CFD
MCID: CRN285
MIFTS: 42

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 57 75 44
Fleck Corneal Dystrophy 57 12 59 75 37 29 6 15 40
Fcd 57 12 59 75
Corneal Fleck Dystrophy 57 13
Cfd 57 75
Corneal Dystrophy, Francois-Neetens Speckled or Flecked 57
Corneal Dystrophy Francois-Neetens Speckled or Flecked 75
Francois-Neetens Speckled Corneal Dystrophy 12
François-Neetens Speckled Corneal Dystrophy 59
Fleck Corneal Dystrophy; Fcd 57

Characteristics:

Orphanet epidemiological data:

59
fleck corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
corneal dystrophy, fleck:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 121850
Disease Ontology 12 DOID:0060448
Orphanet 59 ORPHA98970
UMLS via Orphanet 74 C1562113
ICD10 via Orphanet 34 H18.5
MedGen 42 C1562113
KEGG 37 H00957
SNOMED-CT via HPO 69 263681008 246622003 409668002
UMLS 73 C1562113

Summaries for Corneal Dystrophy, Fleck

OMIM : 57 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 focal cortical dysplasia, type ii and complement factor d 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 eye, lung and kidney, and related phenotypes are photophobia and speckled corneal dystrophy

UniProtKB/Swiss-Prot : 75 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 61)
# Related Disease Score Top Affiliating Genes
1 focal cortical dysplasia, type ii 32.2 TSC2 TSC1
2 complement factor d deficiency 11.6
3 congenital femoral deficiency 11.6
4 cerebellofaciodental syndrome 11.3
5 body mass index quantitative trait locus 11 11.2
6 chronic kidney failure 11.2
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 11.0
12 isolated focal cortical dysplasia type ic 11.0
13 isolated focal cortical dysplasia type ia 11.0
14 isolated focal cortical dysplasia type i 11.0
15 intracranial aneurysm 10.4
16 cerebral aneurysms 10.3
17 aortic aneurysm 10.2
18 corneal dystrophy 10.2
19 epilepsy 10.2
20 aortic aneurysm, familial abdominal, 1 10.2
21 lung cancer 10.1
22 cervical squamous cell carcinoma 10.1
23 polycystic kidney disease 10.1
24 adult hepatocellular carcinoma 10.1 TSC2 TSC1
25 kidney angiomyolipoma 10.1 TSC2 TSC1
26 angiomyolipoma 10.1 TSC2 TSC1
27 acute insulin response 10.1
28 fibrous dysplasia 10.1
29 carotid stenosis 10.1
30 cerebral folate deficiency 10.1
31 subependymal glioma 10.1 TSC2 TSC1
32 benign ependymoma 10.1 TSC2 TSC1
33 lissencephaly with cerebellar hypoplasia 10.1 TSC2 TSC1
34 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 TSC2 TSC1
35 megalencephaly 10.0 TSC1 AKT3
36 subependymal giant cell astrocytoma 10.0 TSC2 TSC1
37 tuberous sclerosis 1 10.0 TSC2 TSC1
38 b-cell lymphomas 10.0
39 peripheral t-cell lymphoma 10.0
40 post-transplant lymphoproliferative disease 10.0
41 lymphoma 10.0
42 focal epilepsy 10.0
43 astrocytoma 10.0
44 tuberous sclerosis 2 10.0 TSC2 TSC1
45 benign glioma 10.0 TSC2 TSC1 AKT3
46 stromal dystrophy 9.9 TSC1 RPS17 PIKFYVE AKT3
47 peutz-jeghers syndrome 9.9 TSC2 TSC1
48 hepatocellular carcinoma 9.9
49 cardiac valvular defect, developmental 9.9
50 macular degeneration, age-related, 1 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
speckled corneal dystrophy (white flecks in corneal stroma)
minor photophobia
normal vision


Clinical features from OMIM:

121850

Human phenotypes related to Corneal Dystrophy, Fleck:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 speckled corneal dystrophy 32 HP:0007962

MGI Mouse Phenotypes related to Corneal Dystrophy, Fleck:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 MAP1B PIKFYVE PLCD1 PTPRG TSC1 TSC2

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 29 PIKFYVE

Anatomical Context for Corneal Dystrophy, Fleck

MalaCards organs/tissues related to Corneal Dystrophy, Fleck:

41
Eye, Lung, Kidney, Liver, Heart, T Cells, B 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 Francois-Neetens mouchetee 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:

75
# 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.3308A> G (p.Lys1103Arg) single nucleotide variant Pathogenic rs121918336 GRCh37 Chromosome 2, 209190843: 209190843
2 PIKFYVE NM_015040.3(PIKFYVE): c.3308A> G (p.Lys1103Arg) single nucleotide variant Pathogenic rs121918336 GRCh38 Chromosome 2, 208326119: 208326119
3 PIKFYVE NM_015040.3(PIKFYVE): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs121918337 GRCh37 Chromosome 2, 209190497: 209190497
4 PIKFYVE NM_015040.3(PIKFYVE): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs121918337 GRCh38 Chromosome 2, 208325773: 208325773
5 PIKFYVE NM_015040.3(PIKFYVE): c.4167_4170delAGTA (p.Glu1389Aspfs*16) deletion Pathogenic rs387907335 GRCh37 Chromosome 2, 209200054: 209200057
6 PIKFYVE NM_015040.3(PIKFYVE): c.4167_4170delAGTA (p.Glu1389Aspfs*16) deletion Pathogenic rs387907335 GRCh38 Chromosome 2, 208335330: 208335333
7 PIKFYVE NM_015040.3(PIKFYVE): c.3500C> G (p.Ser1167Ter) single nucleotide variant Likely pathogenic rs780579562 GRCh37 Chromosome 2, 209191035: 209191035
8 PIKFYVE NM_015040.3(PIKFYVE): c.3500C> G (p.Ser1167Ter) single nucleotide variant Likely pathogenic rs780579562 GRCh38 Chromosome 2, 208326311: 208326311
9 PIKFYVE NM_015040.3(PIKFYVE): c.5511T> C (p.Ile1837=) single nucleotide variant Benign rs13020468 GRCh38 Chromosome 2, 208350847: 208350847
10 PIKFYVE NM_015040.3(PIKFYVE): c.5511T> C (p.Ile1837=) single nucleotide variant Benign rs13020468 GRCh37 Chromosome 2, 209215571: 209215571
11 PIKFYVE NM_015040.3(PIKFYVE): c.5526A> G (p.Glu1842=) single nucleotide variant Benign rs994697 GRCh38 Chromosome 2, 208350862: 208350862
12 PIKFYVE NM_015040.3(PIKFYVE): c.5526A> G (p.Glu1842=) single nucleotide variant Benign rs994697 GRCh37 Chromosome 2, 209215586: 209215586
13 PIKFYVE NM_015040.3(PIKFYVE): c.*240C> T single nucleotide variant Likely benign rs567925149 GRCh38 Chromosome 2, 208355545: 208355545
14 PIKFYVE NM_015040.3(PIKFYVE): c.*240C> T single nucleotide variant Likely benign rs567925149 GRCh37 Chromosome 2, 209220269: 209220269
15 PIKFYVE NM_015040.3(PIKFYVE): c.*1001G> T single nucleotide variant Uncertain significance rs886055541 GRCh37 Chromosome 2, 209221030: 209221030
16 PIKFYVE NM_015040.3(PIKFYVE): c.*1001G> T single nucleotide variant Uncertain significance rs886055541 GRCh38 Chromosome 2, 208356306: 208356306
17 PIKFYVE NM_015040.3(PIKFYVE): c.*1262T> G single nucleotide variant Benign rs6725527 GRCh37 Chromosome 2, 209221291: 209221291
18 PIKFYVE NM_015040.3(PIKFYVE): c.*1262T> G single nucleotide variant Benign rs6725527 GRCh38 Chromosome 2, 208356567: 208356567
19 PIKFYVE NM_015040.3(PIKFYVE): c.*1973_*1974insA insertion Likely benign rs199859183 GRCh37 Chromosome 2, 209222002: 209222003
20 PIKFYVE NM_015040.3(PIKFYVE): c.*1973_*1974insA insertion Likely benign rs199859183 GRCh38 Chromosome 2, 208357278: 208357279
21 PIKFYVE NM_015040.3(PIKFYVE): c.*2143G> C single nucleotide variant Likely benign rs184529823 GRCh38 Chromosome 2, 208357448: 208357448
22 PIKFYVE NM_015040.3(PIKFYVE): c.*2143G> C single nucleotide variant Likely benign rs184529823 GRCh37 Chromosome 2, 209222172: 209222172
23 PIKFYVE NM_015040.3(PIKFYVE): c.*2185C> G single nucleotide variant Benign rs59149007 GRCh38 Chromosome 2, 208357490: 208357490
24 PIKFYVE NM_015040.3(PIKFYVE): c.*2185C> G single nucleotide variant Benign rs59149007 GRCh37 Chromosome 2, 209222214: 209222214
25 PIKFYVE NM_015040.3(PIKFYVE): c.*2218A> T single nucleotide variant Uncertain significance rs886055546 GRCh38 Chromosome 2, 208357523: 208357523
26 PIKFYVE NM_015040.3(PIKFYVE): c.*2218A> T single nucleotide variant Uncertain significance rs886055546 GRCh37 Chromosome 2, 209222247: 209222247
27 PIKFYVE NM_015040.3(PIKFYVE): c.*2281delG deletion Benign rs56993638 GRCh38 Chromosome 2, 208357586: 208357586
28 PIKFYVE NM_015040.3(PIKFYVE): c.*2281delG deletion Benign rs56993638 GRCh37 Chromosome 2, 209222310: 209222310
29 PIKFYVE NM_015040.3(PIKFYVE): c.*3099_*3100insGTTTTTTTT insertion Uncertain significance rs886055547 GRCh38 Chromosome 2, 208358404: 208358405
30 PIKFYVE NM_015040.3(PIKFYVE): c.*3099_*3100insGTTTTTTTT insertion Uncertain significance rs886055547 GRCh37 Chromosome 2, 209223128: 209223129
31 PIKFYVE NM_015040.3(PIKFYVE): c.*3324A> G single nucleotide variant Likely benign rs114476866 GRCh38 Chromosome 2, 208358629: 208358629
32 PIKFYVE NM_015040.3(PIKFYVE): c.*3324A> G single nucleotide variant Likely benign rs114476866 GRCh37 Chromosome 2, 209223353: 209223353
33 PIKFYVE NM_015040.3(PIKFYVE): c.173-11C> T single nucleotide variant Benign rs4675744 GRCh38 Chromosome 2, 208273573: 208273573
34 PIKFYVE NM_015040.3(PIKFYVE): c.173-11C> T single nucleotide variant Benign rs4675744 GRCh37 Chromosome 2, 209138297: 209138297
35 PIKFYVE NM_015040.3(PIKFYVE): c.1051-10G> T single nucleotide variant Uncertain significance rs769292195 GRCh38 Chromosome 2, 208300927: 208300927
36 PIKFYVE NM_015040.3(PIKFYVE): c.1051-10G> T single nucleotide variant Uncertain significance rs769292195 GRCh37 Chromosome 2, 209165651: 209165651
37 PIKFYVE NM_015040.3(PIKFYVE): c.1621C> A (p.Pro541Thr) single nucleotide variant Uncertain significance rs886055531 GRCh38 Chromosome 2, 208304998: 208304998
38 PIKFYVE NM_015040.3(PIKFYVE): c.1621C> A (p.Pro541Thr) single nucleotide variant Uncertain significance rs886055531 GRCh37 Chromosome 2, 209169722: 209169722
39 PIKFYVE NM_015040.3(PIKFYVE): c.1928A> G (p.Gln643Arg) single nucleotide variant Uncertain significance rs886055532 GRCh38 Chromosome 2, 208315294: 208315294
40 PIKFYVE NM_015040.3(PIKFYVE): c.1928A> G (p.Gln643Arg) single nucleotide variant Uncertain significance rs886055532 GRCh37 Chromosome 2, 209180018: 209180018
41 PIKFYVE NM_015040.3(PIKFYVE): c.-157A> T single nucleotide variant Uncertain significance rs886055529 GRCh37 Chromosome 2, 209130992: 209130992
42 PIKFYVE NM_015040.3(PIKFYVE): c.2008_2190del183 (p.Ile670_Gln730del) deletion Pathogenic
43 PIKFYVE NM_015040.3(PIKFYVE): c.3150dupA (p.Asp1051Argfs) duplication Pathogenic rs869312464 GRCh38 Chromosome 2, 208325961: 208325961
44 PIKFYVE NM_015040.3(PIKFYVE): c.3150dupA (p.Asp1051Argfs) duplication Pathogenic rs869312464 GRCh37 Chromosome 2, 209190685: 209190685
45 PIKFYVE NM_015040.3(PIKFYVE): c.5397A> G (p.Thr1799=) single nucleotide variant Benign rs2118297 GRCh37 Chromosome 2, 209214770: 209214770
46 PIKFYVE NM_015040.3(PIKFYVE): c.5397A> G (p.Thr1799=) single nucleotide variant Benign rs2118297 GRCh38 Chromosome 2, 208350046: 208350046
47 PIKFYVE NM_015040.3(PIKFYVE): c.5334G> A (p.Thr1778=) single nucleotide variant Benign rs2304545 GRCh37 Chromosome 2, 209212707: 209212707
48 PIKFYVE NM_015040.3(PIKFYVE): c.5334G> A (p.Thr1778=) single nucleotide variant Benign rs2304545 GRCh38 Chromosome 2, 208347983: 208347983
49 PIKFYVE NM_015040.3(PIKFYVE): c.4774G> A (p.Gly1592Arg) single nucleotide variant Likely benign rs148994064 GRCh37 Chromosome 2, 209204243: 209204243
50 PIKFYVE NM_015040.3(PIKFYVE): c.4774G> A (p.Gly1592Arg) single nucleotide variant Likely benign rs148994064 GRCh38 Chromosome 2, 208339519: 208339519

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:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Phagosome hsa04145
4 Regulation of actin cytoskeleton hsa04810

Pathways related to Corneal Dystrophy, Fleck according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 AKT3 MICB TSC1 TSC2
2
Show member pathways
12.24 AKT3 TSC1 TSC2
3
Show member pathways
12.14 AKT3 TSC1 TSC2
4
Show member pathways
12.09 AKT3 TSC1 TSC2
5
Show member pathways
12.07 AKT3 TSC1 TSC2
6
Show member pathways
11.96 AKT3 TSC1 TSC2
7
Show member pathways
11.92 AKT3 TSC1 TSC2
8
Show member pathways
11.84 AKT3 TSC1 TSC2
9 11.79 AKT3 TSC1 TSC2
10 11.78 AKT3 TSC1 TSC2
11
Show member pathways
11.72 AKT3 TSC1 TSC2
12 11.6 AKT3 TSC1 TSC2
13 11.5 AKT3 PLCD1 TSC2
14 11.33 TSC1 TSC2
15 11.3 AKT3 TSC1 TSC2
16 11.28 PLCD1 TSC2
17 11.25 TSC1 TSC2
18 11.23 AKT3 PLCD1
19 11.16 TSC1 TSC2
20 11.06 AKT3 TSC1 TSC2
21 11.03 TSC1 TSC2
22 10.97 AKT3 PLCD1 TSC1 TSC2

GO Terms for Corneal Dystrophy, Fleck

Cellular components related to Corneal Dystrophy, Fleck according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.13 MAP1B TSC1 TSC2
2 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Corneal Dystrophy, Fleck according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of TOR signaling GO:0032007 9.16 TSC1 TSC2
2 negative regulation of insulin receptor signaling pathway GO:0046627 8.96 TSC1 TSC2
3 positive regulation of macroautophagy GO:0016239 8.62 TSC1 TSC2

Molecular functions related to Corneal Dystrophy, Fleck according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.96 TSC1 TSC2
2 GTPase activating protein binding GO:0032794 8.62 PLCD1 TSC1

Sources for Corneal Dystrophy, Fleck

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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