MCID: PHK008
MIFTS: 21

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 58
Phakomatosis Pigmentovascularis Type 2 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q85.8
Orphanet 58 ORPHA79483

Summaries for Phakomatosis Cesioflammea

MalaCards based summary : Phakomatosis Cesioflammea, also known as phakomatosis pigmentovascularis type 2, is related to phacomatosis pigmentovascularis and intraocular pressure quantitative trait locus. An important gene associated with Phakomatosis Cesioflammea is GNA11 (G Protein Subunit Alpha 11), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Pathways in cancer. Affiliated tissues include eye and skin.

Related Diseases for Phakomatosis Cesioflammea

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



Diseases related to Phakomatosis Cesioflammea

Symptoms & Phenotypes for Phakomatosis Cesioflammea

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:

40
Eye, Skin

Publications for Phakomatosis Cesioflammea

Articles related to Phakomatosis Cesioflammea:

# Title Authors PMID Year
1
Phakomatosis pigmentovascularis IIb (phakomatosis cesioflammea) associated with the absence of infrarenal inferior vena cava. 61
33314074 2020
2
Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome. 61
32055518 2020
3
Phakomatosis cesioflammea with bilateral frontal atrophy. 61
27057501 2016
4
Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up. 61
19335431 2009
5
Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature. 61
18045734 2008

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
Show member pathways
12.42 GNAQ GNA11
2 12.38 GNAQ GNA11
3 12.18 GNAQ GNA11
4
Show member pathways
12.18 GNAQ GNA11
5
Show member pathways
12.14 GNAQ GNA11
6
Show member pathways
12.12 GNAQ GNA11
7
Show member pathways
12.09 GNAQ GNA11
8 12 GNAQ GNA11
9
Show member pathways
11.98 GNAQ GNA11
10
Show member pathways
11.94 GNAQ GNA11
12
Show member pathways
11.88 GNAQ GNA11
13
Show member pathways
11.86 GNAQ GNA11
14
Show member pathways
11.8 GNAQ GNA11
15
Show member pathways
11.69 GNAQ GNA11
16 11.66 GNAQ GNA11
17
Show member pathways
11.64 GNAQ GNA11
18
Show member pathways
11.62 GNAQ GNA11
19
Show member pathways
11.58 GNAQ GNA11
20 11.54 GNAQ GNA11
21 11.5 GNAQ GNA11
22 11.45 GNAQ GNA11
23 11.4 GNAQ GNA11
24 11.33 GNAQ GNA11
25 11.25 GNAQ GNA11
26 11.21 GNAQ GNA11
27 11.2 GNAQ GNA11
28 11.15 GNAQ GNA11
29 11.03 GNAQ GNA11
30 10.85 GNAQ GNA11
31 10.7 GNAQ GNA11
32 10.49 GNAQ GNA11
33
Show member pathways
9.83 GNAQ GNA11

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 GNAQ GNA11
2 photoreceptor outer segment GO:0001750 8.96 GNAQ GNA11
3 heterotrimeric G-protein complex GO:0005834 8.62 GNAQ GNA11

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 GNAQ GNA11
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.32 GNAQ GNA11
3 action potential GO:0001508 9.26 GNAQ GNA11
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNAQ GNA11
5 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
6 entrainment of circadian clock GO:0009649 8.62 GNAQ GNA11

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 GNAQ GNA11
2 GTPase activity GO:0003924 9.32 GNAQ GNA11
3 G protein-coupled receptor binding GO:0001664 9.26 GNAQ GNA11
4 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNAQ GNA11
5 guanyl nucleotide binding GO:0019001 8.96 GNAQ GNA11
6 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Phakomatosis Cesioflammea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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