SMCD
MCID: CRN273
MIFTS: 33

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 58 45 74
Subepithelial Mucinous Corneal Dystrophy 58 12 60 15
Smcd 58 12 60

Characteristics:

Orphanet epidemiological data:

60
subepithelial mucinous corneal dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
corneal dystrophy, subepithelial mucinous:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060454
OMIM 58 612867
MeSH 45 C567547
ICD10 34 H18.5
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C2748503
Orphanet 60 ORPHA98959
MedGen 43 C2748503
SNOMED-CT via HPO 70 263681008 5587004
UMLS 74 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, myeloid and bone, and related phenotypes are corneal dystrophy and progressive visual loss

Description 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 28)
# Related Disease Score Top Affiliating Genes
1 metaphyseal chondrodysplasia, schmid type 32.4 COL10A1 RMRP XBP1
2 systemic mastocytosis 32.0 FIP1L1 PDGFRA PDGFRB
3 mastocytosis 30.0 FIP1L1 PDGFRA PDGFRB
4 pdgfra-associated chronic eosinophilic leukemia 10.3 FIP1L1 PDGFRA
5 loeffler endocarditis 10.3 FIP1L1 PDGFRA
6 endomyocardial fibrosis 10.3 FIP1L1 PDGFRA
7 sm-ahnmd 10.3 FIP1L1 PDGFRA
8 epithelial and subepithelial dystrophy 10.2 COL10A1 TGFBI
9 cartilage-hair hypoplasia 10.2 COL10A1 RMRP
10 gas gangrene 10.2 MB TNNI3
11 corneal dystrophy 10.2
12 pyle disease 10.2 COL10A1 RMRP
13 pericardium cancer 10.0 MB TNNI3
14 cavernous hemangioma 10.0 MB PDGFRA XBP1
15 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.0 PDGFRA PDGFRB
16 myofibroma 10.0 MB PDGFRB
17 intermediate coronary syndrome 9.9 MB TNNI3
18 desmoid tumor 9.9 PDGFRA PDGFRB
19 heart sarcoma 9.9 PDGFRA PDGFRB
20 primary hypereosinophilic syndrome 9.9 FIP1L1 PDGFRA PDGFRB
21 hypereosinophilic syndrome, idiopathic 9.9 FIP1L1 PDGFRA PDGFRB
22 myeloproliferative neoplasm 9.8 FIP1L1 PDGFRA PDGFRB
23 leiomyosarcoma 9.8 MB PDGFRA PDGFRB
24 atypical chronic myeloid leukemia 9.8 PDGFRA PDGFRB
25 polycythemia vera 9.6 IFNA1 PDGFRA PDGFRB
26 bone marrow cancer 9.6 IFNA1 PDGFRA PDGFRB
27 chronic eosinophilic leukemia 9.6 FIP1L1 IFNA1 PDGFRA PDGFRB
28 hypereosinophilic syndrome 9.6 FIP1L1 IFNA1 PDGFRA PDGFRB

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:

33
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 33 HP:0001131
2 progressive visual loss 33 HP:0000529

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 COL5A1 FURIN MB PDGFRA PDGFRB SPEG
2 growth/size/body region MP:0005378 9.91 COL10A1 COL5A1 FURIN HSPD1 MB PDGFRA
3 embryo MP:0005380 9.87 COL5A1 FURIN HSPD1 MB PDGFRA PDGFRB
4 hematopoietic system MP:0005397 9.81 CMA1 COL10A1 FURIN MB PDGFRA PDGFRB
5 mortality/aging MP:0010768 9.7 COL10A1 COL5A1 FURIN HSPD1 MB PDGFRA
6 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:

42
Eye, Myeloid, Bone, Heart, Bone Marrow

Publications for Corneal Dystrophy, Subepithelial Mucinous

Articles related to Corneal Dystrophy, Subepithelial Mucinous:

# Title Authors Year
1
Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations. ( 8352693 )
1993

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 CMA1 COL10A1 COL5A1 FURIN
2 10.32 PDGFRA PDGFRB
3 9.77 PDGFRA PDGFRB

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 extracellular space GO:0005615 9.5 CMA1 COL10A1 COL5A1 FURIN HSPD1 IFNA1
2 collagen-containing extracellular matrix GO:0062023 8.92 CMA1 COL10A1 COL5A1 TGFBI

Biological processes 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 signaling pathway GO:0048008 9.48 PDGFRA PDGFRB
2 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFRA PDGFRB
3 cardiac myofibril assembly GO:0055003 9.4 PDGFRA PDGFRB
4 positive regulation of phospholipase C activity GO:0010863 9.37 PDGFRA PDGFRB
5 retina vasculature development in camera-type eye GO:0061298 9.32 PDGFRA PDGFRB
6 response to hydrogen peroxide GO:0042542 9.26 MB PDGFRB
7 metanephric glomerular capillary formation GO:0072277 9.16 PDGFRA PDGFRB
8 positive regulation of interleukin-6 secretion GO:2000778 9.13 XBP1
9 extracellular matrix organization GO:0030198 9.02 COL10A1 COL5A1 FURIN PDGFRA TGFBI
10 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 8.96 PDGFRA PDGFRB

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 COL10A1 COL5A1 TGFBI
2 platelet-derived growth factor receptor binding GO:0005161 9.16 PDGFRA PDGFRB
3 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRA PDGFRB
4 platelet-derived growth factor binding GO:0048407 8.8 COL5A1 PDGFRA PDGFRB

Sources for Corneal Dystrophy, Subepithelial Mucinous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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