MCID: ACN002
MIFTS: 55

Acanthosis Nigricans malady

Rare diseases, Skin diseases categories

Aliases & Classifications for Acanthosis Nigricans

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Aliases & Descriptions for Acanthosis Nigricans:

Name: Acanthosis Nigricans 8 42 10 44 61
an - Acanthosis Nigricans 8
 
Keratosis Nigricans 8
an 42


Classifications:



External Ids:

Disease Ontology8 DOID:3138
NCIt39 C26687
SNOMED-CT56 72129000, 402599005
MeSH33 D000052
ICD1025 L83

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 crouzon syndrome and achondroplasia, and has symptoms including autosomal dominant inheritanceand acanthosis nigricans. 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:64 Acanthosis nigricans is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is... more...

Related Diseases for Acanthosis Nigricans

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

(show top 50)    (show all 6787)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome31.5FGFR2, FGFR3
2achondroplasia31.3FGFR2, FGFR3
3obesity31.3INSR, INS, CYP21A2
4hypochondroplasia31.1FGFR2, FGFR3
5hyperandrogenism31.0CYP21A2, INS, INSR
6thanatophoric dysplasia, type i31.0FGFR2, FGFR3
7rabson-mendenhall syndrome31.0INS, INSR
8beare-stevenson cutis gyrata syndrome30.9FGFR2
9adenocarcinoma30.9CYP21A2, INSR, FGFR2
10colorectal cancer30.8INSR, FGFR2, FGFR3
11adenoma30.8INSR, INS, CYP21A2
12polycystic ovary syndrome30.8CYP21A2, INS, INSR
13craniosynostosis30.8FGFR3, FGFR2
14syndactyly30.7FGFR3, FGFR2
15chondrosarcoma30.7FGFR3, FGFR2
16lipodystrophy30.7INS, INSR
17hypoglycemia30.7INSR, INS
18transitional cell carcinoma30.7FGFR2, FGFR3
19insulinoma30.6INS, INSR
20hyperthyroidism30.6INSR, INS
21retinoblastoma30.6INSR, FGFR2, FGFR3
22cushing's syndrome30.6CYP21A2, INS
23hyperinsulinemic hypoglycemia30.6INS
24dwarfism30.6FGFR3, FGFR2
25leprechaunism30.6INS, INSR
26strabismus30.5FGFR2, FGFR3
27developmental disabilities30.5FGFR2, FGFR3
28hyperinsulinism30.5INSR, INS
29hepatocellular carcinoma30.5INS, INSR, FGFR2
30hypertriglyceridemia30.5INSR, INS
31synostosis30.4FGFR2, FGFR3
32breast cancer30.4CYP21A2, INS, INSR, FGFR2, FGFR3
33infertility30.4INS, CYP21A2
34fatty liver disease30.4INSR, INS
35fetal macrosomia30.3INS
36hypospadias30.3FGFR2, CYP21A2
37alzheimer disease30.3FGFR3, INSR, INS
38hypopituitarism30.3CYP21A2, INS
39pfeiffer syndrome30.3FGFR2, FGFR3
40cholera30.3INS, INSR
41primary hyperoxaluria30.2FGFR2, INSR, INS
42glucose intolerance30.2INS, INSR
43melanoma30.2INSR, FGFR2, FGFR3
44prostate cancer30.0FGFR3, FGFR2, INSR
45conn's syndrome30.0INSR, CYP21A2
46apert syndrome29.9FGFR2, FGFR3
47saethre-chotzen syndrome29.9FGFR2, FGFR3
48anovulation29.9INS, CYP21A2
49muenke syndrome29.9FGFR3, FGFR2
50berardinelli-seip congenital lipodystrophy29.8INS, 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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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:

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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MalaCards organs/tissues related to Acanthosis Nigricans:

31
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:

35
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 533)
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
Unilateral nevoid acanthosis nigricans: Uncommon variant of a common disease. (25506563)
2014
4
Paraneoplastic acanthosis nigricans maligna. (24353797)
2013
5
Generalised Acanthosis Nigricans in Childhood with Short Stature Associated with Poor Response to Growth Hormone Provocation. (24285118)
2013
6
Is acanthosis nigricans a reliable indicator for risk of type 2 diabetes in obese children and adolescents? A systematic review. (22179051)
2012
7
Atypical presentation of acanthosis nigricans. (23226673)
2012
8
Prevalence of Acanthosis Nigricans in an urban population in Sri Lanka and its utility to detect metabolic syndrome. (21276250)
2011
9
Critical comparison of diffuse reflectance spectroscopy and colorimetry as dermatological diagnostic tools for acanthosis nigricans: a chemometric approach. (21698027)
2011
10
Malignant acanthosis nigricans in rectal adenocarcinoma. (21980718)
2011
11
Palliative treatment of paraneoplastic acanthosis nigricans and oral florid papillomatosis with retinoids. (20865850)
2010
12
This is linear verrucous epidermal nevus, not acanthosis nigricans. (20036800)
2010
13
The involvement of insulin receptor genotypes in pre- and co-obese acanthosis Nigricans children and adolescent. (20857837)
2010
14
Significance of acanthosis nigricans in childhood obesity. (18476925)
2008
15
Acanthosis nigricans: a practical approach to evaluation and management. (19061584)
2008
16
Florid cutaneous papillomatosis with acanthosis nigricans in a patient with carcinomas of the lung and prostate. (17939948)
2007
17
Acanthosis nigricans as an adverse effect of highly active antiretroviral therapy in an adolescent girl with human immunodeficiency virus infection. (16094236)
2005
18
Eyelid involvement in acanthosis nigricans: the importance of systemic screening. (16234716)
2005
19
Facial acanthosis nigricans associated with obesity. (15953092)
2005
20
Prevalence of acanthosis nigricans in newly-diagnosed type 2 diabetes. (15256325)
2004
21
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. (15517832)
2004
22
Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome). (15456556)
2004
23
Acanthosis nigricans is a reliable cutaneous marker of insulin resistance in obese Japanese children. (14651545)
2003
24
Association of acanthosis nigricans with race and metabolic disturbances in obese women. (11743615)
2002
25
Tripe palms and malignant acanthosis nigricans: cutaneous signs of imminent metastasis in bladder cancer? (11342938)
2001
26
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
27
Acanthosis nigricans. (10212845)
1998
28
A case of acanthosis nigricans in obese siblings with a pedigree of familial polyposis coli. (9330076)
1997
29
Malignant acanthosis nigricans and tripe palms in a patient with endometrial adenocarcinoma--a case report and review of literature. (9190991)
1997
30
Insulin receptor defects in the erythrocytes of obese Indian women with Acanthosis Nigricans. (9352137)
1997
31
Crouzon disease with acanthosis nigricans and melanocytic nevi. (8919518)
1996
32
Childhood acanthosis nigricans. (7648884)
1995
33
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. (7493034)
1995
34
Acanthosis nigricans. (8021347)
1994
35
Case report: defective beta and alpha cell regulation in patients with hyperinsulinemia and acanthosis nigricans. (8172227)
1994
36
Malignant acanthosis nigricans associated with a renal tumor. (8125695)
1993
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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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 Suite gene sharing:

(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
89.4INS, INSR
9
Show member pathways
9.4INS, INSR
10
Show member pathways
Insulin Pathway36
9.4INSR, INS
119.4INSR, INS
12
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.4INSR, INS
13
Show member pathways
9.4INSR, INS
149.4INS, INSR
159.4INS, INSR
16
Show member pathways
9.4INSR, INS
17
Show member pathways
thioredoxin pathway36
9.4INS, INSR
189.4INSR, INS
199.4INS, INSR
209.4INS, INSR
219.4INS, INSR
22
Show member pathways
9.0INSR, FGFR2, FGFR3
23
Show member pathways
9.0INSR, FGFR3, FGFR2
24
Show member pathways
9.0FGFR3, FGFR2, INSR
259.0FGFR2, INSR, FGFR3
269.0INSR, FGFR3, FGFR2
279.0INSR, FGFR3, FGFR2
28
Show member pathways
9.0FGFR2, INSR, FGFR3
29
Show member pathways
9.0INSR, FGFR3, FGFR2
30
Show member pathways
9.0INSR, FGFR3, FGFR2
31
Show member pathways
9.0FGFR3, INSR, FGFR2
32
Show member pathways
9.0FGFR2, INSR, FGFR3
33
Show member pathways
8.8FGFR3, FGFR2, INS
34
Show member pathways
Signaling Pathways in Glioblastoma36
8.8INS, FGFR3, FGFR2
35
Show member pathways
8.4FGFR3, FGFR2, INS, INSR
368.4INS, INSR, FGFR2, FGFR3
37
Show member pathways
8.4INSR, FGFR2, FGFR3, INS
38
Show member pathways
8.4INS, FGFR3, FGFR2, INSR
39
Show member pathways
8.4INSR, FGFR3, INS, FGFR2
40
Show member pathways
8.4FGFR2, INS, INSR, FGFR3
41
Show member pathways
8.4INSR, FGFR2, INS, FGFR3
42
Show member pathways
8.4FGFR3, INS, INSR, FGFR2

Compounds for genes affiliated with Acanthosis Nigricans

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

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1su 5402609.9FGFR2, FGFR3
2fiin 1 hydrochloride609.9FGFR3, FGFR2
3pd 161570609.9FGFR3, FGFR2
4su5402449.9FGFR3, FGFR2
5pd 17307444 6010.8FGFR3, FGFR2
6poly(glu(80)tyr(20))449.8INS, INSR
7palifermin44 1110.8FGFR2, FGFR3
8chromium picolinate449.8INSR, INS
9mecasermin44 1110.8INSR, INS
10vanadyl sulfate449.8INS, INSR
11preproinsulin449.8INS, INSR
12moxonidine449.8INSR, INS
13ponatinib50 1110.8FGFR3, FGFR2
14gliclazide44 50 1111.7INSR, INS
15glimepiride44 50 1111.7INSR, INS
16aicar44 24 1111.7INS, INSR
17alpha lipoic acid449.7INS, INSR
18streptozotocin449.7INS, INSR
19fenofibrate44 50 1111.6INSR, INS
20glibenclamide44 28 50 6012.6INS, INSR
212-deoxyglucose44 1110.6INSR, INS
22octreotide44 60 28 1112.5INSR, INS
23metformin44 50 1111.5INSR, INS
24thalidomide44 50 60 1112.4FGFR3, FGFR2
25pioglitazone28 44 50 1112.4INSR, INS
26deoxyribonucleic acid449.4CYP21A2, FGFR2
27cortisone44 2410.4CYP21A2, INS
28phenylalanine449.3FGFR3, INSR, FGFR2
29phosphotyrosine449.3FGFR2, INSR, FGFR3
30dehydroepiandrosterone sulfate449.3CYP21A2, INS
31rapamycin449.2INSR, INS, FGFR2
32dhea449.1CYP21A2, INS
33clomiphene citrate449.0CYP21A2, INS, INSR
34c-peptide449.0INS, INSR, CYP21A2
35hydrocortisone44 1 60 1112.0INSR, CYP21A2, INS
36genistein44 28 60 1 24 1114.0CYP21A2, INSR, FGFR2
37thyroxine44 2410.0CYP21A2, INSR, INS
38androstenedione44 249.7INS, CYP21A2
39threonine448.5FGFR3, CYP21A2, INSR, FGFR2
40oligonucleotide448.5FGFR2, CYP21A2, FGFR3
41epinephrine44 24 1110.5INS, INSR, FGFR2, CYP21A2
42testosterone44 60 24 1111.5CYP21A2, FGFR2, INSR, INS
43dexamethasone44 50 28 1111.4CYP21A2, INSR, FGFR3, INS
44estrogen448.4FGFR2, INS, CYP21A2, INSR
45glucose448.4INS, INSR, FGFR2, CYP21A2
46arginine448.0FGFR3, INSR, INS, CYP21A2, FGFR2
47glutamate448.0FGFR3, CYP21A2, INS, INSR, FGFR2
48lipid448.0INS, CYP21A2, INSR, FGFR2, FGFR3
49serine448.0INS, INSR, FGFR2, FGFR3, CYP21A2
50tyrosine448.0FGFR3, FGFR2, CYP21A2, INSR, INS

GO Terms for genes affiliated with Acanthosis Nigricans

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Cellular components related to Acanthosis Nigricans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.4FGFR3, FGFR2

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase activityGO:00105189.8FGFR2, FGFR3
2lens fiber cell developmentGO:00703079.8FGFR3, FGFR2
3negative regulation of mitosisGO:00458399.8FGFR2, FGFR3
4positive regulation of respiratory burstGO:00602679.7INSR, INS
5positive regulation of glycolytic processGO:00458219.7INS, INSR
6bone morphogenesisGO:00603499.7FGFR2, FGFR3
7positive regulation of glycogen biosynthetic processGO:00457259.7INS, INSR
8activation of protein kinase B activityGO:00321489.7INSR, INS
9positive regulation of glucose importGO:00463269.7INSR, INS
10positive regulation of mitosisGO:00458409.6INS, INSR
11positive regulation of nitric oxide biosynthetic processGO:00454299.6INS, INSR
12negative regulation of epithelial cell proliferationGO:00506809.6FGFR2, FGFR3
13positive regulation of DNA replicationGO:00457409.6INS, INSR
14positive regulation of cell differentiationGO:00455979.6INS, FGFR3
15positive regulation of canonical Wnt signaling pathwayGO:00902639.6FGFR3, FGFR2
16positive regulation of protein kinase B signalingGO:00518979.5INSR, INS
17MAPK cascadeGO:00001659.4INS, FGFR3
18phosphatidylinositol-mediated signalingGO:00480159.4FGFR3, FGFR2
19glucose homeostasisGO:00425939.4INS, INSR
20peptidyl-tyrosine phosphorylationGO:00181089.3INSR, FGFR2, FGFR3
21positive regulation of ERK1 and ERK2 cascadeGO:00703749.3FGFR3, FGFR2
22protein autophosphorylationGO:00467779.3INSR, FGFR3, FGFR2
23cell-cell signalingGO:00072679.1FGFR2, FGFR3, INS
24positive regulation of cell migrationGO:00303359.1INSR, INS
25positive regulation of MAPK cascadeGO:00434108.7FGFR3, FGFR2, INSR, INS
26insulin receptor signaling pathwayGO:00082868.7INS, INSR, FGFR2, FGFR3
27positive regulation of cell proliferationGO:00082848.7INS, INSR, FGFR3, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:00171349.4FGFR3, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.3FGFR3, FGFR2
3insulin-like growth factor receptor bindingGO:00051599.1INSR, INS
4protein tyrosine kinase activityGO:00047139.0FGFR3, FGFR2, INSR

Sources for Acanthosis Nigricans

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet