GDLD
MCID: CRN106
MIFTS: 38

Corneal Dystrophy, Gelatinous Drop-Like (GDLD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Gelatinous Drop-Like

MalaCards integrated aliases for Corneal Dystrophy, Gelatinous Drop-Like:

Name: Corneal Dystrophy, Gelatinous Drop-Like 58 54 76 13 45
Gelatinous Drop-Like Corneal Dystrophy 12 54 60 38 15
Lattice Corneal Dystrophy Type Iii 76 30 6
Corneal Amyloidosis 12 54 76
Cdgdl 58 54 76
Gdld 58 54 76
Primary Familial Amyloidosis of the Cornea 12 60
Amyloid Corneal Dystrophy, Japanese Type 58 54
Subepithelial Amyloidosis of the Cornea 12 60
Corneal Dystrophy, Lattice Type 3 54 74
Amyloidosis, Corneal 58 56
Gdcd 12 60
Dystrophy, Corneal, Gelatinous Drop-Like 41
Amyloid Corneal Dystrophy Japanese Type 76
Corneal Dystrophy, Lattice Type Iii 58
Lattice Corneal Dystrophy, Type Iii 58
Lattice Corneal Dystrophy Type3 54
Amyloidosis Corneal 54
Amyloid of Cornea 74

Characteristics:

Orphanet epidemiological data:

60
gelatinous drop-like corneal dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
incidence 1 in 300,000 in japan


HPO:

33
corneal dystrophy, gelatinous drop-like:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060449
OMIM 58 204870
KEGG 38 H00953
MESH via Orphanet 46 C535480
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C0339273
Orphanet 60 ORPHA98957
MedGen 43 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98957Disease definitionGelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.EpidemiologyWorldwide prevalence of this form of corneal dystrophy is not known. Cases have been reported in patients from India, Tunisia, Vietnam, Turkey, the USA and other countries, but most cases seem to be in Japan where prevalence is estimated to be 1/300,000.Clinical descriptionLesions generally develop in the first or second decade of life. The clinical features include severe photophobia, tearing, a corneal foreign body sensation and severe progressive loss of vision.EtiologyGelatinous drop-like corneal dystrophy is mostly caused by mutations in the TACSTD2 gene (1p32) encoding tumor-associated calcium signal transducer 2. More than 20 mutations have been reported but some patients have been found not to have a mutation in this gene, which suggests genetic heterogeneity.Diagnostic methodsFusiform deposits similar to those in lattice corneal dystrophy (LCD, see this term) in the deeper stroma may be found by light microscopy.Genetic counselingAn autosomal recessive pattern of inheritance has been reported.Management and treatmentAn unsatisfactory response has been observed to both lamellar keratoplasty (LKP) and penetrating keratoplasty (PK), as well as to a superficial keratectomy, since amyloid recurs in the graft within about 5 years.Visit the Orphanet disease page for more resources.

MalaCards based summary : Corneal Dystrophy, Gelatinous Drop-Like, also known as gelatinous drop-like corneal dystrophy, is related to lattice corneal dystrophy and corneal degeneration. 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 and endothelial, and related phenotypes are photophobia and corneal dystrophy

OMIM : 58 Gelatinous drop-like corneal dystrophy 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, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999). (204870)

UniProtKB/Swiss-Prot : 76 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.

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

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

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 corneal dystrophy 33 HP:0001131
3 reduced visual acuity 33 HP:0007663
4 blurred vision 33 HP:0000622

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity
lacrimation (early symptom)
blurred vision (early symptom)
photophobia (early symptom)
foreign-body sensation (early symptom)
more

Clinical features from OMIM:

204870

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:

# Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type Iii 30 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

42
Eye, Endothelial

Publications for Corneal Dystrophy, Gelatinous Drop-Like

Articles related to Corneal Dystrophy, Gelatinous Drop-Like:

(show all 47)
# Title Authors Year
1
Efficacy of therapeutic soft contact lens in the management of gelatinous drop-like corneal dystrophy. ( 31023713 )
2019
2
Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy. ( 30204612 )
2018
3
Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD). ( 29988226 )
2017
4
Gelatinous drop-like corneal dystrophy: a review. ( 27913443 )
2017
5
Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy. ( 26990741 )
2016
6
Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. ( 27149532 )
2016
7
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family. ( 27227392 )
2016
8
Clinico-histopathological and biochemical analyses of corneal amyloidosis in gelatinous drop-like corneal dystrophy. ( 25402568 )
2015
9
Combined Excimer Laser Photoablation and Amniotic Membrane Overlay for Relief of Symptomatic Discomfort in Gelatinous Drop-like Corneal Dystrophy. ( 26203750 )
2015
10
Boston type I keratoprosthesis for treatment of gelatinous drop-like corneal dystrophy after repeated graft failure. ( 24117413 )
2015
11
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. ( 27081552 )
2015
12
Limbal Stem Cell Transplantation for Gelatinous Drop-like Corneal Dystrophy. ( 23943684 )
2013
13
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. ( 22367041 )
2012
14
Co-localisation of advanced glycation end products and D-β-aspartic acid-containing proteins in gelatinous drop-like corneal dystrophy. ( 22694960 )
2012
15
Gelatinous drop-like corneal dystrophy. ( 23038033 )
2012
16
Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report. ( 23471333 )
2012
17
Clinical and basic aspects of gelatinous drop-like corneal dystrophy. ( 21540633 )
2011
18
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization. ( 21541270 )
2011
19
Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy. ( 21052915 )
2010
20
Morphological and histopathological changes in gelatinous drop-like corneal dystrophy during a 15-year follow-up. ( 19799588 )
2010
21
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. ( 20454699 )
2010
22
Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. ( 20651236 )
2010
23
Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient. ( 20806038 )
2010
24
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy. ( 19693293 )
2009
25
Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy. ( 17325151 )
2007
26
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families. ( 17653040 )
2007
27
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. ( 17167402 )
2006
28
[Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy]. ( 16610095 )
2006
29
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. ( 15254496 )
2005
30
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy. ( 15652848 )
2005
31
A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan. ( 15183793 )
2004
32
Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. ( 15295654 )
2004
33
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy. ( 12614764 )
2003
34
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. ( 12107443 )
2002
35
Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. ( 10928776 )
2000
36
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. ( 11004271 )
2000
37
Identification of the gene responsible for gelatinous drop-like corneal dystrophy. ( 10192395 )
1999
38
Histopathology of recurrent gelatinous drop-like corneal dystrophy. ( 9520202 )
1998
39
Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. ( 9758629 )
1998
40
Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. ( 9860011 )
1998
41
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. ( 9873069 )
1998
42
A case of one eye with gelatinous drop-like corneal dystrophy and the other eye with band-shaped spheroidal corneal degeneration. ( 7746654 )
1995
43
Primary gelatinous drop-like corneal dystrophy in a white woman. A pathologic, ultrastructural, and immunohistochemical study. ( 8156793 )
1994
44
Histopathologic and immunohistochemical findings in gelatinous drop-like corneal dystrophy. ( 2089348 )
1990
45
Unusual inclusions in stromal macrophages in a case of gelatinous drop-like corneal dystrophy. ( 2983559 )
1985
46
The origin of amyloid in gelatinous drop-like corneal dystrophy. ( 6759055 )
1982
47
Electron microscopic studies of primary band-shaped keratopathy and gelatinous, drop-like corneal dystrophy in two brothers. ( 6981369 )
1982

Variations for Corneal Dystrophy, Gelatinous Drop-Like

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

6 (show all 14)
# 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.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic rs80358223 GRCh38 Chromosome 1, 58576805: 58576805
3 TACSTD2 NM_002353.2(TACSTD2): c.619C> T (p.Gln207Ter) single nucleotide variant Pathogenic rs80358224 GRCh37 Chromosome 1, 59042210: 59042210
4 TACSTD2 NM_002353.2(TACSTD2): c.619C> T (p.Gln207Ter) single nucleotide variant Pathogenic rs80358224 GRCh38 Chromosome 1, 58576538: 58576538
5 TACSTD2 NM_002353.2(TACSTD2): c.509C> A (p.Ser170Ter) single nucleotide variant Pathogenic rs80358225 GRCh37 Chromosome 1, 59042320: 59042320
6 TACSTD2 NM_002353.2(TACSTD2): c.509C> A (p.Ser170Ter) single nucleotide variant Pathogenic rs80358225 GRCh38 Chromosome 1, 58576648: 58576648
7 TACSTD2 TACSTD2, 1-BP DEL, 632A deletion Pathogenic
8 TACSTD2 NM_002353.2(TACSTD2): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs80358226 GRCh37 Chromosome 1, 59042827: 59042827
9 TACSTD2 NM_002353.2(TACSTD2): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs80358226 GRCh38 Chromosome 1, 58577155: 58577155
10 TACSTD2 NM_002353.2(TACSTD2): c.355T> A (p.Cys119Ser) single nucleotide variant Pathogenic rs80358227 GRCh37 Chromosome 1, 59042474: 59042474
11 TACSTD2 NM_002353.2(TACSTD2): c.355T> A (p.Cys119Ser) single nucleotide variant Pathogenic rs80358227 GRCh38 Chromosome 1, 58576802: 58576802
12 TACSTD2 TACSTD2, 12-BP DEL/1-BP INS, NT772 indel Pathogenic
13 TACSTD2 NM_002353.2(TACSTD2): c.557T> C (p.Leu186Pro) single nucleotide variant Pathogenic rs80358228 GRCh37 Chromosome 1, 59042272: 59042272
14 TACSTD2 NM_002353.2(TACSTD2): c.557T> C (p.Leu186Pro) single nucleotide variant Pathogenic rs80358228 GRCh38 Chromosome 1, 58576600: 58576600

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:

# Super pathways Score Top Affiliating Genes
1 11.06 GSN TACSTD2
2 10.71 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 GSN LTF TACSTD2 TGFBI
2 trans-Golgi network GO:0005802 9.16 CHST6 TGFBI
3 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:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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