Acanthosis Nigricans disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ACN002 MIFTS: 64	Acanthosis Nigricans Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Acanthosis Nigricans

MalaCards integrated aliases for Acanthosis Nigricans:

Name: Acanthosis Nigricans ⁵⁸ ¹² ⁷⁷ ⁵⁴ ³⁰ ⁵⁶ ⁶ ⁴⁵ ¹⁵ ¹⁷ ⁷⁴

an - Acanthosis Nigricans ¹²

Keratosis Nigricans ¹²

an ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

acanthosis nigricans:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

Acanthosis nigricans

External Ids:

Disease Ontology ¹² DOID:3138

OMIM ⁵⁸ 100600

MeSH ⁴⁵ D000052

NCIt ⁵¹ C26687

SNOMED-CT ⁶⁹ 72129000

ICD10 ³⁴ L83

MedGen ⁴³ C0000889

SNOMED-CT via HPO ⁷⁰ 263681008 402599005

EFO ¹⁷ EFO_1000660

UMLS ⁷⁴ C0000889

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Summaries for Acanthosis Nigricans

NIH Rare Diseases : ⁵⁴ 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 Developmental Biology. The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related phenotypes are acanthosis nigricans and Decreased viability

Wikipedia : ⁷⁷ Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is... more...

Description from OMIM: 100600

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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 11082)

#	Related Disease	Score	Top Affiliating Genes
1	beare-stevenson cutis gyrata syndrome	33.8	FGFR2 FGFR3
2	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	32.7	INS INSR
3	alstrom syndrome	32.6	ALMS1 INS LEP
4	anorexia nervosa	32.1	ADIPOQ LEP PRL
5	lipodystrophy, familial partial, type 2	31.9	INS LEP LMNA
6	lipodystrophy, congenital generalized, type 1	31.3	ADIPOQ INS LEP LMNA
7	atherosclerosis susceptibility	31.0	ADIPOQ INS PPARG
8	sleep apnea	31.0	ADIPOQ INS LEP
9	plagiocephaly	31.0	FGFR2 FGFR3
10	donohue syndrome	30.9	IGF1R INS INSR
11	proteasome-associated autoinflammatory syndrome 1	30.9	ADIPOQ INS PPARG
12	hydrocephalus	30.9	FGFR2 FGFR3 PRL
13	hyperproinsulinemia	30.9	INS SHBG
14	hypertension, essential	30.9	ADIPOQ INS INSR LEP
15	nonalcoholic fatty liver disease	30.9	ADIPOQ INS LEP
16	fatty liver disease	30.8	ADIPOQ INS INSR LEP
17	exophthalmos	30.8	FGFR2 FGFR3 PRL
18	radioulnar synostosis	30.8	FGFR2 FGFR3
19	hyperinsulinism	30.8	INS INSR LEP SHBG
20	arteriosclerosis	30.7	ADIPOQ INS PPARG
21	arteries, anomalies of	30.7	ADIPOQ INS LEP PPARG
22	hyperandrogenism	30.7	INS INSR PRL SHBG
23	lipodystrophy, congenital generalized, type 2	30.6	LMNA PPARG
24	hyperthyroidism	30.6	INS LEP PRL SHBG
25	osteoglophonic dysplasia	30.6	FGFR2 FGFR3
26	fetal macrosomia	30.6	INS INSR LEP
27	chronic kidney failure	30.6	ADIPOQ INS LEP
28	luteoma	30.5	FGFR2 FGFR3
29	3-hydroxyacyl-coa dehydrogenase deficiency	30.5	ADIPOQ INS LEP PPARG
30	estrogen excess	30.5	PRL SHBG
31	jackson-weiss syndrome	30.4	FGFR2 FGFR3
32	abdominal obesity-metabolic syndrome 1	30.4	ADIPOQ INS LEP PPARG
33	hyperglycemia	30.4	ADIPOQ INS INSR LEP PPARG
34	sleep disorder	30.4	INS LEP PRL
35	prediabetes syndrome	30.4	ADIPOQ INS LEP PPARG
36	familial partial lipodystrophy	30.4	INS LEP LMNA PPARG
37	thanatophoric dysplasia, type i	30.3	FGFR2 FGFR3
38	androgenic alopecia	30.2	PRL SHBG
39	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	30.2	ADIPOQ INS LMNA
40	fetal erythroblastosis	30.2	INS SHBG
41	large intestine cancer	30.2	ADIPOQ IGF1R INS PPARG
42	maturity-onset diabetes of the young, type 10	30.2	INS PPARG
43	nontuberculous mycobacterial lung disease	30.1	ADIPOQ LEP
44	nonalcoholic steatohepatitis	30.1	ADIPOQ INS LEP
45	amenorrhea	30.1	LEP PRL SHBG
46	polycystic ovary syndrome	30.1	INS INSR LEP PRL SHBG
47	anovulation	30.1	INS LEP PRL SHBG
48	maturity-onset diabetes of the young, type 1	29.9	ADIPOQ INS INSR LEP PPARG
49	overnutrition	29.9	ADIPOQ INS LEP PPARG SHBG
50	lipid metabolism disorder	29.9	ADIPOQ INS LEP PPARG

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

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Symptoms & Phenotypes for Acanthosis Nigricans

Human phenotypes related to Acanthosis Nigricans:

³³

#	Description	HPO Frequency	HPO Source Accession
1	acanthosis nigricans ³³		HP:0000956

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

²⁷ (show all 11)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.1	FGFR3 IGF1R INSR PPARG
2	Decreased viability	GR00221-A-2	10.1	FGFR3 IGF1R INSR PPARG
3	Decreased viability	GR00221-A-3	10.1	FGFR3 IGF1R INSR PPARG
4	Decreased viability	GR00221-A-4	10.1	INSR PPARG
5	Decreased viability	GR00301-A	10.1	IGF1R
6	Decreased viability	GR00342-S-2	10.1	IGF1R
7	Decreased viability	GR00402-S-2	10.1	FGFR3 IGF1R INSR PPARG
8	Decreased human cytomegalovirus (HCMV) strain AD169 replication	GR00248-A	9.46	FGFR2 FGFR3 IGF1R INSR
9	Decreased substrate adherent cell growth	GR00193-A-2	9.35	FGFR2
10	Decreased substrate adherent cell growth	GR00193-A-3	9.35	FGFR2 FGFR3 INSR
11	Decreased substrate adherent cell growth	GR00193-A-4	9.35	INSR

MGI Mouse Phenotypes related to Acanthosis Nigricans:

⁴⁷ (show all 22)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.34	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
2	endocrine/exocrine gland	MP:0005379	10.31	ADIPOQ ALMS1 FGFR2 IGF1R INS INSR
3	growth/size/body region	MP:0005378	10.3	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
4	homeostasis/metabolism	MP:0005376	10.3	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
5	immune system	MP:0005387	10.29	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
6	cellular	MP:0005384	10.28	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
7	adipose tissue	MP:0005375	10.26	ADIPOQ ALMS1 FGFR2 IGF1R INS INSR
8	cardiovascular system	MP:0005385	10.24	ADIPOQ FGFR2 IGF1R INS INSR LEP
9	hematopoietic system	MP:0005397	10.24	ADIPOQ FGFR2 FGFR3 IGF1R INS INSR
10	liver/biliary system	MP:0005370	10.22	ADIPOQ ALMS1 FGFR2 IGF1R INS INSR
11	nervous system	MP:0003631	10.18	ADIPOQ ALMS1 FGFR2 FGFR3 IGF1R INS
12	integument	MP:0010771	10.15	ADIPOQ FGFR2 FGFR3 IGF1R INS LEP
13	digestive/alimentary	MP:0005381	10.12	FGFR2 FGFR3 IGF1R INS INSR LEP
14	muscle	MP:0005369	10.06	ADIPOQ FGFR2 IGF1R INS INSR LEP
15	neoplasm	MP:0002006	10.03	ADIPOQ FGFR2 FGFR3 IGF1R LEP PPARG
16	hearing/vestibular/ear	MP:0005377	10.02	ALMS1 FGFR2 FGFR3 IGF1R LMNA PPARG
17	renal/urinary system	MP:0005367	9.97	ADIPOQ ALMS1 FGFR2 FGFR3 INS INSR
18	reproductive system	MP:0005389	9.96	ALMS1 FGFR2 FGFR3 IGF1R INS INSR
19	respiratory system	MP:0005388	9.7	ADIPOQ FGFR2 FGFR3 IGF1R INSR LEP
20	pigmentation	MP:0001186	9.67	ALMS1 FGFR2 LEP LMNA
21	skeleton	MP:0005390	9.61	ADIPOQ FGFR2 FGFR3 IGF1R INS LEP
22	vision/eye	MP:0005391	9.17	ALMS1 FGFR2 FGFR3 INS LEP LMNA

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Drugs & Therapeutics for Acanthosis Nigricans

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

(show top 50) (show all 60)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Metformin

Approved

Phase 4,Phase 3,Phase 2

657-24-9

14219 4091

Hypoglycemic Agents

Phase 4,Phase 3,Phase 2

Letrozole

Approved, Investigational

Phase 3

112809-51-5

3902

Enclomiphene

Investigational

Phase 3,Phase 2

15690-57-0

Selective Estrogen Receptor Modulators

Phase 3,Phase 2

Hormone Antagonists

Phase 3,Phase 2

Fertility Agents

Phase 3,Phase 2

Estrogens

Phase 3,Phase 2

Estrogen Receptor Modulators

Phase 3,Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 3,Phase 2

Zuclomiphene

Phase 3,Phase 2

Aromatase Inhibitors

Phase 3

Estrogen Receptor Antagonists

Phase 3,Phase 2

Clomiphene

Phase 3,Phase 2

Estrogen Antagonists

Phase 3,Phase 2

Hormones

Phase 3,Phase 2

Steroid Synthesis Inhibitors

Phase 3

Autoantibodies

Phase 3

insulin

Phase 3,Phase 2

Insulin, Globin Zinc

Phase 3,Phase 2

Leuprolide

Approved, Investigational

Phase 2

53714-56-0

657181 3911

Spironolactone

Approved

Phase 2

1952-01-7, 52-01-7

5833

Sodium Citrate

Approved, Investigational

Phase 2

68-04-2

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 2

77-92-9

311

Antineoplastic Agents, Hormonal

Phase 2

Diuretics, Potassium Sparing

Phase 2

diuretics

Phase 2

Mineralocorticoids

Phase 2

Natriuretic Agents

Phase 2

Mineralocorticoid Receptor Antagonists

Phase 2

Citrate

Phase 2

Risperidone

Approved, Investigational

106266-06-2

5073

Dopamine

Approved

62-31-7, 51-61-6

681

Aripiprazole

Approved, Investigational

129722-12-9

60795

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Not Applicable

65-23-6

1054

Calcium

Approved, Nutraceutical

Not Applicable

7440-70-2

271

Melatonin

Approved, Nutraceutical, Vet_approved

Not Applicable

73-31-4

896

Calcium, Dietary

Not Applicable

Vitamin B 6

Not Applicable

Protective Agents

Not Applicable

Antioxidants

Not Applicable

Central Nervous System Depressants

Not Applicable

Vitamin B Complex

Not Applicable

Vitamins

Not Applicable

Serotonin Agents

Serotonin Antagonists

Neurotransmitter Agents

Psychotropic Drugs

Serotonin 5-HT1 Receptor Agonists

Serotonin Receptor Agonists

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity	Unknown status	NCT02438020	Phase 4	Metformin
2	Letrozole in Clomiphene Resistant Infertile Women With Polycystic Ovarian Syndrome	Recruiting	NCT03135301	Phase 3	letrozole plus metformin;letrozole
3	Adjunctive Metformin Therapy in Double Diabetes	Completed	NCT01334125	Phase 3	Metformin;Placebo
4	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
5	Metformin Improves Clinical Pregnancy Rate in Polycystic Ovarian Syndrome Patients	Completed	NCT02562664	Phase 2	CC;Placebo tablets;Metformin
6	Prevalence of Carbohydrate Intolerance in Lean and Obese Children	Unknown status	NCT00000112
7	The Efficacy of an Inpatient Program for Long-term Weight Maintenance in Children and Adolescents With Morbid Obesity	Unknown status	NCT01254266	Not Applicable
8	Spectroscopic and Colorimetric Analysis of Acanthosis Nigricans in Patients With Hyperinsulinemia	Completed	NCT01125150		Metformin
9	Effect of Melatonin on Body Composition, Glucose Metabolism and Lipid Metabolism	Completed	NCT02604095	Not Applicable
10	Long-term Antipsychotic Pediatric Safety Trial (LAPS)	Recruiting	NCT03522168		Risperidone;Aripiprazole

Search NIH Clinical Center for Acanthosis Nigricans

Cochrane evidence based reviews: acanthosis nigricans

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Genetic Tests for Acanthosis Nigricans

Genetic tests related to Acanthosis Nigricans:

#	Genetic test	Affiliating Genes
1	Acanthosis Nigricans ³⁰

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Anatomical Context for Acanthosis Nigricans

MalaCards organs/tissues related to Acanthosis Nigricans:

⁴²

Skin, Bone, Breast, Brain, Heart, Kidney, Lung

Sources

Publications for Acanthosis Nigricans

Articles related to Acanthosis Nigricans:

(show top 50) (show all 789)

#	Title	Authors	Year
1	Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus). ( 30117157 )	Larsabal M...Morice-Picard F	2019
2	De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. ( 30487246 )	Mueller N...Schuelke M	2019
3	Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review. ( 30635042 )	Fu J...Xiao X	2019
4	Correction to: Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 30680537 )	Zaki NS...Essam RM	2019
5	Changes in inflammatory markers correlated with increased testosterone after laparoscopic sleeve gastrectomy in obese Chinese men with acanthosis nigricans. ( 30724385 )	Zhu C...Qu S	2019
6	Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. ( 30762251 )	Muguet Guenot L...Groupe de Recherche de la Soci?t? Fran?aise de Dermatologie P?diatrique	2019
7	Case presentation of acanthosis nigricans diagnosed with gastric adenocarcinoma. ( 30836438 )	Despoina C...Dimitrios T	2019
8	Comparison of the efficacy and safety of 0.1% adapalene gel and 0.025% tretinoin cream in the treatment of childhood acanthosis nigricans. ( 30883877 )	Treesirichod A...Wongjitrat N	2019
9	Acanthosis nigricans: To be or not to be afraid. ( 30944606 )	Popa ML...Gheorghisan-Galateanu AA	2019
10	Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans. ( 30983034 )	Dodds M...Maguiness S	2019
11	Effectiveness and Safety of Metformin versus Canthex™ in Patients with Acanthosis Nigricans: A Randomized, Double-blind Controlled Trial. ( 30983607 )	Sett A...Das NK	2019
12	Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. ( 31016899 )	Rymer K...Rhodes J	2019
13	Familial acanthosis nigricans with p.K650T FGFR3 mutation. ( 29068064 )	Fukuchi K...Tokura Y	2018
14	Acanthosis nigricans and the metabolic syndrome. ( 29241752 )	Karada? AS...Chen W	2018
15	Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. ( 29351036 )	Xu W...Taylor JA	2018
16	Melatonin Treatment Improves Insulin Resistance and Pigmentation in Obese Patients with Acanthosis Nigricans. ( 29706998 )	Sun H...Qu S	2018
17	Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 29713841 )	Zaki NS...Essam RM	2018
18	Velvety Hyperpigmentation on Hands and Feet of a Young Girl: Acral Acanthosis Nigricans. ( 29865956 )	Bishnoi A...Parsad D	2018
19	Hidradenitis suppurativa in a patient with hyperandrogenism, insulin-resistance and acanthosis nigricans (HAIR-AN syndrome). ( 29991979 )	Melibary YT	2018
20	Correction to: Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 30054856 )	Zaki NS...Essam RM	2018
21	Malignant Acanthosis nigricans associated with early diagnosis of liver cancer. ( 30066784 )	Antonio JR...Antonio CR	2018
22	Current treatment options for acanthosis nigricans. ( 30122971 )	Patel NU...Feldman SR	2018
23	Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients. ( 30168875 )	Yasuda M...Ishikawa O	2018
24	Acanthosis nigricans in the knuckles: An early, accessible, straightforward, and sensitive clinical tool to predict insulin resistance. ( 30279953 )	Gonz?lez-Saldivar G...Gonz?lez-Gonz?lez JG	2018
25	The Sign of Leser-Trelát and Malignant Acanthosis Nigricans Associated With Fallopian Tube Carcinoma. ( 30303917 )	West L...Goff HW	2018
26	ASSOCIATION BETWEEN ACANTHOSIS NIGRICANS AND OTHER CARDIOMETABOLIC RISK FACTORS IN CHILDREN AND ADOLESCENTS WITH OVERWEIGHT AND OBESITY. ( 30365811 )	Palhares HMDC...Borges MF	2018
27	Acanthosis nigricans in achondroplasia. ( 30380187 )	Smid CJ...Pauli RM	2018
28	Acanthosis nigricans at sites of insulin injection in a man with diabetes. ( 30478218 )	Huang Y...Hessami-Booshehri M	2018
29	Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations. ( 30580445 )	Bessis D...Vendrell J	2018
30	Effect of the Children's Healthy Living Program on Young Child Overweight, Obesity, and Acanthosis Nigricans in the US-Affiliated Pacific Region: A Randomized Clinical Trial. ( 30646266 )	Novotny R...Wilkens LR	2018
31	Acanthosis nigricans in obese adolescents: prevalence, impact, and management challenges. ( 28031729 )	Ng HY	2017
32	The Clinical Characteristics of Obese Patients with Acanthosis Nigricans and Its Independent Risk Factors. ( 28081576 )	Huang Y...Qu S	2017
33	A study of the association of acanthosis nigricans with subclinical atherosclerosis. ( 28164885 )	Guevara-Guti?rrez E...Miranda-D?az A	2017
34	Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )	Couser NL...Powell CM	2017
35	Concomitant confluent and reticulated papillomatosis and acanthosis nigricans in an obese girl with insulin resistance successfully treated with oral minocycline: Case report and published work review. ( 28295566 )	Fukumoto T...Oka M	2017
36	Gastric Cancer Associated With Malignant Acanthosis Nigricans. ( 28317636 )	Yin WB...Lu Y	2017
37	The Associations of Serum Uric Acid with Obesity-Related Acanthosis nigricans and Related Metabolic Indices. ( 28367214 )	Zhu C...Qu S	2017
38	Successful Repigmentation of Vitiligo-Like Hypopigmentation in a Case of Acanthosis Nigricans. ( 28392666 )	Chun SH...Kim IH	2017
39	Severe, Malignant Acanthosis Nigricans Associated with Adenocarcinoma of the Endometrium in a Young Obese Female. ( 28413386 )	Deen J...Burdon-Jones D	2017
40	Association of metabolic syndrome with low birth weight, intake of high-calorie diets and acanthosis nigricans in children and adolescents with overweight and obesity. ( 28440765 )	Velazquez-Bautista M...Torres-Mendoza BM	2017
41	Arterial stiffening, insulin resistance and acanthosis nigricans in a community sample of adolescents with obesity. ( 28465605 )	Hudson LD...Viner RM	2017
42	Image Gallery: Generalized mucosal and cutaneous papillomatosis, a unique sign of malignant acanthosis nigricans. ( 28504375 )	Wang L...Ling T	2017
43	Effects of glycolic acid peeling on the cutaneous manifestation of generalized acanthosis nigricans caused by FGFR3 mutation: A report of one sporadic and two familial cases. ( 28620983 )	Ichiyama S...Funasaka Y	2017
44	A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. ( 28663160 )	Tuhan H...Demir K	2017
45	Paediatric obesity treatment had better outcomes when children were younger, well motivated and did not have acanthosis nigricans. ( 28685930 )	Dalla Valle M...J??skel?inen J	2017
46	Acanthosis Nigricans and Its Response to Metformin. ( 28758315 )	Giri D...Ramakrishnan R	2017
47	Prevalence of Acanthosis nigricans and Related Factors in Iranian Obese Children. ( 28892990 )	Sayarifard F...Yaghmaei B	2017
48	Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans. ( 28930108 )	Demirci GT...Demiralay E	2017
49	Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3. ( 29026271 )	Hirai H...Ishii E	2017
50	Acanthosis nigricans: A screening test for insulin resistance - An important risk factor for diabetes mellitus type-2. ( 29026747 )	Bhagyanathan M...Bijayraj R	2017

Sources

Genes for Acanthosis Nigricans

Genes related to Acanthosis Nigricans (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	457.19	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	11426459 17875876 8880573 (more) 9182787 10377013 19622626 10696568 7493034 16778799 17935505 15517832 18000903 16841094 15772091 8696350 19688170 14987407 17561467 16384584 16500676 11039354 10541159 18583390 10053006 11870239 20034074 9151669
2	PRMT7	Protein Arginine Methyltransferase 7	Protein Coding	417.83	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	INSR	Insulin Receptor	Protein Coding	57.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	9104736 2180980 8621823 (more) 9872020 8456839 8314008 2215248 15232309 11595827 2101060 9352137 2128692
4	INS	Insulin	Protein Coding	36.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16499154 15733362 19348659 (more) 1304190 1316928 15265420 1612555 8621823 15186199 16302580 8172227 19242280 8303114 1607489 2101060 11573555 2138630 2217009 7662572 9872020 18492785 8469481 14651545 16385761 15919811 11860562 11428078 10231062 9578241 2075024 7852529 14715828 2215248 2180980 16435040 15802076 15232309 11436180 11595827 8458461 18397315 16873592 16824934 15161797 12425366 10325466 7951506 2095357 18700035 17656880 8288049 1588128 2137793 15889115 1497426 2407584 8390949 8136544 18639784 17590683 17322752 16224320 15070911 11916958 11907848 11328611 11168330 7983791 7914241 8021347 1563582 1874935 1846830 20374339 20046314 19762579 18041775 17894521 16610614 17039177 15790014 15256325 12180897 11244342 10914675 9920060 10987057 7860063 7809540 7977931 8456839 1590285 1955101 2035982 2002058 20333871 18669553 18556968 10883089
5	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	32.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders (show sections)	11039354 19387476
6	LEP	Leptin	Protein Coding	28.63	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16843127
7	ADIPOQ	Adiponectin, C1Q And Collagen Domain Containing	Protein Coding	26.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	18226130 19850541
8	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	25.79	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9876344
9	LMNA	Lamin A/C	Protein Coding	24.9	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	18041775 12145775
10	SHBG	Sex Hormone Binding Globulin	Protein Coding	24.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	15623819 17426408
11	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	23.39	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
12	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	22.2	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
13	PRL	Prolactin	Protein Coding	22.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Acanthosis Nigricans

ClinVar genetic disease variations for Acanthosis Nigricans:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PRMT7	NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter)	single nucleotide variant	Pathogenic	rs1251713297	GRCh38	Chromosome 16, 68355785: 68355785
2	PRMT7	NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter)	single nucleotide variant	Pathogenic	rs1251713297	GRCh37	Chromosome 16, 68389688: 68389688
3	PRMT7	NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1014959895	GRCh38	Chromosome 16, 68329105: 68329105
4	PRMT7	NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1014959895	GRCh37	Chromosome 16, 68363008: 68363008
5	FGFR3	NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)	single nucleotide variant	Pathogenic	rs78311289	GRCh38	Chromosome 4, 1806162: 1806162
6	FGFR3	NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln)	single nucleotide variant	Pathogenic	rs78311289	GRCh37	Chromosome 4, 1807889: 1807889
7	FGFR3	NM_000142.4(FGFR3): c.1943A> C (p.Tyr648Ser)	single nucleotide variant	Likely pathogenic	rs587779383	GRCh38	Chromosome 4, 1806157: 1806157
8	FGFR3	NM_000142.4(FGFR3): c.1943A> C (p.Tyr648Ser)	single nucleotide variant	Likely pathogenic	rs587779383	GRCh37	Chromosome 4, 1807884: 1807884
9		46;Y;inv(X)(q27q28)	inversion	Uncertain significance

Sources

Expression for Acanthosis Nigricans

Search GEO for disease gene expression data for Acanthosis Nigricans.

Sources

Pathways for Acanthosis Nigricans

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

(show all 33)

#	Super pathways	Score	Top Affiliating Genes
1	PEDF Induced Signaling ⁶⁵ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁵ Cytokine-cytokine receptor interaction ³⁸ Endothelin-1 Signaling Pathway ⁶⁵ Glucocorticoid Receptor Signaling ⁶⁵ IL-6 Pathway ⁶⁵ MIF Mediated Glucocorticoid Regulation ⁶⁵ MIF Regulation of Innate Immune Cells ⁶⁵ NFAT Signaling and Lymphocyte Interactions ⁶⁵ PGC1Alpha Pathway ⁶⁵ RAR-Gamma-RXR-Alpha Degradation ⁶⁵ STAT3 Pathway ⁶⁵	13.5	FGFR2 FGFR3 IGF1R INS INSR LEP
2	Developmental Biology ⁶⁷ Show member pathways Axon guidance ⁶⁷	13.34	ADIPOQ FGFR2 FGFR3 INS LEP PPARG
3	p70S6K Signaling ⁶⁵ Show member pathways mTOR Pathway ⁶⁵ Renin-Angiotensin Pathway ⁶⁵	12.89	FGFR2 FGFR3 IGF1R INS INSR
4	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.82	FGFR2 FGFR3 IGF1R INS INSR PRL
5	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁶ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁶ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁶ IL-2 Signaling Pathways ⁶⁶ IL-21 Signaling Pathways ⁶⁶ IL-4 Signaling Pathways ⁶⁶ IL-7 Signaling Pathways ⁶⁶ IL-9 Pathway ⁶⁵ IL-9 Signaling Pathways ⁶⁶ Immune response IL-9 signaling pathway ²³	12.62	ADIPOQ INS INSR LEP
6	MAPK signaling pathway ¹ ³⁸	12.62	FGFR2 FGFR3 IGF1R INS INSR
7	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.58	FGFR2 FGFR3 IGF1R INS INSR
8	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.57	FGFR2 FGFR3 INS INSR
9	Glucose / Energy Metabolism ⁴	12.38	ADIPOQ IGF1R INS INSR PPARG
10	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.32	FGFR2 FGFR3 IGF1R INS INSR
11	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.29	FGFR2 FGFR3 IGF1R INSR
12	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.24	FGFR2 FGFR3 IGF1R INSR
13	AMPK Enzyme Complex Pathway ⁶⁵ Show member pathways Chromatin Remodeling ⁶⁵ mitochondrial L-carnitine shuttle ¹	12.07	INS INSR LEP
14	mTOR Pathway ⁷³ Show member pathways Insulin Pathway ⁷³ TGF-beta Pathway ⁷³	12.02	IGF1R INSR PPARG
15	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.02	FGFR2 FGFR3 IGF1R INSR LMNA
16	Tyrosine Kinases / Adaptors ⁴	12	FGFR2 FGFR3 IGF1R INSR
17	AKT Signaling Pathway ⁶⁸	11.96	FGFR2 FGFR3 IGF1R INSR LMNA
18	Signaling pathways regulating pluripotency of stem cells ³⁸	11.95	FGFR2 FGFR3 IGF1R
19	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.94	IGF1R INS INSR
20	Longevity regulating pathway ³⁸ Show member pathways Longevity regulating pathway - multiple species ³⁸	11.9	ADIPOQ IGF1R INS INSR PPARG
21	Hepatic ABC Transporters ⁶⁵ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁵	11.88	IGF1R INS INSR
22	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁸ AMPK Signaling Pathway ⁶⁸	11.85	ADIPOQ IGF1R INS INSR LEP PPARG
23	HIF-1 signaling pathway ³⁸	11.77	IGF1R INS INSR
24	Type II diabetes mellitus ¹ ³⁸ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶²	11.75	ADIPOQ INS INSR
25	Adipogenesis ¹	11.67	ADIPOQ INS LEP LMNA PPARG
26	G-protein signaling_RhoA regulation pathway ²³	11.58	FGFR2 FGFR3 IGF1R INSR
27	Ovarian steroidogenesis ³⁸	11.41	IGF1R INS INSR
28	Signaling events mediated by PTP1B ¹	11.37	INS INSR LEP PRL
29	G-protein signaling_Cross-talk between Ras-family GTPases ²³	11.26	FGFR2 FGFR3 IGF1R INSR
30	Alzheimers Disease Pathway ⁶⁵	11.21	FGFR2 FGFR3 IGF1R INSR
31	Insulin-mediated glucose transport ¹	11.12	INS INSR
32	Differentiation of white and brown adipocyte ¹	11.05	ADIPOQ LEP PPARG
33	Transcription factor regulation in adipogenesis ¹	10.27	ADIPOQ INSR LEP PPARG

Sources

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	9.8	ADIPOQ FGFR2 FGFR3 INS LEP PRL
2	endosome lumen	GO:0031904	9.16	INS PRL
3	insulin receptor complex	GO:0005899	8.96	IGF1R INSR
4	receptor complex	GO:0043235	8.92	FGFR2 FGFR3 IGF1R INSR

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

(show all 42)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of signaling receptor activity	GO:0010469	9.98	ADIPOQ INS LEP PRL
2	cellular response to insulin stimulus	GO:0032869	9.81	ADIPOQ INSR PPARG
3	insulin receptor signaling pathway	GO:0008286	9.79	IGF1R INS INSR
4	peptidyl-tyrosine phosphorylation	GO:0018108	9.78	FGFR2 FGFR3 IGF1R INSR
5	protein autophosphorylation	GO:0046777	9.76	FGFR2 FGFR3 IGF1R INSR
6	cellular response to retinoic acid	GO:0071300	9.75	FGFR2 LEP PPARG
7	glucose metabolic process	GO:0006006	9.72	ADIPOQ INS LEP
8	response to nutrient levels	GO:0031667	9.7	ADIPOQ LEP PRL
9	regulation of multicellular organism growth	GO:0040014	9.69	FGFR2 PRL
10	positive regulation of protein phosphorylation	GO:0001934	9.68	ADIPOQ INSR
11	positive regulation of mitotic nuclear division	GO:0045840	9.68	INS INSR
12	positive regulation of JAK-STAT cascade	GO:0046427	9.68	LEP PRL
13	positive regulation of glycolytic process	GO:0045821	9.67	INS INSR
14	positive regulation of cellular protein metabolic process	GO:0032270	9.67	ADIPOQ INS
15	positive regulation of glycogen biosynthetic process	GO:0045725	9.67	INS INSR
16	positive regulation of cold-induced thermogenesis	GO:0120162	9.67	ADIPOQ ALMS1 IGF1R LEP
17	positive regulation of insulin receptor signaling pathway	GO:0046628	9.66	INS LEP
18	regulation of fat cell differentiation	GO:0045598	9.66	LEP PPARG
19	fatty acid oxidation	GO:0019395	9.65	ADIPOQ PPARG
20	negative regulation of gluconeogenesis	GO:0045721	9.65	ADIPOQ INS
21	negative regulation of macrophage derived foam cell differentiation	GO:0010745	9.65	ADIPOQ PPARG
22	positive regulation of protein kinase B signaling	GO:0051897	9.65	FGFR2 FGFR3 INS INSR LEP
23	amyloid-beta clearance	GO:0097242	9.64	IGF1R INSR
24	circadian rhythm	GO:0007623	9.63	ADIPOQ LEP
25	dendritic spine maintenance	GO:0097062	9.63	IGF1R INSR
26	neuron projection maintenance	GO:1990535	9.62	INS INSR
27	positive regulation of phospholipase activity	GO:0010518	9.61	FGFR2 FGFR3
28	negative regulation of apoptotic process	GO:0043066	9.61	IGF1R LEP
29	positive regulation of glucose import	GO:0046326	9.61	ADIPOQ INS INSR
30	endochondral bone growth	GO:0003416	9.6	FGFR2 FGFR3
31	negative regulation of acute inflammatory response	GO:0002674	9.59	INS PPARG
32	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.58	FGFR2 FGFR3
33	response to ethanol	GO:0045471	9.58	ADIPOQ FGFR2 LEP
34	positive regulation of respiratory burst	GO:0060267	9.57	INS INSR
35	regulation of protein localization to nucleus	GO:1900180	9.56	LEP LMNA
36	positive regulation of MAPK cascade	GO:0043410	9.55	FGFR2 FGFR3 INS INSR LEP
37	cell differentiation	GO:0030154	9.54	PPARG PRMT7
38	positive regulation of developmental growth	GO:0048639	9.51	INSR LEP
39	response to nutrient	GO:0007584	9.5	ADIPOQ LEP PPARG
40	positive regulation of cell proliferation	GO:0008284	9.5	FGFR2 FGFR3 IGF1R INS INSR LEP
41	positive regulation of protein complex disassembly	GO:0043243	9.49	IGF1R INSR
42	glucose homeostasis	GO:0042593	9.1	ADIPOQ IGF1R INS INSR LEP PPARG

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	9.56	FGFR2 FGFR3 IGF1R INSR
2	fibroblast growth factor binding	GO:0017134	9.52	FGFR2 FGFR3
3	insulin receptor binding	GO:0005158	9.51	IGF1R INS
4	phosphatidylinositol 3-kinase binding	GO:0043548	9.49	IGF1R INSR
5	alpha-actinin binding	GO:0051393	9.48	ALMS1 PPARG
6	insulin-like growth factor receptor binding	GO:0005159	9.46	INS INSR
7	insulin receptor substrate binding	GO:0043560	9.43	IGF1R INSR
8	insulin-like growth factor I binding	GO:0031994	9.4	IGF1R INSR
9	insulin binding	GO:0043559	9.37	IGF1R INSR
10	fibroblast growth factor-activated receptor activity	GO:0005007	9.32	FGFR2 FGFR3
11	hormone activity	GO:0005179	9.26	ADIPOQ INS LEP PRL
12	insulin-activated receptor activity	GO:0005009	9.16	IGF1R INSR
13	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.92	FGFR2 FGFR3 IGF1R INSR

Sources

Sources for Acanthosis Nigricans

¹ BioSystems

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia