MCID: CRN106
MIFTS: 33

Corneal Dystrophy, Gelatinous Drop-Like malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Gelatinous Drop-Like

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 49 11 45 67
Corneal Dystrophy, Lattice Type 3 45 22 24 65
Gelatinous Drop-Like Corneal Dystrophy 45 22 51
Corneal Amyloidosis 45 67
Cdgdl 45 67
Gdld 45 67
Primary Familial Amyloidosis of the Cornea 51
Amyloid Corneal Dystrophy, Japanese Type 45
 
Amyloid Corneal Dystrophy Japanese Type 67
Subepithelial Amyloidosis of the Cornea 51
Lattice Corneal Dystrophy Type Iii 67
Lattice Corneal Dystrophy Type3 45
Amyloidosis, Corneal 47
Amyloidosis Corneal 45
Amyloid of Cornea 65
Gdcd 51


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood


External Ids:

OMIM49 204870
Orphanet51 98957
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535480
UMLS via Orphanet66 C0339273
MedGen34 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

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UniProtKB/Swiss-Prot:67 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 corneal dystrophy, lattice type 3, is related to corneal dystrophy and corneal dystrophy, lattice type iiia, and has symptoms including autosomal recessive inheritance, visual impairment 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 is RNA Polymerase I Promoter Opening. Affiliated tissues include eye, and related mouse phenotype homeostasis/metabolism.

OMIM:49 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

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



Diseases related to corneal dystrophy, gelatinous drop-like

Symptoms for Corneal Dystrophy, Gelatinous Drop-Like

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Symptoms by clinical synopsis from OMIM:

204870

Clinical features from OMIM:

204870

HPO human phenotypes related to Corneal Dystrophy, Gelatinous Drop-Like:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 photophobia HP:0000613
4 blurred vision HP:0000622
5 corneal dystrophy HP:0001131
6 reduced visual acuity HP:0007663
7 childhood onset HP:0011463

Drugs & Therapeutics for Corneal Dystrophy, Gelatinous Drop-Like

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Interventional clinical trials:

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

Genetic Tests for Corneal Dystrophy, Gelatinous Drop-Like

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

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Gelatinous Drop-Like22 TACSTD2
2 Lattice Corneal Dystrophy Type Iii24

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

33
Eye

Animal Models for Corneal Dystrophy, Gelatinous Drop-Like or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy, Gelatinous Drop-Like:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0GSN, LTF, TACSTD2, TGFBI

Publications for Corneal Dystrophy, Gelatinous Drop-Like

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Variations for Corneal Dystrophy, Gelatinous Drop-Like

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TACSTD2NM_002353.2(TACSTD2): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs80358223GRCh37Chr 1, 59042477: 59042477
2TACSTD2NM_002353.2(TACSTD2): c.619C> T (p.Gln207Ter)single nucleotide variantPathogenicrs80358224GRCh37Chr 1, 59042210: 59042210
3TACSTD2NM_002353.2(TACSTD2): c.509C> A (p.Ser170Ter)single nucleotide variantPathogenicrs80358225GRCh37Chr 1, 59042320: 59042320
4TACSTD2TACSTD2, 1-BP DEL, 632AdeletionPathogenic
5TACSTD2NM_002353.2(TACSTD2): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80358226GRCh37Chr 1, 59042827: 59042827
6TACSTD2NM_002353.2(TACSTD2): c.355T> A (p.Cys119Ser)single nucleotide variantPathogenicrs80358227GRCh37Chr 1, 59042474: 59042474
7TACSTD2TACSTD2, 12-BP DEL/1-BP INS, NT772indelPathogenic
8TACSTD2NM_002353.2(TACSTD2): c.557T> C (p.Leu186Pro)single nucleotide variantPathogenicrs80358228GRCh37Chr 1, 59042272: 59042272

Expression for genes affiliated with Corneal Dystrophy, Gelatinous Drop-Like

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

Pathways for genes affiliated with Corneal Dystrophy, Gelatinous Drop-Like

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GO Terms for genes affiliated with Corneal Dystrophy, Gelatinous Drop-Like

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.4GSN, LTF, TGFBI
2extracellular exosomeGO:00700628.0GSN, LTF, TACSTD2, TGFBI
3extracellular spaceGO:00056157.7GSN, LTF, TACSTD2, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.3TACSTD2, TGFBI
2cellular protein metabolic processGO:00442678.2GSN, LTF, TGFBI

Sources for Corneal Dystrophy, Gelatinous Drop-Like

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet