MCID: PHK008
MIFTS: 24

Phakomatosis Cesioflammea

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Phakomatosis Cesioflammea

MalaCards integrated aliases for Phakomatosis Cesioflammea:

Name: Phakomatosis Cesioflammea 59
Phakomatosis Pigmentovascularis Type 2 59

Classifications:



External Ids:

Orphanet 59 ORPHA79483
ICD10 via Orphanet 34 Q85.8

Summaries for Phakomatosis Cesioflammea

MalaCards based summary : Phakomatosis Cesioflammea, also known as phakomatosis pigmentovascularis type 2, is related to intraocular melanoma and malignant conjunctival melanoma. An important gene associated with Phakomatosis Cesioflammea is GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are Pathways in cancer and Aldosterone synthesis and secretion. Affiliated tissues include skin and eye, and related phenotype is pigmentation.

Related Diseases for Phakomatosis Cesioflammea

Diseases related to Phakomatosis Cesioflammea via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 intraocular melanoma 9.9 GNA11 GNAQ
2 malignant conjunctival melanoma 9.9 GNA11 GNAQ
3 melanomatosis 9.9 GNA11 GNAQ
4 conjunctival cancer 9.9 GNA11 GNAQ
5 meningeal melanomatosis 9.9 GNA11 GNAQ
6 mucosal melanoma 9.9 GNA11 GNAQ
7 meningeal melanocytoma 9.8 GNA11 GNAQ
8 central nervous system melanocytic neoplasm 9.8 GNA11 GNAQ
9 uveal disease 9.8 GNA11 GNAQ
10 ocular cancer 9.8 GNA11 GNAQ
11 melanoma, uveal 9.8 GNA11 GNAQ
12 melanoma, cutaneous malignant 1 9.7 GNA11 GNAQ

Graphical network of the top 20 diseases related to Phakomatosis Cesioflammea:



Diseases related to Phakomatosis Cesioflammea

Symptoms & Phenotypes for Phakomatosis Cesioflammea

MGI Mouse Phenotypes related to Phakomatosis Cesioflammea:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 GNA11 GNAQ

Drugs & Therapeutics for Phakomatosis Cesioflammea

Search Clinical Trials , NIH Clinical Center for Phakomatosis Cesioflammea

Genetic Tests for Phakomatosis Cesioflammea

Anatomical Context for Phakomatosis Cesioflammea

MalaCards organs/tissues related to Phakomatosis Cesioflammea:

41
Skin, Eye

Publications for Phakomatosis Cesioflammea

Articles related to Phakomatosis Cesioflammea:

# Title Authors Year
1
Phakomatosis cesioflammea with bilateral frontal atrophy. ( 27057501 )
2016
2
Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up. ( 19335431 )
2009

Variations for Phakomatosis Cesioflammea

Expression for Phakomatosis Cesioflammea

Search GEO for disease gene expression data for Phakomatosis Cesioflammea.

Pathways for Phakomatosis Cesioflammea

Pathways related to Phakomatosis Cesioflammea according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1 12.38 GNA11 GNAQ
2
Show member pathways
12.32 GNA11 GNAQ
3
Show member pathways
12.29 GNA11 GNAQ
4
Show member pathways
12.23 GNA11 GNAQ
5
Show member pathways
12.17 GNA11 GNAQ
6 12.17 GNA11 GNAQ
7
Show member pathways
12.12 GNA11 GNAQ
8
Show member pathways
12.02 GNA11 GNAQ
9
Show member pathways
11.97 GNA11 GNAQ
10
Show member pathways
11.93 GNA11 GNAQ
12
Show member pathways
11.86 GNA11 GNAQ
13
Show member pathways
11.79 GNA11 GNAQ
14
Show member pathways
11.76 GNA11 GNAQ
15
Show member pathways
11.67 GNA11 GNAQ
16 11.66 GNA11 GNAQ
17
Show member pathways
11.64 GNA11 GNAQ
18
Show member pathways
11.62 GNA11 GNAQ
19
Show member pathways
11.58 GNA11 GNAQ
20 11.54 GNA11 GNAQ
21 11.48 GNA11 GNAQ
22 11.45 GNA11 GNAQ
23 11.38 GNA11 GNAQ
24 11.31 GNA11 GNAQ
25 11.22 GNA11 GNAQ
26 11.19 GNA11 GNAQ
27 11.15 GNA11 GNAQ
28 11.03 GNA11 GNAQ
29 10.87 GNA11 GNAQ
30 10.85 GNA11 GNAQ
31 10.7 GNA11 GNAQ
32 10.49 GNA11 GNAQ
33
Show member pathways
9.83 GNA11 GNAQ

GO Terms for Phakomatosis Cesioflammea

Cellular components related to Phakomatosis Cesioflammea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.16 GNA11 GNAQ
2 photoreceptor outer segment GO:0001750 8.96 GNA11 GNAQ
3 heterotrimeric G-protein complex GO:0005834 8.62 GNA11 GNAQ

Biological processes related to Phakomatosis Cesioflammea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.37 GNA11 GNAQ
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.32 GNA11 GNAQ
3 action potential GO:0001508 9.26 GNA11 GNAQ
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNA11 GNAQ
5 phototransduction, visible light GO:0007603 8.96 GNA11 GNAQ
6 entrainment of circadian clock GO:0009649 8.62 GNA11 GNAQ

Molecular functions related to Phakomatosis Cesioflammea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.37 GNA11 GNAQ
2 GTPase activity GO:0003924 9.32 GNA11 GNAQ
3 G protein-coupled receptor binding GO:0001664 9.26 GNA11 GNAQ
4 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA11 GNAQ
5 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
6 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Phakomatosis Cesioflammea

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
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