MCD
MCID: MCL002
MIFTS: 49

Macular Corneal Dystrophy (MCD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Corneal Dystrophy

Aliases & Descriptions for Macular Corneal Dystrophy:

Name: Macular Corneal Dystrophy 54 12 56 13 14 69
Groenouw Type Ii Corneal Dystrophy 50 24 66
Macular Corneal Dystrophy Type Ii 66 29 69
Mcdc1 50 24 66
Macular Dystrophy, Corneal Type 1 50 69
Macular Corneal Dystrophy Type I 66 29
Corneal Dystrophy, Macular Type 50 52
Macular Dystrophy, Corneal 54 66
Fehr Corneal Dystrophy 12 56
Mcd 56 66
Corneal Dystrophy Groenouw Type Ii 56
Macular Corneal Dystrophy, Type 1 24
Macular Corneal Dystrophy Type 1 50
Corneal Dystrophy Macular Type 66
Macular Dystrophy, Corneal, 1 12
Macular Corneal Dystrophy 1 24
Macular Corneal Dystrophy I 24

Characteristics:

Orphanet epidemiological data:

56
macular corneal dystrophy
Inheritance: Autosomal recessive; Age of onset: All ages;

HPO:

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


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 217800
Disease Ontology 12 DOID:2565
ICD10 33 H18.55
ICD9CM 35 371.55
MeSH 42 D003317
NCIt 47 C34793
SNOMED-CT 64 60258001
Orphanet 56 ORPHA98969
UMLS via Orphanet 70 C0024439
ICD10 via Orphanet 34 H18.5
UMLS 69 C0024439

Summaries for Macular Corneal Dystrophy

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Macular Corneal Dystrophy, also known as groenouw type ii corneal dystrophy, is related to spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia and multicentric castleman disease, and has symptoms including photophobia, abnormality of metabolism/homeostasis and corneal dystrophy. An important gene associated with Macular Corneal Dystrophy is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways/superpathways is Keratan sulfate/keratin metabolism. The drugs Dexamethasone and Antiemetics have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and skin, and related phenotype is vision/eye.

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 : 54 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the... (217800) more...

Wikipedia : 71 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Related Diseases for Macular Corneal Dystrophy

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.0
2 multicentric castleman disease 11.6
3 metaphyseal chondrodysplasia, schmid type 11.6
4 kaposi sarcoma 11.5
5 holocarboxylase synthetase deficiency 11.5
6 biotinidase deficiency 11.4
7 malonyl-coa decarboxylase deficiency 11.2
8 mousa al din al nassar syndrome 11.1
9 multiple carboxylase deficiency 11.1
10 hypotrichosis, congenital, with juvenile macular dystrophy 10.9
11 c1q nephropathy 10.9
12 focal segmental glomerulosclerosis 10.9
13 corneal dystrophy 10.8
14 lipoid nephrosis 10.7
15 meesmann corneal dystrophy 10.7
16 metaphyseal dysplasia, spahr type 10.7
17 cortical malformations, occipital 10.7
18 keratoconus 10.1
19 castleman disease 10.0
20 corneal dystrophy, thiel-behnke type 10.0 CHST6 TGFBI
21 epithelial basement membrane dystrophy 9.9 CHST6 TGFBI
22 chronic pulmonary heart disease 9.9 KRT12 TGFBI
23 sarcoma 9.9
24 nephrotic syndrome 9.9
25 corneal endothelial dystrophy 9.8 CHST6 KRT12 TGFBI
26 chromosome 1p32-p31 deletion syndrome 9.8 CHST6 KRT12 TGFBI
27 epidermolysis bullosa simplex, weber-cockayne type 9.8 CHST6 KRT12 TGFBI
28 complex partial epilepsy 9.8 KRT12 TGFBI
29 muscular dystrophy, limb-girdle, type 1a 9.8 CHST6 KRT12 TGFBI
30 cataract 9.8
31 spastic ataxia 9.8
32 ataxia 9.8
33 mucopolysaccharidoses 9.8
34 spasticity 9.8
35 myopia 9.8
36 endotheliitis 9.8
37 ciliary dyskinesia, primary, 5 9.8 CHST6 KRT12 TGFBI
38 desbuquois dysplasia 9.8 CHST6 KRT12 TGFBI
39 kshv inflammatory cytokine syndrome 9.7
40 biotin-responsive multiple carboxylase deficiencies 9.7
41 leigh-like syndrome 9.7
42 poems syndrome 9.7
43 epilepsy 9.7
44 chromosome 3q29 microduplication syndrome 9.6 CHST6 LUM TGFBI UBIAD1
45 venous insufficiency 9.5 CHST6 KRT12 TGFBI UBIAD1
46 malignant histiocytic disease 9.5 CHST6 KRT12 TGFBI UBIAD1
47 apparent mineralocorticoid excess 9.3 CHST6 KRT12 LUM TGFBI UBIAD1

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



Diseases related to Macular Corneal Dystrophy

Symptoms & Phenotypes for Macular Corneal Dystrophy

Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

Human phenotypes related to Macular Corneal Dystrophy:

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

MGI Mouse Phenotypes related to Macular Corneal Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 TGFBI CHST6 KRT12 LUM

Drugs & Therapeutics for Macular Corneal Dystrophy

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
2 Antiemetics Phase 2
3 Anti-Inflammatory Agents Phase 2
4 Antineoplastic Agents, Hormonal Phase 2
5 Autonomic Agents Phase 2
6 BB 1101 Phase 2
7 Dexamethasone 21-phosphate Phase 2
8 Dexamethasone acetate Phase 2 1177-87-3
9 Gastrointestinal Agents Phase 2
10 glucocorticoids Phase 2
11 HIV Protease Inhibitors Phase 2
12 Hormone Antagonists Phase 2
13 Hormones Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
15 Peripheral Nervous System Agents Phase 2
16 Pharmaceutical Solutions Phase 2
17
protease inhibitors Phase 2
18
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
19 Antidotes Phase 1
20 Protective Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2
2 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1
3 Spectral-domain Optical Coherence Tomography of the Eye Recruiting NCT02614625
4 DISCOVER Study: Microscope-integrated Intraoperative OCT Study Recruiting NCT02423213
5 PIONEER: Intraoperative and Perioperative OCT Study Active, not recruiting NCT02423161
6 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Macular Corneal Dystrophy

Genetic Tests for Macular Corneal Dystrophy

Genetic tests related to Macular Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Macular Corneal Dystrophy, Type Ii 29
2 Macular Corneal Dystrophy Type I 29
3 Macular Corneal Dystrophy 1 24 CHST6

Anatomical Context for Macular Corneal Dystrophy

MalaCards organs/tissues related to Macular Corneal Dystrophy:

39
Endothelial, Eye, Skin

Publications for Macular Corneal Dystrophy

Articles related to Macular Corneal Dystrophy:

(show top 50) (show all 103)
id Title Authors Year
1
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. ( 27439461 )
2016
2
Macular Corneal Dystrophy and Posterior Corneal Abnormalities. ( 27755187 )
2016
3
Establishment of an in vitro monolayer model of macular corneal dystrophy. ( 27748734 )
2016
4
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. ( 26604660 )
2015
5
A novel proteotoxic stress associated mechanism for macular corneal dystrophy. ( 25597745 )
2015
6
Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy. ( 25970437 )
2015
7
Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. ( 25514701 )
2015
8
A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. ( 26585178 )
2015
9
Macular corneal dystrophy: inA vivo confocal and structural data. ( 24491640 )
2014
10
Phenotype and genotype analysis in patients with macular corneal dystrophy. ( 24926691 )
2014
11
Macular corneal dystrophy and associated corneal thinning. ( 25081284 )
2014
12
Deep anterior lamellar keratoplasty versus penetrating keratoplasty for macular corneal dystrophy: a randomized trial. ( 23622562 )
2013
13
Comparison of penetrating keratoplasty and deep lamellar keratoplasty for macular corneal dystrophy and risk factors of recurrence. ( 23017278 )
2013
14
A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. ( 24311932 )
2013
15
Concurrent macular corneal dystrophy and keratoconus. ( 22623870 )
2012
16
Molecular genetic analysis of macular corneal dystrophy patients from North India. ( 22261655 )
2012
17
Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. ( 21242781 )
2011
18
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies. ( 21887843 )
2011
19
Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy. ( 20539220 )
2010
20
Structural collagen alterations in macular corneal dystrophy occur mainly in the posterior stroma. ( 20597644 )
2010
21
[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]. ( 20388351 )
2010
22
Molecular genetic study of Egyptian patients with macular corneal dystrophy. ( 19734134 )
2010
23
Comparative evaluation of big-bubble deep anterior lamellar keratoplasty and penetrating keratoplasty in a case of macular corneal dystrophy. ( 19421034 )
2009
24
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. ( 19204788 )
2009
25
Bilateral coexistence of keratoconus and macular corneal dystrophy. ( 20671834 )
2009
26
Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy. ( 19223992 )
2009
27
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. ( 19365571 )
2009
28
Outcomes of penetrating keratoplasty for macular corneal dystrophy. ( 23056668 )
2009
29
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. ( 18500531 )
2008
30
Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. ( 18815430 )
2008
31
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. ( 17962390 )
2008
32
An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. ( 17896316 )
2007
33
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. ( 17093400 )
2006
34
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. ( 16568029 )
2006
35
Penetrating keratoplasty for macular corneal dystrophy. ( 15691554 )
2005
36
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. ( 15953452 )
2005
37
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. ( 15652851 )
2005
38
Long-term results of phototherapeutic keratectomy with 193-nm excimer laser for macular corneal dystrophy. ( 16138998 )
2005
39
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. ( 16207214 )
2005
40
Fixed dilated pupil after penetrating keratoplasty for macular corneal dystrophy and keratoconus. ( 16084784 )
2005
41
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. ( 15013869 )
2004
42
[Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]. ( 15787187 )
2004
43
Concomitant keratoconus and macular corneal dystrophy. ( 15220737 )
2004
44
Novel mutations in the CHST6 gene causing macular corneal dystrophy. ( 14984470 )
2004
45
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. ( 12882769 )
2003
46
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. ( 14735064 )
2003
47
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. ( 12882775 )
2003
48
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. ( 12824236 )
2003
49
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. ( 14609920 )
2003
50
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. ( 12883341 )
2003

Variations for Macular Corneal Dystrophy

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

66 (show top 50) (show all 57)
id 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 Corneal Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHST6 NM_021615.4(CHST6): c.277C> A (p.Arg93Ser) single nucleotide variant Pathogenic rs121917826 GRCh38 Chromosome 16, 75479552: 75479552
2 CHST6 NM_021615.4(CHST6): c.521A> G (p.Lys174Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28937877 GRCh37 Chromosome 16, 75513206: 75513206
3 CHST6 NM_021615.4(CHST6): c.609C> A (p.Asp203Glu) single nucleotide variant Pathogenic rs28937878 GRCh37 Chromosome 16, 75513118: 75513118
4 CHST6 CHST6, REPLACEMENT OF 5-PRIME REGION undetermined variant Pathogenic
5 CHST6 CHST6, DELETION OF 5-PRIME REGION deletion Pathogenic
6 CHST6 NM_021615.4(CHST6): c.599T> G (p.Leu200Arg) single nucleotide variant Pathogenic rs28937879 GRCh37 Chromosome 16, 75513128: 75513128
7 CHST6 NM_021615.4(CHST6): c.304T> G (p.Cys102Gly) single nucleotide variant Pathogenic rs121917822 GRCh37 Chromosome 16, 75513423: 75513423
8 CHST6 NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys) single nucleotide variant Pathogenic rs72547544 GRCh37 Chromosome 16, 75513398: 75513398
9 CHST6 NM_021615.4(CHST6): c.827T> C (p.Leu276Pro) single nucleotide variant Pathogenic rs121917824 GRCh37 Chromosome 16, 75512900: 75512900
10 CHST6 NM_021615.4(CHST6): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs886052321 GRCh38 Chromosome 16, 75478937: 75478937

Expression for Macular Corneal Dystrophy

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

Pathways for Macular Corneal Dystrophy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.57 CHST6 LUM

GO Terms for Macular Corneal Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 LUM TGFBI
2 keratan sulfate biosynthetic process GO:0018146 8.96 CHST6 LUM
3 visual perception GO:0007601 8.8 KRT12 LUM TGFBI

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

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.62 LUM TGFBI

Sources for Macular Corneal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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