MCID: ACN002
MIFTS: 64

Acanthosis Nigricans

Categories: Rare diseases, Skin diseases

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:



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
UMLS 74 C0000889

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

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:



Diseases related to Acanthosis Nigricans

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

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
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 Selective Estrogen Receptor Modulators Phase 3,Phase 2
6 Hormone Antagonists Phase 3,Phase 2
7 Fertility Agents Phase 3,Phase 2
8 Estrogens Phase 3,Phase 2
9 Estrogen Receptor Modulators Phase 3,Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
11 Zuclomiphene Phase 3,Phase 2
12 Aromatase Inhibitors Phase 3
13 Estrogen Receptor Antagonists Phase 3,Phase 2
14 Clomiphene Phase 3,Phase 2
15 Estrogen Antagonists Phase 3,Phase 2
16 Hormones Phase 3,Phase 2
17 Steroid Synthesis Inhibitors Phase 3
18 Autoantibodies Phase 3
19 insulin Phase 3,Phase 2
20 Insulin, Globin Zinc Phase 3,Phase 2
21
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
22
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
23
Sodium Citrate Approved, Investigational Phase 2 68-04-2
24
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
25 Antineoplastic Agents, Hormonal Phase 2
26 Diuretics, Potassium Sparing Phase 2
27 diuretics Phase 2
28 Mineralocorticoids Phase 2
29 Natriuretic Agents Phase 2
30 Mineralocorticoid Receptor Antagonists Phase 2
31 Citrate Phase 2
32
Risperidone Approved, Investigational 106266-06-2 5073
33
Dopamine Approved 62-31-7, 51-61-6 681
34
Aripiprazole Approved, Investigational 129722-12-9 60795
35
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 65-23-6 1054
36
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
37
Melatonin Approved, Nutraceutical, Vet_approved Not Applicable 73-31-4 896
38 Calcium, Dietary Not Applicable
39 Vitamin B 6 Not Applicable
40 Protective Agents Not Applicable
41 Antioxidants Not Applicable
42 Central Nervous System Depressants Not Applicable
43 Vitamin B Complex Not Applicable
44 Vitamins Not Applicable
45 Serotonin Agents
46 Serotonin Antagonists
47 Neurotransmitter Agents
48 Psychotropic Drugs
49 Serotonin 5-HT1 Receptor Agonists
50 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

Genetic Tests for Acanthosis Nigricans

Genetic tests related to Acanthosis Nigricans:

# Genetic test Affiliating Genes
1 Acanthosis Nigricans 30

Anatomical Context for Acanthosis Nigricans

MalaCards organs/tissues related to Acanthosis Nigricans:

42
Skin, Bone, Breast, Brain, Heart, Kidney, Lung

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 )
2019
2
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. ( 30487246 )
2019
3
Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review. ( 30635042 )
2019
4
Correction to: Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 30680537 )
2019
5
Changes in inflammatory markers correlated with increased testosterone after laparoscopic sleeve gastrectomy in obese Chinese men with acanthosis nigricans. ( 30724385 )
2019
6
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. ( 30762251 )
2019
7
Case presentation of acanthosis nigricans diagnosed with gastric adenocarcinoma. ( 30836438 )
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 )
2019
9
Acanthosis nigricans: To be or not to be afraid. ( 30944606 )
2019
10
Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans. ( 30983034 )
2019
11
Effectiveness and Safety of Metformin versus Canthex™ in Patients with Acanthosis Nigricans: A Randomized, Double-blind Controlled Trial. ( 30983607 )
2019
12
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. ( 31016899 )
2019
13
Familial acanthosis nigricans with p.K650T FGFR3 mutation. ( 29068064 )
2018
14
Acanthosis nigricans and the metabolic syndrome. ( 29241752 )
2018
15
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. ( 29351036 )
2018
16
Melatonin Treatment Improves Insulin Resistance and Pigmentation in Obese Patients with Acanthosis Nigricans. ( 29706998 )
2018
17
Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 29713841 )
2018
18
Velvety Hyperpigmentation on Hands and Feet of a Young Girl: Acral Acanthosis Nigricans. ( 29865956 )
2018
19
Hidradenitis suppurativa in a patient with hyperandrogenism, insulin-resistance and acanthosis nigricans (HAIR-AN syndrome). ( 29991979 )
2018
20
Correction to: Comparative study using fractional carbon dioxide laser versus glycolic acid peel in treatment of pseudo-acanthosis nigricans. ( 30054856 )
2018
21
Malignant Acanthosis nigricans associated with early diagnosis of liver cancer. ( 30066784 )
2018
22
Current treatment options for acanthosis nigricans. ( 30122971 )
2018
23
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients. ( 30168875 )
2018
24
Acanthosis nigricans in the knuckles: An early, accessible, straightforward, and sensitive clinical tool to predict insulin resistance. ( 30279953 )
2018
25
The Sign of Leser-Trelát and Malignant Acanthosis Nigricans Associated With Fallopian Tube Carcinoma. ( 30303917 )
2018
26
ASSOCIATION BETWEEN ACANTHOSIS NIGRICANS AND OTHER CARDIOMETABOLIC RISK FACTORS IN CHILDREN AND ADOLESCENTS WITH OVERWEIGHT AND OBESITY. ( 30365811 )
2018
27
Acanthosis nigricans in achondroplasia. ( 30380187 )
2018
28
Acanthosis nigricans at sites of insulin injection in a man with diabetes. ( 30478218 )
2018
29
Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations. ( 30580445 )
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 )
2018
31
Acanthosis nigricans in obese adolescents: prevalence, impact, and management challenges. ( 28031729 )
2017
32
The Clinical Characteristics of Obese Patients with Acanthosis Nigricans and Its Independent Risk Factors. ( 28081576 )
2017
33
A study of the association of acanthosis nigricans with subclinical atherosclerosis. ( 28164885 )
2017
34
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
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 )
2017
36
Gastric Cancer Associated With Malignant Acanthosis Nigricans. ( 28317636 )
2017
37
The Associations of Serum Uric Acid with Obesity-Related Acanthosis nigricans and Related Metabolic Indices. ( 28367214 )
2017
38
Successful Repigmentation of Vitiligo-Like Hypopigmentation in a Case of Acanthosis Nigricans. ( 28392666 )
2017
39
Severe, Malignant Acanthosis Nigricans Associated with Adenocarcinoma of the Endometrium in a Young Obese Female. ( 28413386 )
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 )
2017
41
Arterial stiffening, insulin resistance and acanthosis nigricans in a community sample of adolescents with obesity. ( 28465605 )
2017
42
Image Gallery: Generalized mucosal and cutaneous papillomatosis, a unique sign of malignant acanthosis nigricans. ( 28504375 )
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 )
2017
44
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. ( 28663160 )
2017
45
Paediatric obesity treatment had better outcomes when children were younger, well motivated and did not have acanthosis nigricans. ( 28685930 )
2017
46
Acanthosis Nigricans and Its Response to Metformin. ( 28758315 )
2017
47
Prevalence of Acanthosis nigricans and Related Factors in Iranian Obese Children. ( 28892990 )
2017
48
Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans. ( 28930108 )
2017
49
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3. ( 29026271 )
2017
50
Acanthosis nigricans: A screening test for insulin resistance - An important risk factor for diabetes mellitus type-2. ( 29026747 )
2017

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

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 FGFR2 FGFR3 IGF1R INS INSR LEP
2
Show member pathways
13.34 ADIPOQ FGFR2 FGFR3 INS LEP PPARG
3
Show member pathways
12.89 FGFR2 FGFR3 IGF1R INS INSR
4
Show member pathways
12.82 FGFR2 FGFR3 IGF1R INS INSR PRL
5
Show member pathways
12.62 ADIPOQ INS INSR LEP
6 12.62 FGFR2 FGFR3 IGF1R INS INSR
7
Show member pathways
12.58 FGFR2 FGFR3 IGF1R INS INSR
8
Show member pathways
12.57 FGFR2 FGFR3 INS INSR
9 12.38 ADIPOQ IGF1R INS INSR PPARG
10
Show member pathways
12.32 FGFR2 FGFR3 IGF1R INS INSR
11
Show member pathways
12.29 FGFR2 FGFR3 IGF1R INSR
12
Show member pathways
12.24 FGFR2 FGFR3 IGF1R INSR
13
Show member pathways
12.07 INS INSR LEP
14
Show member pathways
12.02 IGF1R INSR PPARG
15
Show member pathways
12.02 FGFR2 FGFR3 IGF1R INSR LMNA
16 12 FGFR2 FGFR3 IGF1R INSR
17 11.96 FGFR2 FGFR3 IGF1R INSR LMNA
18 11.95 FGFR2 FGFR3 IGF1R
19
Show member pathways
11.94 IGF1R INS INSR
20
Show member pathways
11.9 ADIPOQ IGF1R INS INSR PPARG
21
Show member pathways
11.88 IGF1R INS INSR
22
Show member pathways
11.85 ADIPOQ IGF1R INS INSR LEP PPARG
23 11.77 IGF1R INS INSR
24
Show member pathways
11.75 ADIPOQ INS INSR
25 11.67 ADIPOQ INS LEP LMNA PPARG
26 11.58 FGFR2 FGFR3 IGF1R INSR
27 11.41 IGF1R INS INSR
28 11.37 INS INSR LEP PRL
29 11.26 FGFR2 FGFR3 IGF1R INSR
30 11.21 FGFR2 FGFR3 IGF1R INSR
31 11.12 INS INSR
32 11.05 ADIPOQ LEP PPARG
33 10.27 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 9.8 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 for Acanthosis Nigricans

3 CDC
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10 dbSNP
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17 EFO
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75 UMLS via Orphanet
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