AN
MCID: ACN002
MIFTS: 66

Acanthosis Nigricans (AN)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Acanthosis Nigricans

MalaCards integrated aliases for Acanthosis Nigricans:

Name: Acanthosis Nigricans 57 12 76 53 29 55 6 44 15 73
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:

OMIM 57 100600
Disease Ontology 12 DOID:3138
ICD10 33 L83
MeSH 44 D000052
NCIt 50 C26687
SNOMED-CT 68 72129000
MedGen 42 C0000889
SNOMED-CT via HPO 69 263681008 402599005
UMLS 73 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 Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and ovary, and related phenotypes are acanthosis nigricans and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is... more...

Description 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 10467)
# Related Disease Score Top Affiliating Genes
1 beare-stevenson cutis gyrata syndrome 33.5 FGFR3 FGFR2
2 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 32.2 INSR INS IGF1
3 lipodystrophy, familial partial, type 2 32.1 LMNA LEP INS
4 anorexia nervosa 32.0 PRL LEP IGF1 ADIPOQ
5 alstrom syndrome 32.0 LEP INS ALMS1
6 lipodystrophy, congenital generalized, type 1 31.6 LMNA LEP INS ADIPOQ
7 proteasome-associated autoinflammatory syndrome 1 30.9 PPARG INS ADIPOQ
8 hydrocephalus 30.9 PRL IGF1 FGFR3 FGFR2
9 exophthalmos 30.9 PRL FGFR3 FGFR2
10 atherosclerosis susceptibility 30.9 PPARG INS ADIPOQ
11 fatty liver disease 30.8 LEP INSR INS ADIPOQ
12 arteries, anomalies of 30.8 PPARG LEP INS ADIPOQ
13 hypertension, essential 30.8 LEP INSR INS ADIPOQ
14 plagiocephaly 30.8 FGFR3 FGFR2
15 empty sella syndrome 30.7 PRL IGF1
16 sleep apnea 30.7 LEP INS IGF1 ADIPOQ
17 hyperthyroidism 30.7 SHBG PRL LEP INS
18 familial partial lipodystrophy 30.7 PPARG LMNA LEP INS
19 arteriosclerosis 30.6 PPARG INS ADIPOQ
20 donohue syndrome 30.6 INSR INS IGF1R IGF1
21 nonalcoholic fatty liver disease 30.6 PPARG LEP INS ADIPOQ
22 lipid metabolism disorder 30.6 PPARG LEP INS ADIPOQ
23 3-hydroxyacyl-coa dehydrogenase deficiency 30.6 PPARG LEP INS ADIPOQ
24 secondary adrenal insufficiency 30.6 INS IGF1
25 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.5 LMNA INS ADIPOQ
26 mammographic density 30.5 PRL IGF1
27 hyperproinsulinemia 30.5 SHBG INS
28 chronic kidney failure 30.5 LEP INS IGF1 ADIPOQ
29 abdominal obesity-metabolic syndrome 1 30.5 PPARG LEP INS ADIPOQ
30 craniopharyngioma 30.5 PRL INS IGF1
31 pituitary gland disease 30.5 PRL INS IGF1
32 prediabetes syndrome 30.5 PPARG LEP INS ADIPOQ
33 osteoglophonic dysplasia 30.4 FGFR3 FGFR2
34 pancreas disease 30.4 LEP INS IGF1
35 hyperandrogenism 30.4 SHBG PRL INSR INS IGF1
36 pseudohypoparathyroidism, type ia 30.4 PRL IGF1
37 luteoma 30.3 FGFR3 FGFR2
38 fetal macrosomia 30.3 LEP INSR INS IGF1
39 acromegaly 30.3 PRL INS IGF1
40 estrogen excess 30.3 SHBG PRL
41 maturity-onset diabetes of the young, type 1 30.2 PPARG LEP INSR INS ADIPOQ
42 hyperglycemia 30.2 PPARG LEP INSR INS IGF1 ADIPOQ
43 lipodystrophy, congenital generalized, type 2 30.2 PPARG LMNA
44 hyperprolactinemia 30.2 SHBG PRL IGF1
45 jackson-weiss syndrome 30.1 FGFR3 FGFR2
46 nonalcoholic steatohepatitis 30.1 LEP INS ADIPOQ
47 amenorrhea 30.1 SHBG PRL LEP
48 osteoporosis 30.1 SHBG PPARG LEP INS IGF1 ADIPOQ
49 acquired generalized lipodystrophy 30.0 PPARG LMNA LEP INS ADIPOQ
50 morbid obesity 30.0 PPARG LEP INS ADIPOQ

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



Diseases related to Acanthosis Nigricans

Symptoms & Phenotypes for Acanthosis Nigricans

Symptoms via clinical synopsis from OMIM:

57
Skin:
benign acanthosis nigricans
thick hyperpigmented flexural area skin


Clinical features from OMIM:

100600

Human phenotypes related to Acanthosis Nigricans:

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

UMLS symptoms related to Acanthosis Nigricans:


pruritus

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

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.22 IGF1 LEP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.22 LEP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.22 IGF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.22 IGF1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.22 INSR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 10.22 IGF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.22 IGF1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.22 INSR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.22 SHBG
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.22 IGF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.22 IGF1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.22 IGF1 INSR LEP SHBG
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.22 LEP
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.22 IGF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.22 INSR
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.22 LEP
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.22 INSR
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.22 INSR
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.22 IGF1
20 Decreased viability GR00221-A-1 9.62 FGFR3 IGF1R INSR PPARG
21 Decreased viability GR00221-A-2 9.62 FGFR3 IGF1R INSR PPARG
22 Decreased viability GR00221-A-3 9.62 FGFR3 IGF1R INSR PPARG
23 Decreased viability GR00221-A-4 9.62 INSR PPARG
24 Decreased viability GR00301-A 9.62 IGF1R
25 Decreased viability GR00342-S-2 9.62 IGF1R
26 Decreased viability GR00402-S-2 9.62 FGFR3 IGF1R INSR PPARG
27 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.56 FGFR2 FGFR3 IGF1R INSR
28 Decreased substrate adherent cell growth GR00193-A-2 9.35 FGFR2
29 Decreased substrate adherent cell growth GR00193-A-3 9.35 FGFR2 FGFR3 INSR
30 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 top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
2 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
3
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
4
Enclomiphene Investigational Phase 3,Phase 2 15690-57-0
5 Estrogen Antagonists Phase 3,Phase 2
6 Hormones Phase 3,Phase 2
7 Estrogen Receptor Antagonists Phase 3,Phase 2
8 Zuclomiphene Phase 3,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
10 Steroid Synthesis Inhibitors Phase 3
11 Hormone Antagonists Phase 3,Phase 2
12 Selective Estrogen Receptor Modulators Phase 3,Phase 2
13 Estrogen Receptor Modulators Phase 3,Phase 2
14 Clomiphene Phase 3,Phase 2
15 Fertility Agents Phase 3,Phase 2
16 Aromatase Inhibitors Phase 3
17 Estrogens Phase 3,Phase 2
18 Insulin, Globin Zinc Phase 3,Phase 2
19 Autoantibodies Phase 3
20 insulin Phase 3,Phase 2
21
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
22
Spironolactone Approved Phase 2 52-01-7, 1952-01-7 5833
23
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
24 Diuretics, Potassium Sparing Phase 2
25 Mineralocorticoids Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 diuretics Phase 2
28 Mineralocorticoid Receptor Antagonists Phase 2
29 Natriuretic Agents Phase 2
30 Citrate Phase 2
31
Aripiprazole Approved, Investigational 129722-12-9 60795
32
Dopamine Approved 51-61-6, 62-31-7 681
33
Risperidone Approved, Investigational 106266-06-2 5073
34
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 65-23-6 1054
35
Melatonin Approved, Nutraceutical, Vet_approved Not Applicable 73-31-4 896
36 Vitamin B Complex Not Applicable
37 Calcium, Dietary Not Applicable
38 Vitamins Not Applicable
39 Protective Agents Not Applicable
40 Vitamin B 6 Not Applicable
41 Antioxidants Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Neurotransmitter Agents
44 Dopamine Antagonists
45 Serotonin Agents
46 Psychotropic Drugs
47 Dopamine Agents
48 Antipsychotic Agents
49 Tranquilizing Agents
50 Serotonin Antagonists

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

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, Lung, Ovary, Heart, Kidney, Bone, Breast

Publications for Acanthosis Nigricans

Articles related to Acanthosis Nigricans:

(show top 50) (show all 778)
# Title Authors Year
1
Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 29713841 )
2018
2
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. ( 29351036 )
2018
3
Hidradenitis suppurativa in a patient with hyperandrogenism, insulin-resistance and acanthosis nigricans (HAIR-AN syndrome). ( 29991979 )
2018
4
Correction to: Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 30054856 )
2018
5
Malignant Acanthosis nigricans associated with early diagnosis of liver cancer. ( 30066784 )
2018
6
Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus). ( 30117157 )
2018
7
Current treatment options for acanthosis nigricans. ( 30122971 )
2018
8
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients. ( 30168875 )
2018
9
Acanthosis nigricans in the knuckles: An early, accessible, straightforward, and sensitive clinical tool to predict insulin resistance. ( 30279953 )
2018
10
The Sign of Leser-Trelát and Malignant Acanthosis Nigricans Associated With Fallopian Tube Carcinoma. ( 30303917 )
2018
11
ASSOCIATION BETWEEN ACANTHOSIS NIGRICANS AND OTHER CARDIOMETABOLIC RISK FACTORS IN CHILDREN AND ADOLESCENTS WITH OVERWEIGHT AND OBESITY. ( 30365811 )
2018
12
Acanthosis nigricans in achondroplasia. ( 30380187 )
2018
13
Acanthosis nigricans at sites of insulin injection in a man with diabetes. ( 30478218 )
2018
14
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. ( 30487246 )
2018
15
Acanthosis nigricans and the metabolic syndrome. ( 29241752 )
2018
16
Melatonin Treatment Improves Insulin Resistance and Pigmentation in Obese Patients with Acanthosis Nigricans. ( 29706998 )
2018
17
Familial acanthosis nigricans with p.K650T FGFR3 mutation. ( 29068064 )
2018
18
Velvety Hyperpigmentation on Hands and Feet of a Young Girl: Acral Acanthosis Nigricans. ( 29865956 )
2018
19
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 )
2017
20
Image Gallery: Generalized mucosal and cutaneous papillomatosis, a unique sign of malignant acanthosis nigricans. ( 28504375 )
2017
21
The Clinical Characteristics of Obese Patients with Acanthosis Nigricans and Its Independent Risk Factors. ( 28081576 )
2017
22
A study of the association of acanthosis nigricans with subclinical atherosclerosis. ( 28164885 )
2017
23
Comment about the article: A<Association of metabolic syndrome with low birth weight, intake of high-calorie diets and acanthosis nigricans in children and adolescents with overweight and obesityA>. ( 29066311 )
2017
24
Facial Acanthosis Nigricans: A Morphological Marker of Metabolic Syndrome. ( 29263532 )
2017
25
Arterial stiffening, insulin resistance and acanthosis nigricans in a community sample of adolescents with obesity. ( 28465605 )
2017
26
Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans. ( 28930108 )
2017
27
Gastric Cancer Associated With Malignant Acanthosis Nigricans. ( 28317636 )
2017
28
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in<i>FGFR3</i>. ( 29026271 )
2017
29
Severe, Malignant Acanthosis Nigricans Associated with Adenocarcinoma of the Endometrium in a Young Obese Female. ( 28413386 )
2017
30
Prevalence of Acanthosis nigricans and Related Factors in Iranian Obese Children. ( 28892990 )
2017
31
Successful Repigmentation of Vitiligo-Like Hypopigmentation in a Case of Acanthosis Nigricans. ( 28392666 )
2017
32
Acanthosis Nigricans and Its Response to Metformin. ( 28758315 )
2017
33
Acanthosis nigricans: A screening test for insulin resistance - An important risk factor for diabetes mellitus type-2. ( 29026747 )
2017
34
Reply to the comment to our article titled: A<Association of metabolic syndrome with low birth weight of birth, intake hypercaloric diets and acanthosis nigricans in childhood and teens with overweight and obesityA>. ( 29179858 )
2017
35
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 )
2017
36
Acanthosis Nigricans ( 28613711 )
2017
37
Laparoscopic sleeve gastrectomy improves body composition and alleviates insulin resistance in obesity related acanthosis nigricans. ( 29115953 )
2017
38
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
39
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 )
2017
40
Paediatric obesity treatment had better outcomes when children were younger, well motivated and did not have acanthosis nigricans. ( 28685930 )
2017
41
Acanthosis nigricans in obese adolescents: prevalence, impact, and management challenges. ( 28031729 )
2017
42
The Associations of Serum Uric Acid with Obesity-Related Acanthosis nigricans and Related Metabolic Indices. ( 28367214 )
2017
43
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. ( 28663160 )
2017
44
Malignant acanthosis nigricans: an early diagnostic clue for gastric adenocarcinoma. ( 29178944 )
2017
45
Prevalence of obesity and acanthosis nigricans among young children in the children's healthy living program in the United States Affiliated Pacific. ( 27631218 )
2016
46
IMAGES IN CLINICAL MEDICINE. Acanthosis Nigricans and Insulin Resistance. ( 27305209 )
2016
47
ACANTHOSIS NIGRICANS AND SEVERE INSULIN RESISTANCE IN A BOY WITH ATAXIA. ( 27124696 )
2016
48
Acanthosis Nigricans associated with clear-cell renal cell carcinoma. ( 27284539 )
2016
49
Assessment of EGF receptor ligand expression in gastric carcinoma and in lesional skin of paraneoplastic acanthosis nigricans: a case report. ( 27987313 )
2016
50
Linear acanthosis nigricans on the anterior neck: Koebner phenomenon observed in a patient with acanthosis nigricans. ( 27569660 )
2016

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 GRCh38 Chromosome 16, 68355785: 68355785
2 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68389688: 68389688
3 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh38 Chromosome 16, 68329105: 68329105
4 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh37 Chromosome 16, 68363008: 68363008
5 FGFR3 NM_000142.4(FGFR3): c.1943A> C (p.Tyr648Ser) single nucleotide variant Likely pathogenic rs587779383 GRCh38 Chromosome 4, 1806157: 1806157
6 FGFR3 NM_000142.4(FGFR3): c.1943A> C (p.Tyr648Ser) single nucleotide variant Likely pathogenic rs587779383 GRCh37 Chromosome 4, 1807884: 1807884
7 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh38 Chromosome 4, 1806162: 1806162
8 FGFR3 NM_000142.4(FGFR3): c.1948A> C (p.Lys650Gln) single nucleotide variant Pathogenic rs78311289 GRCh37 Chromosome 4, 1807889: 1807889

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 FGFR2 FGFR3 IGF1R INS INSR LEP
2
Show member pathways
13.44 FGFR2 FGFR3 IGF1 IGF1R INS INSR
3
Show member pathways
12.97 FGFR2 FGFR3 IGF1 IGF1R INS INSR
4
Show member pathways
12.9 FGFR2 FGFR3 IGF1 IGF1R INSR
5
Show member pathways
12.84 FGFR2 FGFR3 IGF1 IGF1R INS INSR
6
Show member pathways
12.79 FGFR2 IGF1 IGF1R INS PPARG
7
Show member pathways
12.78 FGFR2 FGFR3 IGF1 IGF1R INSR
8 12.75 FGFR2 FGFR3 IGF1 IGF1R PPARG
9 12.65 FGFR2 FGFR3 IGF1 IGF1R INS INSR
10
Show member pathways
12.62 FGFR2 FGFR3 INS INSR
11
Show member pathways
12.61 FGFR2 FGFR3 IGF1 IGF1R INS INSR
12 12.46 ADIPOQ IGF1R INS INSR PPARG
13
Show member pathways
12.37 FGFR2 FGFR3 IGF1R INSR
14
Show member pathways
12.31 FGFR2 FGFR3 IGF1 IGF1R INSR
15
Show member pathways
12.26 FGFR2 FGFR3 IGF1 IGF1R INS INSR
16
Show member pathways
12.25 IGF1 IGF1R INSR PPARG
17
Show member pathways
12.18 FGFR2 FGFR3 IGF1 IGF1R
18
Show member pathways
12.11 FGFR2 FGFR3 IGF1R INSR LMNA
19 12.07 FGFR2 FGFR3 IGF1R INSR
20
Show member pathways
12.06 FGFR2 IGF1 IGF1R
21
Show member pathways
12.06 IGF1R INSR PPARG
22 12.04 FGFR2 FGFR3 IGF1 IGF1R
23 12.03 FGFR2 FGFR3 IGF1R INSR LMNA
24
Show member pathways
12.02 IGF1 IGF1R INS INSR
25
Show member pathways
11.94 IGF1R INS INSR
26 11.86 IGF1 IGF1R INS
27 11.85 IGF1 IGF1R INS INSR
28
Show member pathways
11.82 ADIPOQ INS INSR
29
Show member pathways
11.81 ADIPOQ IGF1 IGF1R INS INSR PPARG
30 11.66 FGFR2 FGFR3 IGF1 IGF1R INSR
31 11.62 FGFR3 IGF1 IGF1R
32
Show member pathways
11.58 ADIPOQ IGF1 IGF1R INS INSR LEP
33 11.55 ADIPOQ IGF1 INS LEP LMNA PPARG
34 11.43 INS INSR LEP PRL
35 11.4 IGF1 IGF1R INS INSR
36 11.35 IGF1 INS INSR
37 11.32 FGFR2 FGFR3 IGF1R INSR
38 11.31 FGFR2 FGFR3 IGF1 IGF1R INSR
39 11.13 ADIPOQ LEP PPARG
40 10.94 FGFR2 FGFR3 IGF1 IGF1R INSR
41 10.9 ADIPOQ INSR LEP PPARG

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

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.97 ADIPOQ IGF1 INS LEP PRL
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.96 FGFR2 FGFR3 IGF1R INSR
3 negative regulation of apoptotic process GO:0043066 9.95 FGFR2 FGFR3 IGF1 IGF1R INSR LEP
4 positive regulation of cell migration GO:0030335 9.93 IGF1 IGF1R INS INSR
5 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGFR2 FGFR3 IGF1R INSR
6 cellular response to insulin stimulus GO:0032869 9.86 ADIPOQ INSR PPARG
7 protein autophosphorylation GO:0046777 9.86 FGFR2 FGFR3 IGF1R INSR
8 circadian rhythm GO:0007623 9.85 ADIPOQ LEP PRL
9 insulin receptor signaling pathway GO:0008286 9.85 IGF1R INS INSR
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.83 IGF1 INS LEP
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 FGFR3 IGF1 LEP
12 cellular response to retinoic acid GO:0071300 9.83 FGFR2 LEP PPARG
13 negative regulation of signal transduction GO:0009968 9.83 FGFR2 FGFR3 IGF1R INSR
14 glucose metabolic process GO:0006006 9.8 ADIPOQ INS LEP
15 positive regulation of epithelial cell proliferation GO:0050679 9.8 FGFR2 IGF1 PRL
16 response to ethanol GO:0045471 9.8 ADIPOQ FGFR2 LEP PRL
17 response to nutrient levels GO:0031667 9.78 ADIPOQ LEP PRL
18 positive regulation of cold-induced thermogenesis GO:0120162 9.76 ADIPOQ ALMS1 IGF1R LEP
19 positive regulation of cell proliferation GO:0008284 9.76 FGFR2 FGFR3 IGF1 IGF1R INS INSR
20 activation of protein kinase B activity GO:0032148 9.72 IGF1 INS INSR
21 positive regulation of protein kinase B signaling GO:0051897 9.72 FGFR2 FGFR3 INS INSR LEP
22 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.71 IGF1 LMNA
23 regulation of multicellular organism growth GO:0040014 9.71 FGFR2 IGF1 PRL
24 response to nutrient GO:0007584 9.71 ADIPOQ LEP PPARG PRL
25 positive regulation of cellular protein metabolic process GO:0032270 9.7 ADIPOQ INS
26 positive regulation of insulin receptor signaling pathway GO:0046628 9.7 INS LEP
27 regulation of fat cell differentiation GO:0045598 9.7 LEP PPARG
28 fatty acid oxidation GO:0019395 9.7 ADIPOQ PPARG
29 negative regulation of gluconeogenesis GO:0045721 9.69 ADIPOQ INS
30 insulin-like growth factor receptor signaling pathway GO:0048009 9.69 IGF1 IGF1R
31 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.69 ADIPOQ PPARG
32 positive regulation of mitotic nuclear division GO:0045840 9.69 IGF1 INS INSR
33 amyloid-beta clearance GO:0097242 9.68 IGF1R INSR
34 dendritic spine maintenance GO:0097062 9.68 IGF1R INSR
35 neuron projection maintenance GO:1990535 9.67 INS INSR
36 positive regulation of phospholipase activity GO:0010518 9.67 FGFR2 FGFR3
37 endochondral bone growth GO:0003416 9.65 FGFR2 FGFR3
38 negative regulation of acute inflammatory response GO:0002674 9.64 INS PPARG
39 positive regulation of respiratory burst GO:0060267 9.62 INS INSR
40 regulation of protein localization to nucleus GO:1900180 9.61 LEP LMNA
41 positive regulation of glycolytic process GO:0045821 9.61 IGF1 INS INSR
42 bone mineralization involved in bone maturation GO:0035630 9.6 IGF1 LEP
43 positive regulation of developmental growth GO:0048639 9.59 INSR LEP
44 positive regulation of protein complex disassembly GO:0043243 9.58 IGF1R INSR
45 positive regulation of glucose import GO:0046326 9.56 ADIPOQ IGF1 INS INSR
46 positive regulation of glycogen biosynthetic process GO:0045725 9.54 IGF1 INS INSR
47 positive regulation of MAPK cascade GO:0043410 9.43 FGFR2 FGFR3 IGF1 INS INSR LEP
48 glucose homeostasis GO:0042593 9.1 ADIPOQ IGF1R INS INSR LEP PPARG
49 cell differentiation GO:0030154 10.11 FGFR2 FGFR3 IGF1R INSR PPARG PRMT7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.76 FGFR2 FGFR3 IGF1R INSR
2 protein tyrosine kinase activity GO:0004713 9.67 FGFR2 FGFR3 IGF1R INSR
3 fibroblast growth factor binding GO:0017134 9.54 FGFR2 FGFR3
4 phosphatidylinositol 3-kinase binding GO:0043548 9.52 IGF1R INSR
5 alpha-actinin binding GO:0051393 9.51 ALMS1 PPARG
6 insulin receptor substrate binding GO:0043560 9.49 IGF1R INSR
7 insulin-like growth factor I binding GO:0031994 9.48 IGF1R INSR
8 insulin binding GO:0043559 9.43 IGF1R INSR
9 insulin receptor binding GO:0005158 9.43 IGF1 IGF1R INS
10 fibroblast growth factor-activated receptor activity GO:0005007 9.4 FGFR2 FGFR3
11 insulin-like growth factor receptor binding GO:0005159 9.33 IGF1 INS INSR
12 insulin-activated receptor activity GO:0005009 9.32 IGF1R INSR
13 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 FGFR2 FGFR3 IGF1R INSR
14 hormone activity GO:0005179 9.02 ADIPOQ IGF1 INS LEP PRL

Sources for Acanthosis Nigricans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....