SMCD
MCID: CRN273
MIFTS: 34

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 73
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:

OMIM 57 612867
Disease Ontology 12 DOID:0060454
ICD10 33 H18.5
MeSH 44 C567547
Orphanet 59 ORPHA98959
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 74 C2748503
MedGen 42 C2748503
SNOMED-CT via HPO 69 263681008 5587004
UMLS 73 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 G-protein signaling N-RAS regulation pathway. Affiliated tissues include eye, bone and heart, 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 29)
# Related Disease Score Top Affiliating Genes
1 metaphyseal chondrodysplasia, schmid type 32.3 COL10A1 RMRP XBP1
2 systemic mastocytosis 32.2 FIP1L1 PDGFRA PDGFRB
3 mastocytosis 30.2 FIP1L1 PDGFRA PDGFRB
4 pdgfra-associated chronic eosinophilic leukemia 10.2 FIP1L1 PDGFRA
5 loeffler endocarditis 10.2 FIP1L1 PDGFRA
6 endomyocardial fibrosis 10.2 FIP1L1 PDGFRA
7 sm-ahnmd 10.2 FIP1L1 PDGFRA
8 cartilage-hair hypoplasia 10.2 COL10A1 RMRP
9 corneal dystrophy 10.2
10 pyle disease 10.2 COL10A1 RMRP
11 gas gangrene 10.2 MB TNNI3
12 pericardium cancer 10.1 MB TNNI3
13 intermediate coronary syndrome 10.1 MB TNNI3
14 myofibroma 10.1 MB PDGFRB
15 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.1 PDGFRA PDGFRB
16 desmoid tumor 10.0 PDGFRA PDGFRB
17 cavernous hemangioma 10.0 MB PDGFRA XBP1
18 heart sarcoma 10.0 PDGFRA PDGFRB
19 atypical chronic myeloid leukemia 10.0 PDGFRA PDGFRB
20 primary hypereosinophilic syndrome 10.0 FIP1L1 PDGFRA PDGFRB
21 hypereosinophilic syndrome 10.0 FIP1L1 PDGFRA PDGFRB
22 hypereosinophilic syndrome, idiopathic 10.0 FIP1L1 PDGFRA PDGFRB
23 infantile myofibromatosis 10.0 MB PDGFRB
24 chronic eosinophilic leukemia 10.0 FIP1L1 PDGFRA PDGFRB
25 myeloproliferative neoplasm 10.0 FIP1L1 PDGFRA PDGFRB
26 leiomyosarcoma 10.0 MB PDGFRA PDGFRB
27 squamous cell papilloma 9.9 HPGDS HSPD1
28 rhabdomyosarcoma 9.8 MB PDGFRA PDGFRB
29 spinal chordoma 9.8 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

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

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 CMA1 COL5A1 CTSS TNNI3

MGI Mouse Phenotypes related to Corneal Dystrophy, Subepithelial Mucinous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 COL10A1 CTSS HPGDS HSPD1 PDGFRA PDGFRB
2 cardiovascular system MP:0005385 9.97 COL5A1 CTSS FURIN MB PDGFRA PDGFRB
3 embryo MP:0005380 9.87 COL5A1 FURIN HSPD1 MB PDGFRA PDGFRB
4 hematopoietic system MP:0005397 9.86 CMA1 COL10A1 CTSS FURIN MB PDGFRA
5 immune system MP:0005387 9.76 CMA1 COL10A1 CTSS FURIN HPGDS PDGFRA
6 mortality/aging MP:0010768 9.65 COL10A1 COL5A1 FURIN HPGDS HSPD1 MB
7 muscle MP:0005369 9.17 CTSS HSPD1 MB PDGFRA PDGFRB 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, Bone, Heart, Myeloid

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
11.68 CMA1 COL10A1 COL5A1 CTSS FURIN
2
Show member pathways
11.39 CTSS PDGFRA PDGFRB
3 10.52 PDGFRA PDGFRB
4 10.1 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 collagen-containing extracellular matrix GO:0062023 8.92 CMA1 COL10A1 COL5A1 CTSS

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.62 COL10A1 COL5A1 FURIN PDGFRA
2 extracellular matrix disassembly GO:0022617 9.54 CMA1 CTSS FURIN
3 platelet-derived growth factor receptor signaling pathway GO:0048008 9.51 PDGFRA PDGFRB
4 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.49 PDGFRA PDGFRB
5 positive regulation of interleukin-6 secretion GO:2000778 9.48 HSPD1 XBP1
6 cardiac myofibril assembly GO:0055003 9.46 PDGFRA PDGFRB
7 positive regulation of phospholipase C activity GO:0010863 9.43 PDGFRA PDGFRB
8 response to hydrogen peroxide GO:0042542 9.43 HSPD1 MB PDGFRB
9 retina vasculature development in camera-type eye GO:0061298 9.4 PDGFRA PDGFRB
10 basement membrane disassembly GO:0034769 9.16 CMA1 CTSS
11 metanephric glomerular capillary formation GO:0072277 8.96 PDGFRA PDGFRB
12 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 8.62 PDGFRA PDGFRB

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 9.26 PDGFRA PDGFRB
2 proteoglycan binding GO:0043394 9.16 COL5A1 CTSS
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....