MCID: CRN106
MIFTS: 38

Corneal Dystrophy, Gelatinous Drop-Like

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Gelatinous Drop-Like

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 53 49 71 13 41
Gelatinous Drop-Like Corneal Dystrophy 12 49 55 36 14
Corneal Amyloidosis 12 49 71
Cdgdl 53 49 71
Gdld 53 49 71
Primary Familial Amyloidosis of the Cornea 12 55
Amyloid Corneal Dystrophy, Japanese Type 53 49
Subepithelial Amyloidosis of the Cornea 12 55
Lattice Corneal Dystrophy Type Iii 71 28
Corneal Dystrophy, Lattice Type 3 49 69
Amyloidosis, Corneal 53 51
Gdcd 12 55
Amyloid Corneal Dystrophy Japanese Type 71
Corneal Dystrophy, Lattice Type Iii 53
Lattice Corneal Dystrophy, Type Iii 53
Lattice Corneal Dystrophy Type3 49
Amyloidosis Corneal 49
Amyloid of Cornea 69

Characteristics:

Orphanet epidemiological data:

55
gelatinous drop-like corneal dystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 204870
Disease Ontology 12 DOID:0060449
SNOMED-CT 64 418946006
Orphanet 55 ORPHA98957
MESH via Orphanet 42 C535480
UMLS via Orphanet 70 C0339273
ICD10 via Orphanet 33 H18.5
MedGen 39 C0339273
KEGG 36 H00953

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

NIH Rare Diseases : 49 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. Last updated: 5/1/2012

MalaCards based summary : Corneal Dystrophy, Gelatinous Drop-Like, also known as gelatinous drop-like corneal dystrophy, is related to amyloidosis and corneal dystrophy, and has symptoms including visual impairment, photophobia and blurred vision. 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 : 53 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 : 71 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
lacrimation (early symptom)
blurred vision (early symptom)
photophobia (early symptom)
foreign-body sensation (early symptom)
decreased visual acuity
more

Clinical features from OMIM:

204870

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

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 photophobia 31 HP:0000613
3 blurred vision 31 HP:0000622
4 corneal dystrophy 31 HP:0001131
5 reduced visual acuity 31 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:

# Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type Iii 28 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

38
Eye

Publications for Corneal Dystrophy, Gelatinous Drop-Like

Articles related to Corneal Dystrophy, Gelatinous Drop-Like:

(show all 35)
# Title Authors Year
1
Gelatinous drop-like corneal dystrophy: a review. ( 27913443 )
2017
2
Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. ( 27149532 )
2016
3
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family. ( 27227392 )
2016
4
Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy. ( 26990741 )
2016
5
Clinico-histopathological and biochemical analyses of corneal amyloidosis in gelatinous drop-like corneal dystrophy. ( 25402568 )
2014
6
Boston Type I Keratoprosthesis for Treatment of Gelatinous Drop-Like Corneal Dystrophy After Repeated Graft Failure. ( 24117413 )
2013
7
Limbal Stem Cell Transplantation for Gelatinous Drop-like Corneal Dystrophy. ( 23943684 )
2013
8
Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report. ( 23471333 )
2012
9
Boston type I keratoprosthesis for visual rehabilitation in a patient with gelatinous drop-like corneal dystrophy. ( 22367041 )
2012
10
Co-localisation of advanced glycation end products and D-I^-aspartic acid-containing proteins in gelatinous drop-like corneal dystrophy. ( 22694960 )
2012
11
Gelatinous drop-like corneal dystrophy. ( 23038033 )
2012
12
Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization. ( 21541270 )
2011
13
Clinical and basic aspects of gelatinous drop-like corneal dystrophy. ( 21540633 )
2011
14
Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient. ( 20806038 )
2010
15
Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy. ( 21052915 )
2010
16
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. ( 20454699 )
2010
17
Morphological and histopathological changes in gelatinous drop-like corneal dystrophy during a 15-year follow-up. ( 19799588 )
2010
18
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
19
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy. ( 19693293 )
2009
20
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families. ( 17653040 )
2007
21
Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy. ( 17325151 )
2007
22
[Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy]. ( 16610095 )
2006
23
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. ( 17167402 )
2006
24
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. ( 15254496 )
2005
25
A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan. ( 15183793 )
2004
26
Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. ( 15295654 )
2004
27
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. ( 12107443 )
2002
28
Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. ( 10928776 )
2000
29
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
30
Identification of the gene responsible for gelatinous drop-like corneal dystrophy. ( 10192395 )
1999
31
Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. ( 9758629 )
1998
32
Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. ( 9860011 )
1998
33
Histopathology of recurrent gelatinous drop-like corneal dystrophy. ( 9520202 )
1998
34
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. ( 9873069 )
1998
35
A case of one eye with gelatinous drop-like corneal dystrophy and the other eye with band-shaped spheroidal corneal degeneration. ( 7746654 )
1995

Variations for Corneal Dystrophy, Gelatinous Drop-Like

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

6
# 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:

# 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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