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

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 67UniProtKB/Swiss-Prot, 36MeSH, 10Disease Ontology, 12DISEASES, 51Orphanet, 65UMLS, 24GTR, 47Novoseek, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Corneal Dystrophy, Gelatinous Drop-Like 49 11 45 22 67 36
Gelatinous Drop-Like Corneal Dystrophy 10 45 12 51
Lattice Corneal Dystrophy Type Iii 22 67 24
Corneal Amyloidosis 10 45 67
Primary Familial Amyloidosis of the Cornea 10 51
Subepithelial Amyloidosis of the Cornea 10 51
Corneal Dystrophy, Lattice Type 3 45 65
Cdgdl 45 67
 
Gdld 45 67
Gdcd 10 51
Amyloid Corneal Dystrophy, Japanese Type 45
Amyloid Corneal Dystrophy Japanese Type 67
Lattice Corneal Dystrophy Type3 45
Amyloidosis, Corneal 47
Amyloidosis Corneal 45
Amyloid of Cornea 65

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
corneal dystrophy, gelatinous drop-like:
Onset and clinical course: childhood onset
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 204870
Disease Ontology10 DOID:0060449
ICD1027 H18.5
Orphanet51 98957
ICD10 via Orphanet28 H18.5
MESH via Orphanet37 C535480
UMLS via Orphanet66 C0339273
MedGen34 C0339273
UMLS65 C0339273, C2939149

Summaries for Corneal Dystrophy, Gelatinous Drop-Like

About this section
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 gelatinous drop-like corneal dystrophy, is related to corneal dystrophy, lattice type iiia and lennox-gastaut syndrome, and has symptoms including reduced visual acuity, corneal dystrophy 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: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

About this section

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, lattice type iiia32.4CHST6, TGFBI
2lennox-gastaut syndrome10.6
3lactic acidosis10.5
4breast cancer10.4
5metachromatic leukodystrophy10.4
6fabry disease10.4
7atherosclerosis10.4
8gastric cancer10.4
9leukemia10.4
10male infertility10.4
11ulcerative colitis10.4
12tooth agenesis10.4
13fibroma10.4
14peripheral neuropathy10.4
15colitis10.4
16leukodystrophy10.4
17onchocerciasis10.4
18lymphogranuloma venereum10.4
19ossifying fibroma10.4
20granular cell tumor10.4
21takayasu's arteritis10.4
22congenital myasthenic syndrome10.4
23syphilis10.4
24infertility10.4
25neuronitis10.4
26polycythemia10.4
27neuropathy10.4
28psoriasis10.4
29slow-channel congenital myasthenic syndrome10.4
30osteoporotic fracture10.4
31ischemia10.3
32pre-eclampsia10.3
33severe pre-eclampsia10.3
34eclampsia10.3
35corneal dystrophy, reis-bucklers type10.0GSN, TGFBI
36corneal dystrophy, avellino type9.9TACSTD2, TGFBI
37eczema herpeticum9.9GSN, TGFBI
38ovarian cancer9.9
39drug rash with eosinophilia and systemic symptoms9.9
40corneal abscess9.8KRT12, TGFBI
41severe nonproliferative diabetic retinopathy9.8GSN, TACSTD2, TGFBI
42cough variant asthma9.8KRT12, TGFBI
43epithelial-stromal tgfbi dystrophy9.6KRT12, TACSTD2, TGFBI
44epidermolysis bullosa simplex, koebner type9.5CHST6, KRT12
45stromal dystrophy9.5CHST6, GSN, TACSTD2, TGFBI
46otosclerosis 49.2CHST6, GSN, KRT12, TACSTD2
47fuchs' endothelial dystrophy9.0CHST6, GSN, KRT12, TACSTD2, TGFBI
48corneal dystrophy, epithelial basement membrane9.0CHST6, GSN, KRT12, TACSTD2, TGFBI
49cirrhosis, north american indian childhood type9.0CHST6, GSN, KRT12, TACSTD2, TGFBI
50acute hydrops keratoconus9.0CHST6, GSN, KRT12, TACSTD2, TGFBI

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

About this section

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 reduced visual acuity HP:0007663
2 corneal dystrophy HP:0001131
3 blurred vision HP:0000622
4 photophobia HP:0000613
5 visual impairment HP:0000505

Drugs & Therapeutics for Corneal Dystrophy, Gelatinous Drop-Like

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Gelatinous Drop-Like22 TACSTD2

Anatomical Context for Corneal Dystrophy, Gelatinous Drop-Like

About this section

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

33
Eye

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

About this section

Publications for Corneal Dystrophy, Gelatinous Drop-Like

About this section

Variations for Corneal Dystrophy, Gelatinous Drop-Like

About this section

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

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

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

About this section

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

About this section

Sources for Corneal Dystrophy, Gelatinous Drop-Like

About this section
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