MCID: SKN004
MIFTS: 29

Skin Amelanotic Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Skin Amelanotic Melanoma

MalaCards integrated aliases for Skin Amelanotic Melanoma:

Name: Skin Amelanotic Melanoma 12 15
Skin Amelanotic Malignant Melanoma 12
Amelanotic Skin Melanoma 17

Classifications:



External Ids:

Disease Ontology 12 DOID:10054
NCIt 50 C4633
SNOMED-CT 67 276751004
UMLS 71 C0349515

Summaries for Skin Amelanotic Melanoma

MalaCards based summary : Skin Amelanotic Melanoma, also known as skin amelanotic malignant melanoma, is related to amelanotic melanoma and antenatal bartter syndrome. An important gene associated with Skin Amelanotic Melanoma is CFAP410 (Cilia And Flagella Associated Protein 410), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include skin, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Skin Amelanotic Melanoma

Diseases related to Skin Amelanotic Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 amelanotic melanoma 11.3
2 antenatal bartter syndrome 10.3 PTGER4 PTGER3
3 optic atrophy 5 10.2 OPA1 DNM1L
4 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.1 OPA1 MFN2 DNM1L
5 toxic optic neuropathy 10.1 MFN2 AQP4
6 combined oxidative phosphorylation deficiency 7 10.1 MFN2 AQP4
7 behr syndrome 10.0 OPA1 MFN2
8 scotoma 10.0 OPA1 DNM1L AQP4
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 SDHA MFN2 MFN1 DNM1L
10 pyriform sinus cancer 9.9 RPS6KB1 EIF4EBP1
11 optic atrophy 3, autosomal dominant 9.9 MFN2 MFN1
12 diamond-blackfan anemia 20 9.9 STK11 RPS6KB1
13 kidney angiomyolipoma 9.9 RPS6KB1 EIF4EBP1
14 charcot-marie-tooth disease 9.7 OPA1 MFN2 MFN1 FIS1 DNM1L
15 tuberous sclerosis 1 9.6 STK11 RPS6KB1 EIF4EBP1
16 tuberous sclerosis 2 9.6 STK11 RPS6KB1 EIF4EBP1
17 3-methylglutaconic aciduria, type iii 9.6 OPA1 MT-CO1 MFN2 MFN1 FIS1 DNM1L
18 muscle hypertrophy 9.6 RPS6KB1 PPARGC1A EIF4EBP1
19 parkinson disease, late-onset 9.5 VDAC1 MFN2 MFN1 FIS1 EIF4EBP1 DNM1L
20 leigh syndrome 9.5 SDHA PPARGC1A MT-CO1 DNM1L COX4I1
21 mitochondrial myopathy 9.4 VDAC1 PPARGC1A MT-CO1 MFN2 DNM1L
22 hypertrophic cardiomyopathy 9.3 VCL PPARGC1A OPA1 MT-CO1 MFN2
23 cranial nerve disease 9.1 PPARGC1A OPA1 MFN2 MFN1 FIS1 DNM1L
24 peripheral nervous system disease 9.1 PPARGC1A OPA1 MFN2 MFN1 FIS1 DNM1L
25 leber hereditary optic neuropathy, modifier of 9.1 VDAC1 PPARGC1A OPA1 MT-CO1 MFN2 MFN1
26 optic atrophy 1 8.9 VDAC1 SIRT3 PPARGC1A OPA1 MFN2 MFN1
27 optic nerve disease 8.7 VDAC1 PPARGC1A OPA1 MT-CO1 MFN2 MFN1
28 disease of mental health 8.6 VDAC1 SIRT3 RPS6KB1 PPARGC1A MT-CO1 MFN2

Graphical network of the top 20 diseases related to Skin Amelanotic Melanoma:



Diseases related to Skin Amelanotic Melanoma

Symptoms & Phenotypes for Skin Amelanotic Melanoma

GenomeRNAi Phenotypes related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.6 RPS6KB1
2 Decreased viability GR00240-S-1 9.6 STK11
3 Decreased viability GR00249-S 9.6 DNM1L EIF4EBP1 MFN1 PPARGC1A SIRT3 VCL
4 Decreased viability GR00301-A 9.6 RPS6KB1
5 Decreased viability GR00381-A-1 9.6 DNM1L OPA1 RPS6KB1
6 Decreased viability GR00386-A-1 9.6 CFAP410 DNM1L OPA1 PTGER4 STK11
7 Decreased viability GR00402-S-2 9.6 RPS6KB1 VDAC1

MGI Mouse Phenotypes related to Skin Amelanotic Melanoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 AQP4 COX4I1 DNM1L EIF4EBP1 MFN1 MFN2
2 behavior/neurological MP:0005386 10.29 AQP4 COX4I1 DNM1L FIS1 MFN1 MFN2
3 cellular MP:0005384 10.28 DNM1L EIF4EBP1 FIS1 MFN1 MFN2 MT-CO1
4 cardiovascular system MP:0005385 10.27 AQP4 DNM1L EIF4EBP1 MFN2 MT-CO1 OPA1
5 homeostasis/metabolism MP:0005376 10.22 AQP4 DNM1L EIF4EBP1 FIS1 MFN2 MT-CO1
6 mortality/aging MP:0010768 10.11 AQP4 COX4I1 DNM1L EIF4EBP1 FIS1 MFN1
7 embryo MP:0005380 10.06 COX4I1 DNM1L MFN1 MFN2 OPA1 RPS6KB1
8 immune system MP:0005387 10 AQP4 CFAP410 FIS1 MT-CO1 PPARGC1A PTGER3
9 muscle MP:0005369 9.73 DNM1L EIF4EBP1 FIS1 MFN2 MT-CO1 OPA1
10 nervous system MP:0003631 9.36 AQP4 COX4I1 DNM1L MFN1 MFN2 OPA1

Drugs & Therapeutics for Skin Amelanotic Melanoma

Search Clinical Trials , NIH Clinical Center for Skin Amelanotic Melanoma

Genetic Tests for Skin Amelanotic Melanoma

Anatomical Context for Skin Amelanotic Melanoma

MalaCards organs/tissues related to Skin Amelanotic Melanoma:

40
Skin

Publications for Skin Amelanotic Melanoma

Variations for Skin Amelanotic Melanoma

Cosmic variations for Skin Amelanotic Melanoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107359 NRAS skin,NS,malignant melanoma,amelanotic c.182A>G p.Q61R 1:114713908-114713908 9
2 COSM118788384 BRAF skin,NS,malignant melanoma,amelanotic c.1801A>G p.K601E 7:140753334-140753334 9
3 COSM118787231 BRAF skin,NS,malignant melanoma,amelanotic c.1799T>A p.V600E 7:140753336-140753336 9
4 COSM88803061 BRAF skin,NS,malignant melanoma,amelanotic c.1919T>A p.V640E 7:140753336-140753336 9
5 COSM150563774 BRAF skin,NS,malignant melanoma,amelanotic c.1799T>A p.V600E 7:140753336-140753336 9
6 COSM88804430 BRAF skin,NS,malignant melanoma,amelanotic c.1921A>G p.K641E 7:140753334-140753334 9
7 COSM149386940 BRAF skin,NS,malignant melanoma,amelanotic c.1921A>G p.K641E 7:140753334-140753334 9
8 COSM149385292 BRAF skin,NS,malignant melanoma,amelanotic c.1919T>A p.V640E 7:140753336-140753336 9
9 COSM150564452 BRAF skin,NS,malignant melanoma,amelanotic c.1801A>G p.K601E 7:140753334-140753334 9

Expression for Skin Amelanotic Melanoma

Search GEO for disease gene expression data for Skin Amelanotic Melanoma.

Pathways for Skin Amelanotic Melanoma

GO Terms for Skin Amelanotic Melanoma

Cellular components related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 VDAC1 VCL STK11 SDHA RPS6KB1 PTGER4
2 protein-containing complex GO:0032991 9.8 VDAC1 VCL SIRT3 FIS1 EIF4EBP1 DNM1L
3 mitochondrial membrane GO:0031966 9.56 VDAC1 OPA1 DNM1L COX4I1
4 mitochondrial outer membrane GO:0005741 9.5 VDAC1 RPS6KB1 OPA1 MFN2 MFN1 FIS1
5 mitochondrion GO:0005739 9.44 VDAC1 STK11 SIRT3 SDHA RPS6KB1 OPA1
6 mitochondrial respiratory chain complex IV GO:0005751 9.37 MT-CO1 COX4I1
7 intrinsic component of mitochondrial outer membrane GO:0031306 9.16 MFN2 MFN1

Biological processes related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.95 VDAC1 STK11 RPS6KB1 OPA1 MFN2 FIS1
2 macroautophagy GO:0016236 9.77 VDAC1 MFN2 MFN1
3 electron transport chain GO:0022900 9.76 SDHA MT-CO1 COX4I1
4 response to nutrient levels GO:0031667 9.74 RPS6KB1 PPARGC1A OPA1
5 mitochondrion organization GO:0007005 9.67 SIRT3 PPARGC1A OPA1 DNM1L
6 negative regulation of reactive oxygen species metabolic process GO:2000378 9.65 VDAC1 SIRT3
7 camera-type eye morphogenesis GO:0048593 9.65 YY1 MFN2
8 release of cytochrome c from mitochondria GO:0001836 9.64 FIS1 DNM1L
9 positive regulation of dendritic spine morphogenesis GO:0061003 9.64 OPA1 DNM1L
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.63 MT-CO1 COX4I1
11 protein complex oligomerization GO:0051259 9.63 OPA1 DNM1L
12 regulation of mitochondrion organization GO:0010821 9.62 FIS1 DNM1L
13 TOR signaling GO:0031929 9.62 RPS6KB1 EIF4EBP1
14 positive regulation of mitochondrial fission GO:0090141 9.61 FIS1 DNM1L
15 regulation of autophagy of mitochondrion GO:1903146 9.61 VDAC1 DNM1L
16 GTP metabolic process GO:0046039 9.59 OPA1 MFN1
17 peroxisome fission GO:0016559 9.58 FIS1 DNM1L
18 response to electrical stimulus GO:0051602 9.58 PPARGC1A OPA1 MT-CO1
19 mitochondrion localization GO:0051646 9.56 MFN2 MFN1
20 intracellular distribution of mitochondria GO:0048312 9.55 OPA1 DNM1L
21 mitochondrial fragmentation involved in apoptotic process GO:0043653 9.54 FIS1 DNM1L
22 skeletal muscle atrophy GO:0014732 9.52 RPS6KB1 PPARGC1A
23 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.51 OPA1 DNM1L
24 mitochondrion morphogenesis GO:0070584 9.5 OPA1 FIS1 DNM1L
25 organelle fission GO:0048285 9.49 OPA1 DNM1L
26 response to leucine GO:0043201 9.46 RPS6KB1 PPARGC1A
27 response to electrical stimulus involved in regulation of muscle adaptation GO:0014878 9.43 RPS6KB1 PPARGC1A
28 mitochondrial fission GO:0000266 9.43 OPA1 FIS1 DNM1L
29 aging GO:0007568 9.35 SIRT3 RPS6KB1 PPARGC1A OPA1 MT-CO1
30 respiratory electron transport chain GO:0022904 9.33 SDHA PPARGC1A MT-CO1
31 mitochondrial fusion GO:0008053 8.92 OPA1 MFN2 MFN1 FIS1

Molecular functions related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 YY1 VDAC1 VCL STK11 SIRT3 SDHA
2 GTPase activity GO:0003924 9.62 OPA1 MFN2 MFN1 DNM1L
3 ubiquitin protein ligase binding GO:0031625 9.56 VCL PPARGC1A MFN2 DNM1L
4 prostaglandin E receptor activity GO:0004957 8.96 PTGER4 PTGER3
5 prostaglandin receptor activity GO:0004955 8.62 PTGER4 PTGER3

Sources for Skin Amelanotic Melanoma

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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