CFD
MCID: CRN285
MIFTS: 32

Corneal Dystrophy, Fleck (CFD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Fleck

MalaCards integrated aliases for Corneal Dystrophy, Fleck:

Name: Corneal Dystrophy, Fleck 58 76 45
Fleck Corneal Dystrophy 58 12 60 76 38 30 6 15 41
Fcd 58 12 60 76
Corneal Fleck Dystrophy 58 13
Cfd 58 76
Corneal Dystrophy, Francois-Neetens Speckled or Flecked 58
Corneal Dystrophy Francois-Neetens Speckled or Flecked 76
Francois-Neetens Speckled Corneal Dystrophy 12
François-Neetens Speckled Corneal Dystrophy 60
Fleck Corneal Dystrophy; Fcd 58

Characteristics:

Orphanet epidemiological data:

60
fleck corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
corneal dystrophy, fleck:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060448
OMIM 58 121850
KEGG 38 H00957
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1562113
Orphanet 60 ORPHA98970
MedGen 43 C1562113
SNOMED-CT via HPO 70 246622003 263681008 409668002
UMLS 74 C1562113

Summaries for Corneal Dystrophy, Fleck

OMIM : 58 Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans (summary by Kawasaki et al., 2012). (121850)

MalaCards based summary : Corneal Dystrophy, Fleck, also known as fleck corneal dystrophy, is related to complement factor d deficiency and congenital femoral deficiency. An important gene associated with Corneal Dystrophy, Fleck is PIKFYVE (Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include kidney, eye and heart, and related phenotypes are photophobia and speckled corneal dystrophy

UniProtKB/Swiss-Prot : 76 Corneal dystrophy, fleck: A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision.

Related Diseases for Corneal Dystrophy, Fleck

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 complement factor d deficiency 11.6
2 congenital femoral deficiency 11.6
3 focal cortical dysplasia, type ii 11.5
4 cerebellofaciodental syndrome 11.4
5 body mass index quantitative trait locus 11 11.3
6 chronic kidney failure 11.3
7 craniofacial dyssynostosis 11.1
8 epilepsy, familial focal, with variable foci 1 11.1
9 epilepsy, familial focal, with variable foci 2 11.1
10 epilepsy, familial focal, with variable foci 3 11.1
11 isolated focal cortical dysplasia type ib 11.1
12 isolated focal cortical dysplasia type ic 11.1
13 isolated focal cortical dysplasia type ia 11.1
14 isolated focal cortical dysplasia type i 11.1
15 corneal dystrophy 10.6
16 intracranial aneurysm 10.4
17 cerebral aneurysms 10.4
18 bornholm eye disease 10.3
19 acute insulin response 10.2
20 aortic aneurysm 10.2
21 lung cancer 10.1
22 cervical squamous cell carcinoma 10.1
23 polycystic kidney disease 10.1
24 aortic aneurysm, familial abdominal, 1 10.1
25 cystic fibrosis 10.1
26 fibrous dysplasia 10.1
27 carotid stenosis 10.1
28 cerebral folate deficiency 10.1
29 streptococcal group a invasive disease 10.1
30 peripheral t-cell lymphoma 10.0
31 post-transplant lymphoproliferative disease 10.0
32 lymphoma 10.0
33 epilepsy 10.0
34 focal epilepsy 10.0
35 astrocytoma 10.0
36 fibrillary astrocytoma 10.0
37 cytokine deficiency 10.0
38 hepatocellular carcinoma 9.9
39 cardiac valvular defect, developmental 9.9
40 horns in sheep 9.9
41 macular degeneration, age-related, 1 9.9
42 aortic aneurysm, familial thoracic 1 9.9
43 myocardial infarction 9.9
44 dilated cardiomyopathy 9.9
45 heart valve disease 9.9
46 coronary stenosis 9.9
47 rhinitis 9.9
48 atrophic rhinitis 9.9
49 aortic coarctation 9.9
50 deafness with labyrinthine aplasia microtia and microdontia 9.9

Graphical network of the top 20 diseases related to Corneal Dystrophy, Fleck:



Diseases related to Corneal Dystrophy, Fleck

Symptoms & Phenotypes for Corneal Dystrophy, Fleck

Human phenotypes related to Corneal Dystrophy, Fleck:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 speckled corneal dystrophy 33 HP:0007962

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
speckled corneal dystrophy (white flecks in corneal stroma)
minor photophobia
normal vision

Clinical features from OMIM:

121850

Drugs & Therapeutics for Corneal Dystrophy, Fleck

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Fleck

Cochrane evidence based reviews: corneal dystrophy, fleck

Genetic Tests for Corneal Dystrophy, Fleck

Genetic tests related to Corneal Dystrophy, Fleck:

# Genetic test Affiliating Genes
1 Fleck Corneal Dystrophy 30 PIKFYVE

Anatomical Context for Corneal Dystrophy, Fleck

MalaCards organs/tissues related to Corneal Dystrophy, Fleck:

42
Kidney, Eye, Heart, Lung, Liver, Tongue, T Cells

Publications for Corneal Dystrophy, Fleck

Articles related to Corneal Dystrophy, Fleck:

# Title Authors Year
1
Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy. ( 26396486 )
2015
2
Clinical features and in-vivo confocal microscopic imaging of fleck corneal dystrophy. ( 23627401 )
2013
3
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. ( 23288988 )
2012
4
A novel PIKFYVE mutation in fleck corneal dystrophy. ( 22065932 )
2011
5
Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish. ( 18558518 )
2008
6
Outcome of LASIK in fleck corneal dystrophy. ( 17172916 )
2006
7
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. ( 15902656 )
2005
8
Fleck corneal dystrophy. ( 139144 )
1977

Variations for Corneal Dystrophy, Fleck

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Fleck:

76
# Symbol AA change Variation ID SNP ID
1 PIKFYVE p.Lys1103Arg VAR_025309 rs121918336

ClinVar genetic disease variations for Corneal Dystrophy, Fleck:

6 (show top 50) (show all 223)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIKFYVE NM_015040.3(PIKFYVE): c.3150dupA (p.Asp1051Argfs) duplication Pathogenic rs869312464 GRCh37 Chromosome 2, 209190685: 209190685
2 PIKFYVE NM_015040.3(PIKFYVE): c.3150dupA (p.Asp1051Argfs) duplication Pathogenic rs869312464 GRCh38 Chromosome 2, 208325961: 208325961
3 PIKFYVE NM_015040.3(PIKFYVE): c.2008_2190del183 (p.Ile670_Gln730del) deletion Pathogenic
4 PIKFYVE NM_015040.3(PIKFYVE): c.3500C> G (p.Ser1167Ter) single nucleotide variant Likely pathogenic rs780579562 GRCh37 Chromosome 2, 209191035: 209191035
5 PIKFYVE NM_015040.3(PIKFYVE): c.3500C> G (p.Ser1167Ter) single nucleotide variant Likely pathogenic rs780579562 GRCh38 Chromosome 2, 208326311: 208326311
6 PIKFYVE NM_015040.3(PIKFYVE): c.1983C> A (p.Ile661=) single nucleotide variant Likely benign rs41305979 GRCh38 Chromosome 2, 208315349: 208315349
7 PIKFYVE NM_015040.3(PIKFYVE): c.2087G> A (p.Ser696Asn) single nucleotide variant Benign rs10932258 GRCh38 Chromosome 2, 208320256: 208320256
8 PIKFYVE NM_015040.3(PIKFYVE): c.2087G> A (p.Ser696Asn) single nucleotide variant Benign rs10932258 GRCh37 Chromosome 2, 209184980: 209184980
9 PIKFYVE NM_015040.3(PIKFYVE): c.2895G> A (p.Ala965=) single nucleotide variant Likely benign rs149763308 GRCh38 Chromosome 2, 208325706: 208325706
10 PIKFYVE NM_015040.3(PIKFYVE): c.2895G> A (p.Ala965=) single nucleotide variant Likely benign rs149763308 GRCh37 Chromosome 2, 209190430: 209190430
11 PIKFYVE NM_015040.3(PIKFYVE): c.3114A> G (p.Arg1038=) single nucleotide variant Benign rs999891 GRCh38 Chromosome 2, 208325925: 208325925
12 PIKFYVE NM_015040.3(PIKFYVE): c.3114A> G (p.Arg1038=) single nucleotide variant Benign rs999891 GRCh37 Chromosome 2, 209190649: 209190649
13 PIKFYVE NM_015040.3(PIKFYVE): c.3511G> A (p.Ala1171Thr) single nucleotide variant Uncertain significance rs748235174 GRCh38 Chromosome 2, 208326322: 208326322
14 PIKFYVE NM_015040.3(PIKFYVE): c.3511G> A (p.Ala1171Thr) single nucleotide variant Uncertain significance rs748235174 GRCh37 Chromosome 2, 209191046: 209191046
15 PIKFYVE NM_015040.3(PIKFYVE): c.3547C> A (p.Gln1183Lys) single nucleotide variant Benign rs1529979 GRCh38 Chromosome 2, 208326358: 208326358
16 PIKFYVE NM_015040.3(PIKFYVE): c.3547C> A (p.Gln1183Lys) single nucleotide variant Benign rs1529979 GRCh37 Chromosome 2, 209191082: 209191082
17 PIKFYVE NM_015040.3(PIKFYVE): c.3564T> C (p.Asn1188=) single nucleotide variant Benign rs1529978 GRCh38 Chromosome 2, 208326375: 208326375
18 PIKFYVE NM_015040.3(PIKFYVE): c.3564T> C (p.Asn1188=) single nucleotide variant Benign rs1529978 GRCh37 Chromosome 2, 209191099: 209191099
19 PIKFYVE NM_015040.3(PIKFYVE): c.4774G> A (p.Gly1592Arg) single nucleotide variant Likely benign rs148994064 GRCh38 Chromosome 2, 208339519: 208339519
20 PIKFYVE NM_015040.3(PIKFYVE): c.4774G> A (p.Gly1592Arg) single nucleotide variant Likely benign rs148994064 GRCh37 Chromosome 2, 209204243: 209204243
21 PIKFYVE NM_015040.3(PIKFYVE): c.5334G> A (p.Thr1778=) single nucleotide variant Benign rs2304545 GRCh38 Chromosome 2, 208347983: 208347983
22 PIKFYVE NM_015040.3(PIKFYVE): c.5334G> A (p.Thr1778=) single nucleotide variant Benign rs2304545 GRCh37 Chromosome 2, 209212707: 209212707
23 PIKFYVE NM_015040.3(PIKFYVE): c.5397A> G (p.Thr1799=) single nucleotide variant Benign rs2118297 GRCh38 Chromosome 2, 208350046: 208350046
24 PIKFYVE NM_015040.3(PIKFYVE): c.5397A> G (p.Thr1799=) single nucleotide variant Benign rs2118297 GRCh37 Chromosome 2, 209214770: 209214770
25 PIKFYVE NM_015040.3(PIKFYVE): c.5511T> C (p.Ile1837=) single nucleotide variant Benign rs13020468 GRCh38 Chromosome 2, 208350847: 208350847
26 PIKFYVE NM_015040.3(PIKFYVE): c.5511T> C (p.Ile1837=) single nucleotide variant Benign rs13020468 GRCh37 Chromosome 2, 209215571: 209215571
27 PIKFYVE NM_015040.3(PIKFYVE): c.5526A> G (p.Glu1842=) single nucleotide variant Benign rs994697 GRCh38 Chromosome 2, 208350862: 208350862
28 PIKFYVE NM_015040.3(PIKFYVE): c.5526A> G (p.Glu1842=) single nucleotide variant Benign rs994697 GRCh37 Chromosome 2, 209215586: 209215586
29 PIKFYVE NM_015040.3(PIKFYVE): c.*240C> T single nucleotide variant Likely benign rs567925149 GRCh38 Chromosome 2, 208355545: 208355545
30 PIKFYVE NM_015040.3(PIKFYVE): c.*240C> T single nucleotide variant Likely benign rs567925149 GRCh37 Chromosome 2, 209220269: 209220269
31 PIKFYVE NM_015040.3(PIKFYVE): c.*1001G> T single nucleotide variant Uncertain significance rs886055541 GRCh38 Chromosome 2, 208356306: 208356306
32 PIKFYVE NM_015040.3(PIKFYVE): c.*1001G> T single nucleotide variant Uncertain significance rs886055541 GRCh37 Chromosome 2, 209221030: 209221030
33 PIKFYVE NM_015040.3(PIKFYVE): c.*1262T> G single nucleotide variant Benign rs6725527 GRCh38 Chromosome 2, 208356567: 208356567
34 PIKFYVE NM_015040.3(PIKFYVE): c.*1262T> G single nucleotide variant Benign rs6725527 GRCh37 Chromosome 2, 209221291: 209221291
35 PIKFYVE NM_015040.3(PIKFYVE): c.*1973_*1974insA insertion Likely benign rs199859183 GRCh38 Chromosome 2, 208357278: 208357279
36 PIKFYVE NM_015040.3(PIKFYVE): c.*1973_*1974insA insertion Likely benign rs199859183 GRCh37 Chromosome 2, 209222002: 209222003
37 PIKFYVE NM_015040.3(PIKFYVE): c.*2143G> C single nucleotide variant Likely benign rs184529823 GRCh38 Chromosome 2, 208357448: 208357448
38 PIKFYVE NM_015040.3(PIKFYVE): c.4167_4170delAGTA (p.Glu1389Aspfs*16) deletion Pathogenic rs387907335 GRCh38 Chromosome 2, 208335330: 208335333
39 PIKFYVE NM_015040.3(PIKFYVE): c.4167_4170delAGTA (p.Glu1389Aspfs*16) deletion Pathogenic rs387907335 GRCh37 Chromosome 2, 209200054: 209200057
40 PIKFYVE NM_015040.3(PIKFYVE): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs121918337 GRCh38 Chromosome 2, 208325773: 208325773
41 PIKFYVE NM_015040.3(PIKFYVE): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs121918337 GRCh37 Chromosome 2, 209190497: 209190497
42 PIKFYVE NM_015040.3(PIKFYVE): c.3308A> G (p.Lys1103Arg) single nucleotide variant Pathogenic rs121918336 GRCh38 Chromosome 2, 208326119: 208326119
43 PIKFYVE NM_015040.3(PIKFYVE): c.3308A> G (p.Lys1103Arg) single nucleotide variant Pathogenic rs121918336 GRCh37 Chromosome 2, 209190843: 209190843
44 PIKFYVE NM_015040.3(PIKFYVE): c.1946G> A (p.Arg649Gln) single nucleotide variant Likely benign rs377372888 GRCh37 Chromosome 2, 209180036: 209180036
45 PIKFYVE NM_015040.3(PIKFYVE): c.1946G> A (p.Arg649Gln) single nucleotide variant Likely benign rs377372888 GRCh38 Chromosome 2, 208315312: 208315312
46 PIKFYVE NM_015040.3(PIKFYVE): c.1849A> G (p.Met617Val) single nucleotide variant Benign rs16840913 GRCh37 Chromosome 2, 209179939: 209179939
47 PIKFYVE NM_015040.3(PIKFYVE): c.1849A> G (p.Met617Val) single nucleotide variant Benign rs16840913 GRCh38 Chromosome 2, 208315215: 208315215
48 PIKFYVE NM_015040.3(PIKFYVE): c.1983C> A (p.Ile661=) single nucleotide variant Likely benign rs41305979 GRCh37 Chromosome 2, 209180073: 209180073
49 PIKFYVE NM_015040.3(PIKFYVE): c.1770C> T (p.Asn590=) single nucleotide variant Likely benign rs61752185 GRCh37 Chromosome 2, 209179091: 209179091
50 PIKFYVE NM_015040.3(PIKFYVE): c.1770C> T (p.Asn590=) single nucleotide variant Likely benign rs61752185 GRCh38 Chromosome 2, 208314367: 208314367

Expression for Corneal Dystrophy, Fleck

Search GEO for disease gene expression data for Corneal Dystrophy, Fleck.

Pathways for Corneal Dystrophy, Fleck

Pathways related to Corneal Dystrophy, Fleck according to KEGG:

38
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Phagosome hsa04145
4 Regulation of actin cytoskeleton hsa04810

GO Terms for Corneal Dystrophy, Fleck

Sources for Corneal Dystrophy, Fleck

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
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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