GDCD
MCID: AMY013
MIFTS: 32

Amyloidosis Corneal (GDCD) malady

Eye, Genetic categories

Summaries for Amyloidosis Corneal

Sources:
47OMIM, 33MalaCards
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MalaCards: Amyloidosis Corneal, also known as corneal dystrophy, gelatinous drop-like, is related to amyloidosis and lattice 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. Related mouse phenotype homeostasis/metabolism.

Description from OMIM:47 204870

Aliases & Classifications for Amyloidosis Corneal

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
primary familial amyloidosis of the cornea:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

amyloidosis corneal 43
corneal dystrophy, gelatinous drop-like 43 20 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
gelatinous drop-like corneal dystrophy 49
amyloidosis, corneal 45
corneal amyloidosis 43
cdgdl 43
gdcd 49


External Ids:

OMIM47 204870
MESH via Orphanet36 C535480
ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet58 418946006
UMLS via Orphanet62 C0339273

Related Diseases for Amyloidosis Corneal

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Amyloidosis Corneal:



Diseases related to amyloidosis corneal

Clinical Features for Amyloidosis Corneal

Sources:
47OMIM
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Clinical features from OMIM:

204870

Clinical synopsis from OMIM:

204870

Drugs & Therapeutics for Amyloidosis Corneal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Animal Models for Amyloidosis Corneal or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Amyloidosis Corneal:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0TGFBI, GSN, TACSTD2, LTF

Publications for Amyloidosis Corneal

Sources:
51PubMed
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Articles related to Amyloidosis Corneal:

(show all 23)
idTitleAuthorsYear
1
Classification of secondary corneal amyloidosis and involvement of lactoferrin. (23453509)
2013
2
A woman with amyloidosis, corneal dystrophy, and pruritic vesicular eruptions. (23317993)
2013
3
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. (21743312)
2011
4
TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis. (17982422)
2007
5
Keratoepithelin in secondary corneal amyloidosis. (16331487)
2006
6
BIG-H3 protein: mutation of codon 124 and corneal amyloidosis]. (15179309)
2004
7
Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. (15177960)
2004
8
A case of corneal lactoferrin amyloidosis secondary to trichiasis]. (12647336)
2003
9
Localised corneal amyloidosis associated with herpetic keratitis. (12881358)
2003
10
Secondary amyloidosis in a corneal graft. (12063041)
2002
11
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). (11222521)
2001
12
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. (10837380)
2000
13
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. (10729296)
2000
14
Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. (9873069)
1998
15
A histopathological study of corneal amyloidosis secondary to trichiasis]. (8651059)
1996
16
Idiopathic AA amyloidosis manifested by autonomic neuropathy, vestibulocochleopathy, and lattice corneal dystrophy. (8201343)
1994
17
An immunohistochemical study of gelsolin immunoreactivity in corneal amyloidosis. (1315488)
1992
18
Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). (1923356)
1991
19
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. (1658654)
1991
20
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). (6610849)
1983
21
Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis. (305513)
1978
22
Primary familial corneal amyloidosis (lattice corneal dystrophy). (5298242)
1967
23
Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. (4163628)
1967

Genetic Variations for Amyloidosis Corneal

Expression for genes affiliated with Amyloidosis Corneal

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

Sources:
54Reactome
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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

Sources:
45Novoseek, 50PharmGKB, 2BitterDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Amyloidosis Corneal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cytochalasin b459.5LTF, GSN
2azathioprine45 50 2 1112.5GSN, LTF
3latex459.5GSN, LTF
4cytochalasin d45 6010.4LTF, GSN
5phosphatidylserine45 29 1111.3LTF, GSN
6endotoxin459.2LTF, GSN
7fmlp459.0LTF, GSN
8aspartate459.0TACSTD2, GSN, LTF
9alanine458.9GSN, TACSTD2, LTF
10cysteine458.5LTF, GSN, TGFBI

GO Terms for genes affiliated with Amyloidosis Corneal

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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  • Lysates
  • Antibodies

Sources for Amyloidosis Corneal

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet