AN
MCID: ACN002
MIFTS: 62

Acanthosis Nigricans (AN)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Acanthosis Nigricans

MalaCards integrated aliases for Acanthosis Nigricans:

Name: Acanthosis Nigricans 57 12 75 53 29 55 6 44 15 17 72 33
an - Acanthosis Nigricans 12
Keratosis Nigricans 12
an 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 68 72129000
ICD10 33 L83
MedGen 42 C0000889
UMLS 72 C0000889

Summaries for Acanthosis Nigricans

NIH Rare Diseases : 53 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 beare-stevenson cutis gyrata syndrome and pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, and has symptoms including pruritus An important gene associated with Acanthosis Nigricans is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Rosiglitazone and Metformin have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and lung, and related phenotypes are acanthosis nigricans and Decreased viability

Wikipedia : 75 Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is... 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 13103)
# Related Disease Score Top Affiliating Genes
1 beare-stevenson cutis gyrata syndrome 34.5 FGFR3 FGFR2
2 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 33.3 INSR INS IGF1
3 alstrom syndrome 33.2 LEP INS ALMS1
4 donohue syndrome 32.5 INSR INS IGF1R IGF1
5 lipodystrophy, familial partial, type 2 32.2 LMNA LEP INS
6 familial partial lipodystrophy 31.9 PPARG LMNA LEP INS
7 osteoglophonic dysplasia 31.8 FGFR3 FGFR2
8 proteasome-associated autoinflammatory syndrome 1 31.8 PPARG INS ADIPOQ
9 anorexia nervosa 31.7 PRL LEP IGF1 ADIPOQ
10 acquired generalized lipodystrophy 31.6 PPARG LMNA LEP INS ADIPOQ
11 plagiocephaly 31.6 FGFR3 FGFR2
12 lipodystrophy, congenital generalized, type 1 31.5 LMNA LEP INS ADIPOQ
13 apnea, obstructive sleep 31.4 LEP INS ADIPOQ
14 hypertension, essential 31.3 LEP INSR INS ADIPOQ
15 arteriosclerosis 31.2 PPARG INS ADIPOQ
16 jackson-weiss syndrome 31.2 FGFR3 FGFR2
17 sleep disorder 31.2 PRL LEP INS
18 secondary adrenal insufficiency 31.2 INS IGF1
19 arteries, anomalies of 31.2 PPARG LEP INS ADIPOQ
20 lipodystrophy, congenital generalized, type 2 31.1 PPARG LMNA
21 pseudohypoparathyroidism, type ia 31.0 PRL IGF1
22 pancreas disease 31.0 LEP INS IGF1
23 empty sella syndrome 31.0 PRL IGF1
24 3-hydroxyacyl-coa dehydrogenase deficiency 30.9 PPARG LEP INS ADIPOQ
25 abdominal obesity-metabolic syndrome 1 30.8 PPARG LEP INS ADIPOQ
26 luteoma 30.8 FGFR3 FGFR2
27 exophthalmos 30.8 PRL FGFR3 FGFR2
28 hypopituitarism 30.8 PRL INS IGF1
29 prediabetes syndrome 30.7 PPARG LEP INS ADIPOQ
30 mammographic density 30.7 PRL IGF1
31 craniopharyngioma 30.7 PRL INS IGF1
32 hyperproinsulinemia 30.7 SHBG INS
33 lipid metabolism disorder 30.7 PPARG LEP INS ADIPOQ
34 nontuberculous mycobacterial lung disease 30.6 LEP ADIPOQ
35 pituitary gland disease 30.6 PRL INS IGF1
36 hyperthyroidism 30.5 SHBG PRL LEP INS
37 fetal macrosomia 30.5 LEP INSR INS IGF1
38 maturity-onset diabetes of the young, type 10 30.5 PPARG INS
39 acromegaly 30.4 PRL INS IGF1
40 estrogen excess 30.3 SHBG PRL
41 atherosclerosis susceptibility 30.3 PPARG INS ADIPOQ
42 inherited metabolic disorder 30.2 LEP INS ADIPOQ
43 hyperinsulinism 30.2 SHBG LEP INSR INS IGF1
44 maturity-onset diabetes of the young, type 1 30.1 PPARG LEP INSR INS ADIPOQ
45 amenorrhea 30.1 SHBG PRL LEP
46 pituitary apoplexy 30.1 PRL INS
47 fatty liver disease 30.0 LEP INSR INS ADIPOQ
48 hydrocephalus 30.0 PRL IGF1 FGFR3 FGFR2
49 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 LMNA INS ADIPOQ
50 endocrine organ benign neoplasm 29.9 PRL INS IGF1

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:

32
# Description HPO Frequency HPO Source Accession
1 acanthosis nigricans 32 HP:0000956

Symptoms via clinical synopsis from OMIM:

57
Skin:
benign acanthosis nigricans
thick hyperpigmented flexural area skin

Clinical features from OMIM:

100600

UMLS symptoms related to Acanthosis Nigricans:


pruritus

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.62 FGFR3 IGF1R INSR PPARG
2 Decreased viability GR00221-A-2 9.62 FGFR3 IGF1R INSR PPARG
3 Decreased viability GR00221-A-3 9.62 FGFR3 IGF1R INSR PPARG
4 Decreased viability GR00221-A-4 9.62 INSR PPARG
5 Decreased viability GR00301-A 9.62 IGF1R
6 Decreased viability GR00342-S-2 9.62 IGF1R
7 Decreased viability GR00402-S-2 9.62 FGFR3 IGF1R INSR PPARG
8 Decreased substrate adherent cell growth GR00193-A-2 9.35 FGFR2
9 Decreased substrate adherent cell growth GR00193-A-3 9.35 FGFR2 FGFR3 INSR
10 Decreased substrate adherent cell growth GR00193-A-4 9.35 INSR

MGI Mouse Phenotypes related to Acanthosis Nigricans:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
2 endocrine/exocrine gland MP:0005379 10.35 ADIPOQ ALMS1 FGFR2 IGF1 IGF1R INS
3 growth/size/body region MP:0005378 10.35 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
4 homeostasis/metabolism MP:0005376 10.35 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
5 immune system MP:0005387 10.34 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
6 cellular MP:0005384 10.33 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
7 adipose tissue MP:0005375 10.31 ADIPOQ ALMS1 FGFR2 IGF1 IGF1R INS
8 cardiovascular system MP:0005385 10.3 ADIPOQ FGFR2 IGF1 IGF1R INS INSR
9 hematopoietic system MP:0005397 10.29 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INS
10 liver/biliary system MP:0005370 10.22 ADIPOQ ALMS1 FGFR2 IGF1R INS INSR
11 integument MP:0010771 10.21 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INS
12 nervous system MP:0003631 10.18 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 IGF1R
13 mortality/aging MP:0010768 10.16 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INS
14 digestive/alimentary MP:0005381 10.13 FGFR2 FGFR3 IGF1R INS INSR LEP
15 hearing/vestibular/ear MP:0005377 10.1 ALMS1 FGFR2 FGFR3 IGF1 IGF1R LMNA
16 muscle MP:0005369 10.09 ADIPOQ FGFR2 IGF1 IGF1R INS INSR
17 neoplasm MP:0002006 10.06 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R LEP
18 renal/urinary system MP:0005367 10.02 ADIPOQ ALMS1 FGFR2 FGFR3 IGF1 INS
19 reproductive system MP:0005389 10 ALMS1 FGFR2 FGFR3 IGF1 IGF1R INS
20 limbs/digits/tail MP:0005371 9.97 FGFR2 FGFR3 IGF1 IGF1R LEP LMNA
21 respiratory system MP:0005388 9.76 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INSR
22 skeleton MP:0005390 9.65 ADIPOQ FGFR2 FGFR3 IGF1 IGF1R INS
23 vision/eye MP:0005391 9.17 ALMS1 FGFR2 FGFR3 INS LEP LMNA

Drugs & Therapeutics for Acanthosis Nigricans

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
2
Metformin Approved Phase 3 657-24-9 4091 14219
3
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
4
Enclomiphene Investigational Phase 3 15690-57-0
5 insulin Phase 3
6 Insulin, Globin Zinc Phase 3
7 Autoantibodies Phase 3
8 Hypoglycemic Agents Phase 3
9 Fertility Agents Phase 3
10 Hormones Phase 3
11 Hormone Antagonists Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
13 Selective Estrogen Receptor Modulators Phase 3
14 Estrogens Phase 3
15 Steroid Synthesis Inhibitors Phase 3
16 Clomiphene Phase 3
17 Estrogen Receptor Modulators Phase 3
18 Estrogen Receptor Antagonists Phase 3
19 Estrogen Antagonists Phase 3
20 Aromatase Inhibitors Phase 3
21 Zuclomiphene Phase 3
22
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
23
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
24
Sodium citrate Approved, Investigational Phase 2 68-04-2
25
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
26 Diuretics, Potassium Sparing Phase 2
27 Natriuretic Agents Phase 2
28 diuretics Phase 2
29 Mineralocorticoids Phase 2
30 Mineralocorticoid Receptor Antagonists Phase 2
31 Antineoplastic Agents, Hormonal Phase 2
32 Citrate Phase 2
33
Paroxetine Approved, Investigational 61869-08-7 43815
34
Sertraline Approved 79617-96-2 68617
35
Fluoxetine Approved, Vet_approved 54910-89-3 3386
36
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
37
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
38
Calcium Approved, Nutraceutical 7440-70-2 271
39 Antioxidants
40 Vitamins
41 Vitamin B 6
42 Central Nervous System Depressants
43 Protective Agents
44 Vitamin B Complex
45 Calcium, Dietary
46 Antidepressive Agents
47
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

Interventional clinical trials:

(show all 14)
# 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 Children's Healthy Living Program for Remote Underserved Minority Populations in the Pacific Region Unknown status NCT01881373 Phase 4
3 Glycemic Control in Children and Adolescents With Double Diabetes: Trial of Optimized Insulin-Metformin Regimen Completed NCT01334125 Phase 3 Metformin;Placebo
4 Studies to Treat Or Prevent Pediatric Type 2 Diabetes (STOPP-T2D) Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) Clinical Trial Completed NCT00081328 Phase 3 Metformin;Rosiglitazone
5 Efficacy of Combined Letrozole-metformin in Comparison With Letrozole Only in Clomiphene Resistant Infertile Women With Polycystic Ovarian Syndrome Recruiting NCT03135301 Phase 3 letrozole plus metformin;letrozole
6 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
7 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
8 Prevalence of Carbohydrate Intolerance in Lean and Obese Children Unknown status NCT00000112
9 Spectroscopic and Colorimetric Analysis of Acanthosis Nigricans in Patients With Hyperinsulinemia Completed NCT01125150 Metformin
10 Effect of Melatonin on Body Composition, Glucose Metabolism and Lipid Metabolism Completed NCT02604095
11 Repercussion of Maternal Lifestyle on Obstetric and Neonatal Outcomes Completed NCT01409382
12 PACE-iDP: An Intervention for Youth at Risk for Diabetes Completed NCT00412165
13 Prevalence of Carbohydrate Intolerance in Lean and Overweight/Obese Children Recruiting NCT01967849
14 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499

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:

41
Skin, Ovary, Lung, Liver, Thyroid, Breast, Bone

Publications for Acanthosis Nigricans

Articles related to Acanthosis Nigricans:

(show top 50) (show all 1909)
# Title Authors PMID Year
1
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes. 9 38 8
10914675 2000
2
Familial acanthosis nigricans with madarosis. 38 8
7669619 1995
3
Autosomal dominant insulin resistance syndrome due to postbinding defect. 38 8
1282780 1992
4
Familial acanthosis nigricans. 38 8
6486848 1984
5
[Contribution to the clinical picture of benign familial acanthosis nigricans]. 38 8
5826935 1965
6
[Genetic pathology of acanthosis nigricans]. 38 8
13312473 1955
7
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. 9 38
20034074 2010
8
Alterations of carbohydrate and lipoprotein metabolism in childhood obesity--impact of insulin resistance and acanthosis nigricans. 9 38
20333871 2009
9
[Fatty liver disease, insulin resistance and adiponectin in an obese pediatric population]. 9 38
19850541 2009
10
Prevalence of acanthosis nigricans and its correlates in a cross-section of Nigerians with type 2 diabetes mellitus. 9 38
19762579 2009
11
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 9 38
19622626 2009
12
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies. 9 38
19387476 2009
13
Type B insulin resistance in a systemic lupus erythematosus patient. 9 38
20374339 2009
14
Evaluation of insulin resistance in obese women with and without acanthosis nigricans. 9 38
19348659 2009
15
Cardiometabolic risk among African American women: a pilot study. 9 38
19242280 2009
16
Malignant acanthosis nigricans with enhanced expression of fibroblast growth factor receptor 3. 9 38
19688170 2009
17
Paraneoplastic acanthosis nigricans and silent meningioma producing transforming growth factor-alpha. 9 38
19049942 2008
18
Clearance of acanthosis nigricans associated with insulinoma following surgical resection. 9 38
18669553 2008
19
Screening of glucose/insulin metabolic alterations in men with multiple skin tags on the neck. 9 38
18397315 2008
20
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 9 38
18583390 2008
21
Prevalence of insulin resistance and its association with metabolic syndrome criteria among Bolivian children and adolescents with obesity. 9 38
18700035 2008
22
Body shape and size and insulin resistance as early clinical predictors of hyperandrogenic anovulation in ethnic minority adolescent girls. 9 38
18639784 2008
23
Treatment options in insulin resistance obesity-related acanthosis nigricans. 9 38
18492785 2008
24
Insulin receptor autoimmunity and insulin resistance. 9 38
18556968 2008
25
Can adiponectin predict abnormal glucose tolerance in Thai women with polycystic ovary syndrome? 9 38
18226130 2008
26
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 9 38
18000903 2007
27
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 9 38
18041775 2007
28
Crouzon with acanthosis nigricans. Further delineation of the syndrome. 9 38
17935505 2007
29
Is Acanthosis Nigricans a reliable indicator for risk of type 2 diabetes? 9 38
17894521 2007
30
Familial acanthosis nigricans due to K650T FGFR3 mutation. 9 38
17875876 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. 9 38
17561467 2007
32
Current approaches to the diagnosis and treatment of polycystic ovarian syndrome in youth. 9 38
17426408 2007
33
High frequency of FGFR3 mutations in adenoid seborrheic keratoses. 9 38
16778799 2006
34
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 9 38
16841094 2006
35
Atypical localization of acanthosis nigricans in an obese patient with increased leptin level: is there an association? 9 38
16843127 2006
36
Influence of skin color on the diagnostic utility of clinical acanthosis nigricans to predict insulin resistance in obese patients. 9 38
16824934 2006
37
Screening for type 2 diabetes in children with acanthosis nigricans. 9 38
16873592 2006
38
Transmembrane helix heterodimerization in lipid bilayers: probing the energetics behind autosomal dominant growth disorders. 9 38
16500676 2006
39
FGFR3 dimer stabilization due to a single amino acid pathogenic mutation. 9 38
16384584 2006
40
[Metabolic syndrome in childhood and adolescence]. 9 38
16610614 2006
41
Androgen excess disorders in women: the severe insulin-resistant hyperandrogenic syndrome, HAIR-AN. 9 38
16435040 2006
42
Acanthosis Nigricans, insulin resistance (HOMA) and dyslipidemia among Native American children. 9 38
16499154 2006
43
African American women, metabolic syndrome, and national cholesterol education program criteria: a pilot study. 9 38
16224320 2005
44
Clinical presentation of type 2 diabetes mellitus in children and adolescents. 9 38
16385761 2005
45
Type A insulin resistance syndrome revealing a novel lamin A mutation. 9 38
15919811 2005
46
Insulin resistance and impaired glucose tolerance in obese children and adolescents referred to a tertiary-care center in Israel. 9 38
15889115 2005
47
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 9 38
15772091 2005
48
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report. 9 38
16052863 2005
49
Prevalence and characteristics of the metabolic syndrome in women with polycystic ovary syndrome. 9 38
15623819 2005
50
Insulin resistance in obese adolescents. 9 38
16302580 2005

Variations for Acanthosis Nigricans

ClinVar genetic disease variations for Acanthosis Nigricans:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 4:1807889-1807889 4:1806162-1806162
2 PRMT7 NM_019023.4(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic rs1251713297 16:68389688-68389688 16:68355785-68355785
3 PRMT7 NM_019023.4(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1014959895 16:68363008-68363008 16:68329105-68329105
4 FGFR3 NM_000142.4(FGFR3): c.1943A> C (p.Tyr648Ser) single nucleotide variant Likely pathogenic rs587779383 4:1807884-1807884 4:1806157-1806157
5 46;Y;inv(X)(q27q28) inversion Uncertain significance

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 all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 PRL LEP INSR INS IGF1R FGFR3
2
Show member pathways
13.44 PRL INSR INS IGF1R IGF1 FGFR3
3
Show member pathways
12.97 INSR INS IGF1R IGF1 FGFR3 FGFR2
4
Show member pathways
12.9 INSR IGF1R IGF1 FGFR3 FGFR2
5
Show member pathways
12.84 PRL INSR INS IGF1R IGF1 FGFR3
6
Show member pathways
12.79 PPARG INS IGF1R IGF1 FGFR2
7
Show member pathways
12.78 INSR IGF1R IGF1 FGFR3 FGFR2
8 12.75 PPARG IGF1R IGF1 FGFR3 FGFR2
9 12.65 INSR INS IGF1R IGF1 FGFR3 FGFR2
10
Show member pathways
12.62 INSR INS FGFR3 FGFR2
11
Show member pathways
12.62 INSR INS IGF1R IGF1 FGFR3 FGFR2
12 12.46 PPARG INSR INS IGF1R ADIPOQ
13
Show member pathways
12.37 INSR IGF1R FGFR3 FGFR2
14
Show member pathways
12.31 INSR IGF1R IGF1 FGFR3 FGFR2
15
Show member pathways
12.26 INSR INS IGF1R IGF1 FGFR3 FGFR2
16
Show member pathways
12.25 PPARG INSR IGF1R IGF1
17
Show member pathways
12.18 IGF1R IGF1 FGFR3 FGFR2
18
Show member pathways
12.12 LMNA INSR IGF1R FGFR3 FGFR2
19 12.07 INSR IGF1R FGFR3 FGFR2
20
Show member pathways
12.06 IGF1R IGF1 FGFR2
21
Show member pathways
12.06 PPARG INSR IGF1R
22 12.04 IGF1R IGF1 FGFR3 FGFR2
23 12.03 LMNA INSR IGF1R FGFR3 FGFR2
24
Show member pathways
12.02 INSR INS IGF1R IGF1
25
Show member pathways
11.94 INSR INS IGF1R
26 11.89 INSR INS IGF1R IGF1
27 11.86 INS IGF1R IGF1
28
Show member pathways
11.82 INSR INS ADIPOQ
29
Show member pathways
11.81 PPARG INSR INS IGF1R IGF1 ADIPOQ
30 11.66 INSR IGF1R IGF1 FGFR3 FGFR2
31 11.62 IGF1R IGF1 FGFR3
32
Show member pathways
11.58 PPARG LEP INSR INS IGF1R IGF1
33 11.55 PPARG LMNA LEP INS IGF1 ADIPOQ
34 11.43 PRL LEP INSR INS
35 11.4 INSR INS IGF1R IGF1
36 11.35 INSR INS IGF1
37 11.32 INSR IGF1R FGFR3 FGFR2
38 11.3 INSR IGF1R IGF1 FGFR3 FGFR2
39 11.13 PPARG LEP ADIPOQ
40 10.94 INSR IGF1R IGF1 FGFR3 FGFR2
41 10.9 PPARG LEP INSR ADIPOQ

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 9.86 PRL LEP INS IGF1 FGFR3 FGFR2
2 receptor complex GO:0043235 9.46 INSR IGF1R FGFR3 FGFR2
3 endosome lumen GO:0031904 9.32 PRL INS
4 insulin receptor complex GO:0005899 8.96 INSR IGF1R
5 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 8.62 IGF1R IGF1

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.92 INSR INS IGF1R IGF1
2 peptidyl-tyrosine phosphorylation GO:0018108 9.86 INSR IGF1R FGFR3 FGFR2
3 cellular response to insulin stimulus GO:0032869 9.85 PPARG INSR ADIPOQ
4 protein autophosphorylation GO:0046777 9.85 INSR IGF1R FGFR3 FGFR2
5 insulin receptor signaling pathway GO:0008286 9.84 INSR INS IGF1R
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 LEP INS IGF1
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.82 LEP IGF1 FGFR3
8 cellular response to retinoic acid GO:0071300 9.82 PPARG LEP FGFR2
9 glucose metabolic process GO:0006006 9.79 LEP INS ADIPOQ
10 response to nutrient levels GO:0031667 9.77 PRL LEP ADIPOQ
11 positive regulation of cold-induced thermogenesis GO:0120162 9.76 LEP IGF1R ALMS1 ADIPOQ
12 positive regulation of cell proliferation GO:0008284 9.76 PRL LEP INSR INS IGF1R IGF1
13 positive regulation of protein kinase B signaling GO:0051897 9.72 LEP INSR INS FGFR3 FGFR2
14 activation of protein kinase B activity GO:0032148 9.71 INSR INS IGF1
15 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.7 IGF1 LMNA
16 positive regulation of cellular protein metabolic process GO:0032270 9.7 ADIPOQ INS
17 positive regulation of insulin receptor signaling pathway GO:0046628 9.7 INS LEP
18 regulation of fat cell differentiation GO:0045598 9.69 LEP PPARG
19 fatty acid oxidation GO:0019395 9.69 ADIPOQ PPARG
20 negative regulation of gluconeogenesis GO:0045721 9.69 ADIPOQ INS
21 positive regulation of mitotic nuclear division GO:0045840 9.69 INSR INS IGF1
22 insulin-like growth factor receptor signaling pathway GO:0048009 9.68 IGF1R IGF1
23 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.68 PPARG ADIPOQ
24 amyloid-beta clearance GO:0097242 9.68 INSR IGF1R
25 circadian rhythm GO:0007623 9.67 LEP ADIPOQ
26 neuron projection maintenance GO:1990535 9.67 INSR INS
27 dendritic spine maintenance GO:0097062 9.67 INSR IGF1R
28 response to ethanol GO:0045471 9.67 LEP FGFR2 ADIPOQ
29 positive regulation of phospholipase activity GO:0010518 9.66 FGFR2 FGFR3
30 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.65 FGFR3 FGFR2
31 negative regulation of apoptotic process GO:0043066 9.65 LEP IGF1R IGF1
32 negative regulation of acute inflammatory response GO:0002674 9.64 PPARG INS
33 endochondral bone growth GO:0003416 9.63 FGFR3 FGFR2
34 cell differentiation GO:0030154 9.63 PRMT7 PPARG
35 positive regulation of epithelial cell proliferation GO:0050679 9.62 IGF1 FGFR2
36 regulation of protein localization to nucleus GO:1900180 9.61 LMNA LEP
37 positive regulation of glycolytic process GO:0045821 9.61 INSR INS IGF1
38 positive regulation of respiratory burst GO:0060267 9.6 INSR INS
39 positive regulation of protein complex disassembly GO:0043243 9.58 INSR IGF1R
40 positive regulation of developmental growth GO:0048639 9.58 LEP INSR
41 response to nutrient GO:0007584 9.58 PPARG LEP ADIPOQ
42 bone mineralization involved in bone maturation GO:0035630 9.57 LEP IGF1
43 positive regulation of glucose import GO:0046326 9.56 INSR INS IGF1 ADIPOQ
44 positive regulation of glycogen biosynthetic process GO:0045725 9.54 INSR INS IGF1
45 regulation of multicellular organism growth GO:0040014 9.52 PRL IGF1
46 positive regulation of MAPK cascade GO:0043410 9.43 LEP INSR INS IGF1 FGFR3 FGFR2
47 glucose homeostasis GO:0042593 9.1 PPARG LEP INSR INS IGF1R ADIPOQ

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.67 INSR IGF1R FGFR3 FGFR2
2 fibroblast growth factor binding GO:0017134 9.52 FGFR3 FGFR2
3 phosphatidylinositol 3-kinase binding GO:0043548 9.51 INSR IGF1R
4 alpha-actinin binding GO:0051393 9.49 PPARG ALMS1
5 insulin-like growth factor I binding GO:0031994 9.48 INSR IGF1R
6 insulin receptor substrate binding GO:0043560 9.46 INSR IGF1R
7 insulin binding GO:0043559 9.43 INSR IGF1R
8 insulin receptor binding GO:0005158 9.43 INS IGF1R IGF1
9 fibroblast growth factor-activated receptor activity GO:0005007 9.4 FGFR3 FGFR2
10 insulin-like growth factor receptor binding GO:0005159 9.33 INSR INS IGF1
11 insulin-activated receptor activity GO:0005009 9.32 INSR IGF1R
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 INSR IGF1R FGFR3 FGFR2
13 hormone activity GO:0005179 9.02 PRL LEP INS IGF1 ADIPOQ

Sources for Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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