MCID: CBB001
MIFTS: 22

Cobblestone Retinal Degeneration

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Cobblestone Retinal Degeneration

MalaCards integrated aliases for Cobblestone Retinal Degeneration:

Name: Cobblestone Retinal Degeneration 12 15
Paving Stone Retinal Degeneration 12 71
Paving Stone Degeneration of Retina 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12166
ICD9CM 34 362.61
SNOMED-CT 67 69134001
ICD10 32 H35.43
UMLS 71 C0154854

Summaries for Cobblestone Retinal Degeneration

MalaCards based summary : Cobblestone Retinal Degeneration, also known as paving stone retinal degeneration, is related to malignant spindle cell melanoma and small intestinal sarcoma. An important gene associated with Cobblestone Retinal Degeneration is BANF1 (BAF Nuclear Assembly Factor 1), and among its related pathways/superpathways are T cell receptor signaling pathway and Immune response Fc epsilon RI pathway. Affiliated tissues include retina, and related phenotype is no phenotypic analysis.

Related Diseases for Cobblestone Retinal Degeneration

Diseases related to Cobblestone Retinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 malignant spindle cell melanoma 10.1 HRAS CD68
2 small intestinal sarcoma 10.0 PTPRC CD68
3 heart lymphoma 10.0 PTPRC CD68
4 glomeruloid hemangioma 10.0 PTPRC CD68
5 malignant giant cell tumor of the tendon sheath 10.0 PTPRC CD68
6 histiocytic and dendritic cell cancer 10.0 PTPRC CD68
7 malignant giant cell tumor of soft parts 10.0 PTPRC CD68
8 dendritic cell tumor 10.0 PTPRC CD68
9 conventional fibrosarcoma 10.0 PTPRC CD68
10 pigmented villonodular synovitis 10.0 PTPRC CD68
11 skin benign neoplasm 10.0 HRAS CD68
12 myeloid sarcoma 10.0 PTPRC CD68
13 reticulosarcoma 10.0 PTPRC CD68
14 cystadenocarcinoma 9.9 PTPRC HRAS
15 monoclonal gammopathy of uncertain significance 9.9 PTPRC HRAS
16 benign giant cell tumor 9.9 PTPRC CD68
17 ectodermal dysplasia 1, hypohidrotic, x-linked 9.9 PTPRC CD68
18 langerhans cell histiocytosis 9.9 PTPRC CD68
19 trachea carcinoma in situ 9.9 KRAS HRAS
20 nasal cavity adenocarcinoma 9.9 KRAS HRAS
21 ampulla of vater neoplasm 9.9 KRAS HRAS
22 descending colon cancer 9.9 KRAS HRAS
23 periampullary adenoma 9.9 KRAS HRAS
24 adenosquamous lung carcinoma 9.9 KRAS HRAS
25 acneiform dermatitis 9.9 KRAS HRAS
26 transverse colon cancer 9.9 KRAS HRAS
27 appendiceal neoplasm 9.9 KRAS HRAS
28 gallbladder benign neoplasm 9.9 KRAS HRAS
29 myh-associated polyposis 9.9 KRAS HRAS
30 appendix adenocarcinoma 9.9 KRAS HRAS
31 mucinous lung adenocarcinoma 9.9 KRAS HRAS
32 wolffian duct adenocarcinoma 9.9 KRAS HRAS
33 ascending colon cancer 9.9 KRAS HRAS
34 biliary tract benign neoplasm 9.9 KRAS HRAS
35 tumor of exocrine pancreas 9.9 KRAS HRAS
36 pancreatic acinar cell adenocarcinoma 9.9 KRAS HRAS
37 endosalpingiosis 9.8 KRAS HRAS
38 core binding factor acute myeloid leukemia 9.8 KRAS HRAS
39 lung carcinoma in situ 9.8 KRAS HRAS
40 appendix disease 9.8 KRAS HRAS
41 paronychia 9.8 KRAS HRAS
42 duodenum adenocarcinoma 9.8 KRAS HRAS
43 pulmonary adenocarcinoma in situ 9.8 KRAS HRAS
44 adenocarcinoma in situ 9.8 KRAS HRAS
45 bile duct cysts 9.8 KRAS HRAS
46 papillary adenoma 9.8 KRAS HRAS
47 appendix cancer 9.8 KRAS HRAS
48 large intestine adenocarcinoma 9.8 KRAS HRAS
49 oculoectodermal syndrome 9.8 KRAS HRAS
50 myasthenic syndrome, congenital, 14 9.8 KRAS HRAS

Graphical network of the top 20 diseases related to Cobblestone Retinal Degeneration:



Diseases related to Cobblestone Retinal Degeneration

Symptoms & Phenotypes for Cobblestone Retinal Degeneration

MGI Mouse Phenotypes related to Cobblestone Retinal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 CD68 HRAS KRAS PTPRC

Drugs & Therapeutics for Cobblestone Retinal Degeneration

Search Clinical Trials , NIH Clinical Center for Cobblestone Retinal Degeneration

Genetic Tests for Cobblestone Retinal Degeneration

Anatomical Context for Cobblestone Retinal Degeneration

MalaCards organs/tissues related to Cobblestone Retinal Degeneration:

40
Retina

Publications for Cobblestone Retinal Degeneration

Variations for Cobblestone Retinal Degeneration

Expression for Cobblestone Retinal Degeneration

Search GEO for disease gene expression data for Cobblestone Retinal Degeneration.

Pathways for Cobblestone Retinal Degeneration

Pathways related to Cobblestone Retinal Degeneration according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 PTPRC KRAS HRAS
2
Show member pathways
12.24 PTPRC KRAS HRAS
3
Show member pathways
12.12 PTPRC KRAS HRAS
4
Show member pathways
12.04 PTPRC KRAS HRAS
5
Show member pathways
11.94 PTPRC KRAS HRAS
6
Show member pathways
11.59 KRAS HRAS
7 11.58 KRAS HRAS
8
Show member pathways
11.55 KRAS HRAS
9 11.49 KRAS HRAS
10 11.46 KRAS HRAS
11 11.44 KRAS HRAS
12
Show member pathways
11.42 KRAS HRAS
13 11.4 KRAS HRAS
14 11.37 KRAS HRAS
15 11.34 KRAS HRAS
16 11.26 KRAS HRAS
17 11.2 KRAS HRAS
18 11.1 KRAS HRAS
19 11.03 KRAS HRAS
20
Show member pathways
11.03 PTPRC KRAS HRAS
21 10.97 KRAS HRAS
22 10.95 KRAS HRAS
23
Show member pathways
10.92 KRAS HRAS
24
Show member pathways
10.82 KRAS HRAS
25 10.68 KRAS HRAS
26 10.6 KRAS HRAS
27 10.46 KRAS HRAS
28 10.07 KRAS HRAS

GO Terms for Cobblestone Retinal Degeneration

Biological processes related to Cobblestone Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.32 KRAS HRAS
2 Ras protein signal transduction GO:0007265 9.26 KRAS HRAS
3 positive regulation of MAP kinase activity GO:0043406 9.16 KRAS HRAS
4 regulation of long-term neuronal synaptic plasticity GO:0048169 8.96 KRAS HRAS
5 response to isolation stress GO:0035900 8.62 KRAS HRAS

Molecular functions related to Cobblestone Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.62 KRAS HRAS

Sources for Cobblestone Retinal Degeneration

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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