MCID: MLT003
MIFTS: 33

Multilocular Clear Cell Renal Cell Carcinoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Multilocular Clear Cell Renal Cell Carcinoma

MalaCards integrated aliases for Multilocular Clear Cell Renal Cell Carcinoma:

Name: Multilocular Clear Cell Renal Cell Carcinoma 12 15
Cystadenocarcinoma of Kidney 12 73
Renal Cystadenocarcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4463
NCIt 50 C4524
SNOMED-CT 68 254916002
UMLS 73 C0346249

Summaries for Multilocular Clear Cell Renal Cell Carcinoma

MalaCards based summary : Multilocular Clear Cell Renal Cell Carcinoma, also known as cystadenocarcinoma of kidney, is related to multilocular cystic renal neoplasm of low malignant potential and hereditary renal cell carcinoma, and has symptoms including flank pain An important gene associated with Multilocular Clear Cell Renal Cell Carcinoma is FLCN (Folliculin), and among its related pathways/superpathways are Akt Signaling and p70S6K Signaling. Affiliated tissues include kidney, skin and pancreas, and related phenotypes are cardiovascular system and cellular

Related Diseases for Multilocular Clear Cell Renal Cell Carcinoma

Diseases related to Multilocular Clear Cell Renal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 multilocular cystic renal neoplasm of low malignant potential 11.4
2 hereditary renal cell carcinoma 10.2 FLCN TSC2
3 pneumothorax 10.2 FLCN TSC1
4 adult hepatocellular carcinoma 10.1 TSC1 TSC2
5 subependymal glioma 10.1 TSC1 TSC2
6 benign ependymoma 10.1 TSC1 TSC2
7 tuberous sclerosis 1 10.1 TSC1 TSC2
8 lissencephaly with cerebellar hypoplasia 10.1 TSC1 TSC2
9 familial renal papillary carcinoma 10.1 FLCN TSC2
10 subependymal giant cell astrocytoma 10.1 TSC1 TSC2
11 corneal dystrophy, fleck 10.1 TSC1 TSC2
12 cystadenocarcinoma 10.0
13 focal cortical dysplasia, type ii 10.0 TSC1 TSC2
14 angiomyolipoma 9.9 TSC1 TSC2
15 uterine benign neoplasm 9.9 TGFB3 TSC2
16 tuberous sclerosis 2 9.9 TSC1 TSC2
17 reproductive organ benign neoplasm 9.9 TGFB3 TSC2
18 loeys-dietz syndrome 4 9.8 TGFB2 TGFB3
19 kidney angiomyolipoma 9.8 FLCN TSC1 TSC2
20 kidney benign neoplasm 9.8 FLCN TSC1 TSC2
21 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7 FLCN TSC1 TSC2
22 polycystic liver disease 1 with or without kidney cysts 9.7 FLCN TSC1 TSC2
23 polycystic kidney disease 1 with or without polycystic liver disease 9.7 TSC1 TSC2
24 tuberculoid leprosy 9.7 TGFB2 TGFB3
25 peyronie's disease 9.7 TGFB2 TGFB3
26 peutz-jeghers syndrome 9.6 TSC1 TSC2
27 renal cell carcinoma, nonpapillary 9.5 FLCN TSC1 TSC2
28 mitral valve disease 9.4 TGFB2 TGFB3
29 loeys-dietz syndrome 9.0 TGFB2 TGFB3

Graphical network of the top 20 diseases related to Multilocular Clear Cell Renal Cell Carcinoma:



Diseases related to Multilocular Clear Cell Renal Cell Carcinoma

Symptoms & Phenotypes for Multilocular Clear Cell Renal Cell Carcinoma

UMLS symptoms related to Multilocular Clear Cell Renal Cell Carcinoma:


flank pain

MGI Mouse Phenotypes related to Multilocular Clear Cell Renal Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 FLCN SLC2A4 TGFB2 TGFB3 TSC1 TSC2
2 cellular MP:0005384 9.8 C1QBP FLCN SLC2A4 TGFB2 TGFB3 TSC1
3 embryo MP:0005380 9.63 C1QBP FLCN TGFB2 TGFB3 TSC1 TSC2
4 growth/size/body region MP:0005378 9.5 TGFB2 TGFB3 TSC1 TSC2 C1QBP FLCN
5 mortality/aging MP:0010768 9.17 C1QBP FLCN SLC2A4 TGFB2 TGFB3 TSC1

Drugs & Therapeutics for Multilocular Clear Cell Renal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Multilocular Clear Cell Renal Cell Carcinoma

Genetic Tests for Multilocular Clear Cell Renal Cell Carcinoma

Anatomical Context for Multilocular Clear Cell Renal Cell Carcinoma

MalaCards organs/tissues related to Multilocular Clear Cell Renal Cell Carcinoma:

41
Kidney, Skin, Pancreas

Publications for Multilocular Clear Cell Renal Cell Carcinoma

Articles related to Multilocular Clear Cell Renal Cell Carcinoma:

# Title Authors Year
1
Loss of heterozygosity at the FLCN locus in early renal cystic lesions in dogs with renal cystadenocarcinoma and nodular dermatofibrosis. ( 19387735 )
2009
2
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. ( 14532326 )
2003
3
Expression of transforming growth factor-beta isoforms in the skin, kidney, pancreas and bladder in a German shepherd dog affected by renal cystadenocarcinoma and nodular dermatofibrosis. ( 15157018 )
2003
4
Renal microcystic tubular lesions in two 1Year-old dogs - an early sign of hereditary renal cystadenocarcinoma? ( 11032680 )
2000

Variations for Multilocular Clear Cell Renal Cell Carcinoma

Cosmic variations for Multilocular Clear Cell Renal Cell Carcinoma:

9
(show top 50) (show all 2130)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM249350 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 5
2 COSM249389 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 5
3 COSM249348 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 5
4 COSM249454 ZNF521 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3298A>G p.S1100G 18:25224620-25224620 5
5 COSM30510 ZNF423 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3559G>A p.V1187I 16:49626188-49626188 5
6 COSM6970086 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.7052G>A p.C2351Y 16:72795630-72795630 5
7 COSM3276983 ZFHX3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.745G>A p.G249S 16:72959401-72959401 5
8 COSM6961023 YES1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1069T>A p.L357I 18:739803-739803 5
9 COSM6935891 YAP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.374C>G p.A125G 11:102114196-102114196 5
10 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 5
11 COSM6946890 XIAP kidney,NS,carcinoma,clear cell renal cell carcinoma c.1001A>T p.K334M 23:123891261-123891261 5
12 COSM249421 WWP2 kidney,NS,carcinoma,clear cell renal cell carcinoma c.2056G>C p.E686Q 16:69936391-69936391 5
13 COSM1272065 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.332C>A p.P111H 11:32434810-32434810 5
14 COSM6201648 WT1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1228+1G>C p.? 11:32391971-32391971 5
15 COSM20759 WNK3 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3809C>A p.T1270N 23:54238942-54238942 5
16 COSM30715 WISP1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.868T>C p.C290R 8:133227474-133227474 5
17 COSM249385 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.1286A>G p.Q429R 13:41865963-41865963 5
18 COSM249519 VWA8 kidney,NS,carcinoma,clear cell renal cell carcinoma c.3300A>T p.E1100D 13:41701456-41701456 5
19 COSM6930635 VTCN1 kidney,NS,carcinoma,clear cell renal cell carcinoma c.98-1G>T p.? 1:117156922-117156922 5
20 COSM26611 VPS13B kidney,NS,carcinoma,clear cell renal cell carcinoma c.2580C>T p.Y860Y 8:99274262-99274262 5
21 COSM17855 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.233A>G p.N78S 3:10142080-10142080 5
22 COSM18024 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.598C>T p.R200W 3:10149921-10149921 5
23 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 5
24 COSM30224 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.326T>G p.I109S 3:10142173-10142173 5
25 COSM14375 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.343C>T p.H115Y 3:10146516-10146516 5
26 COSM14311 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 5
27 COSM18152 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.463G>A p.V155M 3:10146636-10146636 5
28 COSM17715 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.221T>A p.V74D 3:10142068-10142068 5
29 COSM18074 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.193T>C p.S65P 3:10142040-10142040 5
30 COSM25682 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.430G>T p.G144* 3:10146603-10146603 5
31 COSM249129 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.163G>T p.E55* 3:10142010-10142010 5
32 COSM18069 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.407T>A p.F136Y 3:10146580-10146580 5
33 COSM18192 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.350G>T p.W117L 3:10146523-10146523 5
34 COSM97092 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.241C>A p.P81T 3:10142088-10142088 5
35 COSM1731995 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.328C>A p.H110N 3:10142175-10142175 5
36 COSM3364888 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.221T>G p.V74G 3:10142068-10142068 5
37 COSM14390 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.269A>T p.N90I 3:10142116-10142116 5
38 COSM6918107 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.302T>G p.L101R 3:10142149-10142149 5
39 COSM18350 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 5
40 COSM14368 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.473T>A p.L158Q 3:10149796-10149796 5
41 COSM17721 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.241C>T p.P81S 3:10142088-10142088 5
42 COSM17711 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.208G>T p.E70* 3:10142055-10142055 5
43 COSM97154 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.565G>T p.E189* 3:10149888-10149888 5
44 COSM17612 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.481C>T p.R161* 3:10149804-10149804 5
45 COSM17928 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.463G>C p.V155L 3:10146636-10146636 5
46 COSM97146 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.357C>A p.F119L 3:10146530-10146530 5
47 COSM17789 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.525C>A p.Y175* 3:10149848-10149848 5
48 COSM26992 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.404T>G p.L135* 3:10146577-10146577 5
49 COSM14372 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.203C>A p.S68* 3:10142050-10142050 5
50 COSM34019 VHL kidney,NS,carcinoma,clear cell renal cell carcinoma c.361G>T p.D121Y 3:10146534-10146534 5

Expression for Multilocular Clear Cell Renal Cell Carcinoma

Search GEO for disease gene expression data for Multilocular Clear Cell Renal Cell Carcinoma.

Pathways for Multilocular Clear Cell Renal Cell Carcinoma

Pathways related to Multilocular Clear Cell Renal Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 SLC2A4 TGFB2 TGFB3 TSC1 TSC2
2
Show member pathways
12.61 TGFB2 TGFB3 TSC1 TSC2
3 12.21 C1QBP SLC2A4 TSC2
4
Show member pathways
12.18 SLC2A4 TSC1 TSC2
5
Show member pathways
12.15 FLCN TSC1 TSC2
6
Show member pathways
12.1 FLCN TGFB2 TGFB3
7
Show member pathways
12.05 SLC2A4 TSC1 TSC2
8 11.72 FLCN TSC1 TSC2
9
Show member pathways
11.57 SLC2A4 TSC1 TSC2
10 11.39 TGFB2 TGFB3
11 11.38 TSC1 TSC2
12 11.34 TGFB2 TGFB3
13 11.3 TGFB2 TGFB3
14 11.29 TSC1 TSC2
15
Show member pathways
11.27 SLC2A4 TGFB2 TGFB3
16 11.25 TGFB2 TGFB3
17 11.21 TSC1 TSC2
18 11.13 TGFB2 TGFB3 TSC1 TSC2
19 11.12 TSC1 TSC2
20 10.94 TSC1 TSC2
21 10.85 TGFB2 TGFB3

GO Terms for Multilocular Clear Cell Renal Cell Carcinoma

Cellular components related to Multilocular Clear Cell Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 8.96 SLC2A4 TGFB3
2 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Multilocular Clear Cell Renal Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.79 C1QBP FLCN TGFB3
2 negative regulation of cell proliferation GO:0008285 9.67 TGFB2 TGFB3 TSC1 TSC2
3 SMAD protein signal transduction GO:0060395 9.63 TGFB2 TGFB3
4 cell development GO:0048468 9.63 TGFB2 TGFB3
5 cell cycle arrest GO:0007050 9.63 TGFB2 TSC1 TSC2
6 regulation of MAPK cascade GO:0043408 9.62 TGFB2 TGFB3
7 negative regulation of protein kinase B signaling GO:0051898 9.61 FLCN TSC2
8 inner ear development GO:0048839 9.61 TGFB2 TGFB3
9 positive regulation of stress fiber assembly GO:0051496 9.6 TGFB3 TSC1
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.59 TGFB2 TGFB3
11 positive regulation of cell adhesion GO:0045785 9.58 C1QBP FLCN
12 positive regulation of cell division GO:0051781 9.58 TGFB2 TGFB3
13 positive regulation of epithelial to mesenchymal transition GO:0010718 9.57 TGFB2 TGFB3
14 response to progesterone GO:0032570 9.56 TGFB2 TGFB3
15 positive regulation of protein secretion GO:0050714 9.55 TGFB2 TGFB3
16 odontogenesis GO:0042476 9.54 TGFB2 TGFB3
17 negative regulation of insulin receptor signaling pathway GO:0046627 9.52 TSC1 TSC2
18 positive regulation of macroautophagy GO:0016239 9.51 TSC1 TSC2
19 cell-cell junction organization GO:0045216 9.49 TGFB2 TGFB3
20 cell growth GO:0016049 9.48 TGFB2 TGFB3
21 secondary palate development GO:0062009 9.43 TGFB2 TGFB3
22 neural tube closure GO:0001843 9.43 TGFB2 TSC1 TSC2
23 glucose import GO:0046323 9.4 SLC2A4 TSC1
24 salivary gland morphogenesis GO:0007435 9.32 TGFB2 TGFB3
25 negative regulation of macrophage cytokine production GO:0010936 9.16 TGFB2 TGFB3
26 uterine wall breakdown GO:0042704 8.96 TGFB2 TGFB3
27 negative regulation of TOR signaling GO:0032007 8.8 FLCN TSC1 TSC2

Molecular functions related to Multilocular Clear Cell Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.32 TGFB2 TGFB3
2 Hsp90 protein binding GO:0051879 9.26 TSC1 TSC2
3 BMP receptor binding GO:0070700 9.16 TGFB2 TGFB3
4 type II transforming growth factor beta receptor binding GO:0005114 8.96 TGFB2 TGFB3
5 type III transforming growth factor beta receptor binding GO:0034714 8.62 TGFB2 TGFB3

Sources for Multilocular Clear Cell Renal Cell Carcinoma

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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