SMCD
MCID: CRN273
MIFTS: 25

Corneal Dystrophy, Subepithelial Mucinous (SMCD)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Subepithelial Mucinous

MalaCards integrated aliases for Corneal Dystrophy, Subepithelial Mucinous:

Name: Corneal Dystrophy, Subepithelial Mucinous 56 43 71
Subepithelial Mucinous Corneal Dystrophy 56 12 58 15
Smcd 56 12 58

Characteristics:

Orphanet epidemiological data:

58
subepithelial mucinous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first decade
one family reported (last curated june 2009)


HPO:

31
corneal dystrophy, subepithelial mucinous:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060454
OMIM 56 612867
MeSH 43 C567547
ICD10 32 H18.5
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C2748503
Orphanet 58 ORPHA98959
MedGen 41 C2748503
SNOMED-CT via HPO 68 263681008 5587004
UMLS 71 C2748503

Summaries for Corneal Dystrophy, Subepithelial Mucinous

Disease Ontology : 12 An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.

MalaCards based summary : Corneal Dystrophy, Subepithelial Mucinous, also known as subepithelial mucinous corneal dystrophy, is related to metaphyseal chondrodysplasia, schmid type and systemic mastocytosis. An important gene associated with Corneal Dystrophy, Subepithelial Mucinous is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways is Mitotic Roles of Polo Like Kinases. Affiliated tissues include eye, and related phenotypes are progressive visual loss and corneal dystrophy

More information from OMIM: 612867

Related Diseases for Corneal Dystrophy, Subepithelial Mucinous

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



Diseases related to Corneal Dystrophy, Subepithelial Mucinous

Symptoms & Phenotypes for Corneal Dystrophy, Subepithelial Mucinous

Human phenotypes related to Corneal Dystrophy, Subepithelial Mucinous:

31
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 corneal dystrophy 31 HP:0001131

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
progressive visual loss
subepithelial opacities and haze most dense centrally
subepithelial deposits of a combination of chondroitin-4-sulfate and dermatan sulfate

Clinical features from OMIM:

612867

Drugs & Therapeutics for Corneal Dystrophy, Subepithelial Mucinous

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Subepithelial Mucinous

Cochrane evidence based reviews: corneal dystrophy, subepithelial mucinous

Genetic Tests for Corneal Dystrophy, Subepithelial Mucinous

Anatomical Context for Corneal Dystrophy, Subepithelial Mucinous

MalaCards organs/tissues related to Corneal Dystrophy, Subepithelial Mucinous:

40
Eye

Publications for Corneal Dystrophy, Subepithelial Mucinous

Articles related to Corneal Dystrophy, Subepithelial Mucinous:

# Title Authors PMID Year
1
Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations. 56 61
8352693 1993
2
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019

Variations for Corneal Dystrophy, Subepithelial Mucinous

Expression for Corneal Dystrophy, Subepithelial Mucinous

Search GEO for disease gene expression data for Corneal Dystrophy, Subepithelial Mucinous.

Pathways for Corneal Dystrophy, Subepithelial Mucinous

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

# Super pathways Score Top Affiliating Genes
1 10.36 SMC1B SMC1A

GO Terms for Corneal Dystrophy, Subepithelial Mucinous

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

# Name GO ID Score Top Affiliating Genes
1 condensed nuclear chromosome GO:0000794 8.96 SMC1B SMC1A
2 meiotic cohesin complex GO:0030893 8.62 SMC1B SMC1A

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

# Name GO ID Score Top Affiliating Genes
1 chromosome organization GO:0051276 8.96 SMC1B SMC1A
2 sister chromatid cohesion GO:0007062 8.62 SMC1B SMC1A

Sources for Corneal Dystrophy, Subepithelial Mucinous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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