FECD4
MCID: CRN143
MIFTS: 23

Corneal Dystrophy, Fuchs Endothelial, 4 (FECD4)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Corneal Dystrophy, Fuchs Endothelial, 4

MalaCards integrated aliases for Corneal Dystrophy, Fuchs Endothelial, 4:

Name: Corneal Dystrophy, Fuchs Endothelial, 4 57 74 29 13 6 72
Fecd4 57 74
Corneal Dystrophy, Fuchs Endothelial, Late-Onset 57
Corneal Dystrophy Fuchs Endothelial Late-Onset 74
Dystrophy, Corneal, Fuchs Endothelial, Type 4 40
Fuchs Dystrophy Late-Onset 74

Characteristics:

HPO:

32
corneal dystrophy, fuchs endothelial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D005642
MedGen 42 C2750450
UMLS 72 C2750450

Summaries for Corneal Dystrophy, Fuchs Endothelial, 4

OMIM : 57 Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). (613268)

MalaCards based summary : Corneal Dystrophy, Fuchs Endothelial, 4, also known as fecd4, is related to corneal dystrophy, fuchs endothelial, 6 and corneal dystrophy, fuchs endothelial, 2. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 4 is SLC4A11 (Solute Carrier Family 4 Member 11). Affiliated tissues include endothelial, and related phenotypes are corneal guttata and visual impairment

UniProtKB/Swiss-Prot : 74 Corneal dystrophy, Fuchs endothelial, 4: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

Related Diseases for Corneal Dystrophy, Fuchs Endothelial, 4

Graphical network of the top 20 diseases related to Corneal Dystrophy, Fuchs Endothelial, 4:



Diseases related to Corneal Dystrophy, Fuchs Endothelial, 4

Symptoms & Phenotypes for Corneal Dystrophy, Fuchs Endothelial, 4

Human phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 4:

32
# Description HPO Frequency HPO Source Accession
1 corneal guttata 32 very rare (1%) HP:0012038
2 visual impairment 32 HP:0000505
3 corneal dystrophy 32 HP:0001131

Clinical features from OMIM:

613268

Drugs & Therapeutics for Corneal Dystrophy, Fuchs Endothelial, 4

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Fuchs Endothelial, 4

Genetic Tests for Corneal Dystrophy, Fuchs Endothelial, 4

Genetic tests related to Corneal Dystrophy, Fuchs Endothelial, 4:

# Genetic test Affiliating Genes
1 Corneal Dystrophy, Fuchs Endothelial, 4 29 SLC4A11

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 4

MalaCards organs/tissues related to Corneal Dystrophy, Fuchs Endothelial, 4:

41
Endothelial

Publications for Corneal Dystrophy, Fuchs Endothelial, 4

Articles related to Corneal Dystrophy, Fuchs Endothelial, 4:

# Title Authors PMID Year
1
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 8
24094747 2013
2
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. 8
18024964 2008
3
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 71
16767101 2006
4
Development of an anti-ferret CD4 monoclonal antibody for the characterisation of ferret T lymphocytes. 38
28216237 2017
5
Transcriptome analysis of the human corneal endothelium. 38
25377225 2014

Variations for Corneal Dystrophy, Fuchs Endothelial, 4

ClinVar genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A11 NM_001174089.2(SLC4A11): c.2078G> A (p.Gly693Glu) single nucleotide variant Pathogenic rs267607064 20:3209598-3209598 20:3228952-3228952
2 SLC4A11 NM_001174089.2(SLC4A11): c.2213C> T (p.Thr738Met) single nucleotide variant Pathogenic rs267607066 20:3209333-3209333 20:3228687-3228687
3 SLC4A11 SLC4A11, 2-BP DEL, 99TC deletion Pathogenic
4 SLC4A11 NM_001174089.2(SLC4A11): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs267607065 20:3211600-3211600 20:3230954-3230954

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 4:

74 (show all 13)
# Symbol AA change Variation ID SNP ID
1 SLC4A11 p.Glu399Lys VAR_047809 rs267607065
2 SLC4A11 p.Gly709Glu VAR_047812 rs267607064
3 SLC4A11 p.Thr754Met VAR_047813 rs267607066
4 SLC4A11 p.Glu167Asp VAR_064422 rs141836046
5 SLC4A11 p.Arg282Pro VAR_064423
6 SLC4A11 p.Tyr526Cys VAR_064424 rs150571742
7 SLC4A11 p.Val575Met VAR_064425 rs144734280
8 SLC4A11 p.Gly583Asp VAR_064426 rs139078082
9 SLC4A11 p.Gly742Arg VAR_064427 rs143965185
10 SLC4A11 p.Gly834Ser VAR_064428 rs144586846
11 SLC4A11 p.Trp240Ser VAR_075537 rs746532062
12 SLC4A11 p.Thr434Ile VAR_075538
13 SLC4A11 p.Val507Ile VAR_075539 rs532728316

Expression for Corneal Dystrophy, Fuchs Endothelial, 4

Search GEO for disease gene expression data for Corneal Dystrophy, Fuchs Endothelial, 4.

Pathways for Corneal Dystrophy, Fuchs Endothelial, 4

GO Terms for Corneal Dystrophy, Fuchs Endothelial, 4

Sources for Corneal Dystrophy, Fuchs Endothelial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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