CDL3A
MCID: CRN160
MIFTS: 21

Corneal Dystrophy, Lattice Type Iiia (CDL3A) malady

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

Aliases & Classifications for Corneal Dystrophy, Lattice Type Iiia

Aliases & Descriptions for Corneal Dystrophy, Lattice Type Iiia:

Name: Corneal Dystrophy, Lattice Type Iiia 54 13 69
Lattice Corneal Dystrophy Type Iiia 24 66
Corneal Dystrophy, Lattice Type 3a 66 29
Lattice Corneal Dystrophy Type Iii a 50
Lattice Corneal Dystrophy Type 3a 50
Cdl3a 66

Characteristics:

HPO:

32
corneal dystrophy, lattice type iiia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608471
MedGen 40 C1837974

Summaries for Corneal Dystrophy, Lattice Type Iiia

NIH Rare Diseases : 50 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, corneal erosion 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 : 66 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:

id Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.5
2 lattice corneal dystrophy 10.5

Symptoms & Phenotypes for Corneal Dystrophy, Lattice Type Iiia

Symptoms by clinical synopsis from OMIM:

608471

Clinical features from OMIM:

608471

Human phenotypes related to Corneal Dystrophy, Lattice Type Iiia:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 corneal erosion 32 HP:0200020
3 reduced visual acuity 32 HP:0007663
4 lattice corneal dystrophy 32 HP:0001149

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:

id Genetic test Affiliating Genes
1 Lattice Corneal Dystrophy Type 3a 29
2 Lattice Corneal Dystrophy Type Iiia 24 TGFBI

Anatomical Context for Corneal Dystrophy, Lattice Type Iiia

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

39
Eye

Publications for Corneal Dystrophy, Lattice Type Iiia

Variations for Corneal Dystrophy, Lattice Type Iiia

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

66
id 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
id 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.1619T> C (p.Phe540Ser) single nucleotide variant Pathogenic rs121909214 GRCh37 Chromosome 5, 135392425: 135392425

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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