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 56 52 73 13 43
Gelatinous Drop-Like Corneal Dystrophy 12 52 58 36 15
Lattice Corneal Dystrophy Type Iii 73 29 6
Corneal Amyloidosis 12 52 73
Cdgdl 56 52 73
Gdld 56 52 73
Primary Familial Amyloidosis of the Cornea 12 58
Amyloid Corneal Dystrophy, Japanese Type 56 52
Subepithelial Amyloidosis of the Cornea 12 58
Corneal Dystrophy, Lattice Type 3 52 71
Amyloidosis, Corneal 56 54
Gdcd 12 58
Dystrophy, Corneal, Gelatinous Drop-Like 39
Amyloid Corneal Dystrophy Japanese Type 73
Corneal Dystrophy, Lattice Type Iii 56
Lattice Corneal Dystrophy, Type Iii 56
Lattice Corneal Dystrophy Type3 52
Amyloidosis Corneal 52
Amyloid of Cornea 71

Characteristics:

Orphanet epidemiological data:

58
gelatinous drop-like corneal dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
corneal dystrophy, gelatinous drop-like:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060449
OMIM 56 204870
KEGG 36 H00953
MESH via Orphanet 44 C535480
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0339273
Orphanet 58 ORPHA98957
MedGen 41 C0339273
UMLS 71 C0339273 C2939149

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98957 Definition Gelatinous 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. Epidemiology Worldwide 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 description Lesions 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. Etiology Gelatinous 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 methods Fusiform deposits similar to those in lattice corneal dystrophy (LCD, see this term) in the deeper stroma may be found by light microscopy. Genetic counseling An autosomal recessive pattern of inheritance has been reported. Management and treatment An 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 corneal dystrophy, lattice type i and amyloidosis, finnish type. An important gene associated with Corneal Dystrophy, Gelatinous Drop-Like is TACSTD2 (Tumor Associated Calcium Signal Transducer 2). Affiliated tissues include eye, endothelial and testes, and related phenotypes are photophobia and corneal dystrophy

OMIM : 56 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)

KEGG : 36 Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.

UniProtKB/Swiss-Prot : 73 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

Diseases related to Corneal Dystrophy, Gelatinous Drop-Like via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, lattice type i 30.6 TGFBI GSN
2 amyloidosis, finnish type 30.0 TGFBI GSN
3 lattice corneal dystrophy 29.7 TGFBI TBCD TACSTD2 KRT12 GSN CHST6
4 keratoconus 28.9 TGFBI KRT3 KRT12 GSN COL8A2
5 corneal edema 28.7 TGFBI KRT3 KRT12 COL8A2
6 fuchs' endothelial dystrophy 28.4 TGFBI KRT3 KRT12 COL8A2 CHST6
7 corneal dystrophy, avellino type 28.3 UBIAD1 TGFBI TBCD KRT3 COL8A2 CHST6
8 granular corneal dystrophy 28.0 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
9 corneal degeneration 28.0 UBIAD1 TGFBI TBCD KRT3 KRT12 COL8A2
10 corneal dystrophy 27.6 UBIAD1 TGFBI TBCD TACSTD2 LTF KRT3
11 corneal disease 27.4 UBIAD1 TGFBI TACSTD2 KRT3 KRT12 GSN
12 corneal dystrophy, lattice type iiia 11.6
13 autosomal recessive disease 10.6
14 keratopathy 10.5
15 keratitis, hereditary 10.4
16 yemenite deaf-blind hypopigmentation syndrome 10.4
17 corneal dystrophy, band-shaped 10.2
18 corneal degeneration, band-shaped spheroid 10.2
19 suppression amblyopia 10.2
20 amblyopia 10.2
21 bullous keratopathy 10.2
22 blepharospasm 10.2
23 interstitial keratitis 10.2
24 amyloidosis 10.2
25 pseudopterygium 10.0 KRT3 KRT12
26 epithelial basement membrane dystrophy 10.0 TGFBI TBCD CHST6
27 cataract 10.0
28 stromal corneal dystrophy 10.0 UBIAD1 TGFBI
29 limbal stem cell deficiency 10.0 KRT3 KRT12
30 myeloma, multiple 9.8
31 intraocular pressure quantitative trait locus 9.8
32 primary congenital glaucoma 9.8
33 trachoma 9.8
34 neovascular glaucoma 9.8
35 familial amyloidosis, finnish type 9.8
36 hereditary amyloidosis 9.8
37 lattice corneal dystrophy type ii 9.8
38 epiblepharon 9.8
39 climatic droplet keratopathy 9.8
40 blepharochalasis 9.8 GSN COL8A2
41 corneal ectasia 9.7 TGFBI COL8A2
42 iris disease 9.7 KRT3 KRT12
43 corneal dystrophy, fleck 9.6 TGFBI TBCD COL8A2
44 schnyder corneal dystrophy 9.5 UBIAD1 TGFBI KRT3 KRT12
45 corneal dystrophy, posterior polymorphous, 3 9.4 UBIAD1 COL8A2
46 irregular astigmatism 9.3 TGFBI KRT3 KRT12 COL8A2
47 corneal dystrophy, lisch epithelial 9.2 UBIAD1 TBCD KRT3 KRT12 CHST6
48 corneal deposit 9.1 UBIAD1 TGFBI TBCD TACSTD2 KRT3 CHST6
49 recurrent corneal erosion 8.9 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
50 corneal dystrophy, reis-bucklers type 8.9 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12

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:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 corneal dystrophy 31 HP:0001131
3 reduced visual acuity 31 HP:0007663
4 blurred vision 31 HP:0000622

Symptoms via clinical synopsis from OMIM:

56
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 29

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

40
Eye, Endothelial, Testes

Publications for Corneal Dystrophy, Gelatinous Drop-Like

Articles related to Corneal Dystrophy, Gelatinous Drop-Like:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. 61 56 6
12107443 2002
2
Identification of the gene responsible for gelatinous drop-like corneal dystrophy. 61 56 6
10192395 1999
3
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy. 56 6
12614764 2003
4
Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. 61 56
9758629 1998
5
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy. 6
15652848 2005
6
Long-term follow-up of patients with familial subepithelial amyloidosis of the cornea. 56
7831029 1995
7
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. 56
1658654 1991
8
Histopathologic and immunochemical features of lattice corneal dystrophy type III. 56
3498367 1987
9
Primary familial amyloidosis of the cornea. 56
7030080 1981
10
Primary familial amyloidosis of the cornea. 56
949079 1976
11
Primary familial amyloidosis of the cornea. 56
4126001 1973
12
Localized corneal amyloidosis: case report with electron microscopic observations. 56
4537070 1972
13
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. 54 61
20454699 2010
14
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy. 54 61
19693293 2009
15
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients. 54 61
17898270 2007
16
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families. 54 61
17653040 2007
17
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. 54 61
15254496 2005
18
Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. 54 61
15295654 2004
19
Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. 54 61
10928776 2000
20
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. 54 61
11004271 2000
21
Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. 54 61
9860011 1998
22
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. 54 61
9873069 1998
23
Novel polymorphisms in the beta ig-h3 gene. 54 61
9747041 1998
24
Efficacy of therapeutic soft contact lens in the management of gelatinous drop-like corneal dystrophy. 61
31023713 2020
25
Amyloidosis and Ocular Involvement: an Overview. 61
31829761 2019
26
Sutureless Customized Lamellar Corneal Transplant in a Patient with Gelatinous Drop-Like Corneal Dystrophy. 61
31324138 2019
27
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 61
31277131 2019
28
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
29
A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis. 61
31666974 2019
30
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation. 61
31534795 2019
31
Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy. 61
30204612 2018
32
A New in Vitro Model of GDLD by Knocking Out TACSTD2 and Its Paralogous Gene EpCAM in Human Corneal Epithelial Cells. 61
30619650 2018
33
Gelatinous drop-like corneal dystrophy: a review. 61
27913443 2017
34
Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD). 61
29988226 2017
35
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family. 61
27227392 2016
36
Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. 61
27149532 2016
37
Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy. 61
26990741 2016
38
Combined Excimer Laser Photoablation and Amniotic Membrane Overlay for Relief of Symptomatic Discomfort in Gelatinous Drop-like Corneal Dystrophy. 61
26203750 2015
39
Boston type I keratoprosthesis for treatment of gelatinous drop-like corneal dystrophy after repeated graft failure. 61
24117413 2015
40
Clinico-histopathological and biochemical analyses of corneal amyloidosis in gelatinous drop-like corneal dystrophy. 61
25402568 2015
41
Trop2: from development to disease. 61
25523132 2015
42
[Gelatinous drop-like corneal dystrophy]. 61
25455555 2015
43
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. 61
27081552 2015
44
Establishment of a human corneal epithelial cell line lacking the functional TACSTD2 gene as an in vitro model for gelatinous drop-like dystrophy. 61
23868985 2013
45
Limbal Stem Cell Transplantation for Gelatinous Drop-like Corneal Dystrophy. 61
23943684 2013
46
Establishment of a human conjunctival epithelial cell line lacking the functional TACSTD2 gene (an American Ophthalmological Society thesis). 61
23818740 2012
47
Gelatinous drop-like corneal dystrophy. 61
23038033 2012
48
Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report. 61
23471333 2012
49
Co-localisation of advanced glycation end products and D-β-aspartic acid-containing proteins in gelatinous drop-like corneal dystrophy. 61
22694960 2012
50
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. 61
22367041 2012

Variations for Corneal Dystrophy, Gelatinous Drop-Like

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TACSTD2 NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)SNV Pathogenic 16182 rs80358223 1:59042477-59042477 1:58576805-58576805
2 TACSTD2 NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)SNV Pathogenic 16183 rs80358224 1:59042210-59042210 1:58576538-58576538
3 TACSTD2 NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)SNV Pathogenic 16184 rs80358225 1:59042320-59042320 1:58576648-58576648
4 TACSTD2 NM_002353.3(TACSTD2):c.632del (p.Gln211fs)deletion Pathogenic 16185 1:59042197-59042197 1:58576525-58576525
5 TACSTD2 NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)SNV Pathogenic 16186 rs80358226 1:59042827-59042827 1:58577155-58577155
6 TACSTD2 NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)SNV Pathogenic 16187 rs80358227 1:59042474-59042474 1:58576802-58576802
7 TACSTD2 TACSTD2, 12-BP DEL/1-BP INS, NT772indel Pathogenic 16188
8 TACSTD2 NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)SNV Pathogenic 16189 rs80358228 1:59042272-59042272 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

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 9.1 TGFBI TACSTD2 LTF GSN COL8A2 C1QBP

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 TGFBI LTF GSN
2 visual perception GO:0007601 8.92 TGFBI TACSTD2 PRCD KRT12

Sources for Corneal Dystrophy, Gelatinous Drop-Like

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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