MCID: CRN106
MIFTS: 32

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 54 50 24 71 13 42
Gelatinous Drop-Like Corneal Dystrophy 12 50 56 14
Lattice Corneal Dystrophy Type Iii 24 71 29
Corneal Amyloidosis 12 50 71
Primary Familial Amyloidosis of the Cornea 12 56
Subepithelial Amyloidosis of the Cornea 12 56
Corneal Dystrophy, Lattice Type 3 50 69
Cdgdl 50 71
Gdcd 12 56
Gdld 50 71
Amyloid Corneal Dystrophy, Japanese Type 50
Amyloid Corneal Dystrophy Japanese Type 71
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;

OMIM:

54
Miscellaneous:
onset in childhood
incidence 1 in 300,000 in japan

Inheritance:
autosomal recessive


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

NIH Rare Diseases : 50 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 corneal dystrophy, lattice type iiia and corneal dystrophy, and has symptoms including visual impairment, reduced visual acuity and photophobia. 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.

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.

OMIM : 54
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)

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:

54

Head And Neck- Eyes:
decreased visual acuity
raised, yellowish-gray gelatinous masses (subepithelium and anterior stroma)
foreign-body sensation (early symptom)
photophobia (early symptom)
blurred vision (early symptom)
more

Clinical features from OMIM:

204870

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

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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....