MCID: CRN106
MIFTS: 32

Corneal Dystrophy, Gelatinous Drop-Like malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Gelatinous Drop-Like

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 50 46 23 68 12 37
Gelatinous Drop-Like Corneal Dystrophy 11 46 13 52
Lattice Corneal Dystrophy Type Iii 23 68 25
Corneal Amyloidosis 11 46 68
Primary Familial Amyloidosis of the Cornea 11 52
Subepithelial Amyloidosis of the Cornea 11 52
Corneal Dystrophy, Lattice Type 3 46 66
Cdgdl 46 68
 
Gdcd 11 52
Gdld 46 68
Amyloid Corneal Dystrophy, Japanese Type 46
Amyloid Corneal Dystrophy Japanese Type 68
Lattice Corneal Dystrophy Type3 46
Amyloidosis, Corneal 48
Amyloidosis Corneal 46
Amyloid of Cornea 66

Characteristics:

Orphanet epidemiological data:

52
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood

HPO:

62
corneal dystrophy, gelatinous drop-like:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 204870
Disease Ontology11 DOID:0060449
Orphanet52 ORPHA98957
SNOMED-CT60 418946006
ICD10 via Orphanet29 H18.5
MESH via Orphanet38 C535480
UMLS via Orphanet67 C0339273
MedGen35 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

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UniProtKB/Swiss-Prot:68 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 gelatinous drop-like corneal dystrophy, is related to corneal dystrophy, lattice type iiia 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). Affiliated tissues include eye.

OMIM:50 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 the top 20 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:

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

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


Cochrane evidence based reviews: 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 Lattice Corneal Dystrophy Type Iii25
2 Corneal Dystrophy, Gelatinous Drop-Like23 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

34
Eye

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

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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 spaceGO:00056158.2GSN, LTF, TACSTD2, TGFBI
2extracellular exosomeGO:00700627.6GSN, KRT12, LTF, TACSTD2, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442678.9GSN, LTF, TGFBI
2visual perceptionGO:00076018.8KRT12, TACSTD2, TGFBI

Sources for Corneal Dystrophy, Gelatinous Drop-Like

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet