MCID: CRN160
MIFTS: 16

Corneal Dystrophy, Lattice Type Iiia malady

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type Iiia

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Corneal Dystrophy, Lattice Type Iiia, Aliases & Descriptions:

Name: Corneal Dystrophy, Lattice Type Iiia 45 10
Lattice Corneal Dystrophy Type Iii a 41 20 22
 
Lattice Corneal Dystrophy Type 3a 41


Classifications:

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


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OMIM45 608471

Summaries for Corneal Dystrophy, Lattice Type Iiia

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MalaCards based summary: Corneal Dystrophy, Lattice Type Iiia, is also known as lattice corneal dystrophy type iii a, and has symptoms including autosomal dominant inheritance, visual impairment and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Lattice Type Iiia is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:45 608471

Related Diseases for Corneal Dystrophy, Lattice Type Iiia

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Diseases in the Lattice Corneal Dystrophy family:

Corneal Dystrophy, Lattice Type I corneal dystrophy, lattice type iiia
Lattice Corneal Dystrophy Type Ii

Symptoms for Corneal Dystrophy, Lattice Type Iiia

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Symptoms by clinical synopsis from OMIM:

608471

Clinical features from OMIM:

608471

HPO human phenotypes related to Corneal Dystrophy, Lattice Type Iiia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 visual impairment HP:0000505
3 lattice corneal dystrophy HP:0001149
4 corneal erosion HP:0200020

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type Iiia

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Lattice Type Iiia

Search NIH Clinical Center for Corneal Dystrophy, Lattice Type Iiia

Genetic Tests for Corneal Dystrophy, Lattice Type Iiia

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Genetic tests related to Corneal Dystrophy, Lattice Type Iiia:

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

Anatomical Context for Corneal Dystrophy, Lattice Type Iiia

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Animal Models for Corneal Dystrophy, Lattice Type Iiia or affiliated genes

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Publications for Corneal Dystrophy, Lattice Type Iiia

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Variations for Corneal Dystrophy, Lattice Type Iiia

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Lattice Type Iiia:

62
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 Corneal Dystrophy, Lattice Type Iiia:

6
id Gene Variation 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 Corneal Dystrophy, Lattice Type Iiia

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Search GEO for disease gene expression data for Corneal Dystrophy, Lattice Type Iiia.

Pathways for genes affiliated with Corneal Dystrophy, Lattice Type Iiia

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Compounds for genes affiliated with Corneal Dystrophy, Lattice Type Iiia

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GO Terms for genes affiliated with Corneal Dystrophy, Lattice Type Iiia

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Products for genes affiliated with Corneal Dystrophy, Lattice Type Iiia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corneal Dystrophy, Lattice Type Iiia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet