CDL3A
MCID: CRN160
MIFTS: 24

Corneal Dystrophy, Lattice Type Iiia (CDL3A)

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type Iiia

MalaCards integrated aliases for Corneal Dystrophy, Lattice Type Iiia:

Name: Corneal Dystrophy, Lattice Type Iiia 58 13 74
Lattice Corneal Dystrophy Type 3a 54 30 6
Cdl3a 58 76
Dystrophy, Corneal, Lattice Type Iiia 41
Lattice Corneal Dystrophy, Type Iiia 58
Lattice Corneal Dystrophy Type Iii a 54
Lattice Corneal Dystrophy Type Iiia 76
Corneal Dystrophy, Lattice Type 3a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset 70-90 years
allelic corneal dystrophy groenow type , thiel-behnke type , lattice type i , avellino type , reis-bucklers type and epithelial basement membrane


HPO:

33
corneal dystrophy, lattice type iiia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Corneal Dystrophy, Lattice Type Iiia

NIH Rare Diseases : 54 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.

MalaCards based summary : Corneal Dystrophy, Lattice Type Iiia, also known as lattice corneal dystrophy type 3a, is related to corneal dystrophy and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Lattice Type Iiia is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye, and related phenotypes are visual impairment and corneal erosion

UniProtKB/Swiss-Prot : 76 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: 608471

Related Diseases for Corneal Dystrophy, Lattice Type Iiia

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:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.7
2 lattice corneal dystrophy 10.7

Symptoms & Phenotypes for Corneal Dystrophy, Lattice Type Iiia

Human phenotypes related to Corneal Dystrophy, Lattice Type Iiia:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 corneal erosion 33 HP:0200020
3 reduced visual acuity 33 HP:0007663
4 lattice corneal dystrophy 33 HP:0001149

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
lattice corneal dystrophy
decreased visual acuity
corneal erosions
thick ropy lattice lines in the corneal stroma
amyloid deposits in corneal stroma

Clinical features from OMIM:

608471

Drugs & Therapeutics for Corneal Dystrophy, Lattice Type Iiia

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Lattice Type Iiia

Genetic Tests for Corneal Dystrophy, Lattice Type Iiia

Genetic tests related to Corneal Dystrophy, Lattice Type Iiia:

# Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type 3a 30 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type Iiia

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

42
Eye

Publications for Corneal Dystrophy, Lattice Type Iiia

Articles related to Corneal Dystrophy, Lattice Type Iiia:

# Title Authors Year
1
Delayed Onset of Lattice Corneal Dystrophy Type IIIA Due to a Novel T621P Mutation in TGFBI. ( 27163623 )
2016
2
Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments. ( 25321938 )
2014
3
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. ( 15790870 )
2005
4
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. ( 12400061 )
2002
5
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. ( 10682981 )
2000
6
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. ( 10218700 )
1999
7
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. ( 9497262 )
1998
8
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. ( 9054935 )
1997
9
Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations. ( 2003794 )
1991

Variations for Corneal Dystrophy, Lattice Type Iiia

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Lattice Type Iiia:

76
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Pro501Thr VAR_005079 rs121909212
2 TGFBI p.Ala546Thr VAR_012448
3 TGFBI p.Asn622Lys VAR_018486
4 TGFBI p.Phe540Ser VAR_031538 rs121909214

ClinVar genetic disease variations for Corneal Dystrophy, Lattice Type Iiia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.1501C> A (p.Pro501Thr) single nucleotide variant Pathogenic rs121909212 GRCh37 Chromosome 5, 135391459: 135391459
2 TGFBI NM_000358.2(TGFBI): c.1501C> A (p.Pro501Thr) single nucleotide variant Pathogenic rs121909212 GRCh38 Chromosome 5, 136055770: 136055770
3 TGFBI NM_000358.2(TGFBI): c.1619T> C (p.Phe540Ser) single nucleotide variant Pathogenic rs121909214 GRCh37 Chromosome 5, 135392425: 135392425
4 TGFBI NM_000358.2(TGFBI): c.1619T> C (p.Phe540Ser) single nucleotide variant Pathogenic rs121909214 GRCh38 Chromosome 5, 136056736: 136056736
5 TGFBI NM_000358.2(TGFBI): c.1631A> G (p.Asn544Ser) single nucleotide variant Uncertain significance rs777288957 GRCh38 Chromosome 5, 136056748: 136056748
6 TGFBI NM_000358.2(TGFBI): c.1631A> G (p.Asn544Ser) single nucleotide variant Uncertain significance rs777288957 GRCh37 Chromosome 5, 135392437: 135392437

Expression for Corneal Dystrophy, Lattice Type Iiia

Search GEO for disease gene expression data for Corneal Dystrophy, Lattice Type Iiia.

Pathways for Corneal Dystrophy, Lattice Type Iiia

GO Terms for Corneal Dystrophy, Lattice Type Iiia

Sources for Corneal Dystrophy, Lattice Type Iiia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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