MCID: CRN160
MIFTS: 21

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 52 12 68
Lattice Corneal Dystrophy Type Iiia 24 70
Corneal Dystrophy, Lattice Type 3a 70 27
 
Lattice Corneal Dystrophy Type Iii a 48
Lattice Corneal Dystrophy Type 3a 48
Cdl3a 70

Characteristics:

HPO:

64
corneal dystrophy, lattice type iiia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 608471
MedGen37 C1837974

Summaries for Corneal Dystrophy, Lattice Type Iiia

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NIH Rare Diseases:48 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 corneal dystrophy and lattice corneal dystrophy, 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:70 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:52 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
1corneal dystrophy10.5
2lattice corneal dystrophy10.5

Symptoms & Phenotypes for Corneal Dystrophy, Lattice Type Iiia

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Symptoms by clinical synopsis from OMIM:

608471

Clinical features from OMIM:

608471

Human phenotypes related to Corneal Dystrophy, Lattice Type Iiia:

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id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 lattice corneal dystrophy64 HP:0001149
3 reduced visual acuity64 HP:0007663
4 corneal erosion64 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 3a27
2 Lattice Corneal Dystrophy Type Iiia24 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type Iiia

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

36
Eye

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:

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id Symbol AA change Variation ID SNP ID
1TGFBIp.Pro501ThrVAR_005079rs121909212
2TGFBIp.Ala546ThrVAR_012448
3TGFBIp.Asn622LysVAR_018486
4TGFBIp.Phe540SerVAR_031538rs121909214

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)SNVPathogenicrs121909212GRCh37Chr 5, 135391459: 135391459
2TGFBINM_000358.2(TGFBI): c.1619T> C (p.Phe540Ser)SNVPathogenicrs121909214GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet