Human Phenotype Ontology 
Grandparent Node:
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Thickened skin (HP:0001072)help
Parent Node:
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Epidermal thickening (HP:0011368)help
..Starting node
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Acanthosis nigricans (HP:0000956)help
Term ID: 956
Name: Acanthosis nigricans
Synonym: Darkened and thickened skin; Keratosis nigricans
Definition: A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Comments:
Reference: HP:0000956
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcrokeratosis (HP:0200016) help
..expandGeneralized keratosis follicularis (HP:0007439) help
..expandHypergranulosis (HP:0025114) help
..expandHyperkeratosis (HP:0000962) help
..expandIchthyosis (HP:0008064) help
..expandOrthokeratosis (HP:0040162) help
..expandParakeratosis (HP:0001036) help
..expandPorokeratosis (HP:0200044) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0000956HP:0000956Acanthosis nigricans0AKT2 CL E G H20879085ORPHA1115392164731
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H784064ORPHA14321428606844
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11151527601047
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924435651ORPHA18124229612120
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0000956HP:0000956Acanthosis nigricans0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11913467133430
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22631555ORPHA15673689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15673689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226185165ORPHA17463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193262ORPHA17463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM17463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM17463690134934
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM119414963300393
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H32653071ORPHA15475173190020
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643769ORPHA15536091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15536091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000956HP:0000956Acanthosis nigricans0LIPE CL E G H3991435660ORPHA1826621151750
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000280365ORPHA116226636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0000956HP:0000956Acanthosis nigricans0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM18626513617246
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346280356ORPHA11019076170290
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11019076170290
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0000956HP:0000956Acanthosis nigricans0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM11139541602177
HP:0000956HP:0000956Acanthosis nigricans0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1169546177045
HP:0000956HP:0000956Acanthosis nigricans0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA179115464605010
HP:0000956HP:0000956Acanthosis nigricans0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM18612831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0213325603100
HP:0000956HP:0000956Acanthosis nigricans0AIP CL E G H9049963ORPHA0741358605555
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580363400ORPHA043515832606158
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA043515832606158
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01151527601047
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01129688603198
HP:0000956HP:0000956Acanthosis nigricans0CLDN1 CL E G H907659303ORPHA0922032603718
HP:0000956HP:0000956Acanthosis nigricans0CUL4B CL E G H845085293ORPHA03472555300304
HP:0000956HP:0000956Acanthosis nigricans0ERF CL E G H2077207EchinococcosisORPHA01313444611888
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263207EchinococcosisORPHA05673689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193274ORPHA07463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22611860ORPHA07463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226115Antisocial personality disorderORPHA07463690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261146000Hypochondroplasia146000C0410529OMIM07463690134934
HP:0000956HP:0000956Acanthosis nigricans0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550963ORPHA019414963300393
HP:0000956HP:0000956Acanthosis nigricans0HSD11B1 CL E G H3290614662Cortisone reductase deficiency 2614662C3553382OMIM0315208600713
HP:0000956HP:0000956Acanthosis nigricans0JUP CL E G H372834217ORPHA08926207173325
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40002348ORPHA016226636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H400079084ORPHA016226636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000740Aortic arch interruptionORPHA016226636150330
HP:0000956HP:0000956Acanthosis nigricans0MC4R CL E G H416071529ORPHA02036932155541
HP:0000956HP:0000956Acanthosis nigricans0PCSK1 CL E G H512271528ORPHA02048743162150
HP:0000956HP:0000956Acanthosis nigricans0PEX1 CL E G H51893220ORPHA012058850602136
HP:0000956HP:0000956Acanthosis nigricans0PEX6 CL E G H51903220ORPHA010858859601498
HP:0000956HP:0000956Acanthosis nigricans0POMC CL E G H544371526ORPHA01079201176830
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H546879083ORPHA01399236601487
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01399236601487
HP:0000956HP:0000956Acanthosis nigricans0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA017612877606480


Genes (36) :AGPAT2 AIP AKT2 ALMS1 BSCL2 CAV1 CAVIN1 CIDEC CLDN1 CUL4B CYP19A1 ERF ESR1 FGFR2 FGFR3 FOS GPR101 HRAS HSD11B1 INSR JUP LIPE LMNA MC4R NSMCE2 PCSK1 PEX1 PEX6 PLIN1 POMC PPARG PSMB4 PSMB9 SPINK5 XRCC4 ZMPSTE24

Diseases (54) :528 608594 963 79085 64 203800 363400 269700 612526 613327 435651 615238 59303 85293 91 207 785 615363 1555 123790 93274 1860 93262 85165 15 612247 146000 616482 300942 3071 218040 614662 769 246200 262190 34217 435660 280365 2348 79084 740 151660 71529 617253 71528 3220 280356 613877 71526 79083 604367 617591 634 616541
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.