MCID: LTT005
MIFTS: 18

Lattice Corneal Dystrophy Type 3a malady

Genetic diseases category

Summaries for Lattice Corneal Dystrophy Type 3a

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46OMIM, 32MalaCards
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MalaCards: Lattice Corneal Dystrophy Type 3a, also known as lattice corneal dystrophy type iii a, is related to lattice corneal dystrophy and finnish type amyloidosis. An important gene associated with Lattice Corneal Dystrophy Type 3a is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:46 608471

Aliases & Classifications for Lattice Corneal Dystrophy Type 3a

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

lattice corneal dystrophy type 3a 42
lattice corneal dystrophy type iii a 42 20 22
familial amyloid polyneuropathy, type v 60
corneal dystrophy, lattice type iiia 46


Related Diseases for Lattice Corneal Dystrophy Type 3a

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Lattice Corneal Dystrophy Type 1 family:

Lattice Corneal Dystrophy lattice corneal dystrophy type 3a
Lattice Corneal Dystrophy Type Ii

Diseases related to Lattice Corneal Dystrophy Type 3a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lattice corneal dystrophy10.3
2finnish type amyloidosis10.3
3lattice corneal dystrophy type 110.3

Clinical Features for Lattice Corneal Dystrophy Type 3a

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46OMIM
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Clinical features from OMIM:

608471

Clinical synopsis from OMIM:

608471

Drugs & Therapeutics for Lattice Corneal Dystrophy Type 3a

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lattice Corneal Dystrophy Type 3a

Search CenterWatch for Lattice Corneal Dystrophy Type 3a

Genetic Tests for Lattice Corneal Dystrophy Type 3a

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20GeneTests, 22GTR
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Genetic tests related to Lattice Corneal Dystrophy Type 3a:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type Iiia20 TGFBI
2 Lattice Corneal Dystrophy Type 3a22

Anatomical Context for Lattice Corneal Dystrophy Type 3a

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Animal Models for Lattice Corneal Dystrophy Type 3a or affiliated genes

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Publications for Lattice Corneal Dystrophy Type 3a

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Genetic Variations for Lattice Corneal Dystrophy Type 3a

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Lattice Corneal Dystrophy Type 3a:

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Pro501ThrVAR_005079rs121909212
2TGFBIp.Ala546ThrVAR_012448
3TGFBIp.Asn622LysVAR_018486
4TGFBIp.Phe540SerVAR_031538

Expression for genes affiliated with Lattice Corneal Dystrophy Type 3a

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lattice Corneal Dystrophy Type 3a

Search GEO for disease gene expression data for Lattice Corneal Dystrophy Type 3a.

Pathways for genes affiliated with Lattice Corneal Dystrophy Type 3a

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Compounds for genes affiliated with Lattice Corneal Dystrophy Type 3a

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GO Terms for genes affiliated with Lattice Corneal Dystrophy Type 3a

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Products for genes affiliated with Lattice Corneal Dystrophy Type 3a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lattice Corneal Dystrophy Type 3a

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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