MCID: LTT005
MIFTS: 16

Lattice Corneal Dystrophy Type 3a malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Lattice Corneal Dystrophy Type 3a

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Sources:
48OMIM, 34MalaCards
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MalaCards: Lattice Corneal Dystrophy Type 3a, is also known as lattice corneal dystrophy type iii a An important gene associated with Lattice Corneal Dystrophy Type 3a is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:48 608471

Aliases & Classifications for Lattice Corneal Dystrophy Type 3a

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

lattice corneal dystrophy type 3a 44
lattice corneal dystrophy type iii a 44 21 23
familial amyloid polyneuropathy, type v 63
corneal dystrophy, lattice type iiia 48


Related Diseases for Lattice Corneal Dystrophy Type 3a

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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

Symptoms for Lattice Corneal Dystrophy Type 3a

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

608471

Clinical features from OMIM:

608471

Drugs & Therapeutics for Lattice Corneal Dystrophy Type 3a

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Lattice Corneal Dystrophy Type 3a:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type Iiia21 TGFBI
2 Lattice Corneal Dystrophy Type 3a23

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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Variations for Lattice Corneal Dystrophy Type 3a

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Lattice Corneal Dystrophy Type 3a:

65
id Symbol AA change Variation ID SNP ID
1TGFBIp.Pro501ThrVAR_005079rs121909212
2TGFBIp.Ala546ThrVAR_012448
3TGFBIp.Asn622LysVAR_018486
4TGFBIp.Phe540SerVAR_031538

Clinvar genetic disease variations for Lattice Corneal Dystrophy Type 3a:

1
id Gene Name Type Significance SNP ID Assembly Location
1TGFBINM_000358.2(TGFBI): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs121909212GRCh37Chr 5, 135391459: 135391459
2TGFBINM_000358.2(TGFBI): c.1619T> C (p.Phe540Ser)single nucleotide variantPathogenicrs121909214GRCh37Chr 5, 135392425: 135392425

Expression for genes affiliated with Lattice Corneal Dystrophy Type 3a

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet