MCID: MCL075
MIFTS: 46

Macular Dystrophy, Corneal

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Dystrophy, Corneal

MalaCards integrated aliases for Macular Dystrophy, Corneal:

Name: Macular Dystrophy, Corneal 57 75
Macular Corneal Dystrophy 57 12 76 59 37 13 15 73
Groenouw Type Ii Corneal Dystrophy 57 53 75
Macular Corneal Dystrophy Type I 75 29 6
Corneal Dystrophy, Macular Type 57 53 55
Mcd 57 59 75
Macular Corneal Dystrophy, Type Ii 29 6
Macular Dystrophy, Corneal Type 1 53 73
Macular Corneal Dystrophy Type Ii 75 73
Fehr Corneal Dystrophy 12 59
Mcdc1 53 75
Corneal Dystrophy Groenouw Type Ii 59
Macular Corneal Dystrophy, Type I 57
Macular Corneal Dystrophy Type 1 53
Corneal Dystrophy Macular Type 75
Macular Dystrophy, Corneal, 1 12
Dystrophy, Macular, Corneal 40
Mcdc1, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
macular corneal dystrophy
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
macular dystrophy, corneal:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 217800
Disease Ontology 12 DOID:2565
ICD10 33 H18.55
ICD9CM 35 371.55
MeSH 44 D003317
NCIt 50 C34793
SNOMED-CT 68 60258001
Orphanet 59 ORPHA98969
UMLS via Orphanet 74 C1636149 C0024439
ICD10 via Orphanet 34 H18.5
KEGG 37 H00954

Summaries for Macular Dystrophy, Corneal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98969Disease definitionMacular 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.EpidemiologyPrevalence 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 descriptionWhitish 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.EtiologyMost 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 methodsMCD 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 diagnosisThe 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 counselingAn autosomal recessive mode of inheritance has been shown in most cases, but some cases are of unknown etiology.Management and treatmentSince 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.Visit the Orphanet disease page for more resources.

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

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 42)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, meesmann 29.5 CHST6 KRT12 TGFBI
2 corneal dystrophy 28.1 CHST6 KRT12 TGFBI UBIAD1
3 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
4 malonyl-coa decarboxylase deficiency 11.8
5 multicentric castleman disease 11.8
6 multiple carboxylase deficiency 11.8
7 metaphyseal chondrodysplasia, schmid type 11.7
8 kaposi sarcoma 11.6
9 holocarboxylase synthetase deficiency 11.6
10 mousa al din al nassar syndrome 11.6
11 biotinidase deficiency 11.5
12 hypotrichosis, congenital, with juvenile macular dystrophy 11.0
13 focal segmental glomerulosclerosis 11.0
14 c1q nephropathy 11.0
15 metaphyseal dysplasia, spahr type 10.8
16 cortical malformations, occipital 10.8
17 lipoid nephrosis 10.8
18 microlissencephaly 10.8
19 type i 10.4
20 castleman disease 10.1
21 sarcoma 10.0
22 nephrotic syndrome 9.9
23 kshv inflammatory cytokine syndrome 9.9
24 systemic lupus erythematosus 9.8
25 cortical dysplasia, complex, with other brain malformations 7 9.8
26 liver disease 9.8
27 nonalcoholic fatty liver disease 9.8
28 poems syndrome 9.8
29 epilepsy 9.8
30 lupus erythematosus 9.8
31 fatty liver disease 9.8
32 corneal dystrophy, avellino type 9.3 CHST6 SULT1C2 TGFBI
33 corneal degeneration 9.1 KRT12 TGFBI
34 epithelial and subepithelial dystrophy 8.9 CHST6 KRT12 TGFBI
35 epithelial-stromal tgfbi dystrophy 8.9 CHST6 KRT12 TGFBI
36 corneal granular dystrophy 8.9 KRT12 TGFBI UBIAD1
37 keratoconus 8.9 KRT12 TGFBI
38 corneal dystrophy, gelatinous drop-like 8.9 CHST6 KRT12 TGFBI
39 corneal dystrophy, thiel-behnke type 8.8 CHST6 KRT12 TGFBI
40 stromal dystrophy 8.8 CHST6 SULT1C2 TGFBI UBIAD1
41 corneal endothelial dystrophy 8.7 CHST6 KRT12 TGFBI
42 corneal disease 8.4 CHST6 KRT12 TGFBI UBIAD1

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



Diseases related to Macular Dystrophy, Corneal

Symptoms & Phenotypes for Macular Dystrophy, Corneal

Symptoms via clinical synopsis from OMIM:

57
Eyes:
macular corneal dystrophy
minute, gray, punctate corneal opacities
corneal sensitivity reduced
painful attacks
photophobia
more
Lab:
acid mucopolysaccharides demonstrable in corneal fibroblasts

Misc:
onset in first decade


Clinical features from OMIM:

217800

Human phenotypes related to Macular Dystrophy, Corneal:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions 32 HP:0000495
2 photophobia 32 HP:0000613
3 corneal dystrophy 32 HP:0001131
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 macular dystrophy 32 HP:0007754
6 punctate opacification of the cornea 32 HP:0007856

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 KRT12
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.4 KRT12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.4 SULT1C2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.4 KRT12 SULT1C2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.4 KRT12
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.4 SULT1C2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.4 KRT12
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.4 SULT1C2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.4 SULT1C2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.4 KRT12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.4 SULT1C2

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 Antidotes Phase 1
3 Protective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole

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 Type I 29 CHST6

Anatomical Context for Macular Dystrophy, Corneal

MalaCards organs/tissues related to Macular Dystrophy, Corneal:

41
Endothelial, Eye, Skin

Publications for Macular Dystrophy, Corneal

Articles related to Macular Dystrophy, Corneal:

(show top 50) (show all 108)
# Title Authors Year
1
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. ( 29749994 )
2018
2
<i>CHST6</i> mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy. ( 29221207 )
2017
3
Establishment of an in vitro monolayer model of macular corneal dystrophy. ( 27748734 )
2016
4
Macular Corneal Dystrophy and Posterior Corneal Abnormalities. ( 27755187 )
2016
5
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. ( 27439461 )
2016
6
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. ( 26604660 )
2015
7
A novel proteotoxic stress associated mechanism for macular corneal dystrophy. ( 25597745 )
2015
8
Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. ( 25514701 )
2015
9
Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy. ( 25970437 )
2015
10
A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. ( 26585178 )
2015
11
Macular corneal dystrophy: inA vivo confocal and structural data. ( 24491640 )
2014
12
Phenotype and genotype analysis in patients with macular corneal dystrophy. ( 24926691 )
2014
13
Macular corneal dystrophy and associated corneal thinning. ( 25081284 )
2014
14
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. ( 24311932 )
2013
15
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. ( 23017278 )
2013
16
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial. ( 23622562 )
2013
17
Concurrent macular corneal dystrophy and keratoconus. ( 22623870 )
2012
18
Molecular genetic analysis of macular corneal dystrophy patients from North India. ( 22261655 )
2012
19
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. ( 21887843 )
2011
20
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. ( 21242781 )
2011
21
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. ( 20539220 )
2010
22
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]. ( 20388351 )
2010
23
[Retained Descemet's membrane after penetrating keratoplasty for macular corneal dystrophy]. ( 19756645 )
2010
24
Molecular genetic study of Egyptian patients with macular corneal dystrophy. ( 19734134 )
2010
25
Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma. ( 20597644 )
2010
26
Outcomes of penetrating keratoplasty for macular corneal dystrophy. ( 23056668 )
2009
27
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. ( 19223992 )
2009
28
Bilateral coexistence of keratoconus and macular corneal dystrophy. ( 20671834 )
2009
29
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. ( 19421034 )
2009
30
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. ( 19365571 )
2009
31
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. ( 19204788 )
2009
32
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. ( 18815430 )
2008
33
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. ( 18500531 )
2008
34
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. ( 17962390 )
2008
35
An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. ( 17896316 )
2007
36
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. ( 17093400 )
2006
37
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. ( 16568029 )
2006
38
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. ( 15652851 )
2005
39
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. ( 16207214 )
2005
40
Penetrating keratoplasty for macular corneal dystrophy. ( 15691554 )
2005
41
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. ( 15953452 )
2005
42
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. ( 16138998 )
2005
43
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. ( 16084784 )
2005
44
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. ( 15013869 )
2004
45
Novel mutations in the CHST6 gene causing macular corneal dystrophy. ( 14984470 )
2004
46
[Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. ( 15787187 )
2004
47
[Macular corneal dystrophy including histologic and ultrastructural changes]. ( 15218769 )
2004
48
Concomitant keratoconus and macular corneal dystrophy. ( 15220737 )
2004
49
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. ( 12824236 )
2003
50
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. ( 14609920 )
2003

Variations for Macular Dystrophy, Corneal

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

75 (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
22 CHST6 p.Phe107Ser VAR_021438 rs72547545
23 CHST6 p.Tyr110Cys VAR_021439 rs72547544
24 CHST6 p.Phe121Leu VAR_021440
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 rs28937878
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

ClinVar genetic disease variations for Macular Dystrophy, Corneal:

6
(show top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHST6 NM_021615.4(CHST6): c.521A> G (p.Lys174Arg) single nucleotide variant Likely pathogenic rs28937877 GRCh37 Chromosome 16, 75513206: 75513206
2 CHST6 NM_021615.4(CHST6): c.521A> G (p.Lys174Arg) single nucleotide variant Likely pathogenic rs28937877 GRCh38 Chromosome 16, 75479308: 75479308
3 CHST6 NM_021615.4(CHST6): c.609C> A (p.Asp203Glu) single nucleotide variant Pathogenic rs28937878 GRCh37 Chromosome 16, 75513118: 75513118
4 CHST6 NM_021615.4(CHST6): c.609C> A (p.Asp203Glu) single nucleotide variant Pathogenic rs28937878 GRCh38 Chromosome 16, 75479220: 75479220
5 CHST6 CHST6, REPLACEMENT OF 5-PRIME REGION undetermined variant Pathogenic
6 CHST6 CHST6, DELETION OF 5-PRIME REGION deletion Pathogenic
7 CHST6 NM_021615.4(CHST6): c.599T> G (p.Leu200Arg) single nucleotide variant Pathogenic rs28937879 GRCh37 Chromosome 16, 75513128: 75513128
8 CHST6 NM_021615.4(CHST6): c.599T> G (p.Leu200Arg) single nucleotide variant Pathogenic rs28937879 GRCh38 Chromosome 16, 75479230: 75479230
9 CHST6 NM_021615.4(CHST6): c.304T> G (p.Cys102Gly) single nucleotide variant Pathogenic rs121917822 GRCh37 Chromosome 16, 75513423: 75513423
10 CHST6 NM_021615.4(CHST6): c.304T> G (p.Cys102Gly) single nucleotide variant Pathogenic rs121917822 GRCh38 Chromosome 16, 75479525: 75479525
11 CHST6 NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys) single nucleotide variant Pathogenic rs72547544 GRCh37 Chromosome 16, 75513398: 75513398
12 CHST6 NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys) single nucleotide variant Pathogenic rs72547544 GRCh38 Chromosome 16, 75479500: 75479500
13 CHST6 NM_021615.4(CHST6): c.827T> C (p.Leu276Pro) single nucleotide variant Pathogenic rs121917824 GRCh37 Chromosome 16, 75512900: 75512900
14 CHST6 NM_021615.4(CHST6): c.827T> C (p.Leu276Pro) single nucleotide variant Pathogenic rs121917824 GRCh38 Chromosome 16, 75479002: 75479002
15 CHST6 NM_021615.4(CHST6): c.277C> A (p.Arg93Ser) single nucleotide variant Pathogenic rs121917826 GRCh37 Chromosome 16, 75513450: 75513450
16 CHST6 NM_021615.4(CHST6): c.277C> A (p.Arg93Ser) single nucleotide variant Pathogenic rs121917826 GRCh38 Chromosome 16, 75479552: 75479552
17 CHST6 NM_021615.4(CHST6): c.*5465C> T single nucleotide variant Uncertain significance rs541989548 GRCh38 Chromosome 16, 75473176: 75473176
18 CHST6 NM_021615.4(CHST6): c.*5465C> T single nucleotide variant Uncertain significance rs541989548 GRCh37 Chromosome 16, 75507074: 75507074
19 CHST6 NM_021615.4(CHST6): c.*4970T> C single nucleotide variant Uncertain significance rs886052295 GRCh38 Chromosome 16, 75473671: 75473671
20 CHST6 NM_021615.4(CHST6): c.*4970T> C single nucleotide variant Uncertain significance rs886052295 GRCh37 Chromosome 16, 75507569: 75507569
21 CHST6 NM_021615.4(CHST6): c.*4586T> C single nucleotide variant Uncertain significance rs535487354 GRCh38 Chromosome 16, 75474055: 75474055
22 CHST6 NM_021615.4(CHST6): c.*4586T> C single nucleotide variant Uncertain significance rs535487354 GRCh37 Chromosome 16, 75507953: 75507953
23 CHST6 NM_021615.4(CHST6): c.*4290A> C single nucleotide variant Uncertain significance rs886052298 GRCh38 Chromosome 16, 75474351: 75474351
24 CHST6 NM_021615.4(CHST6): c.*4290A> C single nucleotide variant Uncertain significance rs886052298 GRCh37 Chromosome 16, 75508249: 75508249
25 CHST6 NM_021615.4(CHST6): c.*3819G> C single nucleotide variant Benign rs8063068 GRCh38 Chromosome 16, 75474822: 75474822
26 CHST6 NM_021615.4(CHST6): c.*3819G> C single nucleotide variant Benign rs8063068 GRCh37 Chromosome 16, 75508720: 75508720
27 CHST6 NM_021615.4(CHST6): c.*3750C> A single nucleotide variant Uncertain significance rs142693604 GRCh38 Chromosome 16, 75474891: 75474891
28 CHST6 NM_021615.4(CHST6): c.*3750C> A single nucleotide variant Uncertain significance rs142693604 GRCh37 Chromosome 16, 75508789: 75508789
29 CHST6 NM_021615.4(CHST6): c.*3621A> G single nucleotide variant Uncertain significance rs139900788 GRCh37 Chromosome 16, 75508918: 75508918
30 CHST6 NM_021615.4(CHST6): c.*3621A> G single nucleotide variant Uncertain significance rs139900788 GRCh38 Chromosome 16, 75475020: 75475020
31 CHST6 NM_021615.4(CHST6): c.*3441A> T single nucleotide variant Uncertain significance rs529530566 GRCh37 Chromosome 16, 75509098: 75509098
32 CHST6 NM_021615.4(CHST6): c.*3441A> T single nucleotide variant Uncertain significance rs529530566 GRCh38 Chromosome 16, 75475200: 75475200
33 CHST6 NM_021615.4(CHST6): c.*3078G> A single nucleotide variant Uncertain significance rs375112875 GRCh38 Chromosome 16, 75475563: 75475563
34 CHST6 NM_021615.4(CHST6): c.*3078G> A single nucleotide variant Uncertain significance rs375112875 GRCh37 Chromosome 16, 75509461: 75509461
35 CHST6 NM_021615.4(CHST6): c.*2956G> A single nucleotide variant Likely benign rs11860278 GRCh38 Chromosome 16, 75475685: 75475685
36 CHST6 NM_021615.4(CHST6): c.*2956G> A single nucleotide variant Likely benign rs11860278 GRCh37 Chromosome 16, 75509583: 75509583
37 CHST6 NM_021615.4(CHST6): c.*2836T> C single nucleotide variant Uncertain significance rs886052303 GRCh38 Chromosome 16, 75475805: 75475805
38 CHST6 NM_021615.4(CHST6): c.*2836T> C single nucleotide variant Uncertain significance rs886052303 GRCh37 Chromosome 16, 75509703: 75509703
39 CHST6 NM_021615.4(CHST6): c.*2503G> A single nucleotide variant Uncertain significance rs534652248 GRCh38 Chromosome 16, 75476138: 75476138
40 CHST6 NM_021615.4(CHST6): c.*2503G> A single nucleotide variant Uncertain significance rs534652248 GRCh37 Chromosome 16, 75510036: 75510036
41 CHST6 NM_021615.4(CHST6): c.*2433A> C single nucleotide variant Uncertain significance rs886052305 GRCh38 Chromosome 16, 75476208: 75476208
42 CHST6 NM_021615.4(CHST6): c.*2433A> C single nucleotide variant Uncertain significance rs886052305 GRCh37 Chromosome 16, 75510106: 75510106
43 CHST6 NM_021615.4(CHST6): c.*2417C> T single nucleotide variant Uncertain significance rs188632926 GRCh38 Chromosome 16, 75476224: 75476224
44 CHST6 NM_021615.4(CHST6): c.*2417C> T single nucleotide variant Uncertain significance rs188632926 GRCh37 Chromosome 16, 75510122: 75510122
45 CHST6 NM_021615.4(CHST6): c.*1967C> T single nucleotide variant Benign rs42967 GRCh38 Chromosome 16, 75476674: 75476674
46 CHST6 NM_021615.4(CHST6): c.*1967C> T single nucleotide variant Benign rs42967 GRCh37 Chromosome 16, 75510572: 75510572
47 CHST6 NM_021615.4(CHST6): c.*1914A> G single nucleotide variant Uncertain significance rs143764747 GRCh38 Chromosome 16, 75476727: 75476727
48 CHST6 NM_021615.4(CHST6): c.*1914A> G single nucleotide variant Uncertain significance rs143764747 GRCh37 Chromosome 16, 75510625: 75510625
49 CHST6 NM_021615.4(CHST6): c.*1892delA deletion Benign rs35225560 GRCh38 Chromosome 16, 75476749: 75476749
50 CHST6 NM_021615.4(CHST6): c.*1892delA deletion Benign rs35225560 GRCh37 Chromosome 16, 75510647: 75510647

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:

37
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - keratan sulfate hsa00533

GO Terms for Macular Dystrophy, Corneal

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 KRT12 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 8.62 CHST6 SULT1C2

Sources for Macular Dystrophy, Corneal

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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