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AN
MCID: ACN002
MIFTS: 57

Acanthosis Nigricans (AN)

Categories: Rare diseases, Skin diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Acanthosis Nigricans

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MalaCards integrated aliases for Acanthosis Nigricans:

Name: Acanthosis Nigricans 57 11 19 75 28 53 5 43 14 16 71 31 33
Keratosis Nigricans 11
an 19

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:3138
OMIM® 57 100600
MeSH 43 D000052
NCIt 49 C26687
SNOMED-CT 68 72129000
ICD10 31 L83
MedGen 40 C0000889
SNOMED-CT via HPO 69 402599005
UMLS 71 C0000889
Sources

Summaries for Acanthosis Nigricans

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Disease Ontology: 11 A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.

MalaCards based summary: Acanthosis Nigricans, also known as keratosis nigricans, is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and lipodystrophy, familial partial, type 3, and has symptoms including pruritus An important gene associated with Acanthosis Nigricans is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Sodium citrate and Clomifene have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and lung, and related phenotypes are acanthosis nigricans and Increased shRNA abundance (Z-score > 2)

Wikipedia: 75 Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety... more...

More information from OMIM: 100600
Sources

Related Diseases for Acanthosis Nigricans

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Diseases related to Acanthosis Nigricans via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 509)
# Related Disease Score Top Affiliating Genes
1 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 32.1 INSR INS IGF1
2 lipodystrophy, familial partial, type 3 32.0 LMNA LEP INS
3 familial partial lipodystrophy 32.0 LMNA LEP INS ADIPOQ
4 lipodystrophy, familial partial, type 2 31.9 LMNA LEP INS ADIPOQ
5 congenital generalized lipodystrophy 31.8 LMNA LEP INSR INS ADIPOQ
6 abdominal obesity-metabolic syndrome 1 31.0 SLC2A4 LEP INS ADIPOQ
7 donohue syndrome 30.9 TBC1D4 LEP INSR INS IGF1R IGF1
8 achondroplasia 30.7 IGF1 FGFR3 FGFR2
9 acquired generalized lipodystrophy 30.5 LMNA LEP INS ADIPOQ
10 familial hyperlipidemia 30.4 LEP INS ADIPOQ
11 hyperandrogenism 30.3 SHBG INSR INS IGF1 GH1 ADIPOQ
12 skin tag 30.3 SHBG LEP INS IGF1
13 osteochondrodysplasia 30.2 PRMT7 INS IGF1 FGFR3 FGFR2
14 lipodystrophy, congenital generalized, type 2 30.2 LMNA LEP INS ADIPOQ
15 liver cirrhosis 30.2 SLC2A4 LEP INSR INS ADIPOQ
16 non-alcoholic steatohepatitis 30.2 LEP INS ADIPOQ
17 acne 30.1 SHBG LEP INS IGF1
18 leptin deficiency or dysfunction 30.1 SLC2A4 LEP INS IGF1 ALMS1 ADIPOQ
19 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.1 LMNA INS ADIPOQ
20 luteoma 30.0 SHBG FGFR3 FGFR2
21 amenorrhea 30.0 SHBG LEP INS IGF1 ADIPOQ
22 polycystic ovary syndrome 29.9 SLC2A4 SHBG LEP INSR INS IGF1
23 hyperprolactinemia 29.8 SHBG INS IGF1 GH1
24 conn's syndrome 29.8 LEP INS IGF1 GH1 ADIPOQ
25 ovarian disease 29.7 SHBG LEP INSR INS IGF1 ADIPOQ
26 non-alcoholic fatty liver disease 29.7 LEP INSR INS ADIPOQ
27 hypogonadism 29.7 SHBG LEP INS IGF1 GH1
28 strabismus 29.7 SLC2A1 IGF1 FGFR3 FGFR2
29 acromegaly 29.7 SHBG LEP INS IGF1 GH1 ADIPOQ
30 prediabetes syndrome 29.6 SLC2A4 SHBG LEP INSR INS IGF1
31 nutritional deficiency disease 29.6 LEP IGF1 GH1 ADIPOQ
32 vascular disease 29.6 LEP INS IGF1R IGF1 ADIPOQ
33 androgenic alopecia 29.5 SHBG INS IGF1
34 hypogonadotropic hypogonadism 29.5 SHBG LEP INS IGF1
35 adult syndrome 29.4 SLC2A4 LEP INS IGF1 ADIPOQ
36 hypothyroidism 29.4 SHBG LEP INS IGF1 GH1 FNDC5
37 anovulation 29.4 SHBG LEP INS IGF1
38 hyperinsulinism 29.4 TBC1D4 SLC2A4 SLC2A1 SHBG LEP INSR
39 lipoid congenital adrenal hyperplasia 29.3 SHBG LEP INS IGF1
40 hypopituitarism 29.2 SHBG LEP INS IGF1 GH1
41 prader-willi syndrome 29.2 LEP INS IGF1 GH1 FNDC5 ADIPOQ
42 lipid metabolism disorder 29.1 SLC2A4 SHBG LMNA LEP INSR INS
43 cardiovascular system disease 29.1 SHBG LEP INS IGF1 ADIPOQ
44 hypoglycemia 29.1 SLC2A4 SLC2A3 SLC2A1 LEP INSR INS
45 glucose intolerance 29.0 SLC2A4 SHBG LMNA LEP INSR INS
46 hyperglycemia 29.0 SLC2A3 SLC2A1 LEP INSR INS IGF1R
47 dilated cardiomyopathy 28.9 SLC2A4 LMNA INS IGF1 ALMS1 ADIPOQ
48 peripheral nervous system disease 28.9 SLC2A1 LMNA LEP INS IGF1R IGF1
49 insulin-like growth factor i 28.9 SHBG LEP INSR INS IGF1R IGF1
50 endometrial cancer 28.7 SLC2A1 SHBG LEP INS IGF1R IGF1

Graphical network of the top 20 diseases related to Acanthosis Nigricans:



Diseases related to Acanthosis Nigricans
Sources

Symptoms & Phenotypes for Acanthosis Nigricans

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Human phenotypes related to Acanthosis Nigricans:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acanthosis nigricans 30 HP:0000956

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
benign acanthosis nigricans
thick hyperpigmented flexural area skin

Clinical features from OMIM®:

100600 (Updated 08-Dec-2022)

UMLS symptoms related to Acanthosis Nigricans:


pruritus

GenomeRNAi Phenotypes related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.75 FGFR3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.75 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.75 GH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.75 FGFR3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.75 GH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.75 GH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.75 GH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.75 INSR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.75 IGF1R
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.75 GH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.75 INSR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.75 INSR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.75 GH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.75 INSR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.75 INSR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.75 FGFR3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.75 GH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.75 FGFR3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.75 FGFR3 GH1 IGF1R INSR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 FGFR3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.75 FGFR3 IGF1R INSR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.75 GH1

MGI Mouse Phenotypes related to Acanthosis Nigricans:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.53 ADIPOQ ALMS1 BAIAP2L1 ELOVL1 FGFR2 FGFR3
2 growth/size/body region MP:0005378 10.5 ADIPOQ ALMS1 BAIAP2L1 ELOVL1 FGFR2 FGFR3
3 nervous system MP:0003631 10.47 ADIPOQ ALMS1 FGFR2 FGFR3 GH1 IGF1
4 adipose tissue MP:0005375 10.37 ADIPOQ ALMS1 FGFR2 GH1 IGF1 IGF1R
5 liver/biliary system MP:0005370 10.35 ADIPOQ ALMS1 FGFR2 FNDC5 GH1 IGF1R
6 cellular MP:0005384 10.35 ADIPOQ ALMS1 FGFR2 FGFR3 FNDC5 IGF1
7 muscle MP:0005369 10.32 ADIPOQ FGFR2 IGF1 IGF1R INS INSR
8 endocrine/exocrine gland MP:0005379 10.32 ADIPOQ ALMS1 FGFR2 GH1 IGF1 IGF1R
9 renal/urinary system MP:0005367 10.29 ADIPOQ ALMS1 FGFR2 FGFR3 GH1 IGF1
10 cardiovascular system MP:0005385 10.27 ADIPOQ BAIAP2L1 FGFR2 GH1 IGF1 IGF1R
11 behavior/neurological MP:0005386 10.25 ADIPOQ ALMS1 FGFR2 FGFR3 FNDC5 GH1
12 immune system MP:0005387 10.25 ADIPOQ ALMS1 FGFR2 FGFR3 GH1 IGF1
13 neoplasm MP:0002006 10.15 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R LEP
14 limbs/digits/tail MP:0005371 10.11 BAIAP2L1 FGFR2 FGFR3 IGF1 IGF1R LEP
15 digestive/alimentary MP:0005381 10.1 FGFR2 FGFR3 IGF1R INS INSR LEP
16 reproductive system MP:0005389 10.1 ALMS1 FGFR2 FGFR3 GH1 IGF1 IGF1R
17 respiratory system MP:0005388 10.02 ADIPOQ FGFR2 FGFR3 GH1 IGF1 IGF1R
18 hearing/vestibular/ear MP:0005377 10.01 ALMS1 FGFR2 FGFR3 IGF1 IGF1R LMNA
19 skeleton MP:0005390 10 ADIPOQ BAIAP2L1 FGFR2 FGFR3 FNDC5 IGF1
20 hematopoietic system MP:0005397 9.93 ADIPOQ FGFR2 FGFR3 GH1 IGF1 IGF1R
21 mortality/aging MP:0010768 9.89 ADIPOQ BAIAP2L1 ELOVL1 FGFR2 FGFR3 FNDC5
22 integument MP:0010771 9.32 ADIPOQ ELOVL1 FGFR2 FGFR3 IGF1 IGF1R
Sources

Drugs & Therapeutics for Acanthosis Nigricans

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Drugs for Acanthosis Nigricans (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
2
Clomifene Approved, Investigational Phase 2 911-45-5 2800
3
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181
4
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
6
Enclomiphene Investigational Phase 2 15690-57-0 1548953
7 Insulin, Globin Zinc Phase 2
8
Insulin Phase 2
9 Zuclomiphene Phase 2
10 Citrate Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 Hormones Phase 2
13 Hormone Antagonists Phase 2
14 Diuretics, Potassium Sparing Phase 2
15 diuretics Phase 2
16 Mineralocorticoids Phase 2
17 Mineralocorticoid Receptor Antagonists Phase 2
18
Glycolic acid Approved, Investigational 79-14-1 757
19
Metformin Approved 1115-70-4, 657-24-9 4091
20
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
21
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
22 Keratolytic Agents
23 Dermatologic Agents
24 Hypoglycemic Agents
25 Vitamins
26 Vitamin B6
27 Vitamin B Complex
28 Vitamin B 6
29 Calcium, Dietary
30 Antioxidants
31 Protective Agents
32
Calcium Nutraceutical 7440-70-2 271
33
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Double-blind Randomized Trial Using Oral Metformin Versus Placebo in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
2 Insulin Sensitizing Agent (Metformin) Improves Clinical Pregnancy Rate and Insulin Parameters in Polycystic Ovarian Syndrome Patients With Acanthosis Nigricans Completed NCT02562664 Phase 2 CC;Placebo tablets;Metformin
3 Phase II Study of the Effect of Leuprolide Acetate and Spironolactone on Insulin Resistance in Hyperandrogenic Women With Polycystic Ovarian Disease or Hyperandrogenism Insulin Resistance Acanthosis Nigricans Syndrome Completed NCT00004311 Phase 2 leuprolide acetate;spironolactone
4 Use Of A Novel Quantitative Tool For Evaluation of Pseudo- Acanthosis Nigricans: Acanthosis Nigricans Area And Severity Index Unknown status NCT04359485
5 Prevalence of Carbohydrate Intolerance in Lean and Obese Children Unknown status NCT00000112
6 Spectroscopic and Colorimetric Analysis of Acanthosis Nigricans in Patients With Hyperinsulinemia Completed NCT01125150 Metformin
7 Effect of Melatonin on Body Composition, Glucose Metabolism and Lipid Metabolism Completed NCT02604095
8 Children's Healthy Living Program for Remote Underserved Minority Populations in the Pacific Region Completed NCT01881373
9 The Effect of Laparoscopic Sleeve Gastrectomy on Insulin Secretion Pattern in Morbidly Obese Patients With Acanthosis Nigricans Recruiting NCT05529563
10 Sustainable-psycho-nutritional Intervention Program and Its Effects on Water and Carbon Footprint, Metabolic Biomarkers, and Gut Microbiota in Mexican Population: a m-Health Randomized Clinical Trial Recruiting NCT05457439
11 Study of the Effect of Fractional co2 Laser Versus Q Switched:NdYAG Laser in the Treatment of Acanthosis Nigricans Not yet recruiting NCT04893304

Search NIH Clinical Center for Acanthosis Nigricans

Cochrane evidence based reviews: acanthosis nigricans

Sources

Genetic Tests for Acanthosis Nigricans

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Genetic tests related to Acanthosis Nigricans:

# Genetic test Affiliating Genes
1 Acanthosis Nigricans 28
Sources

Anatomical Context for Acanthosis Nigricans

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Organs/tissues related to Acanthosis Nigricans:

MalaCards : Skin, Ovary, Lung, Liver, Cervix, Thyroid, Breast
Sources

Publications for Acanthosis Nigricans

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Articles related to Acanthosis Nigricans:

(show top 50) (show all 2154)
# Title Authors PMID Year
1
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 53 62 5
18000903 2007
2
Familial acanthosis nigricans due to K650T FGFR3 mutation. 53 62 5
17875876 2007
3
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes. 53 62 57
10914675 2000
4
Familial acanthosis nigricans with madarosis. 62 57
7669619 1995
5
Autosomal dominant insulin resistance syndrome due to postbinding defect. 62 57
1282780 1992
6
Familial acanthosis nigricans. 62 57
6486848 1984
7
[Contribution to the clinical picture of benign familial acanthosis nigricans]. 62 57
5826935 1965
8
[Genetic pathology of acanthosis nigricans]. 62 57
13312473 1955
9
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature. 5
31464584 2019
10
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. 53 62
20034074 2010
11
Alterations of carbohydrate and lipoprotein metabolism in childhood obesity--impact of insulin resistance and acanthosis nigricans. 53 62
20333871 2009
12
[Fatty liver disease, insulin resistance and adiponectin in an obese pediatric population]. 53 62
19850541 2009
13
Prevalence of acanthosis nigricans and its correlates in a cross-section of Nigerians with type 2 diabetes mellitus. 53 62
19762579 2009
14
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 53 62
19622626 2009
15
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies. 53 62
19387476 2009
16
Type B insulin resistance in a systemic lupus erythematosus patient. 53 62
20374339 2009
17
Evaluation of insulin resistance in obese women with and without acanthosis nigricans. 53 62
19348659 2009
18
Cardiometabolic risk among African American women: a pilot study. 53 62
19242280 2009
19
Malignant acanthosis nigricans with enhanced expression of fibroblast growth factor receptor 3. 53 62
19688170 2009
20
Paraneoplastic acanthosis nigricans and silent meningioma producing transforming growth factor-alpha. 53 62
19049942 2008
21
Clearance of acanthosis nigricans associated with insulinoma following surgical resection. 53 62
18669553 2008
22
Screening of glucose/insulin metabolic alterations in men with multiple skin tags on the neck. 53 62
18397315 2008
23
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 53 62
18583390 2008
24
Body shape and size and insulin resistance as early clinical predictors of hyperandrogenic anovulation in ethnic minority adolescent girls. 53 62
18639784 2008
25
Prevalence of insulin resistance and its association with metabolic syndrome criteria among Bolivian children and adolescents with obesity. 53 62
18700035 2008
26
Treatment options in insulin resistance obesity-related acanthosis nigricans. 53 62
18492785 2008
27
Insulin receptor autoimmunity and insulin resistance. 53 62
18556968 2008
28
Can adiponectin predict abnormal glucose tolerance in Thai women with polycystic ovary syndrome? 53 62
18226130 2008
29
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 53 62
18041775 2007
30
Crouzon with acanthosis nigricans. Further delineation of the syndrome. 53 62
17935505 2007
31
Is Acanthosis Nigricans a reliable indicator for risk of type 2 diabetes? 53 62
17894521 2007
32
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. 53 62
17561467 2007
33
Current approaches to the diagnosis and treatment of polycystic ovarian syndrome in youth. 53 62
17426408 2007
34
High frequency of FGFR3 mutations in adenoid seborrheic keratoses. 53 62
16778799 2006
35
Influence of skin color on the diagnostic utility of clinical acanthosis nigricans to predict insulin resistance in obese patients. 53 62
16824934 2006
36
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 53 62
16841094 2006
37
Atypical localization of acanthosis nigricans in an obese patient with increased leptin level: is there an association? 53 62
16843127 2006
38
Screening for type 2 diabetes in children with acanthosis nigricans. 53 62
16873592 2006
39
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 53 62
16500676 2006
40
[Metabolic syndrome in childhood and adolescence]. 53 62
16610614 2006
41
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 53 62
16384584 2006
42
Androgen excess disorders in women: the severe insulin-resistant hyperandrogenic syndrome, HAIR-AN. 53 62
16435040 2006
43
Acanthosis Nigricans, insulin resistance (HOMA) and dyslipidemia among Native American children. 53 62
16499154 2006
44
African American women, metabolic syndrome, and national cholesterol education program criteria: a pilot study. 53 62
16224320 2005
45
Clinical presentation of type 2 diabetes mellitus in children and adolescents. 53 62
16385761 2005
46
Insulin resistance and impaired glucose tolerance in obese children and adolescents referred to a tertiary-care center in Israel. 53 62
15889115 2005
47
Type A insulin resistance syndrome revealing a novel lamin A mutation. 53 62
15919811 2005
48
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 53 62
15772091 2005
49
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report. 53 62
16052863 2005
50
Prevalence and characteristics of the metabolic syndrome in women with polycystic ovary syndrome. 53 62
15623819 2005
Sources

Variations for Acanthosis Nigricans

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ClinVar genetic disease variations for Acanthosis Nigricans:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC29A3 NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) SNV Association
 130341 rs780668 GRCh37: 10:73111408-73111408
GRCh38: 10:71351651-71351651
2 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic
 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
3 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic
 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
4 FGFR3 NM_000142.5(FGFR3):c.1943A>C (p.Tyr648Ser) SNV Likely Pathogenic
 376699 rs587779383 GRCh37: 4:1807884-1807884
GRCh38: 4:1806157-1806157
5 FGFR3 NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV Likely Pathogenic
 16348 rs78311289 GRCh37: 4:1807889-1807889
GRCh38: 4:1806162-1806162
Sources

Expression for Acanthosis Nigricans

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Search GEO for disease gene expression data for Acanthosis Nigricans.
Sources

Pathways for Acanthosis Nigricans

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Pathways related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 13.38 FGFR2 FGFR3 GH1 IGF1 IGF1R INSR
2
PAK Pathway 64
Show member pathways
 13.27 SLC2A4 SLC2A3 SLC2A1 IGF1R IGF1 GH1
3
p70S6K Signaling 64
Show member pathways
 13 INSR INS IGF1R IGF1 GH1 FGFR3
4
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.86 SLC2A4 INSR IGF1R IGF1 FGFR3 FGFR2
5
IL-9 Signaling Pathways 65
Show member pathways
 12.83 SLC2A4 LEP INSR INS ADIPOQ
6
Signaling by Receptor Tyrosine Kinases 66
12.82 INSR INS IGF1R IGF1 FGFR3 FGFR2
7
Translation Insulin regulation of translation 22
Show member pathways
 12.69 GH1 IGF1 IGF1R INS INSR SLC2A4
8
Insulin receptor signalling cascade 66
Show member pathways
 12.65 INSR INS IGF1R IGF1 FGFR3 FGFR2
9
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.6 IGF1R IGF1 GH1 FGFR3 FGFR2
10
Malignant pleural mesothelioma 74
12.56 SLC2A1 INSR INS IGF1R IGF1 FGFR3
11
Angiopoietin-like protein 8 regulatory pathway 74
Show member pathways
 12.51 IGF1R INSR SLC2A1 SLC2A4 TBC1D4
12
PI3K-Akt signaling pathway 74
Show member pathways
 12.46 SLC2A4 SLC2A3 SLC2A1 INSR INS IGF1R
13
Breast cancer pathway 74
Show member pathways
 12.43 IGF1R IGF1 FGFR3 FGFR2
14
NF-kappaB Pathway 70
Show member pathways
 12.4 INSR IGF1R FGFR3 FGFR2
15
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.37 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
16
Glucose / Energy Metabolism 3
12.29 ADIPOQ IGF1R INS INSR SLC2A1 SLC2A4
17
Ras signaling 74
12.23 INSR IGF1R FGFR3 FGFR2
18
MAPK Signaling: Mitogens 65
Show member pathways
 12.21 LMNA INSR IGF1R FGFR3 FGFR2
19
Peptide hormone metabolism 66
Show member pathways
 12.2 LEP INS IGF1 GH1
20
Tyrosine Kinases / Adaptors 3
12.13 INSR IGF1R FGFR3 FGFR2
21
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.13 SLC2A4 SLC2A1 LEP INSR INS
22
Neuroinflammation and glutamatergic signaling 74
12.1 SLC2A3 SLC2A1 INSR IGF1
23
mTOR Signaling 65
12.09 INSR IGF1R FGFR3 FGFR2
24
Endochondral ossification 74
Show member pathways
 12.04 IGF1R IGF1 GH1 FGFR3
25
AMP-activated protein kinase signaling 74
Show member pathways
 12.03 ADIPOQ INS INSR LEP SLC2A4
26
Senescence and autophagy in cancer 74
11.9 INS IGF1R IGF1
27
Overlap between signal transduction pathways contributing to LMNA laminopathies 74
Show member pathways
 11.84 SLC2A4 LMNA ADIPOQ
28
Hippo-Merlin signaling dysregulation 74
Show member pathways
 11.83 INSR IGF1R FGFR3 FGFR2
29
Neural Stem Cells and Lineage-specific Markers 65
11.76 SLC2A1 IGF1 FGFR3
30
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.74 SLC2A4 LEP INS IGF1 ADIPOQ
31
Head and neck squamous cell carcinoma 74
11.72 IGF1R FGFR3 FGFR2
32
HIF-1-alpha transcription factor network 61
11.67 SLC2A3 SLC2A1 LEP
33
G-protein signaling_RhoA regulation pathway 22
11.66 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
34
SHP2 signaling 61
11.58 IGF1R FGFR3 FGFR2
35
HIF1Alpha Pathway 64
11.58 SLC2A4 SLC2A3 SLC2A1
36
Signaling events mediated by PTP1B 61
11.5 INS INSR LEP
37
Nonalcoholic fatty liver disease 74
11.42 LEP INSR INS ADIPOQ
38
Alzheimers Disease Pathway 64
11.39 INSR IGF1R FGFR3 FGFR2
39
Adipogenesis 74
11.28 SLC2A4 LMNA LEP INS IGF1 GH1
40
Leptin-insulin signaling overlap 74
Show member pathways
 11.24 LEP INSR INS
41
Cellular hexose transport 66
Show member pathways
 11.14 SLC2A1 SLC2A3 SLC2A4
42
Type II diabetes mellitus 74
11.11 SLC2A4 INSR ADIPOQ
43
Roles of ceramides in the development of insulin resistance 74
11.1 SLC2A4 INSR INS
44
G-protein signaling_Rap2B regulation pathway 22
11.01 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
45
Transcription factor regulation in adipogenesis 74
10.97 SLC2A4 LEP INSR ADIPOQ
46
Insulin signaling in adipocytes (diabetic condition) 74
Show member pathways
 10.94 TBC1D4 SLC2A4 INSR
47
Cori cycle 74
10.93 SLC2A4 SLC2A1 INS
48
Insulin-mediated glucose transport 61
10.74 TBC1D4 SLC2A4 INSR INS
Sources

GO Terms for Acanthosis Nigricans

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Cellular components related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 FGFR2 FGFR3 IGF1R INSR SLC2A1 SLC2A3
2 plasma membrane GO:0005887 10.18 FGFR2 FGFR3 IGF1R INSR SLC2A1 SLC2A3
3 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.26 IGF1R IGF1
4 insulin receptor complex GO:0005899 8.92 IGF1R INSR

Biological processes related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.37 FGFR2 FGFR3 IGF1 IGF1R INS INSR
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.24 FGFR3 FGFR2 INSR IGF1R
3 positive regulation of cold-induced thermogenesis GO:0120162 10.2 ADIPOQ ALMS1 IGF1R LEP
4 peptidyl-tyrosine phosphorylation GO:0018108 10.19 FGFR2 FGFR3 IGF1R INSR
5 transport across blood-brain barrier GO:0150104 10.18 SLC2A4 SLC2A3 SLC2A1 INSR
6 positive regulation of smooth muscle cell proliferation GO:0048661 10.14 IGF1R IGF1 FGFR2
7 positive regulation of kinase activity GO:0033674 10.14 FGFR2 FGFR3 IGF1R INSR
8 positive regulation of protein kinase B signaling GO:0051897 10.13 LEP INSR INS IGF1R IGF1
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 10.11 FGFR3 GH1 IGF1 LEP
10 activation of protein kinase B activity GO:0032148 10.09 IGF1 INS INSR
11 positive regulation of mitotic nuclear division GO:0045840 10.08 INSR INS IGF1
12 response to ethanol GO:0045471 10.07 FGFR2 ADIPOQ IGF1R LEP SLC2A4
13 glucose transmembrane transport GO:1904659 10.06 SLC2A4 SLC2A3 SLC2A1
14 glucose homeostasis GO:0042593 10.03 SLC2A4 LEP INSR INS IGF1R ADIPOQ
15 positive regulation of glycolytic process GO:0045821 10.02 IGF1 INS INSR
16 dehydroascorbic acid transport GO:0070837 9.97 SLC2A3 SLC2A1
17 positive regulation of phospholipase activity GO:0010518 9.96 FGFR3 FGFR2
18 L-ascorbic acid metabolic process GO:0019852 9.96 SLC2A1 SLC2A3
19 positive regulation of respiratory burst GO:0060267 9.95 INS INSR
20 positive regulation of glycogen biosynthetic process GO:0045725 9.95 IGF1 INS INSR
21 bone mineralization involved in bone maturation GO:0035630 9.94 IGF1 LEP
22 glucose import across plasma membrane GO:0098708 9.93 SLC2A3 SLC2A1
23 positive regulation of protein-containing complex disassembly GO:0043243 9.93 INSR IGF1R
24 glucose import GO:0046323 9.93 SLC2A1 SLC2A3 SLC2A4
25 positive regulation of developmental growth GO:0048639 9.92 LEP INSR
26 positive regulation of glucose import GO:0046326 9.92 INSR INS IGF1 ADIPOQ
27 cellular response to insulin stimulus GO:0032869 9.9 IGF1R ADIPOQ TBC1D4 SLC2A4 LEP INSR
28 bone maturation GO:0070977 9.89 FGFR3 GH1
29 response to nutrient levels GO:0031667 9.89 LEP IGF1R GH1 ADIPOQ
30 monosaccharide transmembrane transport GO:0015749 9.88 SLC2A1 SLC2A3 SLC2A4
31 regulation of protein localization to nucleus GO:1900180 9.85 LMNA LEP
32 multicellular organism development GO:0007275 9.83 FGFR2 FGFR3 IGF1R INSR
33 positive regulation of MAPK cascade GO:0043410 9.8 FGFR2 FGFR3 IGF1 IGF1R INS INSR
34 carbohydrate transport GO:0008643 9.79 SLC2A4 SLC2A3 SLC2A1
35 cellular response to endogenous stimulus GO:0071495 9.57 FGFR3 FGFR2
36 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.4 INS INSR LEP IGF1R IGF1 GH1

Molecular functions related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 10.06 INSR IGF1R FGFR3 FGFR2
2 insulin receptor binding GO:0005158 9.88 INS IGF1R IGF1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.86 INSR IGF1R FGFR3 FGFR2
4 glucose transmembrane transporter activity GO:0005355 9.85 SLC2A4 SLC2A3 SLC2A1
5 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.81 SLC2A3 SLC2A1
6 insulin binding GO:0043559 9.8 INSR IGF1R
7 insulin-like growth factor receptor binding GO:0005159 9.8 IGF1 INS INSR
8 fibroblast growth factor receptor activity GO:0005007 9.78 FGFR3 FGFR2
9 insulin receptor activity GO:0005009 9.73 INSR IGF1R
10 D-glucose transmembrane transporter activity GO:0055056 9.63 SLC2A4 SLC2A3 SLC2A1
11 hexose transmembrane transporter activity GO:0015149 9.43 SLC2A4 SLC2A3 SLC2A1
12 hormone activity GO:0005179 9.4 LEP INS IGF1 GH1 FNDC5 ADIPOQ
Sources

Sources for Acanthosis Nigricans

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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