MCID: MCL002
MIFTS: 47

Macular Corneal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Corneal Dystrophy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 12DISEASES, 51Orphanet, 65UMLS, 45NIH Rare Diseases, 47Novoseek, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 27ICD10, 29ICD9CM, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Macular Corneal Dystrophy:

Name: Macular Corneal Dystrophy 49 10 11 12 51 65
Groenouw Type Ii Corneal Dystrophy 45 22 67
Macular Corneal Dystrophy Type Ii 67 24 65
Mcdc1 45 22 67
Macular Dystrophy, Corneal Type 1 45 65
Macular Corneal Dystrophy Type I 67 24
Corneal Dystrophy, Macular Type 45 47
Fehr Corneal Dystrophy 10 51
Mcd 51 67
 
Corneal Dystrophy Groenouw Type Ii 51
Macular Corneal Dystrophy, Type 1 22
Macular Corneal Dystrophy Type 1 45
Corneal Dystrophy Macular Type 67
Macular Dystrophy, Corneal, 1 10
Macular Corneal Dystrophy I 22
Macular Corneal Dystrophy 1 22
Macular Dystrophy, Corneal 67
Malonic Aciduria 65

Characteristics:

Orphanet epidemiological data:

51
macular corneal dystrophy:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

61
macular corneal dystrophy:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 217800
Disease Ontology10 DOID:2565
ICD1027 H18.55
ICD9CM29 371.55
MeSH36 D003317
SNOMED-CT59 60258001
NCIt42 C34793
Orphanet51 98969
ICD10 via Orphanet28 H18.5
UMLS via Orphanet66 C0024439
UMLS65 C0024439, C1636149, C0342793 C1691013, more

Summaries for Macular Corneal Dystrophy

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UniProtKB/Swiss-Prot:67 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 holocarboxylase synthetase deficiency and mousa al din al nassar syndrome, and has symptoms including punctate opacification of the cornea, macular dystrophy and abnormality of metabolism/homeostasis. An important gene associated with Macular Corneal Dystrophy is CHST6 (Carbohydrate Sulfotransferase 6), and among its related pathways are Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include endothelial, eye and breast, and related mouse phenotypes are vision/eye and homeostasis/metabolism.

Disease Ontology:10 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:49 Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the... (217800) more...

Wikipedia:68 Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar... more...

Related Diseases for Macular Corneal Dystrophy

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1holocarboxylase synthetase deficiency11.8
2mousa al din al nassar syndrome11.6
3metaphyseal chondrodysplasia, schmid type11.6
4meesmann corneal dystrophy11.6
5multicentric castleman disease11.6
6corneal abscess10.4KRT12, TGFBI
7corneal dystrophy, reis-bucklers type10.4GSN, TGFBI
8posterior amorphous corneal dystrophy10.4COL8A2, TGFBI
9liver cirrhosis10.4KRT12, KRT3
10bronchopneumonia10.4KRT12, SAT1
11corneal dystrophy, lattice type iiia10.4CHST6, TGFBI
12omodysplasia10.3DCN, LUM
13breast cancer10.3
14polycystic ovary syndrome10.3
15severe nonproliferative diabetic retinopathy10.2GSN, TACSTD2, TGFBI
16endothelial dystrophy10.2CHST6, DCN, LUM
17folic acid deficiency anemia10.2GGT2, LCAT
18subepithelial mucinous corneal dystrophy10.2DCN, LUM
19hepatitis10.2
20lymphoma10.2
21neuroendocrine tumor10.2
22pyoderma10.2
23neuronitis10.2
24cough variant asthma10.2KRT12, KRT3, STS, TGFBI
25epithelial-stromal tgfbi dystrophy10.1KRT12, KRT3, TACSTD2, TGFBI
26frontonasal dysplasia 310.1DCN, LUM
27corneal dystrophy, avellino type10.0TACSTD2, TGFBI
28corneal dystrophy, gelatinous drop-like10.0CHST6, GSN, KRT12, TACSTD2, TGFBI
29schizophrenia10.0
30rheumatoid arthritis10.0
31colorectal cancer10.0
32dihydropyrimidine dehydrogenase deficiency10.0
33hiv-110.0
34asthma10.0
35coronary artery disease10.0
36attention deficit-hyperactivity disorder10.0
37ataxia-telangiectasia10.0
38pancreatic cancer10.0
39neurofibromatosis, type 110.0
40adrenoleukodystrophy10.0
41dravet syndrome10.0
42alcoholic hepatitis10.0
43arthritis10.0
44osteoarthritis10.0
45primary biliary cirrhosis10.0
46rocky mountain spotted fever10.0
47atrioventricular septal defect10.0
48artery disease10.0
49cholelithiasis10.0
50ehrlichiosis10.0

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



Diseases related to macular corneal dystrophy

Symptoms for Macular Corneal Dystrophy

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Symptoms by clinical synopsis from OMIM:

217800

Clinical features from OMIM:

217800

HPO human phenotypes related to Macular Corneal Dystrophy:

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

Drugs & Therapeutics for Macular Corneal Dystrophy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FomepizoleapprovedPhase 137554-65-63406
Synonyms:
222569_ALDRICH
4-Methyl-1H-pyrazole
4-Methylpyrazol
4-Methylpyrazole
4-methylpyrazole
4-methylpyrazole monohydrochloride
5-23-05-00031 (Beilstein Handbook Reference)
7554-65-6
AC-4833
AC1L1FV5
AC1Q2OK9
AC1Q2OKA
AKOS000265586
Antizol
Antizol (TN)
BRN 0105204
C010238
C07837
C4H6N2
CHEBI:5141
CHEMBL1308
CID3406
CPD0-1652
D00707
DB01213
EINECS 231-445-0
 
Fomepizol
Fomepizol [INN-Spanish]
Fomepizole
Fomepizole (USAN/INN)
Fomepizole [USAN:INN]
Fomepizolum
Fomepizolum [INN-Latin]
I11-0350
LS-128524
Lopac-M-1387
Lopac0_000723
M0774
MLS001335923
MLS002153469
NCGC00015646-01
NCGC00015646-03
NCGC00162231-01
Orphan brand of fomepizole
Paladin brand of fomepizole
S14-0570
SBB004402
SMR000059088
SMR000326764
STK256626
TL8005172
UNII-83LCM6L2BY
ZINC00897288
fomepizole
2Protective AgentsPhase 15651

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular DystrophyCompletedNCT00346853Phase 1
2Spectral-domain Optical Coherence Tomography of the EyeRecruitingNCT02614625
3DISCOVER Study: Microscope-integrated Intraoperative OCT StudyRecruitingNCT02423213
4PIONEER: Intraoperative and Perioperative OCT StudyActive, not recruitingNCT02423161
5Repository for Inherited Eye DiseasesSuspendedNCT00378742

Search NIH Clinical Center for Macular Corneal Dystrophy

Genetic Tests for Macular Corneal Dystrophy

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Genetic tests related to Macular Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Macular Corneal Dystrophy 122 CHST6

Anatomical Context for Macular Corneal Dystrophy

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MalaCards organs/tissues related to Macular Corneal Dystrophy:

33
Endothelial, Eye, Breast, Prostate, Bone, Brain, Neutrophil

Animal Models for Macular Corneal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Macular Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3CHST6, COL8A2, DCN, KRT12, LCAT, LUM
2MP:00053766.2DCN, GSN, INSM1, LCAT, LUM, OGN

Publications for Macular Corneal Dystrophy

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Articles related to Macular Corneal Dystrophy:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
Nonlinear interactions in the thalamocortical loop in essential tremor: A model-based frequency domain analysis. (26987955)
2016
2
Assessment of schistosomiasis in the semi-arid Northeast region of Brazil: the SALo Francisco River large-scale water transposition project. (27192599)
2016
3
Cyclin D1 Loss Distinguishes Prostatic Small-Cell Carcinoma from Most Prostatic Adenocarcinomas. (26246306)
2015
4
Common severe infections in chronic granulomatous disease. (25537876)
2015
5
Abnormal exercise response in long-term survivors of hodgkinA lymphoma treated with thoracic irradiation: evidence of cardiac autonomic dysfunction and impact on outcomes. (25677317)
2015
6
Spectral-domain optical coherence tomographic features of choroidal neovascular membranes in multifocal choroiditis and punctate inner choroidopathy. (25631844)
2015
7
Silencing the receptor of activated C-kinase 1 (RACK1) suppresses tumorigenicity in epithelial ovarian cancer in vitro and in vivo. (24481459)
2014
8
Prediction and control of brucellosis transmission of dairy cattle in zhejiang province, china. (25386963)
2014
9
Abnormal extraocular muscle insertion in Williams Beuren syndrome (WBS). (24771172)
2014
10
CNS-immune reconstitution inflammatory syndrome in the setting of HIV infection, part 1: overview and discussion of progressive multifocal leukoencephalopathy-immune reconstitution inflammatory syndrome and cryptococcal-immune reconstitution inflammatory syndrome. (22790246)
2013
11
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. (22752065)
2013
12
Ethnicity and delay in measles vaccination in a nairobi slum. (23097621)
2012
13
The effects of transforming growth factor-I^2 on the expression of follistatin and activin A in normal and glaucomatous human trabecular meshwork cells and tissues. (23010638)
2012
14
Ki-67 Antigen Overexpression Is Associated with the Metaplasia-Adenocarcinoma Sequence in Barrett's Esophagus. (22844273)
2012
15
Gi-biased I^2AR signaling links GRK2 upregulation to heart failure. (22179058)
2012
16
Association between insulin-like growth factor binding protein-2 levels and cardiovascular risk factors in Korean children. (22293585)
2012
17
AIB1:ERI+ transcriptional activity is selectively enhanced in aromatase inhibitor-resistant breast cancer cells. (22550166)
2012
18
Structure of a compact conformation of linear diubiquitin. (22281738)
2012
19
Functional neuroimaging studies of post-traumatic stress disorder. (21306214)
2011
20
The in vivo pattern of binding of RAG1 and RAG2 to antigen receptor loci. (20398922)
2010
21
Toxoplasma gondii antibody profile in HIV-infected pregnant women and the risk of congenital toxoplasmosis. (18855029)
2009
22
Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility. (19910025)
2009
23
Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). (17486589)
2007
24
Distinctive pattern of glial fibrillary acidic protein immunoreactivity useful in distinguishing fragmented pleomorphic adenoma, canalicular adenoma and polymorphous low grade adenocarcinoma of minor salivary glands. (20614277)
2007
25
A hypoxia-controlled cap-dependent to cap-independent translation switch in breast cancer. (17996713)
2007
26
Action profiles of statins and calcineurin inhibitors during human mixed lymphocyte reaction. (17482516)
2007
27
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
28
Do all patients with RET mutations associated with multiple endocrine neoplasia type 2 require surgery? (16929368)
2005
29
Role of TNF-alpha and its receptors in pericoronitis. (16304450)
2005
30
Epidemiological relationships between the common cold and exacerbation frequency in COPD. (16264045)
2005
31
A template-assembled synthetic protein surface mimetic of the von Willebrand factor A1 domain inhibits botrocetin-induced platelet aggregation. (15174170)
2004
32
Hypertensive left ventricular hypertrophy: relation to beta-adrenergic receptor kinase-1 (betaARK1) in peripheral lymphocytes. (15097244)
2004
33
Intacs for early pellucid marginal degeneration. (14967293)
2004
34
Persistence of Chlamydia pneumoniae in degenerative aortic valve stenosis indicated by heat shock protein 60 homologues. (12578339)
2003
35
The IGF-1 receptor in cancer biology. (14601044)
2003
36
Microsomal epoxide hydrolase polymorphism and susceptibility to ovarian cancer. (11809533)
2002
37
Kinetic analysis of matrix metalloproteinase activity using fluorogenic triple-helical substrates. (11341845)
2001
38
Correlation of morphology, electrophysiology and chemistry of neurons in the myenteric plexus of the guinea-pig distal colon. (10323306)
1999
39
Molecular cloning of a docking protein, BRDG1, that acts downstream of the Tec tyrosine kinase. (10518561)
1999
40
Compartmentalization of PDE-4 and cAMP-dependent protein kinase in neutrophils and macrophages during phagocytosis. (9515168)
1998
41
Can aminopenicillin be prescribed as monotherapy in case of community-acquired pneumonia?]. (9819592)
1998
42
Differential expression of c-jun and junD in end-stage human cardiomyopathy. (9136081)
1997
43
Evidence for elongation of the helical pitch of the RecA filament upon ATP and ADP binding using small-angle neutron scattering. (7588804)
1995
44
Paramyxovirus-like nuclear inclusions identical to those of Paget's disease of bone detected in giant cells of primary oxalosis. (1455692)
1992
45
Quantitative analyses of alpha-adrenoceptors in human prostatic capsule, adenoma and urethra--a comparison between normal prostate and hypertrophied prostate]. (1373455)
1992
46
The histamine degradative uptake pathway in human vascular endothelial cells and skin fibroblasts is dependent on extracellular Na+ and Cl-. (2201685)
1990
47
Clinico-pathological study on primary endocardial fibroelastosis. (3144837)
1987
48
Gaucher's disease affecting the mandible. (3855992)
1985
49
Characteristics of the aminoaciduria resulting from cycloleucine administration in pair-fed rats. (5773680)
1969
50
CASE OF DYSTOCIA DUE TO UTERINE MYOMA: CAESAREAN SECTION. (20760826)
1903

Variations for Macular Corneal Dystrophy

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

67 (show all 57)
id Symbol AA change Variation ID SNP ID
1CHST6p.Leu15ProVAR_021417
2CHST6p.Leu22ArgVAR_021418
3CHST6p.Pro31SerVAR_021419
4CHST6p.His42TyrVAR_021420
5CHST6p.Arg50CysVAR_021421rs28937877
6CHST6p.Ser51LeuVAR_021422
7CHST6p.Gly52AspVAR_021423
8CHST6p.Ser53LeuVAR_021424
9CHST6p.Leu59ProVAR_021425
10CHST6p.Asn61ThrVAR_021426
11CHST6p.Val66LeuVAR_021427
12CHST6p.Tyr68HisVAR_021428
13CHST6p.Met70LeuVAR_021429
14CHST6p.Pro72SerVAR_021430
15CHST6p.Val76MetVAR_021431
16CHST6p.Arg93HisVAR_021432
17CHST6p.Arg97ProVAR_021433
18CHST6p.Ser98TrpVAR_021434
19CHST6p.Cys102GlyVAR_021435
20CHST6p.Cys102TyrVAR_021436
21CHST6p.Met104ValVAR_021437
22CHST6p.Phe107SerVAR_021438
23CHST6p.Tyr110CysVAR_021439
24CHST6p.Phe121LeuVAR_021440
25CHST6p.Gln122ProVAR_021441
26CHST6p.Arg127CysVAR_021442
27CHST6p.Ala128ValVAR_021443
28CHST6p.Ser131ProVAR_021444
29CHST6p.Leu152ProVAR_021445
30CHST6p.Arg162GlyVAR_021446rs117435647
31CHST6p.Arg166ProVAR_021447
32CHST6p.Lys174ArgVAR_021448rs28937878
33CHST6p.Arg177HisVAR_021449
34CHST6p.Val198GluVAR_021450
35CHST6p.Leu200ArgVAR_021451rs28937879
36CHST6p.Arg202SerVAR_021452
37CHST6p.Asp203GluVAR_021453rs28937878
38CHST6p.Pro204GlnVAR_021454
39CHST6p.Arg205LeuVAR_021455
40CHST6p.Arg205GlnVAR_021456
41CHST6p.Ala206ThrVAR_021457
42CHST6p.Ala206ValVAR_021458
43CHST6p.Ser210PheVAR_021459
44CHST6p.Arg211GlnVAR_021460
45CHST6p.Arg211TrpVAR_021461rs202175444
46CHST6p.Ala217ThrVAR_021462
47CHST6p.Asp221GluVAR_021463
48CHST6p.Asp221TyrVAR_021464
49CHST6p.His249ProVAR_021465
50CHST6p.Tyr268CysVAR_021466rs72547539
51CHST6p.Glu274LysVAR_021467
52CHST6p.Leu276ProVAR_021468
53CHST6p.Tyr358AspVAR_021469
54CHST6p.Arg177GlyVAR_075523
55CHST6p.Pro186ArgVAR_075524
56CHST6p.Arg205TrpVAR_075525
57CHST6p.Tyr358HisVAR_075527

Clinvar genetic disease variations for Macular Corneal Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHST6NM_021615.4(CHST6): c.521A> G (p.Lys174Arg)single nucleotide variantPathogenicrs28937877GRCh37Chr 16, 75513206: 75513206
2CHST6NM_021615.4(CHST6): c.609C> A (p.Asp203Glu)single nucleotide variantPathogenicrs28937878GRCh37Chr 16, 75513118: 75513118
3CHST6NM_021615.4(CHST6): c.599T> G (p.Leu200Arg)single nucleotide variantPathogenicrs28937879GRCh37Chr 16, 75513128: 75513128
4CHST6NM_021615.4(CHST6): c.304T> G (p.Cys102Gly)single nucleotide variantPathogenicrs121917822GRCh37Chr 16, 75513423: 75513423
5CHST6NM_021615.4(CHST6): c.329A> G (p.Tyr110Cys)single nucleotide variantPathogenicrs72547544GRCh37Chr 16, 75513398: 75513398
6CHST6NM_021615.4(CHST6): c.827T> C (p.Leu276Pro)single nucleotide variantPathogenicrs121917824GRCh37Chr 16, 75512900: 75512900

Expression for genes affiliated with Macular Corneal Dystrophy

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

Pathways for genes affiliated with Macular Corneal Dystrophy

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GO Terms for genes affiliated with Macular Corneal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1keratan sulfate metabolic processGO:004233910.1CHST5, CHST6, LUM
2glycosaminoglycan metabolic processGO:00302039.8CHST5, CHST6, DCN
3angiogenesisGO:00015259.7COL8A2, SAT1, TGFBI
4keratan sulfate biosynthetic processGO:00181469.6CHST5, CHST6, LUM, OGN
5extracellular matrix disassemblyGO:00226179.3COL8A2, DCN, GSN

Sources for Macular Corneal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet