SMCD
MCID: CRN273
MIFTS: 30

Corneal Dystrophy, Subepithelial Mucinous (SMCD)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Subepithelial Mucinous

MalaCards integrated aliases for Corneal Dystrophy, Subepithelial Mucinous:

Name: Corneal Dystrophy, Subepithelial Mucinous 57 44 72
Subepithelial Mucinous Corneal Dystrophy 57 12 59 15
Smcd 57 12 59

Characteristics:

Orphanet epidemiological data:

59
subepithelial mucinous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
corneal dystrophy, subepithelial mucinous:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060454
OMIM 57 612867
MeSH 44 C567547
ICD10 33 H18.5
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C2748503
Orphanet 59 ORPHA98959
MedGen 42 C2748503
UMLS 72 C2748503

Summaries for Corneal Dystrophy, Subepithelial Mucinous

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 are Degradation of the extracellular matrix and Cytoskeleton remodeling_Role of PDGFs in cell migration. Affiliated tissues include eye, and related phenotypes are corneal dystrophy and progressive visual loss

More information from OMIM: 612867

Related Diseases for Corneal Dystrophy, Subepithelial Mucinous

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 metaphyseal chondrodysplasia, schmid type 32.7 XBP1 RMRP COL10A1
2 systemic mastocytosis 32.4 PDGFRB PDGFRA FIP1L1
3 pdgfra-associated chronic eosinophilic leukemia 10.5 PDGFRA FIP1L1
4 loeffler endocarditis 10.5 PDGFRA FIP1L1
5 sm-ahnmd 10.5 PDGFRA FIP1L1
6 endomyocardial fibrosis 10.5 PDGFRA FIP1L1
7 cartilage-hair hypoplasia 10.4 RMRP COL10A1
8 gas gangrene 10.3 TNNI3 MB
9 pyle disease 10.3 RMRP COL10A1
10 corneal dystrophy 10.2
11 superficial corneal dystrophy 10.2
12 intermediate coronary syndrome 10.2 TNNI3 MB
13 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.1 PDGFRB PDGFRA
14 myofibroma 10.1 PDGFRB MB
15 cavernous hemangioma 10.1 XBP1 PDGFRA MB
16 desmoid tumor 10.1 PDGFRB PDGFRA
17 heart sarcoma 10.0 PDGFRB PDGFRA
18 primary hypereosinophilic syndrome 10.0 PDGFRB PDGFRA FIP1L1
19 hypereosinophilic syndrome, idiopathic 10.0 PDGFRB PDGFRA FIP1L1
20 atypical chronic myeloid leukemia 10.0 PDGFRB PDGFRA
21 hypomelanosis of ito 9.9 TYR COL5A1
22 mastocytosis 9.9 PDGFRB PDGFRA FIP1L1
23 myeloproliferative neoplasm 9.9 PDGFRB PDGFRA FIP1L1
24 leiomyosarcoma 9.9 PDGFRB PDGFRA MB
25 pericardium cancer 9.9 TNNI3 MB
26 acute kidney tubular necrosis 9.6 TYR MB
27 polycythemia vera 9.6 PDGFRB PDGFRA IFNA1
28 bone marrow cancer 9.6 PDGFRB PDGFRA IFNA1
29 chronic eosinophilic leukemia 9.5 PDGFRB PDGFRA IFNA1 FIP1L1
30 hypereosinophilic syndrome 9.5 PDGFRB PDGFRA IFNA1 FIP1L1

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:

32
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 progressive visual loss 32 HP:0000529

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Corneal Dystrophy, Subepithelial Mucinous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 COL5A1 FURIN MB PDGFRA PDGFRB SPEG
2 embryo MP:0005380 9.86 COL5A1 FURIN HSPD1 MB PDGFRA PDGFRB
3 growth/size/body region MP:0005378 9.81 COL10A1 COL5A1 FURIN HSPD1 MB PDGFRA
4 mortality/aging MP:0010768 9.7 COL10A1 COL5A1 FURIN HSPD1 MB PDGFRA
5 muscle MP:0005369 9.17 HSPD1 MB PDGFRA PDGFRB SPEG TNNI3

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:

41
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. 38 8
8352693 1993
2
[Epithelial Dystrophies of the Cornea]. 38
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
Show member pathways
12.11 FURIN COL5A1 COL10A1 CMA1
2 10.32 PDGFRB PDGFRA
3 9.77 PDGFRB PDGFRA

GO Terms for Corneal Dystrophy, Subepithelial Mucinous

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 PDGFRA FURIN COL5A1 COL10A1
2 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 PDGFRB PDGFRA
3 platelet-derived growth factor receptor signaling pathway GO:0048008 9.46 PDGFRB PDGFRA
4 cardiac myofibril assembly GO:0055003 9.4 PDGFRB PDGFRA
5 positive regulation of phospholipase C activity GO:0010863 9.37 PDGFRB PDGFRA
6 retina vasculature development in camera-type eye GO:0061298 9.32 PDGFRB PDGFRA
7 response to hydrogen peroxide GO:0042542 9.16 PDGFRB MB
8 positive regulation of interleukin-6 secretion GO:2000778 9.13 XBP1
9 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 8.96 PDGFRB PDGFRA
10 metanephric glomerular capillary formation GO:0072277 8.62 PDGFRB PDGFRA

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 9.16 PDGFRB PDGFRA
2 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRB PDGFRA
3 platelet-derived growth factor binding GO:0048407 8.8 PDGFRB PDGFRA COL5A1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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