MCID: LTT005
MIFTS: 16

Lattice Corneal Dystrophy Type 3a malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Lattice Corneal Dystrophy Type 3a

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MalaCards based summary: Lattice Corneal Dystrophy Type 3a, is also known as lattice corneal dystrophy type iii a and has symptoms including 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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Lattice Corneal Dystrophy Type 3a, Aliases & Descriptions:

Name: Lattice Corneal Dystrophy Type 3a 42
Lattice Corneal Dystrophy Type Iii a 42 20 22
 
Familial Amyloid Polyneuropathy, Type V 62
Corneal Dystrophy, Lattice Type Iiia 46


Classifications:

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


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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Symptoms by clinical synopsis from OMIM:

608471

Clinical features from OMIM:

608471

HPO human phenotypes related to Lattice Corneal Dystrophy Type 3a:

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 Lattice Corneal Dystrophy Type 3a

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Drug clinical trials:

Search ClinicalTrials for Lattice Corneal Dystrophy Type 3a

Search NIH Clinical Center for Lattice Corneal Dystrophy Type 3a

Genetic Tests for Lattice Corneal Dystrophy Type 3a

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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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Variations for Lattice Corneal Dystrophy Type 3a

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UniProtKB/Swiss-Prot genetic disease variations for Lattice Corneal Dystrophy Type 3a:

64
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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet