MCD
MCID: MCL075
MIFTS: 55

Macular Dystrophy, Corneal (MCD)

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

Aliases & Classifications for Macular Dystrophy, Corneal

MalaCards integrated aliases for Macular Dystrophy, Corneal:

Name: Macular Dystrophy, Corneal 57 72
Macular Corneal Dystrophy 57 12 73 58 36 29 13 6 15 70
Groenouw Type Ii Corneal Dystrophy 57 20 72
Corneal Dystrophy, Macular Type 57 20 54
Mcd 57 58 72
Macular Corneal Dystrophy, Type Ii 29 6
Macular Dystrophy, Corneal Type 1 20 70
Macular Corneal Dystrophy Type Ii 72 70
Fehr Corneal Dystrophy 12 58
Mcdc1 20 72
Corneal Dystrophy Groenouw Type Ii 58
Macular Corneal Dystrophy, Type I 57
Macular Corneal Dystrophy Type 1 20
Macular Corneal Dystrophy Type I 72
Corneal Dystrophy Macular Type 72
Macular Dystrophy, Corneal, 1 12
Dystrophy, Macular, Corneal 39
Mcdc1, Formerly 57

Characteristics:

Orphanet epidemiological data:

58
macular corneal dystrophy
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
macular dystrophy, corneal:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:2565
OMIM® 57 217800
KEGG 36 H00954
ICD9CM 34 371.55
MeSH 44 D003317
NCIt 50 C34793
SNOMED-CT 67 60258001
ICD10 32 H18.55
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 71 C0024439 C1636149
Orphanet 58 ORPHA98969
UMLS 70 C0024439 C1636149 C1691013

Summaries for Macular Dystrophy, Corneal

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98969 Definition Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. Epidemiology Prevalence of this form of corneal dystrophy is not known. Cases of MCD have been identified worldwide. The condition is most prevalent in India, Saudi Arabia, Iceland and parts of the USA. Clinical description Whitish opacities in the cornea usually appear during adolescence but may develop in early infancy, or as late as the 6th decade of life. The non-transparent areas progressively merge as the entire corneal stroma becomes cloudy, causing severe visual impairment usually before the 5th decade. The bilateral corneal opacities progressively extend through the entire thickness of the central and peripheral corneal stroma. The corneal stroma is thinner than normal. Etiology Most cases of MCD are caused by mutations in the CHST6 gene (16q22) encoding a protein involved in the production of keratan sulfate, which plays a role in the maintenance of corneal transparency. More than 125 mutations in this gene have been identified to date. Diagnostic methods MCD is characterized histopathologically by intracytoplasmic accumulations of non-sulfated keratan sulfate within the keratocytes and corneal endothelium, sparing the corneal epithelium. MCD is classified as a corneal stromal dystrophy but also involves the Descemet membrane and the corneal endothelium. Differential diagnosis The clinical features of MCD are similar to the corneal involvement found in the systemic mucopolysaccharidoses, such as mucopolysaccharidosis type IH and IS and the mucolipidoses (see these terms). Genetic counseling An autosomal recessive mode of inheritance has been shown in most cases, but some cases are of unknown etiology. Management and treatment Since the condition affects the entire corneal stroma, Descemet membrane and corneal endothelium, lamellar keratoplasty does not excise all damaged tissue. Corneal transplantation may therefore be needed. Vision can be restored by corneal grafting but opacities may recur in the graft after many years.

MalaCards based summary : Macular Dystrophy, Corneal, also known as macular corneal dystrophy, is related to corneal dystrophy, meesmann, 1 and astigmatism. An important gene associated with Macular Dystrophy, Corneal is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - keratan sulfate and Metabolism. The drugs Fomepizole and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and skin, and related phenotypes are corneal crystals and punctate opacification of the cornea

Disease Ontology : 12 A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.

OMIM® : 57 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). (217800) (Updated 05-Apr-2021)

KEGG : 36 Macular corneal dystrophy (MCD), inherited in an autosomal recessive fashion, is the least common but severe form of stromal dystrophy characterized by superficial gray-white corneal opacities that progressively increase to involve the entire corneal stroma from limbus to limbus. Patients experience progressive decreased vision and irritation as the diseases worsens, and will have vision severely affected by the third to fourth decade of life. It has been shown that a specific sulfation step in the production of keratan sulfate, the major glycosaminoglycan of the corneal stroma, is impaired in MCD. This results in the accumulation of glycosaminoglycans that form the abnormal deposits. Mutations in the CHST6 gene, which encodes an enzyme that catalyzes the sulfation of keratan sulfate, are responsible for most cases of MCD.

UniProtKB/Swiss-Prot : 72 Macular dystrophy, corneal: An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined.

Wikipedia : 73 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Related Diseases for Macular Dystrophy, Corneal

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

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, meesmann, 1 30.9 UBIAD1 TGFBI KRT3 KRT12 CHST6
2 astigmatism 30.6 KRT3 KRT12 KERA
3 keratoconus 30.4 TGFBI KRT3 KRT12 KERA
4 irregular astigmatism 30.1 TGFBI KRT3 KRT12 KERA
5 corneal disease 29.4 UBIAD1 TGFBI LUM KRT3 KRT12 KERA
6 stromal dystrophy 28.7 UBIAD1 TGFBI LUM KRT3 KRT12 KERA
7 corneal dystrophy 28.3 UBIAD1 TGFBI LUM KRT3 KRT12 KERA
8 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.6
9 multicentric castleman disease 11.5
10 malonyl-coa decarboxylase deficiency 11.5
11 multiple carboxylase deficiency 11.4
12 holocarboxylase synthetase deficiency 11.4
13 biotinidase deficiency 11.3
14 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
15 lipoid nephrosis 11.0
16 c1q nephropathy 11.0
17 kaposi sarcoma 10.9
18 cortical malformations, occipital 10.9
19 focal segmental glomerulosclerosis 10 10.9
20 microlissencephaly 10.9
21 autosomal recessive disease 10.5
22 non-alcoholic fatty liver disease 10.5
23 non-alcoholic steatohepatitis 10.4
24 fatty liver disease 10.3
25 fatty liver disease, nonalcoholic 1 10.3
26 ocular hyperemia 10.2 TGFBI CHST5
27 mucopolysaccharidosis-plus syndrome 10.2
28 castleman disease 10.2
29 interstitial keratitis 10.2 TGFBI DCN
30 metaphyseal chondrodysplasia, schmid type 10.1
31 focal segmental glomerulosclerosis 10.1
32 yemenite deaf-blind hypopigmentation syndrome 10.1
33 ifap syndrome 2 10.1
34 myopia 10.1
35 mucopolysaccharidoses 10.1
36 corneal ulcer 10.1 KRT3 KERA
37 sarcoma 10.1
38 spindle cell sarcoma 10.1
39 limbal stem cell deficiency 10.1 KRT3 KRT12
40 pseudopterygium 10.1 KRT3 KRT12
41 epithelial basement membrane dystrophy 10.1 TGFBI KRT3 CHST6
42 stromal corneal dystrophy 10.0 UBIAD1 TGFBI DCN
43 corneal ectasia 10.0 TGFBI KRT3 KERA
44 corneal edema 10.0 TGFBI KRT3 KERA
45 nephrotic syndrome 10.0
46 glomerulonephritis 10.0
47 liver disease 10.0
48 cytokine deficiency 10.0
49 kshv inflammatory cytokine syndrome 10.0
50 lymphoma aids related 10.0

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



Diseases related to Macular Dystrophy, Corneal

Symptoms & Phenotypes for Macular Dystrophy, Corneal

Human phenotypes related to Macular Dystrophy, Corneal:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal crystals 58 31 hallmark (90%) Very frequent (99-80%) HP:0000531
2 punctate opacification of the cornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0007856
3 abnormality of metabolism/homeostasis 31 hallmark (90%) HP:0001939
4 severely reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0001141
5 recurrent corneal erosions 58 31 frequent (33%) Frequent (79-30%) HP:0000495
6 decreased corneal thickness 58 31 frequent (33%) Frequent (79-30%) HP:0100689
7 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
8 decreased corneal sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012155
9 ocular pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0200026
10 hyperopic astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000484
11 opacification of the corneal stroma 58 Very frequent (99-80%)
12 corneal dystrophy 31 HP:0001131
13 macular dystrophy 31 HP:0007754
14 abnormality of proteoglycan metabolism 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
photophobia
recurrent corneal erosions
macular corneal dystrophy
minute, gray, punctate corneal opacities
corneal sensitivity reduced
more
Lab:
acid mucopolysaccharides demonstrable in corneal fibroblasts

Misc:
onset in first decade

Clinical features from OMIM®:

217800 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Macular Dystrophy, Corneal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 B3GNT7 CHST6 DCN FMOD KERA KRT12

Drugs & Therapeutics for Macular Dystrophy, Corneal

Drugs for Macular Dystrophy, Corneal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
2 Protective Agents Phase 1
3 Antidotes Phase 1
4 Anesthetics
5 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Interventions Against Stargardt Macular Dystrophy: Phase 1 Pilot Study of 4-MP as an Inhibitor of Dark Adaptation Completed NCT00346853 Phase 1 4-Methylpyrazole
2 Fresh Corneal Lenticule Implantation in Macular Corneal Distrophy With Relex-Smile Surgery Enrolling by invitation NCT04642729

Search NIH Clinical Center for Macular Dystrophy, Corneal

Genetic Tests for Macular Dystrophy, Corneal

Genetic tests related to Macular Dystrophy, Corneal:

# Genetic test Affiliating Genes
1 Macular Corneal Dystrophy, Type Ii 29
2 Macular Corneal Dystrophy 29

Anatomical Context for Macular Dystrophy, Corneal

MalaCards organs/tissues related to Macular Dystrophy, Corneal:

40
Eye, Endothelial, Skin

Publications for Macular Dystrophy, Corneal

Articles related to Macular Dystrophy, Corneal:

(show top 50) (show all 194)
# Title Authors PMID Year
1
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. 6 57 61
26604660 2015
2
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. 61 57 6
11818380 2002
3
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 57 6 61
11017086 2000
4
Phenotype and genotype analysis in patients with macular corneal dystrophy. 61 6
24926691 2014
5
Macular corneal dystrophy and associated corneal thinning. 61 6
25081284 2014
6
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. 6 61
20539220 2010
7
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. 6 61
19365571 2009
8
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. 6 61
18500531 2008
9
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. 6 61
17962390 2008
10
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. 61 6
16568029 2006
11
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. 57 61
16207214 2005
12
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. 61 6
15652851 2005
13
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 6 61
15013869 2004
14
Novel mutations in the CHST6 gene causing macular corneal dystrophy. 61 6
14984470 2004
15
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. 61 6
12824236 2003
16
Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. 61 6
11278593 2001
17
Decreased GlcNAc 6-O-sulfotransferase activity in the cornea with macular corneal dystrophy. 57 61
11053262 2000
18
Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients. 57 61
8684802 1996
19
Linkage of a gene for macular corneal dystrophy to chromosome 16. 61 57
8644739 1996
20
Heterogeneity in macular corneal dystrophy. 57 61
3056354 1988
21
Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. 57 61
3293458 1988
22
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. 61 57
2946233 1986
23
Defective processing of keratan sulfate in macular corneal dystrophy. 61 57
6238957 1984
24
Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan. 61 57
6447876 1980
25
Macular corneal dystrophy. Studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures. 61 57
143892 1977
26
MACULAR CORNEAL DYSTROPHY. AN INHERITED ACID MUCOPOLYSACCHARIDE STORAGE DISEASE OF THE CORNEAL FIBROBLAST. 57 61
14217673 1964
27
Effects of tunicamycin on the biosynthesis of glycosaminoglycans by embryonic chick cornea. 57
566755 1978
28
[Groenouw type II keratitis: Sicilian isolate, probable consanguinity, autosomal recessive transmission]. 57
1025262 1976
29
Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism. 57
4220922 1965
30
Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea. 57
13790593 1961
31
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. 61 54
17093400 2006
32
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. 61 54
15953452 2005
33
Comment on: Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. 61
33097173 2020
34
Reply to Comment on: Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. 61
33097172 2020
35
Macular Corneal Dystrophy: An Updated Review. 61
33171054 2020
36
CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system. 61
32472422 2020
37
Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature. 61
32543930 2020
38
Characterization of In Vivo Biomechanical Properties in Macular Corneal Dystrophy. 61
32205123 2020
39
Phototherapeutic Keratectomy in Macular and Granular Dystrophy: Two-year Results. 61
32529934 2020
40
Impairment of the autophagy-lysosomal pathway and activation of pyroptosis in macular corneal dystrophy. 61
32983576 2020
41
Recurrence of macular corneal dystrophy on the graft 50 years after penetrating keratoplasty. 61
32884888 2020
42
Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. 61
31799478 2019
43
Clinical diversity in macular corneal dystrophy: an optical coherence tomography study. 61
31161334 2019
44
Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations. 61
31669782 2019
45
Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy - A comparative cross-sectional study. 61
31638043 2019
46
[Corneal dystrophies in optical coherence tomography]. 61
30539228 2019
47
Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. 61
30701649 2019
48
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy. 61
30716718 2019
49
Atypical presentation of macular corneal dystrophy managed by Descemet stripping endothelial keratoplasty. 61
30574906 2019
50
Triple chamber: a clinical rarity after deep anterior lamellar keratoplasty and role of optical coherence tomography in management. 61
29086324 2018

Variations for Macular Dystrophy, Corneal

ClinVar genetic disease variations for Macular Dystrophy, Corneal:

6 (show top 50) (show all 210)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST6 CHST6, REPLACEMENT OF 5-PRIME REGION Variation Pathogenic 5073 GRCh37:
GRCh38:
2 CHST6 CHST6, DELETION OF 5-PRIME REGION Deletion Pathogenic 5074 GRCh37:
GRCh38:
3 CHST6 NM_021615.5(CHST6):c.521A>G (p.Lys174Arg) SNV Pathogenic 5071 rs28937877 GRCh37: 16:75513206-75513206
GRCh38: 16:75479308-75479308
4 CHST6 NM_021615.5(CHST6):c.609C>A (p.Asp203Glu) SNV Pathogenic 5072 rs28937878 GRCh37: 16:75513118-75513118
GRCh38: 16:75479220-75479220
5 CHST6 NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) SNV Pathogenic 5076 rs121917822 GRCh37: 16:75513423-75513423
GRCh38: 16:75479525-75479525
6 CHST6 NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys) SNV Pathogenic 5077 rs72547544 GRCh37: 16:75513398-75513398
GRCh38: 16:75479500-75479500
7 CHST6 NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) SNV Pathogenic 5078 rs121917824 GRCh37: 16:75512900-75512900
GRCh38: 16:75479002-75479002
8 CHST6 NM_021615.5(CHST6):c.277C>A (p.Arg93Ser) SNV Pathogenic 5079 rs121917826 GRCh37: 16:75513450-75513450
GRCh38: 16:75479552-75479552
9 CHST6 NM_021615.5(CHST6):c.892C>T (p.Gln298Ter) SNV Pathogenic 320606 rs886052321 GRCh37: 16:75512835-75512835
GRCh38: 16:75478937-75478937
10 CHST6 NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) SNV Pathogenic 5075 rs28937879 GRCh37: 16:75513128-75513128
GRCh38: 16:75479230-75479230
11 CHST6 NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) SNV Pathogenic 5075 rs28937879 GRCh37: 16:75513128-75513128
GRCh38: 16:75479230-75479230
12 CHST6 NM_021615.5(CHST6):c.349del (p.Leu117fs) Deletion Pathogenic 1029815 GRCh37: 16:75513378-75513378
GRCh38: 16:75479480-75479480
13 CHST6 NM_021615.5(CHST6):c.231G>A (p.Trp77Ter) SNV Pathogenic 1032878 GRCh37: 16:75513496-75513496
GRCh38: 16:75479598-75479598
14 CHST6 NM_021615.5(CHST6):c.898G>T (p.Glu300Ter) SNV Pathogenic 1032879 GRCh37: 16:75512829-75512829
GRCh38: 16:75478931-75478931
15 CHST6 NM_021615.5(CHST6):c.993G>T (p.Gln331His) SNV Conflicting interpretations of pathogenicity 196507 rs140699573 GRCh37: 16:75512734-75512734
GRCh38: 16:75478836-75478836
16 CHST6 NM_021615.5(CHST6):c.*3490T>C SNV Uncertain significance 320536 rs886052301 GRCh37: 16:75509049-75509049
GRCh38: 16:75475151-75475151
17 CHST6 NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) SNV Uncertain significance 547956 rs1443299574 GRCh37: 16:75513641-75513641
GRCh38: 16:75479743-75479743
18 CHST6 NM_021615.5(CHST6):c.392C>T (p.Ser131Leu) SNV Uncertain significance 631758 rs375059043 GRCh37: 16:75513335-75513335
GRCh38: 16:75479437-75479437
19 CHST6 NM_021615.5(CHST6):c.196G>C (p.Val66Leu) SNV Uncertain significance 631759 rs72547547 GRCh37: 16:75513531-75513531
GRCh38: 16:75479633-75479633
20 CHST6 NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) SNV Uncertain significance 631760 rs753928736 GRCh37: 16:75513721-75513721
GRCh38: 16:75479823-75479823
21 CHST6 NM_021615.5(CHST6):c.*4981C>T SNV Uncertain significance 884781 GRCh37: 16:75507558-75507558
GRCh38: 16:75473660-75473660
22 CHST6 NM_021615.5(CHST6):c.*4942C>T SNV Uncertain significance 884782 GRCh37: 16:75507597-75507597
GRCh38: 16:75473699-75473699
23 CHST6 NM_021615.5(CHST6):c.*4749G>T SNV Uncertain significance 884783 GRCh37: 16:75507790-75507790
GRCh38: 16:75473892-75473892
24 CHST6 NM_021615.5(CHST6):c.*4589C>T SNV Uncertain significance 884784 GRCh37: 16:75507950-75507950
GRCh38: 16:75474052-75474052
25 CHST6 NM_021615.5(CHST6):c.*3814C>G SNV Uncertain significance 884851 GRCh37: 16:75508725-75508725
GRCh38: 16:75474827-75474827
26 CHST6 NM_021615.5(CHST6):c.*2450C>G SNV Uncertain significance 884931 GRCh37: 16:75510089-75510089
GRCh38: 16:75476191-75476191
27 CHST6 NM_021615.5(CHST6):c.1124T>G (p.Val375Gly) SNV Uncertain significance 885062 GRCh37: 16:75512603-75512603
GRCh38: 16:75478705-75478705
28 CHST6 NM_021615.5(CHST6):c.1113C>G (p.Ala371=) SNV Uncertain significance 885063 GRCh37: 16:75512614-75512614
GRCh38: 16:75478716-75478716
29 CHST6 NM_021615.5(CHST6):c.1101G>A (p.Gln367=) SNV Uncertain significance 885064 GRCh37: 16:75512626-75512626
GRCh38: 16:75478728-75478728
30 CHST6 NM_021615.5(CHST6):c.7C>A (p.Leu3Met) SNV Uncertain significance 885142 GRCh37: 16:75513720-75513720
GRCh38: 16:75479822-75479822
31 CHST6 NM_021615.5(CHST6):c.*4574G>C SNV Uncertain significance 885721 GRCh37: 16:75507965-75507965
GRCh38: 16:75474067-75474067
32 CHST6 NM_021615.5(CHST6):c.*4573C>T SNV Uncertain significance 885722 GRCh37: 16:75507966-75507966
GRCh38: 16:75474068-75474068
33 CHST6 NM_021615.5(CHST6):c.*4566A>G SNV Uncertain significance 885723 GRCh37: 16:75507973-75507973
GRCh38: 16:75474075-75474075
34 CHST6 NM_021615.5(CHST6):c.*4494G>C SNV Uncertain significance 885724 GRCh37: 16:75508045-75508045
GRCh38: 16:75474147-75474147
35 CHST6 NM_021615.5(CHST6):c.*4460T>G SNV Uncertain significance 885725 GRCh37: 16:75508079-75508079
GRCh38: 16:75474181-75474181
36 CHST6 NM_021615.5(CHST6):c.*3656C>A SNV Uncertain significance 885776 GRCh37: 16:75508883-75508883
GRCh38: 16:75474985-75474985
37 CHST6 NM_021615.5(CHST6):c.*3608A>C SNV Uncertain significance 885777 GRCh37: 16:75508931-75508931
GRCh38: 16:75475033-75475033
38 CHST6 NM_021615.5(CHST6):c.*3602C>T SNV Uncertain significance 885778 GRCh37: 16:75508937-75508937
GRCh38: 16:75475039-75475039
39 CHST6 NM_021615.5(CHST6):c.*3547C>T SNV Uncertain significance 885779 GRCh37: 16:75508992-75508992
GRCh38: 16:75475094-75475094
40 CHST6 NM_021615.5(CHST6):c.*2131C>T SNV Uncertain significance 885854 GRCh37: 16:75510408-75510408
GRCh38: 16:75476510-75476510
41 CHST6 NM_021615.5(CHST6):c.*2050G>A SNV Uncertain significance 885855 GRCh37: 16:75510489-75510489
GRCh38: 16:75476591-75476591
42 CHST6 NM_021615.5(CHST6):c.*824G>A SNV Uncertain significance 885913 GRCh37: 16:75511715-75511715
GRCh38: 16:75477817-75477817
43 CHST6 NM_021615.5(CHST6):c.*818G>A SNV Uncertain significance 885914 GRCh37: 16:75511721-75511721
GRCh38: 16:75477823-75477823
44 CHST6 NM_021615.5(CHST6):c.*5452G>C SNV Uncertain significance 320504 rs886052293 GRCh37: 16:75507087-75507087
GRCh38: 16:75473189-75473189
45 CHST6 NM_021615.5(CHST6):c.*2652C>T SNV Uncertain significance 320547 rs548748758 GRCh37: 16:75509887-75509887
GRCh38: 16:75475989-75475989
46 CHST6 NM_021615.5(CHST6):c.*1758A>T SNV Uncertain significance 320564 rs571537815 GRCh37: 16:75510781-75510781
GRCh38: 16:75476883-75476883
47 CHST6 NM_021615.5(CHST6):c.857C>T (p.Ala286Val) SNV Uncertain significance 320607 rs751949248 GRCh37: 16:75512870-75512870
GRCh38: 16:75478972-75478972
48 CHST6 NM_021615.5(CHST6):c.*751C>T SNV Uncertain significance 320587 rs780235353 GRCh37: 16:75511788-75511788
GRCh38: 16:75477890-75477890
49 CHST6 NM_021615.5(CHST6):c.*4085C>T SNV Uncertain significance 320524 rs144466579 GRCh37: 16:75508454-75508454
GRCh38: 16:75474556-75474556
50 CHST6 NM_021615.5(CHST6):c.987C>T (p.Val329=) SNV Uncertain significance 320604 rs369751938 GRCh37: 16:75512740-75512740
GRCh38: 16:75478842-75478842

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

72 (show top 50) (show all 57)
# Symbol AA change Variation ID SNP ID
1 CHST6 p.Leu15Pro VAR_021417
2 CHST6 p.Leu22Arg VAR_021418 rs68043642
3 CHST6 p.Pro31Ser VAR_021419 rs72547549
4 CHST6 p.His42Tyr VAR_021420
5 CHST6 p.Arg50Cys VAR_021421 rs28937877
6 CHST6 p.Ser51Leu VAR_021422 rs370335460
7 CHST6 p.Gly52Asp VAR_021423
8 CHST6 p.Ser53Leu VAR_021424
9 CHST6 p.Leu59Pro VAR_021425
10 CHST6 p.Asn61Thr VAR_021426 rs72547548
11 CHST6 p.Val66Leu VAR_021427 rs72547547
12 CHST6 p.Tyr68His VAR_021428 rs775742450
13 CHST6 p.Met70Leu VAR_021429
14 CHST6 p.Pro72Ser VAR_021430 rs377617168
15 CHST6 p.Val76Met VAR_021431
16 CHST6 p.Arg93His VAR_021432
17 CHST6 p.Arg97Pro VAR_021433 rs72547546
18 CHST6 p.Ser98Trp VAR_021434
19 CHST6 p.Cys102Gly VAR_021435 rs121917822
20 CHST6 p.Cys102Tyr VAR_021436
21 CHST6 p.Met104Val VAR_021437 rs115809302
22 CHST6 p.Phe107Ser VAR_021438 rs72547545
23 CHST6 p.Tyr110Cys VAR_021439 rs72547544
24 CHST6 p.Phe121Leu VAR_021440 rs126531025
25 CHST6 p.Gln122Pro VAR_021441 rs758105699
26 CHST6 p.Arg127Cys VAR_021442
27 CHST6 p.Ala128Val VAR_021443 rs72547543
28 CHST6 p.Ser131Pro VAR_021444
29 CHST6 p.Leu152Pro VAR_021445 rs142954809
30 CHST6 p.Arg162Gly VAR_021446 rs117435647
31 CHST6 p.Arg166Pro VAR_021447 rs72547542
32 CHST6 p.Lys174Arg VAR_021448 rs28937877
33 CHST6 p.Arg177His VAR_021449
34 CHST6 p.Val198Glu VAR_021450
35 CHST6 p.Leu200Arg VAR_021451 rs28937879
36 CHST6 p.Arg202Ser VAR_021452
37 CHST6 p.Asp203Glu VAR_021453 rs28937878
38 CHST6 p.Pro204Gln VAR_021454 rs759870075
39 CHST6 p.Arg205Leu VAR_021455
40 CHST6 p.Arg205Gln VAR_021456 rs377706989
41 CHST6 p.Ala206Thr VAR_021457 rs374493344
42 CHST6 p.Ala206Val VAR_021458
43 CHST6 p.Ser210Phe VAR_021459 rs745571211
44 CHST6 p.Arg211Gln VAR_021460 rs771397083
45 CHST6 p.Arg211Trp VAR_021461 rs202175444
46 CHST6 p.Ala217Thr VAR_021462 rs752785520
47 CHST6 p.Asp221Glu VAR_021463
48 CHST6 p.Asp221Tyr VAR_021464
49 CHST6 p.His249Pro VAR_021465 rs72547540
50 CHST6 p.Tyr268Cys VAR_021466 rs72547539

Expression for Macular Dystrophy, Corneal

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

Pathways for Macular Dystrophy, Corneal

Pathways related to Macular Dystrophy, Corneal according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - keratan sulfate hsa00533

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 UBIAD1 LUM KERA FMOD DCN CHST6
2
Show member pathways
12.24 LUM KERA FMOD DCN CHST3 CHST14
3
Show member pathways
12.03 LUM KERA FMOD DCN CHST6 CHST5
4
Show member pathways
11.83 LUM KERA FMOD DCN
5
Show member pathways
11.38 LUM KERA FMOD CHST6 CHST5 B3GNT7
6 11.34 LUM FMOD DCN
7 11.11 FMOD DCN CHST6 CHST5 CHST3
8
Show member pathways
10.82 LUM KERA FMOD

GO Terms for Macular Dystrophy, Corneal

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.88 UBIAD1 CHST6 CHST5 CHST3 CHST14 B3GNT7
2 Golgi membrane GO:0000139 9.73 UBIAD1 CHST6 CHST5 CHST3 CHST14 B3GNT7
3 collagen-containing extracellular matrix GO:0062023 9.67 TGFBI LUM FMOD DCN
4 trans-Golgi network GO:0005802 9.62 TGFBI CHST6 CHST5 CHST3
5 extracellular matrix GO:0031012 9.55 TGFBI LUM KERA FMOD DCN
6 Golgi lumen GO:0005796 9.26 LUM KERA FMOD DCN
7 lysosomal lumen GO:0043202 8.92 LUM KERA FMOD DCN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.67 CHST6 CHST5 CHST3 CHST14
2 extracellular matrix organization GO:0030198 9.65 TGFBI LUM DCN
3 visual perception GO:0007601 9.62 TGFBI LUM KRT12 KERA
4 collagen fibril organization GO:0030199 9.49 LUM FMOD
5 chondroitin sulfate biosynthetic process GO:0030206 9.46 DCN CHST3
6 dermatan sulfate biosynthetic process GO:0030208 9.43 DCN CHST14
7 N-acetylglucosamine metabolic process GO:0006044 9.43 CHST6 CHST5 CHST3
8 cornea development in camera-type eye GO:0061303 9.4 KRT12 KERA
9 sulfur compound metabolic process GO:0006790 9.33 CHST6 CHST5 CHST3
10 keratan sulfate catabolic process GO:0042340 9.13 LUM KERA FMOD
11 keratan sulfate biosynthetic process GO:0018146 9.1 LUM KERA FMOD CHST6 CHST5 B3GNT7

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 UBIAD1 CHST6 CHST5 CHST3 CHST14 B3GNT7
2 collagen binding GO:0005518 9.43 TGFBI LUM DCN
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.33 LUM FMOD DCN
4 extracellular matrix binding GO:0050840 9.32 TGFBI DCN
5 sulfotransferase activity GO:0008146 9.26 CHST6 CHST5 CHST3 CHST14
6 N-acetylglucosamine 6-O-sulfotransferase activity GO:0001517 8.8 CHST6 CHST5 CHST3

Sources for Macular Dystrophy, Corneal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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