AN
MCID: ACN002
MIFTS: 56

Acanthosis Nigricans (AN)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Acanthosis Nigricans

MalaCards integrated aliases for Acanthosis Nigricans:

Name: Acanthosis Nigricans 57 12 73 20 29 54 6 44 15 17 70 32
an - Acanthosis Nigricans 12
Keratosis Nigricans 12
an 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
acanthosis nigricans:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3138
OMIM® 57 100600
MeSH 44 D000052
NCIt 50 C26687
SNOMED-CT 67 72129000
ICD10 32 L83
MedGen 41 C0000889
SNOMED-CT via HPO 68 263681008 402599005
UMLS 70 C0000889

Summaries for Acanthosis Nigricans

GARD : 20 Acanthosis nigricans (AN) is a skin disorder in which there is darker, thick, velvety skin in body folds and creases. This condition usually appears slowly and doesn't cause any symptoms other than skin changes. Eventually, dark, velvety skin with very visible markings and creases appears in the armpits, groin and neck folds, and over the joints of the fingers and toes. Less commonly, the lips, palms, soles of the feet, or other areas may be affected. The exact cause of this condition is not well understood; but it can be inherited or related to medical problems such as obesity, diabetes mellitus (insulin- resistance), some prescription drugs, and cancer.

MalaCards based summary : Acanthosis Nigricans, also known as an - acanthosis nigricans, is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and acquired generalized lipodystrophy, 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 PEDF Induced Signaling and TGF-Beta Pathway. The drugs Spironolactone and Leuprolide have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and pituitary, and related phenotypes are acanthosis nigricans and growth/size/body region

Wikipedia : 73 Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety... more...

More information from OMIM: 100600

Related Diseases for Acanthosis Nigricans

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

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 32.4 INSR INS IGF1
2 acquired generalized lipodystrophy 32.0 LMNA LEP ADIPOQ
3 familial partial lipodystrophy 31.8 PPARG LMNA LEP INS ADIPOQ
4 donohue syndrome 31.4 INSR INS IGF1R IGF1 BAIAP2L1
5 lipodystrophy, familial partial, type 2 31.4 SLC2A4 PPARG LMNA LEP INS ADIPOQ
6 congenital generalized lipodystrophy 31.3 SLC2A4 PPARG LMNA LEP INSR INS
7 achondroplasia 31.0 IGF1 FGFR3 FGFR2
8 fgfr craniosynostosis syndromes 30.8 FGFR3 FGFR2
9 osteochondrodysplasia 30.7 PRMT7 IGF1 FGFR3 FGFR2
10 syndromic craniosynostosis 30.7 FGFR3 FGFR2
11 hyperuricemia 30.6 PPARG LEP INS
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.5 PPARG LMNA LEP INS ADIPOQ
13 skin disease 30.3 PPARG LMNA INS FGFR3 FGFR2
14 pituitary tumors 30.3 PRL IGF1 GH1
15 hydrocephalus 30.2 PRL IGF1 FGFR3 FGFR2
16 pfeiffer syndrome 30.2 LMNA FGFR3 FGFR2
17 fasting hypoglycemia 30.1 INSR IGF1
18 skin tag 30.1 SHBG LEP INS IGF1 FGFR2
19 hypoglycemia 30.0 PRL INSR INS IGF1 GH1
20 atherosclerosis susceptibility 30.0 PPARG LEP INS ADIPOQ
21 hyperandrogenism 30.0 SHBG PRL PPARG INSR INS IGF1
22 pituitary adenoma 1, multiple types 29.9 PRL IGF1 GH1
23 fibrous dysplasia 29.9 PRL IGF1 GH1
24 amenorrhea 29.9 SHBG PRL LEP INS IGF1
25 luteoma 29.9 SHBG FGFR3 FGFR2
26 acne 29.9 SHBG PRL INS IGF1 FGFR2
27 vascular disease 29.8 PPARG LEP INS IGF1 ADIPOQ
28 lipid metabolism disorder 29.7 SHBG PPARG LMNA LEP INSR INS
29 alopecia 29.7 SHBG PRL LMNA IGF1
30 fatty liver disease 29.7 PRMT7 PPARG LEP INSR INS ADIPOQ
31 hypogonadotropic hypogonadism 29.6 SHBG PRL LEP INS
32 gynecomastia 29.6 SHBG PRL LEP
33 hypogonadism 29.6 SHBG PRL LEP INS IGF1
34 hyperglycemia 29.5 PPARG LEP INSR INS IGF1R IGF1
35 hyperprolactinemia 29.5 SHBG PRL INS IGF1 GH1
36 non-alcoholic steatohepatitis 29.5 SLC2A4 PPARG INS IGF1 ADIPOQ
37 type 1 diabetes mellitus 29.4 LEP INSR INS IGF1 GH1 ADIPOQ
38 leptin deficiency or dysfunction 29.4 SLC2A4 PPARG LEP INS IGF1 ALMS1
39 androgenic alopecia 29.3 SHBG PRL INS IGF1
40 polycystic ovary syndrome 29.3 SHBG PRL PPARG LEP INSR INS
41 gestational diabetes 29.3 SLC2A4 SHBG PPARG LEP INSR INS
42 liver cirrhosis 29.3 SLC2A4 PPARG LEP INSR INS IGF1
43 congenital hypothyroidism 29.2 SHBG PRL IGF1 GH1
44 prader-willi syndrome 29.2 PRL LEP INS IGF1 GH1 ADIPOQ
45 acromegaly 29.2 SHBG PRL LEP INS IGF1 GH1
46 hypothyroidism 29.1 SHBG PRL LEP INS IGF1 GH1
47 anovulation 29.1 SHBG PRL LEP INS IGF1
48 endometrial cancer 29.0 SHBG PPARG INS IGF1R IGF1 FGFR2
49 hyperinsulinism 29.0 TBC1D4 SLC2A4 SHBG PPARG LEP INSR
50 non-alcoholic fatty liver disease 28.8 SLC2A4 PRMT7 PPARG LEP INSR INS

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



Diseases related to Acanthosis Nigricans

Symptoms & Phenotypes for Acanthosis Nigricans

Human phenotypes related to Acanthosis Nigricans:

31
# Description HPO Frequency HPO Source Accession
1 acanthosis nigricans 31 HP:0000956

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
benign acanthosis nigricans
thick hyperpigmented flexural area skin

Clinical features from OMIM®:

100600 (Updated 20-May-2021)

UMLS symptoms related to Acanthosis Nigricans:


pruritus

MGI Mouse Phenotypes related to Acanthosis Nigricans:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 ADIPOQ ALMS1 BAIAP2L1 ELOVL1 FGFR2 FGFR3
2 homeostasis/metabolism MP:0005376 10.45 ADIPOQ ALMS1 BAIAP2L1 ELOVL1 FGFR2 FGFR3
3 cellular MP:0005384 10.43 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
4 adipose tissue MP:0005375 10.42 ADIPOQ ALMS1 FGFR2 IGF1 IGF1R INS
5 endocrine/exocrine gland MP:0005379 10.41 ADIPOQ ALMS1 FGFR2 IGF1 IGF1R INS
6 cardiovascular system MP:0005385 10.4 ADIPOQ BAIAP2L1 FGFR2 IGF1 IGF1R INS
7 immune system MP:0005387 10.39 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
8 behavior/neurological MP:0005386 10.38 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
9 hematopoietic system MP:0005397 10.35 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
10 mortality/aging MP:0010768 10.28 ADIPOQ BAIAP2L1 ELOVL1 FGFR2 FGFR3 IGF1
11 integument MP:0010771 10.27 ADIPOQ ELOVL1 FGFR2 FGFR3 IGF1 IGF1R
12 liver/biliary system MP:0005370 10.23 ADIPOQ ALMS1 FGFR2 IGF1R INS INSR
13 digestive/alimentary MP:0005381 10.18 FGFR2 FGFR3 IGF1R INS INSR LEP
14 muscle MP:0005369 10.18 ADIPOQ FGFR2 IGF1 IGF1R INS INSR
15 nervous system MP:0003631 10.17 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
16 hearing/vestibular/ear MP:0005377 10.09 ALMS1 FGFR2 FGFR3 IGF1 IGF1R LMNA
17 limbs/digits/tail MP:0005371 10.02 BAIAP2L1 FGFR2 FGFR3 IGF1 IGF1R LEP
18 neoplasm MP:0002006 10.02 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R LEP
19 renal/urinary system MP:0005367 9.96 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 INS
20 reproductive system MP:0005389 9.93 ALMS1 FGFR2 FGFR3 IGF1 IGF1R INS
21 respiratory system MP:0005388 9.56 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INSR
22 skeleton MP:0005390 9.4 ADIPOQ BAIAP2L1 FGFR2 FGFR3 IGF1 IGF1R

Drugs & Therapeutics for Acanthosis Nigricans

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
2
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
3
Sodium citrate Approved, Investigational Phase 2 68-04-2
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
5
Enclomiphene Investigational Phase 2 15690-57-0
6 Mineralocorticoid Receptor Antagonists Phase 2
7 insulin Phase 2
8 Diuretics, Potassium Sparing Phase 2
9 Hormones Phase 2
10 Mineralocorticoids Phase 2
11 Hormone Antagonists Phase 2
12 Insulin, Globin Zinc Phase 2
13 diuretics Phase 2
14 Antineoplastic Agents, Hormonal Phase 2
15 Citrate Phase 2
16 Clomiphene Phase 2
17 Zuclomiphene Phase 2
18
Metformin Approved 657-24-9 14219 4091
19
Glycolic acid Approved, Investigational 79-14-1 757
20
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
21
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
22 Hypoglycemic Agents
23 Vitamin B 6
24 Vitamin B Complex
25 Antioxidants
26 Protective Agents
27 Vitamins
28 Calcium, Dietary
29 Dermatologic Agents
30 Keratolytic Agents
31
Pyridoxal Experimental, Nutraceutical 66-72-8 1050
32
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# 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 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
3 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
4 Prevalence of Carbohydrate Intolerance in Lean and Obese Children Unknown status NCT00000112
5 Spectroscopic and Colorimetric Analysis of Acanthosis Nigricans in Patients With Hyperinsulinemia Completed NCT01125150 Metformin
6 Effect of Melatonin on Body Composition, Glucose Metabolism and Lipid Metabolism Completed NCT02604095
7 Children's Healthy Living Program for Remote Underserved Minority Populations in the Pacific Region Completed NCT01881373
8 Use Of A Novel Quantitative Tool For Evaluation of Pseudo- Acanthosis Nigricans: Acanthosis Nigricans Area And Severity Index Active, not recruiting NCT04359485

Search NIH Clinical Center for Acanthosis Nigricans

Cochrane evidence based reviews: acanthosis nigricans

Genetic Tests for Acanthosis Nigricans

Genetic tests related to Acanthosis Nigricans:

# Genetic test Affiliating Genes
1 Acanthosis Nigricans 29

Anatomical Context for Acanthosis Nigricans

MalaCards organs/tissues related to Acanthosis Nigricans:

40
Skin, Ovary, Pituitary, Lung, Liver, Thyroid, Breast

Publications for Acanthosis Nigricans

Articles related to Acanthosis Nigricans:

(show top 50) (show all 2033)
# Title Authors PMID Year
1
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 6 54 61
18000903 2007
2
Familial acanthosis nigricans due to K650T FGFR3 mutation. 61 6 54
17875876 2007
3
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes. 57 61 54
10914675 2000
4
Familial acanthosis nigricans with madarosis. 57 61
7669619 1995
5
Autosomal dominant insulin resistance syndrome due to postbinding defect. 61 57
1282780 1992
6
Familial acanthosis nigricans. 57 61
6486848 1984
7
[Contribution to the clinical picture of benign familial acanthosis nigricans]. 57 61
5826935 1965
8
[Genetic pathology of acanthosis nigricans]. 57 61
13312473 1955
9
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. 61 54
20034074 2010
10
Alterations of carbohydrate and lipoprotein metabolism in childhood obesity--impact of insulin resistance and acanthosis nigricans. 54 61
20333871 2009
11
[Fatty liver disease, insulin resistance and adiponectin in an obese pediatric population]. 61 54
19850541 2009
12
Prevalence of acanthosis nigricans and its correlates in a cross-section of Nigerians with type 2 diabetes mellitus. 61 54
19762579 2009
13
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 61 54
19622626 2009
14
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies. 61 54
19387476 2009
15
Type B insulin resistance in a systemic lupus erythematosus patient. 61 54
20374339 2009
16
Evaluation of insulin resistance in obese women with and without acanthosis nigricans. 54 61
19348659 2009
17
Cardiometabolic risk among African American women: a pilot study. 61 54
19242280 2009
18
Malignant acanthosis nigricans with enhanced expression of fibroblast growth factor receptor 3. 54 61
19688170 2009
19
Paraneoplastic acanthosis nigricans and silent meningioma producing transforming growth factor-alpha. 61 54
19049942 2008
20
Clearance of acanthosis nigricans associated with insulinoma following surgical resection. 61 54
18669553 2008
21
Screening of glucose/insulin metabolic alterations in men with multiple skin tags on the neck. 54 61
18397315 2008
22
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 54 61
18583390 2008
23
Prevalence of insulin resistance and its association with metabolic syndrome criteria among Bolivian children and adolescents with obesity. 61 54
18700035 2008
24
Body shape and size and insulin resistance as early clinical predictors of hyperandrogenic anovulation in ethnic minority adolescent girls. 61 54
18639784 2008
25
Treatment options in insulin resistance obesity-related acanthosis nigricans. 61 54
18492785 2008
26
Insulin receptor autoimmunity and insulin resistance. 61 54
18556968 2008
27
Can adiponectin predict abnormal glucose tolerance in Thai women with polycystic ovary syndrome? 61 54
18226130 2008
28
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 61 54
18041775 2007
29
Crouzon with acanthosis nigricans. Further delineation of the syndrome. 54 61
17935505 2007
30
Is Acanthosis Nigricans a reliable indicator for risk of type 2 diabetes? 54 61
17894521 2007
31
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. 61 54
17561467 2007
32
Current approaches to the diagnosis and treatment of polycystic ovarian syndrome in youth. 54 61
17426408 2007
33
High frequency of FGFR3 mutations in adenoid seborrheic keratoses. 54 61
16778799 2006
34
Influence of skin color on the diagnostic utility of clinical acanthosis nigricans to predict insulin resistance in obese patients. 61 54
16824934 2006
35
Atypical localization of acanthosis nigricans in an obese patient with increased leptin level: is there an association? 61 54
16843127 2006
36
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 54 61
16841094 2006
37
Screening for type 2 diabetes in children with acanthosis nigricans. 61 54
16873592 2006
38
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 61 54
16500676 2006
39
[Metabolic syndrome in childhood and adolescence]. 54 61
16610614 2006
40
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 61 54
16384584 2006
41
Acanthosis Nigricans, insulin resistance (HOMA) and dyslipidemia among Native American children. 54 61
16499154 2006
42
Androgen excess disorders in women: the severe insulin-resistant hyperandrogenic syndrome, HAIR-AN. 61 54
16435040 2006
43
Clinical presentation of type 2 diabetes mellitus in children and adolescents. 54 61
16385761 2005
44
African American women, metabolic syndrome, and national cholesterol education program criteria: a pilot study. 61 54
16224320 2005
45
Type A insulin resistance syndrome revealing a novel lamin A mutation. 54 61
15919811 2005
46
Insulin resistance and impaired glucose tolerance in obese children and adolescents referred to a tertiary-care center in Israel. 54 61
15889115 2005
47
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 54 61
15772091 2005
48
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report. 61 54
16052863 2005
49
Prevalence and characteristics of the metabolic syndrome in women with polycystic ovary syndrome. 54 61
15623819 2005
50
Insulin resistance in obese adolescents. 61 54
16302580 2005

Variations for Acanthosis Nigricans

ClinVar genetic disease variations for Acanthosis Nigricans:

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

Expression for Acanthosis Nigricans

Search GEO for disease gene expression data for Acanthosis Nigricans.

Pathways for Acanthosis Nigricans

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

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SLC2A4 PRL LEP INSR INS IGF1R
2
Show member pathways
13.52 PRL INSR INS IGF1R IGF1 GH1
3
Show member pathways
13.39 SLC2A4 INSR IGF1R IGF1 GH1 FGFR3
4
Show member pathways
13.37 TBC1D4 SLC2A4 PPARG LEP INSR INS
5
Show member pathways
13.02 INSR INS IGF1R IGF1 GH1 FGFR3
6
Show member pathways
12.88 SLC2A4 PPARG LEP ELOVL1 ADIPOQ
7
Show member pathways
12.87 PRL INSR INS IGF1R IGF1 GH1
8
Show member pathways
12.86 SLC2A4 INSR IGF1R IGF1 FGFR3 FGFR2
9
Show member pathways
12.84 SLC2A4 INSR INS IGF1R IGF1 GH1
10 12.82 PPARG IGF1R IGF1 FGFR3 FGFR2
11
Show member pathways
12.79 SLC2A4 PRL IGF1R IGF1 GH1
12
Show member pathways
12.78 PPARG INS IGF1R IGF1 FGFR2
13
Show member pathways
12.76 SLC2A4 LEP INSR INS ADIPOQ
14 12.75 INSR INS IGF1R IGF1 FGFR3 FGFR2
15
Show member pathways
12.71 INSR INS IGF1R IGF1 FGFR3 FGFR2
16
Show member pathways
12.52 TBC1D4 SLC2A4 INSR INS IGF1R
17
Show member pathways
12.47 IGF1R IGF1 FGFR3 FGFR2
18
Show member pathways
12.46 PRL LEP INS GH1
19
Show member pathways
12.44 INSR INS IGF1R IGF1 FGFR3 FGFR2
20
Show member pathways
12.42 INSR IGF1R FGFR3 FGFR2
21 12.4 TBC1D4 SLC2A4 PPARG INSR INS IGF1R
22
Show member pathways
12.39 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
23
Show member pathways
12.3 PPARG INSR IGF1R IGF1
24
Show member pathways
12.27 IGF1R IGF1 GH1 FGFR3 FGFR2
25
Show member pathways
12.23 LEP INS IGF1 GH1
26
Show member pathways
12.22 SLC2A4 PPARG LEP INSR INS IGF1R
27
Show member pathways
12.2 SLC2A4 LEP INSR INS
28
Show member pathways
12.2 TBC1D4 LMNA INSR IGF1R FGFR3 FGFR2
29 12.13 INSR IGF1R FGFR3 FGFR2
30 12.11 IGF1R IGF1 FGFR3 FGFR2
31
Show member pathways
12.01 SLC2A4 INSR INS IGF1R IGF1
32
Show member pathways
11.98 PPARG INSR INS IGF1R IGF1 ADIPOQ
33
Show member pathways
11.97 TBC1D4 SLC2A4 INSR INS
34 11.96 INSR INS IGF1R IGF1
35 11.91 INS IGF1R IGF1
36
Show member pathways
11.88 SLC2A4 INSR INS ADIPOQ
37 11.71 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
38 11.71 SLC2A4 PPARG LEP INS IGF1 ADIPOQ
39 11.69 SLC2A4 LEP ADIPOQ
40 11.67 IGF1R IGF1 GH1 FGFR3
41 11.53 INSR INS IGF1R IGF1
42 11.51 PRL LEP INSR INS
43 11.41 INSR IGF1R FGFR3 FGFR2
44 11.39 INSR INS IGF1
45 11.35 SLC2A4 PPARG LMNA LEP INS IGF1
46 11.19 PPARG LEP ADIPOQ
47 11.17 TBC1D4 SLC2A4 INSR INS
48 11.05 PRL LEP INS
49 11.02 INSR IGF1R IGF1 GH1 FGFR3 FGFR2
50
Show member pathways
10.95 TBC1D4 SLC2A4 INSR

GO Terms for Acanthosis Nigricans

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 SHBG PRL LEP INS IGF1 GH1
2 receptor complex GO:0043235 9.35 PPARG INSR IGF1R FGFR3 FGFR2
3 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.26 IGF1R IGF1
4 insulin receptor complex GO:0005899 9.16 INSR IGF1R
5 endosome lumen GO:0031904 8.8 PRL INS GH1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.29 ADIPOQ GH1 IGF1 IGF1R INS LEP
2 positive regulation of cell migration GO:0030335 9.97 INSR INS IGF1R IGF1
3 protein autophosphorylation GO:0046777 9.92 FGFR2 FGFR3 IGF1R INSR
4 positive regulation of cell proliferation GO:0008284 9.92 PRL LEP INSR INS IGF1R IGF1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.89 FGFR2 FGFR3 IGF1R INSR
6 wound healing GO:0042060 9.87 INS IGF1 FGFR2
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.87 FGFR2 FGFR3 IGF1R INSR
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.86 IGF1 GH1 ADIPOQ
9 insulin receptor signaling pathway GO:0008286 9.85 INSR INS IGF1R
10 response to ethanol GO:0045471 9.85 ADIPOQ FGFR2 LEP SLC2A4
11 positive regulation of protein kinase B signaling GO:0051897 9.85 LEP INSR INS IGF1R FGFR3 FGFR2
12 response to nutrient GO:0007584 9.84 ADIPOQ LEP PPARG
13 cellular response to retinoic acid GO:0071300 9.81 FGFR2 LEP PPARG
14 glucose metabolic process GO:0006006 9.81 LEP INS ADIPOQ
15 positive regulation of cold-induced thermogenesis GO:0120162 9.81 ADIPOQ ALMS1 IGF1R LEP
16 response to nutrient levels GO:0031667 9.8 PRL LEP GH1 ADIPOQ
17 positive regulation of kinase activity GO:0033674 9.78 INSR IGF1R FGFR3 FGFR2
18 activation of protein kinase B activity GO:0032148 9.76 IGF1 INS INSR
19 positive regulation of JAK-STAT cascade GO:0046427 9.73 PRL LEP GH1
20 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 LEP IGF1 GH1 FGFR3
21 cellular response to insulin stimulus GO:0032869 9.73 TBC1D4 SLC2A4 PPARG LEP INSR ADIPOQ
22 positive regulation of mitotic nuclear division GO:0045840 9.71 INSR INS IGF1
23 positive regulation of glucose import GO:0046326 9.71 INSR INS IGF1 ADIPOQ
24 positive regulation of glycolytic process GO:0045821 9.7 IGF1 INS INSR
25 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.69 PRL GH1
26 insulin-like growth factor receptor signaling pathway GO:0048009 9.69 IGF1 IGF1R
27 amyloid-beta clearance GO:0097242 9.68 IGF1R INSR
28 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.68 IGF1 GH1
29 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.68 PPARG ADIPOQ
30 dendritic spine maintenance GO:0097062 9.66 IGF1R INSR
31 neuron projection maintenance GO:1990535 9.66 INS INSR
32 endochondral bone growth GO:0003416 9.65 FGFR2 FGFR3
33 regulation of protein localization to nucleus GO:1900180 9.65 LEP LMNA
34 positive regulation of phospholipase activity GO:0010518 9.65 FGFR3 FGFR2
35 negative regulation of acute inflammatory response GO:0002674 9.64 INS PPARG
36 positive regulation of respiratory burst GO:0060267 9.63 INSR INS
37 positive regulation of glycogen biosynthetic process GO:0045725 9.63 INSR INS IGF1
38 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 LEP INSR INS IGF1R IGF1 GH1
39 bone mineralization involved in bone maturation GO:0035630 9.62 IGF1 LEP
40 positive regulation of fatty acid metabolic process GO:0045923 9.61 ADIPOQ PPARG
41 positive regulation of developmental growth GO:0048639 9.61 INSR LEP
42 positive regulation of protein complex disassembly GO:0043243 9.6 INSR IGF1R
43 bone maturation GO:0070977 9.58 GH1 FGFR3
44 positive regulation of MAPK cascade GO:0043410 9.5 LEP INSR INS IGF1R IGF1 FGFR3
45 glucose homeostasis GO:0042593 9.17 SLC2A4 PPARG LEP INSR INS IGF1R

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 TBC1D4 SLC2A4 SHBG PRMT7 PRL PPARG
2 identical protein binding GO:0042802 10.1 PPARG LMNA INSR INS IGF1R FGFR3
3 protein tyrosine kinase activity GO:0004713 9.67 INSR IGF1R FGFR3 FGFR2
4 insulin-like growth factor I binding GO:0031994 9.52 INSR IGF1R
5 insulin receptor substrate binding GO:0043560 9.51 INSR IGF1R
6 insulin binding GO:0043559 9.48 INSR IGF1R
7 fibroblast growth factor-activated receptor activity GO:0005007 9.46 FGFR3 FGFR2
8 insulin receptor binding GO:0005158 9.43 INS IGF1R IGF1
9 insulin-activated receptor activity GO:0005009 9.4 INSR IGF1R
10 insulin-like growth factor receptor binding GO:0005159 9.33 INSR INS IGF1
11 prolactin receptor binding GO:0005148 9.32 PRL GH1
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 INSR IGF1R FGFR3 FGFR2
13 hormone activity GO:0005179 9.1 PRL LEP INS IGF1 GH1 ADIPOQ

Sources for Acanthosis Nigricans

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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