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 1608594C1720862OMIM1203325603100
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0000956HP:0000956Acanthosis nigricans0AKT2 CL E G H20879085ORPHA194392164731
HP:0000956HP:0000956Acanthosis nigricans0AKT2 CL E G H20879085ORPHA177392164731
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H784064ORPHA13342428606844
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H784064ORPHA12504428606844
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924435651ORPHA17624229612120
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924435651ORPHA17124229612120
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17624229612120
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM17124229612120
HP:0000956HP:0000956Acanthosis nigricans0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0000956HP:0000956Acanthosis nigricans0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11853467133430
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11813467133430
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11853467133430
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11813467133430
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22631555ORPHA15013689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22631555ORPHA14663689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193262ORPHA15423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226185165ORPHA15423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193262ORPHA15413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226185165ORPHA15413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM15423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM15413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM15423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM15413690134934
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM119614963300393
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550300942Chromosome Xq26.3 duplication syndrome300942C3891556OMIM120014963300393
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H32653071ORPHA14675173190020
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H32653071ORPHA14115173190020
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643769ORPHA15416091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643769ORPHA15086091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15416091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15086091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15086091147670
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15416091147670
HP:0000956HP:0000956Acanthosis nigricans0LIPE CL E G H3991435660ORPHA1826621151750
HP:0000956HP:0000956Acanthosis nigricans0LIPE CL E G H3991435660ORPHA1786621151750
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000280365ORPHA114866636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000280365ORPHA113476636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM113476636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM114866636150330
HP:0000956HP:0000956Acanthosis nigricans0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM17126513617246
HP:0000956HP:0000956Acanthosis nigricans0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM15826513617246
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346280356ORPHA11029076170290
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346280356ORPHA1949076170290
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM1949076170290
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11029076170290
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11249236601487
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11089236601487
HP:0000956HP:0000956Acanthosis nigricans0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000956HP:0000956Acanthosis nigricans0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000956HP:0000956Acanthosis nigricans0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000956HP:0000956Acanthosis nigricans0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA172815464605010
HP:0000956HP:0000956Acanthosis nigricans0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA163015464605010
HP:0000956HP:0000956Acanthosis nigricans0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM16812831194363
HP:0000956HP:0000956Acanthosis nigricans0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM15412831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0000956HP:0000956Acanthosis nigricans0AIP CL E G H9049963ORPHA0487358605555
HP:0000956HP:0000956Acanthosis nigricans0AIP CL E G H9049963ORPHA0395358605555
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0000956HP:0000956Acanthosis nigricans0CLDN1 CL E G H907659303ORPHA0932032603718
HP:0000956HP:0000956Acanthosis nigricans0CLDN1 CL E G H907659303ORPHA0902032603718
HP:0000956HP:0000956Acanthosis nigricans0CUL4B CL E G H845085293ORPHA03222555300304
HP:0000956HP:0000956Acanthosis nigricans0CUL4B CL E G H845085293ORPHA03102555300304
HP:0000956HP:0000956Acanthosis nigricans0ERF CL E G H2077207EchinococcosisORPHA01203444611888
HP:0000956HP:0000956Acanthosis nigricans0ERF CL E G H2077207EchinococcosisORPHA01113444611888
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263207EchinococcosisORPHA04663689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H2263207EchinococcosisORPHA05013689176943
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193274ORPHA05423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22611860ORPHA05423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226193274ORPHA05413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22611860ORPHA05413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226115Antisocial personality disorderORPHA05413690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H226115Antisocial personality disorderORPHA05423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261146000Hypochondroplasia146000C0410529OMIM05423690134934
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H2261146000Hypochondroplasia146000C0410529OMIM05413690134934
HP:0000956HP:0000956Acanthosis nigricans0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550963ORPHA020014963300393
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H83550963ORPHA019614963300393
HP:0000956HP:0000956Acanthosis nigricans0HSD11B1 CL E G H3290614662Cortisone reductase deficiency 2614662C3553382OMIM0285208600713
HP:0000956HP:0000956Acanthosis nigricans0JUP CL E G H372834217ORPHA07456207173325
HP:0000956HP:0000956Acanthosis nigricans0JUP CL E G H372834217ORPHA06396207173325
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40002348ORPHA014866636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H400079084ORPHA014866636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40002348ORPHA013476636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H400079084ORPHA013476636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0000956HP:0000956Acanthosis nigricans0MC4R CL E G H416071529ORPHA01916932155541
HP:0000956HP:0000956Acanthosis nigricans0MC4R CL E G H416071529ORPHA01846932155541
HP:0000956HP:0000956Acanthosis nigricans0PCSK1 CL E G H512271528ORPHA01888743162150
HP:0000956HP:0000956Acanthosis nigricans0PCSK1 CL E G H512271528ORPHA01728743162150
HP:0000956HP:0000956Acanthosis nigricans0PEX1 CL E G H51893220ORPHA09518850602136
HP:0000956HP:0000956Acanthosis nigricans0PEX1 CL E G H51893220ORPHA07938850602136
HP:0000956HP:0000956Acanthosis nigricans0PEX6 CL E G H51903220ORPHA08558859601498
HP:0000956HP:0000956Acanthosis nigricans0PEX6 CL E G H51903220ORPHA06458859601498
HP:0000956HP:0000956Acanthosis nigricans0POMC CL E G H544371526ORPHA0959201176830
HP:0000956HP:0000956Acanthosis nigricans0POMC CL E G H544371526ORPHA0889201176830
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H546879083ORPHA01249236601487
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H546879083ORPHA01089236601487
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0000956HP:0000956Acanthosis nigricans0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0000956HP:0000956Acanthosis nigricans0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480


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 79084 280365 2348 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.