Skin Amelanotic Melanoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:10054

NCIt ⁵⁰ C4633

SNOMED-CT ⁶⁷ 276751004

EFO ¹⁷ EFO_0002894

UMLS ⁷¹ C0349515

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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

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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:

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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

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Drugs & Therapeutics for Skin Amelanotic Melanoma

Search Clinical Trials , NIH Clinical Center for Skin Amelanotic Melanoma

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Genetic Tests for Skin Amelanotic Melanoma

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Anatomical Context for Skin Amelanotic Melanoma

MalaCards organs/tissues related to Skin Amelanotic Melanoma:

⁴⁰

Skin

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Publications for Skin Amelanotic Melanoma

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Genes for Skin Amelanotic Melanoma

Genes related to Skin Amelanotic Melanoma (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CFAP410	Cilia And Flagella Associated Protein 410	Protein Coding	5.29	DISEASES inferred ¹⁵
2	PTGER4	Prostaglandin E Receptor 4	Protein Coding	5.25	DISEASES inferred ¹⁵
3	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	4.56	DISEASES inferred ¹⁵
4	PTGER3	Prostaglandin E Receptor 3	Protein Coding	4.36	DISEASES inferred ¹⁵
5	FIS1	Fission, Mitochondrial 1	Protein Coding	4.29	DISEASES inferred ¹⁵
6	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	4.23	DISEASES inferred ¹⁵
7	MFN1	Mitofusin 1	Protein Coding	4.22	DISEASES inferred ¹⁵
8	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	4.1	DISEASES inferred ¹⁵
9	VDAC1	Voltage Dependent Anion Channel 1	Protein Coding	4.09	DISEASES inferred ¹⁵
10	DNM1L	Dynamin 1 Like	Protein Coding	4.05	DISEASES inferred ¹⁵
11	YY1	YY1 Transcription Factor	Protein Coding	4	DISEASES inferred ¹⁵
12	MFN2	Mitofusin 2	Protein Coding	3.98	DISEASES inferred ¹⁵
13	VCL	Vinculin	Protein Coding	3.9	DISEASES inferred ¹⁵
14	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	3.8	DISEASES inferred ¹⁵
15	SIRT3	Sirtuin 3	Protein Coding	3.64	DISEASES inferred ¹⁵
16	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	3.62	DISEASES inferred ¹⁵
17	AQP4	Aquaporin 4	Protein Coding	3.52	DISEASES inferred ¹⁵
18	STK11	Serine/Threonine Kinase 11	Protein Coding	3.47	DISEASES inferred ¹⁵
19	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	3.34	DISEASES inferred ¹⁵
20	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	3.33	DISEASES inferred ¹⁵

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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

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Expression for Skin Amelanotic Melanoma

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

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Pathways for Skin Amelanotic Melanoma

Pathways related to Skin Amelanotic Melanoma according to GeneCards Suite gene sharing:

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	13.25	VDAC1 SDHA PPARGC1A MT-CO1 MFN2 MFN1
2	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	12.45	VDAC1 SDHA MT-CO1 MFN2 MFN1 COX4I1
3	Cytoskeletal Signaling ⁴	12.3	VDAC1 VCL DNM1L COX4I1
4	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.25	STK11 RPS6KB1 PPARGC1A EIF4EBP1
5	Apoptosis and Autophagy ⁴	12.02	YY1 VDAC1 OPA1 COX4I1
6	NOD-like receptor signaling pathway ³⁶	11.99	VDAC1 MFN2 MFN1 DNM1L
7	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	11.94	STK11 RPS6KB1 EIF4EBP1 COX4I1
8	Longevity regulating pathway ³⁶ Show member pathways Longevity regulating pathway - multiple species ³⁶	11.8	STK11 RPS6KB1 PPARGC1A EIF4EBP1
9	Glucose / Energy Metabolism ⁴	11.72	STK11 SIRT3 SDHA PPARGC1A OPA1 MFN2
10	Mitophagy - animal ³⁶	11.49	MFN2 MFN1 FIS1
11	Mitophagy ⁶⁵ Show member pathways Pink/Parkin Mediated Mitophagy ⁶⁵	11.21	VDAC1 MFN2 MFN1
12	mTOR signaling pathway (Pathway Interaction Database) ¹	11.03	YY1 RPS6KB1 PPARGC1A EIF4EBP1
13	Sirolimus Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.51	YY1 RPS6KB1 PPARGC1A

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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

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Sources for Skin Amelanotic Melanoma

¹ BioSystems

² BitterDB

³ CDC

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²⁵ GeneReviews

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²⁷ GEO DataSets

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³² ICD10

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia