GDCD
MCID: AMY013
MIFTS: 27

Amyloidosis Corneal (GDCD) malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Amyloidosis Corneal

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OMIM:46 Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis... (204870) more...

MalaCards based summary: Amyloidosis Corneal, also known as gelatinous drop-like corneal dystrophy, is related to corneal degeneration and amyloidosis, and has symptoms including autosomal recessive inheritance, photophobia and blurred vision. An important gene associated with Amyloidosis Corneal is TACSTD2 (tumor-associated calcium signal transducer 2). Affiliated tissues include eye.

Aliases & Classifications for Amyloidosis Corneal

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Sources:
42NIH Rare Diseases, 61UMLS, 46OMIM, 23GTR, 21GeneTests, 48Orphanet, 44Novoseek, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Amyloidosis Corneal, Aliases & Descriptions:

Name: Amyloidosis Corneal 42
Gelatinous Drop-Like Corneal Dystrophy 42 21 48
Primary Familial Amyloidosis of the Cornea 48 61
Corneal Dystrophy, Gelatinous Drop-Like 42 46
Corneal Dystrophy, Lattice Type 3 42 23
Lattice Corneal Dystrophy Type3 42 61
Amyloidosis, Corneal 44 61
 
Cdgdl 42 61
Gdld 42 61
Amyloid Corneal Dystrophy, Japanese Type 42
Subepithelial Amyloidosis of the Cornea 48
Corneal Amyloidosis 42
Gdcd 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
gelatinous drop-like corneal dystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


External Ids:

MESH via Orphanet35 C535480
ICD10 via Orphanet27 H18.5
UMLS via Orphanet62 C0339273
OMIM46 204870

Related Diseases for Amyloidosis Corneal

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

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

Graphical network of diseases related to Amyloidosis Corneal:



Diseases related to amyloidosis corneal

Symptoms for Amyloidosis Corneal

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Symptoms by clinical synopsis from OMIM:

204870

Clinical features from OMIM:

204870

HPO human phenotypes related to Amyloidosis Corneal:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 photophobia HP:0000613
3 blurred vision HP:0000622
4 corneal dystrophy HP:0001131
5 childhood onset HP:0011463

Drugs & Therapeutics for Amyloidosis Corneal

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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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Genetic tests related to Amyloidosis Corneal:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Gelatinous Drop-Like21 TACSTD2
2 Lattice Corneal Dystrophy Type Iii23

Anatomical Context for Amyloidosis Corneal

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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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Publications for Amyloidosis Corneal

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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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Clinvar genetic disease variations for Amyloidosis Corneal:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Amyloidosis Corneal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet