GDLD
MCID: CRN106
MIFTS: 31

Corneal Dystrophy, Gelatinous Drop-Like (GDLD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Gelatinous Drop-Like

Aliases & Descriptions for Corneal Dystrophy, Gelatinous Drop-Like:

Name: Corneal Dystrophy, Gelatinous Drop-Like 54 50 24 66 13 42
Gelatinous Drop-Like Corneal Dystrophy 12 50 56 14
Lattice Corneal Dystrophy Type Iii 24 66 29
Corneal Amyloidosis 12 50 66
Primary Familial Amyloidosis of the Cornea 12 56
Subepithelial Amyloidosis of the Cornea 12 56
Corneal Dystrophy, Lattice Type 3 50 69
Cdgdl 50 66
Gdcd 12 56
Gdld 50 66
Amyloid Corneal Dystrophy, Japanese Type 50
Amyloid Corneal Dystrophy Japanese Type 66
Lattice Corneal Dystrophy Type3 50
Amyloidosis, Corneal 52
Amyloidosis Corneal 50
Amyloid of Cornea 69

Characteristics:

Orphanet epidemiological data:

56
gelatinous drop-like corneal dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood;

HPO:

32
corneal dystrophy, gelatinous drop-like:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 204870
Disease Ontology 12 DOID:0060449
SNOMED-CT 64 418946006
Orphanet 56 ORPHA98957
MESH via Orphanet 43 C535480
UMLS via Orphanet 70 C0339273
ICD10 via Orphanet 34 H18.5
MedGen 40 C0339273
UMLS 69 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

UniProtKB/Swiss-Prot : 66 Corneal dystrophy, gelatinous drop-like: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity.

MalaCards based summary : Corneal Dystrophy, Gelatinous Drop-Like, also known as gelatinous drop-like corneal dystrophy, is related to corneal dystrophy, lattice type iiia and corneal dystrophy, and has symptoms including photophobia, blurred vision and visual impairment. An important gene associated with Corneal Dystrophy, Gelatinous Drop-Like is TACSTD2 (Tumor Associated Calcium Signal Transducer 2), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Adhesion. Affiliated tissues include eye.

OMIM : 54 Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis... (204870) more...

Related Diseases for Corneal Dystrophy, Gelatinous Drop-Like

Graphical network of the top 20 diseases related to Corneal Dystrophy, Gelatinous Drop-Like:



Diseases related to Corneal Dystrophy, Gelatinous Drop-Like

Symptoms & Phenotypes for Corneal Dystrophy, Gelatinous Drop-Like

Symptoms by clinical synopsis from OMIM:

204870

Clinical features from OMIM:

204870

Human phenotypes related to Corneal Dystrophy, Gelatinous Drop-Like:

32
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 blurred vision 32 HP:0000622
3 visual impairment 32 HP:0000505
4 corneal dystrophy 32 HP:0001131
5 reduced visual acuity 32 HP:0007663

Drugs & Therapeutics for Corneal Dystrophy, Gelatinous Drop-Like

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Gelatinous Drop-Like

Cochrane evidence based reviews: corneal dystrophy, gelatinous drop-like

Genetic Tests for Corneal Dystrophy, Gelatinous Drop-Like

Genetic tests related to Corneal Dystrophy, Gelatinous Drop-Like:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type Iii 29
2 Corneal Dystrophy, Gelatinous Drop-Like 24 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

MalaCards organs/tissues related to Corneal Dystrophy, Gelatinous Drop-Like:

39
Eye

Publications for Corneal Dystrophy, Gelatinous Drop-Like

Variations for Corneal Dystrophy, Gelatinous Drop-Like

ClinVar genetic disease variations for Corneal Dystrophy, Gelatinous Drop-Like:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TACSTD2 NM_002353.2(TACSTD2): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs80358223 GRCh37 Chromosome 1, 59042477: 59042477
2 TACSTD2 NM_002353.2(TACSTD2): c.619C> T (p.Gln207Ter) single nucleotide variant Pathogenic rs80358224 GRCh37 Chromosome 1, 59042210: 59042210
3 TACSTD2 NM_002353.2(TACSTD2): c.509C> A (p.Ser170Ter) single nucleotide variant Pathogenic rs80358225 GRCh37 Chromosome 1, 59042320: 59042320
4 TACSTD2 TACSTD2, 1-BP DEL, 632A deletion Pathogenic
5 TACSTD2 NM_002353.2(TACSTD2): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs80358226 GRCh37 Chromosome 1, 59042827: 59042827
6 TACSTD2 NM_002353.2(TACSTD2): c.355T> A (p.Cys119Ser) single nucleotide variant Pathogenic rs80358227 GRCh37 Chromosome 1, 59042474: 59042474
7 TACSTD2 TACSTD2, 12-BP DEL/1-BP INS, NT772 indel Pathogenic
8 TACSTD2 NM_002353.2(TACSTD2): c.557T> C (p.Leu186Pro) single nucleotide variant Pathogenic rs80358228 GRCh37 Chromosome 1, 59042272: 59042272

Expression for Corneal Dystrophy, Gelatinous Drop-Like

Search GEO for disease gene expression data for Corneal Dystrophy, Gelatinous Drop-Like.

Pathways for Corneal Dystrophy, Gelatinous Drop-Like

Pathways related to Corneal Dystrophy, Gelatinous Drop-Like according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.05 GSN TACSTD2
2 10.66 TACSTD2 TGFBI

GO Terms for Corneal Dystrophy, Gelatinous Drop-Like

Cellular components related to Corneal Dystrophy, Gelatinous Drop-Like according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 GSN LTF TACSTD2 TGFBI
2 extracellular exosome GO:0070062 9.02 GSN KRT12 LTF TACSTD2 TGFBI

Biological processes related to Corneal Dystrophy, Gelatinous Drop-Like according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.13 GSN LTF TGFBI
2 visual perception GO:0007601 8.8 KRT12 TACSTD2 TGFBI

Sources for Corneal Dystrophy, Gelatinous Drop-Like

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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