AN
MCID: ACN002
MIFTS: 69

Acanthosis Nigricans (AN) malady

Rare diseases, Skin diseases categories
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Summaries for Acanthosis Nigricans

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Acanthosis nigricans 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. these symptoms are more common in people with cancer. the exact cause of this condition is not well understood; but it can be genetically inherited or related to medical problems such as obesity, some prescription drugs, and cancer. last updated: 7/25/2011

MalaCards: Acanthosis Nigricans, also known as an - acanthosis nigricans, is related to insulin resistance and obesity, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, autosomal dominant inheritance and insulin-independent/type 2 diabetes. An important gene associated with Acanthosis Nigricans is INSR (insulin receptor), and among its related pathways are VEGF Signaling Pathway and Sorafenib Pharmacodynamics. The compounds su 5402 and fiin 1 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and lung, and related mouse phenotypes are adipose tissue and renal/urinary system.

Wikipedia:65 Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is... more...

Description from OMIM:47 200170,100600

Aliases & Classifications for Acanthosis Nigricans

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
acanthosis nigricans:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

acanthosis nigricans 8 43 10 45 49 47 62
an - acanthosis nigricans 8
keratosis nigricans 8
an 43


External Ids:

Disease Ontology8 DOID:3138
NCIt40 C26687
MeSH35 D000052
MESH via Orphanet36 D000052
SNOMED-CT58 402599005, 72129000
ICD10 via Orphanet26 L83
SNOMED-CT via Orphanet59 402599005
UMLS via Orphanet63 C0000889
ICD1025 L83

Related Diseases for Acanthosis Nigricans

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Acanthosis Nigricans via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 6759)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance31.7INSR, CYP21A2, INS
2obesity31.4CYP21A2, INS, INSR
3crouzon syndrome31.2FGFR3, FGFR2
4hyperandrogenism31.2INSR, CYP21A2, INS
5adenocarcinoma31.1FGFR2, INSR, CYP21A2
6breast cancer31.1INSR, CYP21A2, FGFR3, FGFR2, INS
7adenoma31.0INSR, INS, CYP21A2
8prostate cancer31.0INSR, FGFR2, FGFR3
9achondroplasia31.0FGFR3, FGFR2
10alzheimer's disease30.9FGFR3, INS, INSR
11polycystic ovary syndrome30.9INSR, CYP21A2, INS
12colorectal cancer30.9INSR, FGFR2, FGFR3
13hypochondroplasia30.7FGFR2, FGFR3
14skeletal dysplasias30.7FGFR2, FGFR3
15beare-stevenson cutis gyrata syndrome30.6FGFR2
16retinoblastoma30.6INSR, FGFR2, FGFR3
17infertility30.6INS, CYP21A2
18hypoglycemia30.6INS, INSR
19cushing's syndrome30.5INS, CYP21A2
20chondrosarcoma30.5FGFR2, FGFR3
21rabson-mendenhall syndrome30.5INSR, INS
22hypercholesterolemia30.5INS, INSR
23craniosynostosis30.5FGFR2, FGFR3
24syndactyly30.5FGFR3, FGFR2
25gestational diabetes30.5INSR, INS
26lipodystrophy30.5INSR, INS
27transitional cell carcinoma30.5FGFR2, FGFR3
28essential hypertension30.5INSR, INS
29diabetic retinopathy30.5INS, INSR
30hyperthyroidism30.4INSR, INS
31hepatocellular carcinoma30.4INSR, INS, FGFR2
32type 2 diabetes mellitus30.4CYP21A2, INSR, INS
33cholera30.4INSR, INS
34melanoma30.4FGFR3, FGFR2, INSR
35infectious mononucleosis30.4FGFR2, FGFR3
36dwarfism30.3FGFR3, FGFR2
37thanatophoric dysplasia30.3FGFR2, FGFR3
38congenital generalized lipodystrophy type 230.3INS, INSR
39hyperinsulinism30.3INS, INSR
40hypertriglyceridemia30.3INS, INSR
41insulinoma30.3INS, INSR
42developmental disabilities30.3FGFR2, FGFR3
43strabismus30.3FGFR3, FGFR2
44hypopituitarism30.2CYP21A2, INS
45hypospadias30.2CYP21A2, FGFR2
46fatty liver disease30.2INS, INSR
47primary hyperoxaluria30.2INS, INSR, FGFR2
48bladder carcinoma30.2FGFR2, FGFR3
49short stature30.2INS, CYP21A2, FGFR3
50type 1 diabetes mellitus30.1CYP21A2, INS, INSR

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



Diseases related to acanthosis nigricans

Symptoms for Acanthosis Nigricans

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

100600

Clinical features from OMIM:

200170,100600

Symptoms:

49 (show all 8)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • insulin-independent/type 2 diabetes
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • hirsutism/hypertrichosis/increased body hair
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • generalized obesity

Drugs & Therapeutics for Acanthosis Nigricans

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Acanthosis Nigricans

Search NIH Clinical Center for Acanthosis Nigricans

Genetic Tests for Acanthosis Nigricans

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Anatomical Context for Acanthosis Nigricans

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Sources:
33MalaCards
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MalaCards organs/tissues related to Acanthosis Nigricans:

33
Skin, Ovary, Lung, Liver, Thyroid, Lymph node, Bone marrow, Heart, Skeletal muscle, Breast, Myeloid, B cells, Prostate, Cervix, Kidney, Bone

Animal Models for Acanthosis Nigricans or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Acanthosis Nigricans:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0FGFR2, INSR, INS
2MP:00053678.6INSR, FGFR2, FGFR3, INS
3MP:00053818.5INS, INSR, FGFR2, FGFR3
4MP:00053898.5FGFR3, FGFR2, INSR, INS
5MP:00053978.4FGFR3, INS, INSR, FGFR2
6MP:00053868.4INSR, FGFR2, FGFR3, INS
7MP:00036318.4FGFR3, FGFR2, INSR, INS
8MP:00053878.3INS, INSR, FGFR2, FGFR3
9MP:00053848.1FGFR3, FGFR2, INSR, INS

Publications for Acanthosis Nigricans

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Sources:
52PubMed
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Articles related to Acanthosis Nigricans:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Paraneoplastic acanthosis nigricans maligna. (24353797)
2013
2
Generalised Acanthosis Nigricans in Childhood with Short Stature Associated with Poor Response to Growth Hormone Provocation. (24285118)
2013
3
Coexistence of insulin-derived amyloidosis and an overlying acanthosis nigricans-like lesion at the site of insulin injection. (22924529)
2013
4
Is acanthosis nigricans a reliable indicator for risk of type 2 diabetes in obese children and adolescents? A systematic review. (22179051)
2012
5
Atypical presentation of acanthosis nigricans. (23226673)
2012
6
Prevalence of Acanthosis Nigricans in an urban population in Sri Lanka and its utility to detect metabolic syndrome. (21276250)
2011
7
Critical comparison of diffuse reflectance spectroscopy and colorimetry as dermatological diagnostic tools for acanthosis nigricans: a chemometric approach. (21698027)
2011
8
Malignant acanthosis nigricans in rectal adenocarcinoma. (21980718)
2011
9
Palliative treatment of paraneoplastic acanthosis nigricans and oral florid papillomatosis with retinoids. (20865850)
2010
10
This is linear verrucous epidermal nevus, not acanthosis nigricans. (20036800)
2010
11
The involvement of insulin receptor genotypes in pre- and co-obese acanthosis Nigricans children and adolescent. (20857837)
2010
12
Significance of acanthosis nigricans in childhood obesity. (18476925)
2008
13
Acanthosis nigricans: a practical approach to evaluation and management. (19061584)
2008
14
Florid cutaneous papillomatosis with acanthosis nigricans in a patient with carcinomas of the lung and prostate. (17939948)
2007
15
Confluent and reticulated papillomatosis and acanthosis nigricans in an obese girl: two distinct pathologies with a common pathogenetic pathway or a unique entity dependent on insulin resistance? (16643163)
2006
16
Acanthosis nigricans as an adverse effect of highly active antiretroviral therapy in an adolescent girl with human immunodeficiency virus infection. (16094236)
2005
17
Eyelid involvement in acanthosis nigricans: the importance of systemic screening. (16234716)
2005
18
Facial acanthosis nigricans associated with obesity. (15953092)
2005
19
Prevalence of acanthosis nigricans in newly-diagnosed type 2 diabetes. (15256325)
2004
20
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
21
Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome). (15456556)
2004
22
Acanthosis nigricans is a reliable cutaneous marker of insulin resistance in obese Japanese children. (14651545)
2003
23
Association of acanthosis nigricans with race and metabolic disturbances in obese women. (11743615)
2002
24
Tripe palms and malignant acanthosis nigricans: cutaneous signs of imminent metastasis in bladder cancer? (11342938)
2001
25
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
26
Acanthosis nigricans. (10212845)
1998
27
A case of acanthosis nigricans in obese siblings with a pedigree of familial polyposis coli. (9330076)
1997
28
Malignant acanthosis nigricans and tripe palms in a patient with endometrial adenocarcinoma--a case report and review of literature. (9190991)
1997
29
Insulin receptor defects in the erythrocytes of obese Indian women with Acanthosis Nigricans. (9352137)
1997
30
Crouzon disease with acanthosis nigricans and melanocytic nevi. (8919518)
1996
31
Childhood acanthosis nigricans. (7648884)
1995
32
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (7493034)
1995
33
Acanthosis nigricans. (8021347)
1994
34
Case report: defective beta and alpha cell regulation in patients with hyperinsulinemia and acanthosis nigricans. (8172227)
1994
35
Malignant acanthosis nigricans associated with a renal tumor. (8125695)
1993
36
Acanthosis nigricans and a rectal carcinoid. (1894773)
1991
37
Association of specific histocompatibility antigens and acanthosis nigricans with insulin resistance. (2101060)
1990
38
Medical therapy for the syndrome of familial virilization, insulin resistance, and acanthosis nigricans. (2137793)
1990
39
Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. (2751068)
1989
40
Oral acanthosis nigricans: report of a case and comparison of oral and cutaneous pathology. (3177823)
1988
41
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 22-1988. A 13-year-old girl with secondary amenorrhea, obesity, acanthosis nigricans, and hirsutism. (3367952)
1988
42
Elevated serum dehydroepiandrosterone sulfate levels in patients with insulin resistance, hirsutism, and acanthosis nigricans. (2950000)
1987
43
Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia. (3305551)
1987
44
Clinical, biochemical, and ovarian morphologic features in women with acanthosis nigricans and masculinization. (3900841)
1985
45
Ovarian pathology associated with insulin resistance and acanthosis nigricans. (7301247)
1981
46
Insulin-resistant diabetes mellitus and insulin receptor antibodies: variable association with acanthosis nigricans. (7287512)
1980
47
Characterization of insulin receptors in patients with the syndromes of insulin resistance and acanthosis nigricans. (6989695)
1980
48
Steroid-induced acanthosis nigricans in dermatomyositis. (443833)
1979
49
Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect. (400728)
1978
50
Cutaneous manifestation of internal malignancies (I). Acanthosis nigricans. (659033)
1978

Variations for Acanthosis Nigricans

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Expression for genes affiliated with Acanthosis Nigricans

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Acanthosis Nigricans

Search GEO for disease gene expression data for Acanthosis Nigricans.

Pathways for genes affiliated with Acanthosis Nigricans

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Sources:
50PathCards, 51PharmGKB, 57SinoBiological, 61Tocris Bioscience, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database, 5Cell Signaling Technology, 30KEGG, 12EMD Millipore, 53QIAGEN, 54R&D Systems
See all sources

Pathways related to Acanthosis Nigricans according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGFR2, FGFR3
2
Show member pathways
9.4FGFR2, FGFR3
3
Show member pathways
9.4FGFR2, FGFR3
4
Show member pathways
9.4FGFR2, FGFR3
59.4FGFR3, FGFR2
69.4FGFR3, FGFR2
7
Show member pathways
9.4INSR, INS
89.4INSR, INS
99.4INS, INSR
10
Show member pathways
9.4INS, INSR
11
Show member pathways
Insulin Pathway38
9.4INSR, INS
129.4INSR, INS
13
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
9.4INSR, INS
14
Show member pathways
9.4INSR, INS
159.4INS, INSR
169.4INS, INSR
17
Show member pathways
9.4INSR, INS
18
Show member pathways
thioredoxin pathway38
9.4INS, INSR
199.4INSR, INS
209.4INS, INSR
219.4INS, INSR
229.4INS, INSR
23
Show member pathways
9.0INSR, FGFR2, FGFR3
24
Show member pathways
9.0INSR, FGFR3, FGFR2
25
Show member pathways
9.0FGFR3, FGFR2, INSR
269.0FGFR2, INSR, FGFR3
279.0INSR, FGFR3, FGFR2
289.0INSR, FGFR3, FGFR2
29
Show member pathways
9.0FGFR2, INSR, FGFR3
30
Show member pathways
9.0INSR, FGFR3, FGFR2
31
Show member pathways
9.0INSR, FGFR3, FGFR2
32
Show member pathways
9.0FGFR3, INSR, FGFR2
33
Show member pathways
9.0FGFR2, INSR, FGFR3
34
Show member pathways
8.8FGFR3, FGFR2, INS
35
Show member pathways
Signaling Pathways in Glioblastoma38
8.8INS, FGFR3, FGFR2
36
Show member pathways
8.4FGFR3, FGFR2, INS, INSR
378.4INS, INSR, FGFR2, FGFR3
38
Show member pathways
8.4INSR, FGFR2, FGFR3, INS
39
Show member pathways
8.4INS, FGFR3, FGFR2, INSR
40
Show member pathways
8.4INSR, FGFR3, INS, FGFR2
41
Show member pathways
8.4FGFR2, INS, INSR, FGFR3
42
Show member pathways
8.4INSR, FGFR2, INS, FGFR3
43
Show member pathways
8.4FGFR3, INS, INSR, FGFR2

Compounds for genes affiliated with Acanthosis Nigricans

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Sources:
61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Acanthosis Nigricans according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1su 5402619.9FGFR2, FGFR3
2fiin 1 hydrochloride619.9FGFR3, FGFR2
3pd 161570619.9FGFR3, FGFR2
4su5402459.9FGFR3, FGFR2
5pd 17307445 6110.8FGFR3, FGFR2
6poly(glu(80)tyr(20))459.8INS, INSR
7palifermin45 1110.8FGFR2, FGFR3
8chromium picolinate459.8INSR, INS
9mecasermin45 1110.8INSR, INS
10vanadyl sulfate459.8INS, INSR
11preproinsulin459.8INS, INSR
12moxonidine459.8INSR, INS
13ponatinib51 1110.8FGFR3, FGFR2
14gliclazide45 51 1111.7INSR, INS
15glimepiride45 51 1111.7INSR, INS
16aicar45 24 1111.7INS, INSR
17alpha lipoic acid459.7INS, INSR
18streptozotocin459.7INS, INSR
19fenofibrate45 51 1111.6INSR, INS
20glibenclamide45 29 51 6112.6INS, INSR
212-deoxyglucose45 1110.6INSR, INS
22octreotide45 61 29 1112.5INSR, INS
23metformin45 51 1111.5INSR, INS
24thalidomide45 51 61 1112.4FGFR3, FGFR2
25pioglitazone29 45 51 1112.4INSR, INS
26deoxyribonucleic acid459.4CYP21A2, FGFR2
27cortisone45 2410.4CYP21A2, INS
28phenylalanine459.3FGFR3, INSR, FGFR2
29phosphotyrosine459.3FGFR2, INSR, FGFR3
30dehydroepiandrosterone sulfate459.3CYP21A2, INS
31rapamycin459.2INSR, INS, FGFR2
32dhea459.1CYP21A2, INS
33clomiphene citrate459.0CYP21A2, INS, INSR
34c-peptide459.0INS, INSR, CYP21A2
35hydrocortisone45 3 61 1112.0INSR, CYP21A2, INS
36genistein45 29 61 3 24 1114.0CYP21A2, INSR, FGFR2
37thyroxine45 2410.0CYP21A2, INSR, INS
38androstenedione45 249.7INS, CYP21A2
39threonine458.5FGFR3, CYP21A2, INSR, FGFR2
40oligonucleotide458.5FGFR2, CYP21A2, FGFR3
41epinephrine45 24 1110.5INS, INSR, FGFR2, CYP21A2
42testosterone45 61 24 1111.5CYP21A2, FGFR2, INSR, INS
43dexamethasone45 51 29 1111.4CYP21A2, INSR, FGFR3, INS
44estrogen458.4FGFR2, INS, CYP21A2, INSR
45glucose458.4INS, INSR, FGFR2, CYP21A2
46arginine458.0FGFR3, INSR, INS, CYP21A2, FGFR2
47glutamate458.0FGFR3, CYP21A2, INS, INSR, FGFR2
48lipid458.0INS, CYP21A2, INSR, FGFR2, FGFR3
49serine458.0INS, INSR, FGFR2, FGFR3, CYP21A2
50tyrosine458.0FGFR3, FGFR2, CYP21A2, INSR, INS

GO Terms for genes affiliated with Acanthosis Nigricans

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16Gene Ontology
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Cellular components related to Acanthosis Nigricans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.4FGFR3, FGFR2

Biological processes related to Acanthosis Nigricans according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:0105189.8FGFR2, FGFR3
2lens fiber cell developmentGO:0703079.8FGFR3, FGFR2
3negative regulation of mitosisGO:0458399.8FGFR2, FGFR3
4positive regulation of respiratory burstGO:0602679.7INSR, INS
5positive regulation of glycolytic processGO:0458219.7INS, INSR
6bone morphogenesisGO:0603499.7FGFR2, FGFR3
7positive regulation of glycogen biosynthetic processGO:0457259.7INS, INSR
8activation of protein kinase B activityGO:0321489.7INSR, INS
9positive regulation of glucose importGO:0463269.7INSR, INS
10positive regulation of mitosisGO:0458409.6INS, INSR
11positive regulation of nitric oxide biosynthetic processGO:0454299.6INS, INSR
12negative regulation of epithelial cell proliferationGO:0506809.6FGFR2, FGFR3
13positive regulation of DNA replicationGO:0457409.6INS, INSR
14positive regulation of cell differentiationGO:0455979.6INS, FGFR3
15positive regulation of canonical Wnt signaling pathwayGO:0902639.6FGFR3, FGFR2
16positive regulation of protein kinase B signalingGO:0518979.5INSR, INS
17MAPK cascadeGO:0001659.4INS, FGFR3
18phosphatidylinositol-mediated signalingGO:0480159.4FGFR3, FGFR2
19glucose homeostasisGO:0425939.4INS, INSR
20peptidyl-tyrosine phosphorylationGO:0181089.3INSR, FGFR2, FGFR3
21positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGFR2
22protein autophosphorylationGO:0467779.3INSR, FGFR3, FGFR2
23cell-cell signalingGO:0072679.1FGFR2, FGFR3, INS
24positive regulation of cell migrationGO:0303359.1INSR, INS
25positive regulation of MAPK cascadeGO:0434108.7FGFR3, FGFR2, INSR, INS
26insulin receptor signaling pathwayGO:0082868.7INS, INSR, FGFR2, FGFR3
27positive regulation of cell proliferationGO:0082848.7INS, INSR, FGFR3, FGFR2

Molecular functions related to Acanthosis Nigricans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:0171349.4FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050079.3FGFR3, FGFR2
3insulin-like growth factor receptor bindingGO:0051599.1INSR, INS
4protein tyrosine kinase activityGO:0047139.0FGFR3, FGFR2, INSR

Products for genes affiliated with Acanthosis Nigricans

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Sources for Acanthosis Nigricans

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet