MCID: LTT001
MIFTS: 32

Lattice Corneal Dystrophy

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lattice Corneal Dystrophy

MalaCards integrated aliases for Lattice Corneal Dystrophy:

Name: Lattice Corneal Dystrophy 11 53 14 75
Familial Amyloid Neuropathy, Finnish Type 11
Familial Amyloid Polyneuropathy, Type V 71

Classifications:



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Disease Ontology 11 DOID:8943
MeSH 43 C537935
UMLS 71 C0155127

Summaries for Lattice Corneal Dystrophy

Disease Ontology: 11 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 are Ca, cAMP and Lipid Signaling and Coregulation of Androgen receptor activity. Affiliated tissues include cornea, eye and kidney, and related phenotypes are Increased SMN2 exon 7 inclusion and cellular

Wikipedia: 75 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

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, lattice type i 33.6 TGIF1 TGFBI GSN
2 corneal dystrophy, gelatinous drop-like 33.1 TGFBI TACSTD2 GSN CHST6
3 corneal dystrophy, avellino type 33.0 TGIF1 TGFBI TBCD TACSTD2 CHST6
4 corneal dystrophy 31.9 TGIF1 TGFBI TGFB1 TACSTD2 GSN CHST6
5 recurrent corneal erosion 31.2 TGFBI GSN CHST6
6 granular corneal dystrophy 30.5 TGFBI TGFB1 TBCD TACSTD2 CHST6
7 corneal degeneration 30.5 TGFBI TACSTD2 CHST6
8 epithelial basement membrane dystrophy 30.5 TGFBI TBCD CHST6
9 corneal disease 30.5 TGFBI TACSTD2 H2AC18 GSN CPZ CHST6
10 paget's disease of bone 30.4 HNRNPA2B1 HNRNPA1 FUS
11 corneal deposit 30.4 TGFBI TBCD TACSTD2 CHST6
12 corneal dystrophy, meesmann, 1 30.3 TGFBI CHST6
13 amyloidosis, finnish type 12.1
14 corneal dystrophy, lattice type iiia 11.9
15 amyloidosis 10.8
16 ceroid lipofuscinosis, neuronal, 5 10.5
17 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
18 hereditary amyloidosis 10.4
19 amyloidosis, hereditary, transthyretin-related 10.4
20 polyneuropathy 10.4
21 hereditary transthyretin amyloidosis 10.4
22 conjunctival vascular disease 10.4 TGFBI TGFB1
23 exhibitionism 10.3 OSTF1 H2AC18
24 narcissistic personality disorder 10.3 OSTF1 H2AC18
25 interstitial keratitis 10.3 TGFBI CHST6
26 corneal dystrophy, groenouw type i 10.3 TGFBI CHST6
27 macular dystrophy, corneal 10.3 TGFBI TACSTD2 CHST6
28 multiple personality disorder 10.3 POLI OSTF1
29 serum amyloid a amyloidosis 10.3
30 paraphilia disorder 10.3 OSTF1 H2AC18
31 locked-in syndrome 10.3 FUS CPZ
32 reading disorder 10.3 POLI OSTF1 CPZ
33 eosinophilia-myalgia syndrome 10.3 TGFB1 HNMT H2AC18
34 ovarian carcinosarcoma 10.3 TACSTD2 H2AC18
35 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.3 HNRNPA2B1 HNRNPA1
36 learning disability 10.3 POLI OSTF1 H2AC18
37 multisystem proteinopathy 10.2 HNRNPA2B1 HNRNPA1 FUS
38 fragile x-associated tremor/ataxia syndrome 10.2 HNRNPA2B1 HNRNPA1 FUS
39 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2 HNRNPA2B1 HNRNPA1 FUS
40 spinocerebellar ataxia 2 10.2 HNRNPA2B1 HNRNPA1 FUS
41 corneal dystrophy, reis-bucklers type 10.2 TGFBI TBCD TACSTD2 CHST6
42 corneal dystrophy, thiel-behnke type 10.2 TGFBI TBCD TACSTD2 CHST6
43 alexithymia 10.2 POLI OSTF1 H2AC18 CPZ
44 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.2 HNRNPA2B1 HNRNPA1 FUS
45 keratitis, hereditary 10.2
46 keratoconus 10.2
47 blepharochalasis 10.2
48 eye disease 10.2
49 cataract 10.2
50 neuropathy 10.2

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 CHST6 CPZ FUS GSN H2AC18 HNMT
2 no effect GR00402-S-2 10.19 CHST6 CPZ FUS GSN H2AC18 HNMT
3 Increased SMN2 exon 7 inclusion GR00254-A 8.96 HNRNPA1 HNRNPA2B1

MGI Mouse Phenotypes related to Lattice Corneal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 FUS GSN MSH3 OPN4 POLI PVALB
2 vision/eye MP:0005391 9.65 CHST6 MSH3 OPN4 OSTF1 PVALB RIC8B
3 mortality/aging MP:0010768 9.47 CHST6 FUS GSN HNRNPA1 HNRNPA2B1 MSH3

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

Organs/tissues related to Lattice Corneal Dystrophy:

FMA: Cornea
MalaCards : Eye, Kidney, Heart

Publications for Lattice Corneal Dystrophy

Articles related to Lattice Corneal Dystrophy:

(show top 50) (show all 293)
# Title Authors PMID Year
1
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. 53 62
20458218 2010
2
Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. 53 62
20092310 2010
3
Lattice corneal dystrophy, gelsolin type (Meretoja's syndrome). 53 62
19832730 2009
4
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. 53 62
19956413 2009
5
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. 53 62
19461933 2009
6
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. 53 62
19092416 2009
7
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. 53 62
18385782 2008
8
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. 53 62
18303168 2008
9
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. 53 62
17765440 2007
10
In vivo laser confocal microscopic findings of corneal stromal dystrophies. 53 62
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. 53 62
16809844 2006
12
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. 53 62
16541014 2006
13
Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. 53 62
15923518 2005
14
[Molecular genetic study on patients with lattice corneal dystrophy in China]. 53 62
16008913 2005
15
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. 53 62
15790870 2005
16
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. 53 62
15604878 2005
17
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 53 62
15623763 2005
18
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. 53 62
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]. 53 62
15559315 2004
20
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. 53 62
15234146 2004
21
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. 53 62
15183802 2004
22
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. 53 62
15111592 2004
23
Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. 53 62
15013897 2004
24
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. 53 62
14597039 2003
25
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. 53 62
12770961 2003
26
[The pathogenesis and treatment of corneal disorders]. 53 62
12610836 2002
27
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. 53 62
12400061 2002
28
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. 53 62
11413411 2001
29
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. 53 62
11095060 2000
30
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. 53 62
11004271 2000
31
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. 53 62
10798644 2000
32
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. 53 62
10832717 2000
33
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. 53 62
10328397 1999
34
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. 53 62
10425035 1999
35
Ultrastructural localization of gelsolin in lattice corneal dystrophy type I. 53 62
9787234 1998
36
Immunohistochemical analysis of lattice corneal dystrophies types I and II. 53 62
8110676 1993
37
Gelsolin immunoreactivity in corneal amyloid, wound healing, and macular and granular dystrophies. 53 62
7683843 1993
38
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China. 62
35484844 2022
39
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant. 62
35470743 2022
40
Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy. 62
35962009 2022
41
Confirmation of association of TGFBI p.Ser591Phe mutation with variant lattice corneal dystrophy. 62
35315300 2022
42
Isolated corneal perineural amyloidosis: a unique presentation of lattice corneal dystrophy. 62
36007968 2022
43
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy. 62
33645289 2022
44
De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA. 62
35683443 2022
45
Mutation effects on FAS1 domain 4 based on structure and solubility. 62
34942360 2022
46
[Multimodal imaging of lattice corneal dystrophy]. 62
35034855 2022
47
Recurrence and Visual Outcomes of Phototherapeutic Keratectomy in Lattice Corneal Dystrophy: A Cohort Study. 62
35020539 2022
48
An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree. 62
34937214 2022
49
In vivo confocal microscopy qualitative investigation of the relationships between lattice corneal dystrophy deposition and corneal nerves. 62
34961485 2021
50
Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature. 62
33124478 2021

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 11.23 TPT1 TACSTD2 GSN
2 10.58 TGIF1 HNRNPA1 GSN

GO Terms for Lattice Corneal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 TGFBI TACSTD2 POLI OPN4 MSH3
2 amyloid fibril formation GO:1990000 9.1 HNRNPA1 GSN FUS

Molecular functions related to Lattice Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-rich strand telomeric DNA binding GO:0098505 9.26 HNRNPA2B1 HNRNPA1
2 molecular condensate scaffold activity GO:0140693 9.1 HNRNPA2B1 HNRNPA1 FUS

Sources for Lattice Corneal Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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