MCID: CRN106
MIFTS: 22

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:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 22GTR, 61UMLS, 48Orphanet, 20GeneTests, 44Novoseek, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 46 9 42
Gelatinous Drop-Like Corneal Dystrophy 42 20 48
Corneal Dystrophy, Lattice Type 3 42 22 61
Primary Familial Amyloidosis of the Cornea 42 48
Subepithelial Amyloidosis of the Cornea 42 48
Gdcd 42 48
Amyloid Corneal Dystrophy, Japanese Type 42
 
Lattice Corneal Dystrophy Type3 42
Amyloidosis, Corneal 44
Corneal Amyloidosis 42
Amyloidosis Corneal 42
Amyloid of Cornea 61
Cdgdl 42
Gdld 42


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood


External Ids:

OMIM46 204870
Orphanet48 98957
MESH via Orphanet34 C535480
ICD10 via Orphanet26 H18.5
UMLS via Orphanet62 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

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OMIM:46 Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis... (204870) more...

MalaCards based summary: Corneal Dystrophy, Gelatinous Drop-Like, also known as gelatinous drop-like corneal dystrophy, is related to corneal dystrophy and corneal degeneration, and has symptoms including autosomal recessive inheritance, 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.

Related Diseases for Corneal Dystrophy, Gelatinous Drop-Like

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

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy10.6
2corneal degeneration10.5
3amyloidosis10.2
4keratitis10.1
5lattice corneal dystrophy10.1

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:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 photophobia HP:0000613
3 blurred vision HP:0000622
4 corneal dystrophy HP:0001131
5 childhood onset HP:0011463

Drugs & Therapeutics for Corneal Dystrophy, Gelatinous Drop-Like

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Gelatinous Drop-Like

Search 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-Like20 TACSTD2
2 Lattice Corneal Dystrophy Type Iii22

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

31
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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Compounds 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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Sources for Corneal Dystrophy, Gelatinous Drop-Like

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet