AN
MCID: ACN002
MIFTS: 63

Acanthosis Nigricans (AN) malady

Rare diseases, Skin diseases categories
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Summaries for Acanthosis Nigricans

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NIH Rare Diseases:42 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. last updated: 8/18/2014

MalaCards based summary: Acanthosis Nigricans, also known as an - acanthosis nigricans, is related to insulin resistance and crouzon syndrome, and has symptoms including 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 pd 161570 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...

Descriptions from OMIM:46 200170,100600

Aliases & Classifications for Acanthosis Nigricans

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Acanthosis Nigricans, Aliases & Descriptions:

Name: Acanthosis Nigricans 8 42 10 44 62
an - Acanthosis Nigricans 8
 
Keratosis Nigricans 8
an 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:3138
NCIt39 C26687
MeSH34 D000052
SNOMED-CT57 402599005, 72129000
ICD1025 L83

Related Diseases for Acanthosis Nigricans

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

(show top 50)    (show all 7001)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance31.5INSR, CYP21A2, INS
2crouzon syndrome31.5FGFR3, FGFR2
3obesity31.3CYP21A2, INS, INSR
4achondroplasia31.2FGFR3, FGFR2
5beare-stevenson cutis gyrata syndrome31.2FGFR2
6hyperandrogenism31.0INSR, CYP21A2, INS
7hypochondroplasia30.9FGFR2, FGFR3
8adenocarcinoma30.9FGFR2, INSR, CYP21A2
9alzheimer's disease30.9FGFR3, INS, INSR
10colorectal cancer30.8INSR, FGFR2, FGFR3
11adenoma30.8INSR, INS, CYP21A2
12rabson-mendenhall syndrome30.8INSR, INS
13polycystic ovary syndrome30.8INSR, CYP21A2, INS
14craniosynostosis30.8FGFR2, FGFR3
15syndactyly30.8FGFR3, FGFR2
16chondrosarcoma30.7FGFR2, FGFR3
17gestational diabetes30.7INSR, INS
18lipodystrophy30.7INSR, INS
19transitional cell carcinoma30.7FGFR2, FGFR3
20hypoglycemia30.7INS, INSR
21infectious mononucleosis30.7FGFR2, FGFR3
22hypercholesterolemia30.6INS, INSR
23diabetic retinopathy30.6INS, INSR
24insulinoma30.6INS, INSR
25hyperthyroidism30.6INSR, INS
26cushing's syndrome30.6INS, CYP21A2
27retinoblastoma30.6INSR, FGFR2, FGFR3
28hyperinsulinemic hypoglycemia30.6INS
29dwarfism30.6FGFR3, FGFR2
30thanatophoric dysplasia30.6FGFR2, FGFR3
31congenital generalized lipodystrophy type 230.5INS, INSR
32strabismus30.5FGFR3, FGFR2
33essential hypertension30.5INSR, INS
34hyperinsulinism30.5INS, INSR
35developmental disabilities30.5FGFR2, FGFR3
36hypertriglyceridemia30.5INS, INSR
37breast cancer30.4INSR, CYP21A2, FGFR3, FGFR2, INS
38fetal macrosomia30.4INS
39infertility30.4INS, CYP21A2
40fatty liver disease30.4INS, INSR
41synostosis30.4FGFR2, FGFR3
42bladder carcinoma30.3FGFR2, FGFR3
43hypospadias30.3CYP21A2, FGFR2
44hypopituitarism30.3CYP21A2, INS
45cholera30.3INSR, INS
46type 2 diabetes mellitus30.2CYP21A2, INSR, INS
47glucose intolerance30.2INS, INSR
48melanoma30.2FGFR3, FGFR2, INSR
49primary hyperoxaluria30.2INS, INSR, FGFR2
50short stature30.0INS, CYP21A2, FGFR3

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



Diseases related to acanthosis nigricans

Symptoms for Acanthosis Nigricans

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Clinical features from OMIM:

200170,100600

HPO human phenotypes related to Acanthosis Nigricans:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 acanthosis nigricans HP:0000956

Drugs & Therapeutics for Acanthosis Nigricans

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Drug clinical trials:

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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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MalaCards organs/tissues related to Acanthosis Nigricans:

32
Skin, Ovary, Lung, Liver, Thyroid, Prostate, Bone marrow, Bone, Lymph node, Heart, Skeletal muscle, Kidney, Breast, Cervix, Myeloid, B cells

Animal Models for Acanthosis Nigricans or affiliated genes

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MGI Mouse Phenotypes related to Acanthosis Nigricans:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0FGFR2, INSR, INS
2MP:00053678.6FGFR3, FGFR2, INSR, INS
3MP:00053818.5INS, INSR, FGFR2, FGFR3
4MP:00053898.5INS, INSR, FGFR2, FGFR3
5MP:00053978.4INS, INSR, FGFR2, FGFR3
6MP:00053868.4FGFR3, FGFR2, INSR, INS
7MP:00036318.4FGFR3, FGFR2, INSR, INS
8MP:00053878.3INS, INSR, FGFR2, FGFR3
9MP:00053848.1INS, INSR, FGFR2, FGFR3

Publications for Acanthosis Nigricans

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Articles related to Acanthosis Nigricans:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Acanthosis nigricans in type 2 diabetes: prevalence, correlates and potential as a simple clinical screening tool - a cross-sectional study in the Caribbean. (25031628)
2014
2
An approach to acanthosis nigricans. (25165638)
2014
3
Paraneoplastic acanthosis nigricans maligna. (24353797)
2013
4
Generalised Acanthosis Nigricans in Childhood with Short Stature Associated with Poor Response to Growth Hormone Provocation. (24285118)
2013
5
Is acanthosis nigricans a reliable indicator for risk of type 2 diabetes in obese children and adolescents? A systematic review. (22179051)
2012
6
Atypical presentation of acanthosis nigricans. (23226673)
2012
7
Prevalence of Acanthosis Nigricans in an urban population in Sri Lanka and its utility to detect metabolic syndrome. (21276250)
2011
8
Critical comparison of diffuse reflectance spectroscopy and colorimetry as dermatological diagnostic tools for acanthosis nigricans: a chemometric approach. (21698027)
2011
9
Malignant acanthosis nigricans in rectal adenocarcinoma. (21980718)
2011
10
Palliative treatment of paraneoplastic acanthosis nigricans and oral florid papillomatosis with retinoids. (20865850)
2010
11
This is linear verrucous epidermal nevus, not acanthosis nigricans. (20036800)
2010
12
The involvement of insulin receptor genotypes in pre- and co-obese acanthosis Nigricans children and adolescent. (20857837)
2010
13
Significance of acanthosis nigricans in childhood obesity. (18476925)
2008
14
Acanthosis nigricans: a practical approach to evaluation and management. (19061584)
2008
15
Florid cutaneous papillomatosis with acanthosis nigricans in a patient with carcinomas of the lung and prostate. (17939948)
2007
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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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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Pathways related to Acanthosis Nigricans according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4FGFR3, FGFR2
2
Show member pathways
9.4FGFR2, FGFR3
3
Show member pathways
9.4FGFR3, FGFR2
4
Show member pathways
9.4FGFR3, FGFR2
59.4FGFR3, FGFR2
69.4FGFR3, FGFR2
7
Show member pathways
9.4INS, INSR
89.4INSR, INS
99.4INS, INSR
10
Show member pathways
9.4INSR, INS
11
Show member pathways
Insulin Pathway37
9.4INSR, INS
12
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.4INSR, INS
139.4INSR, INS
14
Show member pathways
9.4INS, INSR
159.4INSR, INS
169.4INS, INSR
17
Show member pathways
9.4INSR, INS
18
Show member pathways
thioredoxin pathway37
9.4INSR, INS
199.4INS, INSR
209.4INSR, INS
219.4INSR, INS
229.4INS, INSR
23
Show member pathways
9.0INSR, FGFR2, FGFR3
24
Show member pathways
9.0FGFR3, FGFR2, INSR
25
Show member pathways
9.0FGFR3, FGFR2, INSR
269.0INSR, FGFR2, FGFR3
279.0INSR, FGFR2, FGFR3
289.0INSR, FGFR2, FGFR3
29
Show member pathways
9.0FGFR3, FGFR2, INSR
30
Show member pathways
9.0INSR, FGFR2, FGFR3
31
Show member pathways
9.0INSR, FGFR2, FGFR3
32
Show member pathways
9.0INSR, FGFR2, FGFR3
33
Show member pathways
9.0FGFR3, FGFR2, INSR
34
Show member pathways
8.8FGFR3, FGFR2, INS
35
Show member pathways
Signaling Pathways in Glioblastoma37
8.8INS, FGFR2, FGFR3
36
Show member pathways
8.4FGFR3, FGFR2, INSR, INS
378.4INS, INSR, FGFR2, FGFR3
38
Show member pathways
8.4FGFR3, FGFR2, INSR, INS
39
Show member pathways
8.4FGFR3, FGFR2, INSR, INS
40
Show member pathways
8.4FGFR3, FGFR2, INSR, INS
41
Show member pathways
8.4INS, INSR, FGFR2, FGFR3
42
Show member pathways
8.4FGFR3, FGFR2, INSR, INS
43
Show member pathways
8.4FGFR3, FGFR2, INSR, INS

Compounds for genes affiliated with Acanthosis Nigricans

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Compounds related to Acanthosis Nigricans according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1pd 161570619.9FGFR2, FGFR3
2fiin 1 hydrochloride619.9FGFR2, FGFR3
3su 5402619.9FGFR2, FGFR3
4su5402449.9FGFR3, FGFR2
5pd 17307444 6110.8FGFR2, FGFR3
6poly(glu(80)tyr(20))449.8INSR, INS
7palifermin44 1110.8FGFR3, FGFR2
8chromium picolinate449.8INS, INSR
9mecasermin44 1110.8INS, INSR
10vanadyl sulfate449.8INSR, INS
11preproinsulin449.8INSR, INS
12moxonidine449.8INSR, INS
13ponatinib50 1110.8FGFR3, FGFR2
14gliclazide44 50 1111.7INSR, INS
15glimepiride44 50 1111.7INS, INSR
16aicar44 24 1111.7INSR, INS
17alpha lipoic acid449.7INSR, INS
18streptozotocin449.7INS, INSR
19fenofibrate44 50 1111.6INSR, INS
20glibenclamide44 28 50 6112.6INSR, INS
212-deoxyglucose44 1110.6INS, INSR
22octreotide44 61 28 1112.5INSR, INS
23metformin44 50 1111.5INSR, INS
24thalidomide44 50 61 1112.4FGFR3, FGFR2
25pioglitazone28 44 50 1112.4INS, INSR
26deoxyribonucleic acid449.4FGFR2, CYP21A2
27cortisone44 2410.4INS, CYP21A2
28phenylalanine449.3FGFR3, FGFR2, INSR
29phosphotyrosine449.3FGFR3, FGFR2, INSR
30dehydroepiandrosterone sulfate449.3INS, CYP21A2
31rapamycin449.2FGFR2, INSR, INS
32dhea449.1INS, CYP21A2
33clomiphene citrate449.0INSR, INS, CYP21A2
34c-peptide449.0INSR, INS, CYP21A2
35hydrocortisone44 2 61 1112.0INSR, INS, CYP21A2
36genistein44 28 61 2 24 1114.0CYP21A2, INSR, FGFR2
37thyroxine44 2410.0CYP21A2, INS, INSR
38androstenedione44 249.7INS, CYP21A2
39threonine448.5CYP21A2, INSR, FGFR2, FGFR3
40oligonucleotide448.5FGFR3, FGFR2, CYP21A2
41epinephrine44 24 1110.5FGFR2, INSR, INS, CYP21A2
42testosterone44 61 24 1111.5CYP21A2, INS, INSR, FGFR2
43dexamethasone44 50 28 1111.4CYP21A2, INS, INSR, FGFR3
44estrogen448.4CYP21A2, INS, INSR, FGFR2
45glucose448.4CYP21A2, INS, INSR, FGFR2
46arginine448.0CYP21A2, INS, INSR, FGFR2, FGFR3
47glutamate448.0CYP21A2, INS, INSR, FGFR2, FGFR3
48lipid448.0CYP21A2, INS, INSR, FGFR2, FGFR3
49serine448.0CYP21A2, INS, INSR, FGFR2, FGFR3
50tyrosine448.0CYP21A2, INS, INSR, FGFR2, FGFR3

GO Terms for genes affiliated with Acanthosis Nigricans

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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:0458399.8FGFR3, FGFR2
4positive regulation of respiratory burstGO:0602679.8INS, INSR
5positive regulation of glycolytic processGO:0458219.7INSR, INS
6bone morphogenesisGO:0603499.7FGFR2, FGFR3
7positive regulation of glycogen biosynthetic processGO:0457259.7INSR, INS
8activation of protein kinase B activityGO:0321489.7INS, INSR
9positive regulation of glucose importGO:0463269.7INSR, INS
10positive regulation of mitosisGO:0458409.7INS, INSR
11positive regulation of nitric oxide biosynthetic processGO:0454299.6INSR, INS
12negative regulation of epithelial cell proliferationGO:0506809.6FGFR2, FGFR3
13positive regulation of DNA replicationGO:0457409.6INSR, INS
14positive regulation of canonical Wnt signaling pathwayGO:0902639.6FGFR3, FGFR2
15positive regulation of cell differentiationGO:0455979.6INS, FGFR3
16positive regulation of protein kinase B signalingGO:0518979.5INSR, INS
17MAPK cascadeGO:0001659.4FGFR3, INS
18phosphatidylinositol-mediated signalingGO:0480159.4FGFR3, FGFR2
19glucose homeostasisGO:0425939.4INS, INSR
20peptidyl-tyrosine phosphorylationGO:0181089.3FGFR3, FGFR2, INSR
21positive regulation of ERK1 and ERK2 cascadeGO:0703749.3FGFR3, FGFR2
22protein autophosphorylationGO:0467779.3INSR, FGFR2, FGFR3
23cell-cell signalingGO:0072679.1FGFR3, FGFR2, 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, FGFR2, FGFR3

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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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
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