GDCD
MCID: AMY013
MIFTS: 25

Amyloidosis Corneal (GDCD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Amyloidosis Corneal

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Sources:
47OMIM, 33MalaCards
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MalaCards: Amyloidosis Corneal, also known as gelatinous drop-like corneal dystrophy, is related to corneal degeneration and lattice corneal dystrophy. An important gene associated with Amyloidosis Corneal is TACSTD2 (tumor-associated calcium signal transducer 2). Affiliated tissues include eye.

Description from OMIM:47 204870

Aliases & Classifications for Amyloidosis Corneal

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

amyloidosis corneal 43
gelatinous drop-like corneal dystrophy 43 20 49
corneal dystrophy, gelatinous drop-like 43 47
corneal dystrophy, lattice type 3 43 22
primary familial amyloidosis of the cornea 49
amyloid corneal dystrophy, japanese type 43
subepithelial amyloidosis of the cornea 49
lattice corneal dystrophy type3 43
amyloidosis, corneal 45
corneal amyloidosis 43
cdgdl 43
gdcd 49
gdld 43


External Ids:

OMIM47 204870
MESH via Orphanet36 C535480
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet59 418946006
UMLS via Orphanet63 C0339273

Related Diseases for Amyloidosis Corneal

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

idRelated DiseaseScoreTop Affiliating Genes
1corneal degeneration10.4
2lattice corneal dystrophy10.0
3amyloidosis10.0
4corneal dystrophy10.0
5keratitis10.0
6amyloidosis, secondary10.0

Graphical network of diseases related to Amyloidosis Corneal:



Diseases related to amyloidosis corneal

Symptoms for Amyloidosis Corneal

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47OMIM
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Symptoms by clinical synopsis from OMIM:

204870

Clinical features from OMIM:

204870

Drugs & Therapeutics for Amyloidosis Corneal

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Amyloidosis Corneal

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Amyloidosis Corneal:

33
Eye

Animal Models for Amyloidosis Corneal or affiliated genes

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Publications for Amyloidosis Corneal

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Sources:
52PubMed
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Articles related to Amyloidosis Corneal:

idTitleAuthorsYear
1
A woman with amyloidosis, corneal dystrophy, and pruritic vesicular eruptions. (23317993)
2013

Variations for Amyloidosis Corneal

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Amyloidosis Corneal:

1
id Gene Name 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 Amyloidosis Corneal

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Sources:
2BioGPS, 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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Compounds for genes affiliated with Amyloidosis Corneal

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GO Terms for genes affiliated with Amyloidosis Corneal

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Products for genes affiliated with Amyloidosis Corneal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis Corneal

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet