MCID: LTT005
MIFTS: 12

Lattice Corneal Dystrophy Type 3a malady

Genetic category

Summaries for Lattice Corneal Dystrophy Type 3a

Sources:
47OMIM, 33MalaCards
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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:47 608471

Aliases & Classifications for Lattice Corneal Dystrophy Type 3a

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Classifications:

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


Aliases & Descriptions:

lattice corneal dystrophy type 3a 43
lattice corneal dystrophy type iii a 43 20 22
familial amyloid polyneuropathy, type v 61
corneal dystrophy, lattice type iiia 47


Related Diseases for Lattice Corneal Dystrophy Type 3a

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

Sources:
47OMIM
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Clinical features from OMIM:

608471

Clinical synopsis from OMIM:

608471

Drugs & Therapeutics for Lattice Corneal Dystrophy Type 3a

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Lattice Corneal Dystrophy Type 3a

Drug clinical trials:

Search ClinicalTrials for Lattice Corneal Dystrophy Type 3a

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

Sources:
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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Lattice Corneal Dystrophy Type 3a

Genetic Variations for Lattice Corneal Dystrophy Type 3a

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Lattice Corneal Dystrophy Type 3a:

63
id Symbol AA change Variation SNP ID
1TGFBIp.Pro501ThrVAR_005079rs121909212
2TGFBIp.Ala546ThrVAR_012448
3TGFBIp.Asn622LysVAR_018486
4TGFBIp.Phe540SerVAR_031538

Expression for genes affiliated with Lattice Corneal Dystrophy Type 3a

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

Compounds for genes affiliated with Lattice Corneal Dystrophy Type 3a

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

Products for genes affiliated with Lattice Corneal Dystrophy Type 3a

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lattice Corneal Dystrophy Type 3a

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