MCID: CRN160
MIFTS: 22

Corneal Dystrophy, Lattice Type Iiia malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Corneal Dystrophy, Lattice Type Iiia

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Aliases & Descriptions for Corneal Dystrophy, Lattice Type Iiia:

Name: Corneal Dystrophy, Lattice Type Iiia 49 11 65
Lattice Corneal Dystrophy Type Iiia 22 67
Corneal Dystrophy, Lattice Type 3a 67 24
 
Lattice Corneal Dystrophy Type Iii a 45
Lattice Corneal Dystrophy Type 3a 45
Cdl3a 67

Characteristics:

HPO:

61
corneal dystrophy, lattice type iiia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 608471
MedGen34 C1837974
UMLS65 C1837974

Summaries for Corneal Dystrophy, Lattice Type Iiia

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NIH Rare Diseases:45 Lattice corneal dystrophy type 3a is rare condition that affects the cornea. it is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. lattice corneal dystrophy type 3a is caused by changes (mutations) in the tgfbi gene and is inherited in an autosomal dominant manner. the condition is usually treated surgically. last updated: 3/24/2016

MalaCards based summary: Corneal Dystrophy, Lattice Type Iiia, also known as lattice corneal dystrophy type iiia, is related to tinea corporis and tuberculosis, and has symptoms including visual impairment, lattice corneal dystrophy and reduced visual acuity. An important gene associated with Corneal Dystrophy, Lattice Type Iiia is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Corneal dystrophy, lattice type 3A: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.

Description from OMIM:49 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

Diseases related to Corneal Dystrophy, Lattice Type Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tinea corporis10.4
2tuberculosis10.4
3pleural mesothelioma10.4

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 visual impairment HP:0000505
2 lattice corneal dystrophy HP:0001149
3 reduced visual acuity HP:0007663
4 corneal erosion HP:0200020

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type Iiia

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Interventional clinical trials:

Search ClinicalTrials, 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 Iiia22 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type Iiia

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MalaCards organs/tissues related to Corneal Dystrophy, Lattice Type Iiia:

33
Eye

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:

67
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:

5
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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GO Terms for genes affiliated with Corneal Dystrophy, Lattice Type Iiia

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Sources for Corneal Dystrophy, Lattice Type Iiia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet