582
GRCh38: 14:74499879-74499879
13 LTBP2 NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) SNV Uncertain significance 887686 GRCh37: 14:74968283-74968283
GRCh38: 14:74501580-74501580
14 LTBP2 NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) SNV Uncertain significance 887687 GRCh37: 14:74969371-74969371
GRCh38: 14:74502668-74502668
15 LTBP2 NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) SNV Uncertain significance 887688 GRCh37: 14:74969470-74969470
GRCh38: 14:74502767-74502767
16 LTBP2 NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) SNV Uncertain significance 788707 rs144521879 GRCh37: 14:74970666-74970666
GRCh38: 14:74503963-74503963
17 LTBP2 NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) SNV Uncertain significance 887742 GRCh37: 14:74970676-74970676
GRCh38: 14:74503973-74503973
18 LTBP2 NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) SNV Uncertain significance 884732 GRCh37: 14:74976521-74976521
GRCh38: 14:74509818-74509818
19 LTBP2 NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) SNV Uncertain significance 785818 rs45468895 GRCh37: 14:74975348-74975348
GRCh38: 14:74508645-74508645
20 LTBP2 NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) SNV Uncertain significance 884669 GRCh37: 14:74975325-74975325
GRCh38: 14:74508622-74508622
21 LTBP2 NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) SNV Uncertain significance 723541 rs767484358 GRCh37: 14:74975314-74975314
GRCh38: 14:74508611-74508611
22 LTBP2 NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) SNV Uncertain significance 884668 GRCh37: 14:74974742-74974742
GRCh38: 14:74508039-74508039
23 LTBP2 NM_000428.3(LTBP2):c.*119C>T SNV Uncertain significance 884477 GRCh37: 14:74967468-74967468
GRCh38: 14:74500765-74500765
24 LTBP2 NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) SNV Uncertain significance 828006 rs199581688 GRCh37: 14:74999138-74999138
GRCh38: 14:74532435-74532435
25 LTBP2 NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) SNV Uncertain significance 785818 rs45468895 GRCh37: 14:74975348-74975348
GRCh38: 14:74508645-74508645
26 LTBP2 NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) Duplication Uncertain significance 487460 rs554570575 GRCh37: 14:75052565-75052566
GRCh38: 14:74585862-74585863
27 LTBP2 NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) SNV Uncertain significance 314273 rs562333691 GRCh37: 14:74970735-74970735
GRCh38: 14:74504032-74504032
28 LTBP2 NM_000428.3(LTBP2):c.450G>T (p.Arg150=) SNV Uncertain significance 314317 rs111342797 GRCh37: 14:75078198-75078198
GRCh38: 14:74611495-74611495
29 LTBP2 NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) SNV Uncertain significance 314312 rs200471693 GRCh37: 14:75019655-75019655
GRCh38: 14:74552952-74552952
30 LTBP2 NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) SNV Uncertain significance 314304 rs775155970 GRCh37: 14:75002660-75002660
GRCh38: 14:74535957-74535957
31 LTBP2 NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) SNV Uncertain significance 314319 rs773927709 GRCh37: 14:75078638-75078638
GRCh38: 14:74611935-74611935
32 LTBP2 NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) SNV Uncertain significance 314316 rs149952751 GRCh37: 14:75052587-75052587
GRCh38: 14:74585884-74585884
33 LTBP2 NM_000428.3(LTBP2):c.*638T>G SNV Uncertain significance 314256 rs886050750 GRCh37: 14:74966949-74966949
GRCh38: 14:74500246-74500246
34 LTBP2 NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) SNV Uncertain significance 314268 rs140493259 GRCh37: 14:74969562-74969562
GRCh38: 14:74502859-74502859
35 LTBP2 NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) SNV Uncertain significance 314278 rs61738013 GRCh37: 14:74973898-74973898
GRCh38: 14:74507195-74507195
36 LTBP2 NM_000428.3(LTBP2):c.2789-9T>C SNV Uncertain significance 314293 rs368269193 GRCh37: 14:74983653-74983653
GRCh38: 14:74516950-74516950
37 LTBP2 NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) SNV Uncertain significance 314265 rs772174775 GRCh37: 14:74968168-74968168
GRCh38: 14:74501465-74501465
38 LTBP2 NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) SNV Uncertain significance 314275 rs150484024 GRCh37: 14:74971770-74971770
GRCh38: 14:74505067-74505067
39 LTBP2 NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) SNV Uncertain significance 314290 rs151176143 GRCh37: 14:74983580-74983580
GRCh38: 14:74516877-74516877
40 LTBP2 NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) SNV Uncertain significance 888083 GRCh37: 14:75017841-75017841
GRCh38: 14:74551138-74551138
41 LTBP2 NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) SNV Uncertain significance 888131 GRCh37: 14:75022238-75022238
GRCh38: 14:74555535-74555535
42 LTBP2 NM_000428.3(LTBP2):c.970A>C (p.Arg324=) SNV Uncertain significance 888132 GRCh37: 14:75022257-75022257
GRCh38: 14:74555554-74555554
43 LTBP2 NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) SNV Uncertain significance 885477 GRCh37: 14:74970002-74970002
GRCh38: 14:74503299-74503299
44 LTBP2 NM_000428.3(LTBP2):c.804G>A (p.Pro268=) SNV Uncertain significance 885010 GRCh37: 14:75052583-75052583
GRCh38: 14:74585880-74585880
45 LTBP2 NM_000428.3(LTBP2):c.807C>T (p.Pro269=) SNV Uncertain significance 715782 rs61738024 GRCh37: 14:75052580-75052580
GRCh38: 14:74585877-74585877
46 LTBP2 NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) SNV Uncertain significance 885009 GRCh37: 14:75022322-75022322
GRCh38: 14:74555619-74555619
47 LTBP2 NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) SNV Uncertain significance 737783 rs74758312 GRCh37: 14:74995394-74995394
GRCh38: 14:74528691-74528691
48 LTBP2 NM_000428.3(LTBP2):c.378C>T (p.Pro126=) SNV Uncertain significance 710368 rs140842900 GRCh37: 14:75078270-75078270
GRCh38: 14:74611567-74611567
49 LTBP2 NM_000428.3(LTBP2):c.246G>A (p.Leu82=) SNV Uncertain significance 888194 GRCh37: 14:75078402-75078402
GRCh38: 14:74611699-74611699
50 LTBP2 NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) SNV Uncertain significance 487467 rs79886273 GRCh37: 14:75078428-75078428
GRCh38: 14:74611725-74611725

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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45 MESH via Orphanet
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49 NCI
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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