GDLD
MCID: CRN106
MIFTS: 31

Corneal Dystrophy, Gelatinous Drop-Like (GDLD) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 52 48 24 70 12 39
Gelatinous Drop-Like Corneal Dystrophy 11 48 54 13
Lattice Corneal Dystrophy Type Iii 24 70 27
Corneal Amyloidosis 11 48 70
Primary Familial Amyloidosis of the Cornea 11 54
Subepithelial Amyloidosis of the Cornea 11 54
Corneal Dystrophy, Lattice Type 3 48 68
Cdgdl 48 70
 
Gdld 48 70
Gdcd 11 54
Amyloid Corneal Dystrophy, Japanese Type 48
Amyloid Corneal Dystrophy Japanese Type 70
Lattice Corneal Dystrophy Type3 48
Amyloidosis, Corneal 50
Amyloidosis Corneal 48
Amyloid of Cornea 68

Characteristics:

Orphanet epidemiological data:

54
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Childhood

HPO:

64
corneal dystrophy, gelatinous drop-like:
Inheritance: autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 204870
Disease Ontology11 DOID:0060449
Orphanet54 ORPHA98957
SNOMED-CT62 418946006
MESH via Orphanet40 C535480
UMLS via Orphanet69 C0339273
ICD10 via Orphanet31 H18.5
MedGen37 C0339273

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

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UniProtKB/Swiss-Prot:70 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), and among its related pathways are Adhesion and Ca, cAMP and Lipid Signaling. Affiliated tissues include eye.

OMIM:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 photophobia64 HP:0000613
3 blurred vision64 HP:0000622
4 corneal dystrophy64 HP:0001131
5 reduced visual acuity64 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 Iii27
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:

36
Eye

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, 632AdeletionPathogenic
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, NT772indelPathogenic
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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Pathways related to Corneal Dystrophy, Gelatinous Drop-Like according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6TACSTD2, TGFBI
29.5GSN, TACSTD2

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:00700628.4GSN, 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:00442679.5GSN, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet