FECD4
MCID: CRN143
MIFTS: 21

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 58 76 30 13 6 74
Fecd4 58 76
Corneal Dystrophy, Fuchs Endothelial, Late-Onset 58
Corneal Dystrophy Fuchs Endothelial Late-Onset 76
Dystrophy, Corneal, Fuchs Endothelial, Type 4 41
Fuchs Dystrophy Late-Onset 76

Characteristics:

HPO:

33
corneal dystrophy, fuchs endothelial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613268
MeSH 45 D005642
MedGen 43 C2750450
UMLS 74 C2750450

Summaries for Corneal Dystrophy, Fuchs Endothelial, 4

OMIM : 58 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 eye, and related phenotypes are corneal guttata and visual impairment

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 corneal guttata 33 very rare (1%) HP:0012038
2 visual impairment 33 HP:0000505
3 corneal dystrophy 33 HP:0001131

Clinical features from OMIM:

613268

Drugs & Therapeutics for Corneal Dystrophy, Fuchs Endothelial, 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001

Search 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 30 SLC4A11

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 4

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

42
Endothelial, Eye

Publications for Corneal Dystrophy, Fuchs Endothelial, 4

Articles related to Corneal Dystrophy, Fuchs Endothelial, 4:

# Title Authors Year
1
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). ( 16767101 )
2006

Variations for Corneal Dystrophy, Fuchs Endothelial, 4

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

76 (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

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

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

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

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70 SNOMED-CT via HPO
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74 UMLS
75 UMLS via Orphanet
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