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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000956HP:0000956Acanthosis nigricans0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0000956HP:0000956Acanthosis nigricans0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000956HP:0000956Acanthosis nigricans0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0000956HP:0000956Acanthosis nigricans0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040281 - Very frequent12
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000956HP:0000956Acanthosis nigricans0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000956HP:0000956Acanthosis nigricans0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0000956HP:0000956Acanthosis nigricans0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000956HP:0000956Acanthosis nigricans0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0000956HP:0000956Acanthosis nigricans0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 5.8
HP:0000956HP:0000956Acanthosis nigricans0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040283 - Occasional11
HP:0000956HP:0000956Acanthosis nigricans0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000956HP:0000956Acanthosis nigricans0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0000956HP:0000956Acanthosis nigricans0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040282 - Frequent60
HP:0000956HP:0000956Acanthosis nigricans0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features.
HP:0000956HP:0000956Acanthosis nigricans0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H20993467OMIM:615363Estrogen resistance.13
HP:0000956HP:0000956Acanthosis nigricans0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040282 - Frequent13
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000956HP:0000956Acanthosis nigricans0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040283 - Occasional145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans.145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIAHP:0040283 - Occasional145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040283 - Occasional145
HP:0000956HP:0000956Acanthosis nigricans0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040283 - Occasional145
HP:0000956HP:0000956Acanthosis nigricans0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040283 - Occasional5
HP:0000956HP:0000956Acanthosis nigricans0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0000956HP:0000956Acanthosis nigricans0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000956HP:0000956Acanthosis nigricans0HSD11B1 CL E G H32905208OMIM:614662Cortisone reductase deficiency 2HP:0040283 - Occasional5
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000956HP:0000956Acanthosis nigricans0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0000956HP:0000956Acanthosis nigricans0JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040283 - Occasional222
HP:0000956HP:0000956Acanthosis nigricans0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0000956HP:0000956Acanthosis nigricans0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040283 - Occasional645
HP:0000956HP:0000956Acanthosis nigricans0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0000956HP:0000956Acanthosis nigricans0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0000956HP:0000956Acanthosis nigricans0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000956HP:0000956Acanthosis nigricans0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0000956HP:0000956Acanthosis nigricans0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional169
HP:0000956HP:0000956Acanthosis nigricans0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional98
HP:0000956HP:0000956Acanthosis nigricans0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0000956HP:0000956Acanthosis nigricans0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0000956HP:0000956Acanthosis nigricans0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000956HP:0000956Acanthosis nigricans0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0000956HP:0000956Acanthosis nigricans0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0000956HP:0000956Acanthosis nigricans0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000956HP:0000956Acanthosis nigricans0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000956HP:0000956Acanthosis nigricans0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000956HP:0000956Acanthosis nigricans0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0000956HP:0000956Acanthosis nigricans0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0000956HP:0000956Acanthosis nigricans0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000956HP:0000956Acanthosis nigricans0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9


Genes (43) :AFF4 AGPAT2 AIP AKT2 ALMS1 BSCL2 CAV1 CAVIN1 CIDEC CLDN1 COPB1 CUL4B CYP19A1 ELOVL1 ERF ESR1 FGFR2 FGFR3 FOS GPR101 HRAS HSD11B1 INSR JUP LIPE LMNA MC4R NSMCE2 PCSK1 PEX1 PEX6 PKDCC PLIN1 POLR3A POMC PPARG PSMB4 PSMB8 PSMB9 SMARCD2 SPINK5 TFE3 XRCC4

Diseases (63) :ORPHA:444077 ORPHA:528 OMIM:608594 ORPHA:963 ORPHA:79085 ORPHA:64 OMIM:203800 OMIM:269700 ORPHA:363400 OMIM:612526 OMIM:606721 ORPHA:435651 OMIM:615238 ORPHA:59303 OMIM:619255 ORPHA:85293 ORPHA:91 OMIM:618527 ORPHA:207 OMIM:615363 ORPHA:785 OMIM:123790 ORPHA:1555 ORPHA:15 OMIM:616482 OMIM:612247 ORPHA:93262 OMIM:146000 ORPHA:85165 ORPHA:1860 ORPHA:93274 OMIM:300942 ORPHA:3071 OMIM:218040 OMIM:614662 OMIM:246200 ORPHA:508 OMIM:262190 ORPHA:769 ORPHA:34217 ORPHA:435660 OMIM:615980 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:248370 ORPHA:71529 OMIM:617253 ORPHA:71528 ORPHA:3220 OMIM:618821 OMIM:613877 ORPHA:280356 ORPHA:3455 ORPHA:71526 OMIM:604367 ORPHA:79083 OMIM:617591 OMIM:256040 OMIM:617475 ORPHA:634 OMIM:301066 OMIM:616541
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.