MCID: CRN106
MIFTS: 29

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 51 47 24 69 12 38
Gelatinous Drop-Like Corneal Dystrophy 11 47 53 13
Lattice Corneal Dystrophy Type Iii 24 69 26
Corneal Amyloidosis 11 47 69
Primary Familial Amyloidosis of the Cornea 11 53
Subepithelial Amyloidosis of the Cornea 11 53
Corneal Dystrophy, Lattice Type 3 47 67
Cdgdl 47 69
 
Gdld 47 69
Gdcd 11 53
Amyloid Corneal Dystrophy, Japanese Type 47
Amyloid Corneal Dystrophy Japanese Type 69
Lattice Corneal Dystrophy Type3 47
Amyloidosis, Corneal 49
Amyloidosis Corneal 47
Amyloid of Cornea 67

Characteristics:

Orphanet epidemiological data:

53
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood

HPO:

63
corneal dystrophy, gelatinous drop-like:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 204870
Disease Ontology11 DOID:0060449
Orphanet53 ORPHA98957
SNOMED-CT61 418946006
MESH via Orphanet39 C535480
UMLS via Orphanet68 C0339273
ICD10 via Orphanet30 H18.5
MedGen36 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

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UniProtKB/Swiss-Prot:69 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 amyloidosis, 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:51 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

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

 63
id Description HPO Frequency HPO Source Accession
1 visual impairment63 HP:0000505
2 photophobia63 HP:0000613
3 blurred vision63 HP:0000622
4 corneal dystrophy63 HP:0001131
5 reduced visual acuity63 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 Iii26
2 Corneal Dystrophy, Gelatinous Drop-Like24 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

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

35
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)SNVPathogenicrs80358223GRCh37Chr 1, 59042477: 59042477
2TACSTD2NM_002353.2(TACSTD2): c.619C> T (p.Gln207Ter)SNVPathogenicrs80358224GRCh37Chr 1, 59042210: 59042210
3TACSTD2NM_002353.2(TACSTD2): c.509C> A (p.Ser170Ter)SNVPathogenicrs80358225GRCh37Chr 1, 59042320: 59042320
4TACSTD2TACSTD2, 1-BP DEL, 632AdeletionPathogenicChr na, -1: -1
5TACSTD2NM_002353.2(TACSTD2): c.2T> G (p.Met1Arg)SNVPathogenicrs80358226GRCh37Chr 1, 59042827: 59042827
6TACSTD2NM_002353.2(TACSTD2): c.355T> A (p.Cys119Ser)SNVPathogenicrs80358227GRCh37Chr 1, 59042474: 59042474
7TACSTD2TACSTD2, 12-BP DEL/1-BP INS, NT772indelPathogenicChr na, -1: -1
8TACSTD2NM_002353.2(TACSTD2): c.557T> C (p.Leu186Pro)SNVPathogenicrs80358228GRCh37Chr 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:00056158.5GSN, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet