MCID: LTT001
MIFTS: 32

Lattice Corneal Dystrophy

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

Aliases & Classifications for Lattice Corneal Dystrophy

MalaCards integrated aliases for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 12 54 15
Familial Amyloid Neuropathy, Finnish Type 12
Familial Amyloid Polyneuropathy, Type V 70
Lattice Corneal Dystrophies 36

Classifications:



External Ids:

Disease Ontology 12 DOID:8943
KEGG 36 H00956
MeSH 44 C537935
UMLS 70 C0155127

Summaries for Lattice Corneal Dystrophy

Disease Ontology : 12 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has material basis in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.

MalaCards based summary : Lattice Corneal Dystrophy, also known as familial amyloid neuropathy, finnish type, is related to corneal dystrophy, lattice type i and corneal dystrophy, gelatinous drop-like. An important gene associated with Lattice Corneal Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways is Coregulation of Androgen receptor activity. Affiliated tissues include cornea, eye and bone, and related phenotypes are Decreased viability and Decreased viability

KEGG : 36 Lattice corneal dystrophy (LCD), the most common of the stromal cornea dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported.

Wikipedia : 73 Lattice corneal dystrophy type, is a rare form of corneal dystrophy. It has no systemic manifestations,... more...

Related Diseases for Lattice Corneal Dystrophy

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 Lattice Corneal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, lattice type i 33.6 TGIF1 TGFBI GSN
2 corneal dystrophy, gelatinous drop-like 32.8 TGFBI TACSTD2 KRT3 KRT12 GSN CHST6
3 corneal dystrophy, avellino type 32.6 TGIF1 TGFBI TBCD TACSTD2 KRT3 KRT12
4 corneal dystrophy 31.3 TGIF1 TGFBI TGFB1 TBCD TACSTD2 KRT3
5 recurrent corneal erosion 30.8 TGFBI KRT3 KRT12 CHST6
6 keratoconus 30.5 TGFBI KRT3 KRT12 GSN
7 corneal degeneration 30.3 TGFBI KRT3 KRT12 CHST6
8 corneal dystrophy, meesmann, 1 30.3 TGFBI KRT3 KRT12 CHST6
9 stromal dystrophy 30.3 TGFBI KRT3 KRT12 CHST6
10 granular corneal dystrophy 30.2 TGFBI TGFB1 TBCD TACSTD2 KRT3 KRT12
11 corneal deposit 30.1 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
12 corneal disease 30.0 TGFBI TACSTD2 KRT3 KRT12 H2AC18 GSN
13 lattice corneal dystrophy type ii 11.9
14 corneal dystrophy, lattice type iiia 11.9
15 amyloidosis, finnish type 11.9
16 familial amyloidosis, finnish type 11.5
17 amyloidosis 10.7
18 hereditary amyloidosis 10.4
19 polyneuropathy 10.4
20 exhibitionism 10.3 OSTF1 H2AC18
21 paraphilia disorder 10.3 OSTF1 H2AC18
22 endemic typhus 10.3 HTRA1 H2AC18
23 prosopagnosia 10.3 HNMT CPZ
24 locked-in syndrome 10.3 FUS CPZ
25 ovarian carcinosarcoma 10.3 TACSTD2 H2AC18
26 corneal dystrophy, groenouw type i 10.2 TGFBI TACSTD2 KRT12 CHST6
27 irregular astigmatism 10.2 TGFBI KRT3 KRT12
28 dermatopathia pigmentosa reticularis 10.2 HNRNPA1 H2AC18 FUS
29 schnyder corneal dystrophy 10.2 TGFBI KRT3 KRT12
30 endometrial stromal tumor 10.2 POLI HNRNPA1 H2AC18
31 limbal stem cell deficiency 10.2 KRT3 KRT12
32 corneal dystrophy, lisch epithelial 10.2 KRT3 KRT12 CHST6
33 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2 HNRNPA1 H2AC18 FUS
34 akinetopsia 10.2 OPN4 HNMT
35 tyrosinemia, type ii 10.2 KRT3 KRT12 CHST6
36 keratitis, hereditary 10.2
37 blepharochalasis 10.2
38 eye disease 10.2
39 cataract 10.2
40 macular dystrophy, corneal 10.2 TGFBI KRT3 KRT12 CHST6
41 corneal ectasia 10.1 TGFBI KRT3
42 hematuria, benign familial 10.1 RIC8B OPN4 HNMT
43 pseudopterygium 10.1 KRT3 KRT12
44 fuchs' endothelial dystrophy 10.1 TGFBI KRT3 KRT12 CHST6
45 eosinophilia-myalgia syndrome 10.1 TGFB1 HNMT
46 corneal dystrophy, posterior polymorphous, 1 10.1 TGFBI KRT3 KRT12 CHST6
47 epithelial basement membrane dystrophy 10.1 TGFBI TGFB1 TBCD KRT3 CHST6
48 corneal endothelial dystrophy 10.1 TGFBI TACSTD2 KRT3 KRT12 CHST6
49 aging 10.0
50 kearns-sayre syndrome 10.0

Graphical network of the top 20 diseases related to Lattice Corneal Dystrophy:



Diseases related to Lattice Corneal Dystrophy

Symptoms & Phenotypes for Lattice Corneal Dystrophy

GenomeRNAi Phenotypes related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.74 GSN
2 Decreased viability GR00055-A-2 9.74 GSN
3 Decreased viability GR00055-A-3 9.74 GSN
4 Decreased viability GR00221-A-1 9.74 RIC8B
5 Decreased viability GR00221-A-2 9.74 RIC8B
6 Decreased viability GR00221-A-3 9.74 RIC8B
7 Decreased viability GR00221-A-4 9.74 FUS RIC8B
8 Decreased viability GR00240-S-1 9.74 PVALB
9 Decreased viability GR00249-S 9.74 OPN4 TACSTD2 TGFB1 TGFBI
10 Decreased viability GR00381-A-1 9.74 HNMT OPN4 PVALB
11 Decreased viability GR00381-A-3 9.74 OPN4
12 Decreased viability GR00386-A-1 9.74 HNMT OSTF1 POLI RIC8B TBCD
13 Decreased viability GR00402-S-2 9.74 HTRA1 KRT3 TBCD TGFBI

MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 CHST6 HTRA1 KRT12 OPN4 OSTF1 PVALB

Drugs & Therapeutics for Lattice Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Lattice Corneal Dystrophy

Genetic Tests for Lattice Corneal Dystrophy

Anatomical Context for Lattice Corneal Dystrophy

The Foundational Model of Anatomy Ontology organs/tissues related to Lattice Corneal Dystrophy:

19
Cornea

MalaCards organs/tissues related to Lattice Corneal Dystrophy:

40
Eye, Bone, Endothelial, Kidney

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 286)
# Title Authors PMID Year
1
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. 54 61
20458218 2010
2
Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. 61 54
20092310 2010
3
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. 61 54
19956413 2009
4
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). 54 61
19832730 2009
5
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. 54 61
19461933 2009
6
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. 54 61
19092416 2009
7
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. 54 61
18385782 2008
8
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. 54 61
18303168 2008
9
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. 54 61
17765440 2007
10
In vivo laser confocal microscopic findings of corneal stromal dystrophies. 54 61
17846354 2007
11
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. 54 61
16809844 2006
12
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. 61 54
16541014 2006
13
Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. 61 54
15923518 2005
14
[Molecular genetic study on patients with lattice corneal dystrophy in China]. 61 54
16008913 2005
15
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. 54 61
15790870 2005
16
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. 54 61
15604878 2005
17
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 61 54
15623763 2005
18
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. 61 54
15531312 2004
19
[Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. 61 54
15559315 2004
20
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. 61 54
15234146 2004
21
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. 54 61
15183802 2004
22
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. 61 54
15111592 2004
23
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. 54 61
15013897 2004
24
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. 61 54
14597039 2003
25
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. 61 54
12770961 2003
26
The molecular genetics of the corneal dystrophies--current status. 61 54
12700042 2003
27
[The pathogenesis and treatment of corneal disorders]. 54 61
12610836 2002
28
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. 61 54
12400061 2002
29
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. 61 54
11413411 2001
30
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. 61 54
11095060 2000
31
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. 54 61
11004271 2000
32
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. 61 54
10832717 2000
33
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. 61 54
10798644 2000
34
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. 61 54
10328397 1999
35
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. 54 61
10425035 1999
36
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. 54 61
9787234 1998
37
Immunohistochemical analysis of lattice corneal dystrophies types I and II. 61 54
8110676 1993
38
Gelsolin immunoreactivity in corneal amyloid, wound healing, and macular and granular dystrophies. 61 54
7683843 1993
39
Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report. 61
33346999 2021
40
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy. 61
33645289 2021
41
Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes. 61
33513810 2021
42
The morphogenesis of granular and lattice corneal dystrophy - A mutation combination hypothesis. 61
33039949 2020
43
Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature. 61
33124478 2020
44
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. 61
32952948 2020
45
Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies. 61
32004730 2020
46
Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair. 61
32029872 2020
47
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation. 61
32368002 2020
48
Amyloidosis and Ocular Involvement: an Overview. 61
31829761 2020
49
Self-assembling amyloid-like peptides as exogenous second harmonic probes for bioimaging applications. 61
31162811 2019
50
Association of unilateral lattice corneal dystrophy on slit lamp and bilateral confocal microscopy features with H572R mutation in the TGFBI gene. 61
31270466 2019

Variations for Lattice Corneal Dystrophy

Expression for Lattice Corneal Dystrophy

Search GEO for disease gene expression data for Lattice Corneal Dystrophy.

Pathways for Lattice Corneal Dystrophy

Pathways related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.56 TGIF1 HNRNPA1 GSN

GO Terms for Lattice Corneal Dystrophy

Cellular components related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 TGFBI TACSTD2 KRT3 KRT12 HTRA1 HNRNPA1

Biological processes related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.92 TGFBI TACSTD2 OPN4 KRT12

Sources for Lattice Corneal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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