GDCD
MCID: AMY013
MIFTS: 35

Amyloidosis Corneal (GDCD) malady

Eye diseases, Genetic diseases categories

Summaries for Amyloidosis Corneal

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46OMIM, 32MalaCards
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MalaCards: Amyloidosis Corneal, also known as corneal dystrophy, gelatinous drop-like, is related to amyloidosis and corneal dystrophy. An important gene associated with Amyloidosis Corneal is TACSTD2 (tumor-associated calcium signal transducer 2), and among its related pathways are Packaging Of Telomere Ends and Disease. The compounds cytochalasin b and azathioprine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:46 204870

Aliases & Classifications for Amyloidosis Corneal

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
primary familial amyloidosis of the cornea:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

amyloidosis corneal 42
corneal dystrophy, gelatinous drop-like 42 20 46
corneal dystrophy, lattice type 3 42 22
primary familial amyloidosis of the cornea 48
amyloid corneal dystrophy, japanese type 42
subepithelial amyloidosis of the cornea 48
gelatinous drop-like corneal dystrophy 48
amyloidosis, corneal 44
corneal amyloidosis 42
cdgdl 42
gdcd 48


External Ids:

OMIM46 204870
MESH via Orphanet35 C535480
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 418946006
UMLS via Orphanet61 C0339273

Related Diseases for Amyloidosis Corneal

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17GeneCards, 18GeneDecks
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Diseases related to Amyloidosis Corneal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.0GSN
2corneal dystrophy29.9GSN, TACSTD2, TGFBI
3lattice corneal dystrophy29.9GSN, TGFBI, TACSTD2
4corneal degeneration10.6
5keratitis10.0
6colon cancer10.0LTF
7ovarian cancer10.0GSN
8prostatitis10.0LTF
9renal clear cell carcinoma10.0GSN
10recurrent corneal erosion10.0TGFBI
11prostate cancer10.0GSN
12pancreatitis10.0LTF
13lattice corneal dystrophy type 110.0TGFBI, GSN
14corneal disease10.0TGFBI, GSN
15amyloid tumor10.0LTF, GSN, TGFBI
16keratoconus10.0GSN, TGFBI
17colorectal cancer10.0LTF, GSN, TGFBI
18adenocarcinoma10.0TACSTD2, TGFBI, GSN

Graphical network of diseases related to Amyloidosis Corneal:



Diseases related to amyloidosis corneal

Clinical Features for Amyloidosis Corneal

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46OMIM
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Clinical features from OMIM:

204870

Clinical synopsis from OMIM:

204870

Drugs & Therapeutics for Amyloidosis Corneal

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Amyloidosis Corneal

Drug clinical trials:

Search ClinicalTrials for Amyloidosis Corneal

Search NIH Clinical Center for Amyloidosis Corneal

Search CenterWatch for Amyloidosis Corneal

Genetic Tests for Amyloidosis Corneal

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20GeneTests, 22GTR
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Genetic tests related to Amyloidosis Corneal:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Gelatinous Drop-Like20 TACSTD2
2 Lattice Corneal Dystrophy Type Iii22

Anatomical Context for Amyloidosis Corneal

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32MalaCards
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MalaCards organs/tissues related to Amyloidosis Corneal:

32
Eye

Animal Models for Amyloidosis Corneal or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Amyloidosis Corneal:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0TGFBI, GSN, TACSTD2, LTF

Publications for Amyloidosis Corneal

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Genetic Variations for Amyloidosis Corneal

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Expression for genes affiliated with Amyloidosis Corneal

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis Corneal

Search GEO for disease gene expression data for Amyloidosis Corneal.

Pathways for genes affiliated with Amyloidosis Corneal

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53Reactome
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Pathways related to Amyloidosis Corneal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0TGFBI, GSN
28.5TGFBI, GSN, LTF

Compounds for genes affiliated with Amyloidosis Corneal

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Sources:
44Novoseek, 49PharmGKB, 2BitterDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Amyloidosis Corneal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cytochalasin b449.5LTF, GSN
2azathioprine44 49 2 1112.5GSN, LTF
3latex449.5GSN, LTF
4cytochalasin d44 5910.4LTF, GSN
5phosphatidylserine44 28 1111.3LTF, GSN
6endotoxin449.2LTF, GSN
7fmlp449.0LTF, GSN
8aspartate449.0TACSTD2, GSN, LTF
9alanine448.9GSN, TACSTD2, LTF
10cysteine448.5LTF, GSN, TGFBI

GO Terms for genes affiliated with Amyloidosis Corneal

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Sources:
16Gene Ontology
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Cellular components related to Amyloidosis Corneal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.7TGFBI, GSN
2extracellular spaceGO:0056158.5TGFBI, GSN, TACSTD2

Biological processes related to Amyloidosis Corneal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.1TGFBI, TACSTD2

Products for genes affiliated with Amyloidosis Corneal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis Corneal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet