Human Phenotype Ontology 
Grandparent Node:
expand
Epidermal thickening (HP:0011368)help
Parent Node:
expand
Hyperkeratosis (HP:0000962)help
..Starting node
..expand
Palmoplantar keratoderma (HP:0000982)help
Term ID: 982
Name: Palmoplantar keratoderma
Synonym: Palmar and plantar keratoderma; Thickening of palms and soles
Definition: Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Comments:
Reference: HP:0000982
Genes and Diseases:
 
       Child Nodes:
........expandPatchy palmoplantar keratoderma (HP:0005588) help
........expandNonepidermolytic palmoplantar keratoderma (HP:0007404) help
........expandDiffuse palmoplantar keratoderma (HP:0007435) help
........expandHoneycomb palmoplantar keratoderma (HP:0007465) help
........expandCongenital palmoplantar keratodermia (HP:0007597) help

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) help
..expandGeneralized hyperkeratosis (HP:0005595) help
..expandGingival hyperkeratosis (HP:0000222) help
..expandHyperkeratosis lenticularis perstans (HP:0007570) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHyperkeratosis with erythema (HP:0007390) help
..expandHyperkeratotic papule (HP:0045059) help
..expandHyperparakeratosis (HP:0040009) help
..expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
..expandobsolete Hyperkeratosis pilaris (HP:0040180) help
..expandOrthokeratotic hyperkeratosis (HP:0025080) help
..expandPalmar hyperkeratosis (HP:0010765) help
..expandPerifollicular hyperkeratosis (HP:0007468) help
..expandPlantar hyperkeratosis (HP:0007556) help
..expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
..expandSubungual hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) 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:0000982HP:0000982Palmoplantar keratoderma0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040282 - Frequent57
HP:0000982HP:0000982Palmoplantar keratoderma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0000982HP:0000982Palmoplantar keratoderma0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0000982HP:0000982Palmoplantar keratoderma0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0000982HP:0000982Palmoplantar keratoderma0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0000982HP:0000982Palmoplantar keratoderma0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0000982HP:0000982Palmoplantar keratoderma0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0000982HP:0000982Palmoplantar keratoderma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0000982HP:0000982Palmoplantar keratoderma0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0000982HP:0000982Palmoplantar keratoderma0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3HP:0040283 - Occasional63
HP:0000982HP:0000982Palmoplantar keratoderma0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0000982HP:0000982Palmoplantar keratoderma0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000982HP:0000982Palmoplantar keratoderma0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0000982HP:0000982Palmoplantar keratoderma0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0000982HP:0000982Palmoplantar keratoderma0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000982HP:0000982Palmoplantar keratoderma0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0000982HP:0000982Palmoplantar keratoderma0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000982HP:0000982Palmoplantar keratoderma0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000982HP:0000982Palmoplantar keratoderma0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040281 - Very frequent33
HP:0000982HP:0000982Palmoplantar keratoderma0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0000982HP:0000982Palmoplantar keratoderma0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0000982HP:0000982Palmoplantar keratoderma0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0000982HP:0000982Palmoplantar keratoderma0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040281 - Very frequent1371
HP:0000982HP:0000982Palmoplantar keratoderma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0000982HP:0000982Palmoplantar keratoderma0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0000982HP:0000982Palmoplantar keratoderma0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0000982HP:0000982Palmoplantar keratoderma0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0000982HP:0000982Palmoplantar keratoderma0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0000982HP:0000982Palmoplantar keratoderma0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0000982HP:0000982Palmoplantar keratoderma0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0000982HP:0000982Palmoplantar keratoderma0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000982HP:0000982Palmoplantar keratoderma0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5HP:0040283 - Occasional54
HP:0000982HP:0000982Palmoplantar keratoderma0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0000982HP:0000982Palmoplantar keratoderma0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0000982HP:0000982Palmoplantar keratoderma0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0000982HP:0000982Palmoplantar keratoderma0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0000982HP:0000982Palmoplantar keratoderma0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent16
HP:0000982HP:0000982Palmoplantar keratoderma0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II.747
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent747
HP:0000982HP:0000982Palmoplantar keratoderma0ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0000982HP:0000982Palmoplantar keratoderma0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0000982HP:0000982Palmoplantar keratoderma0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000982HP:0000982Palmoplantar keratoderma0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0000982HP:0000982Palmoplantar keratoderma0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0000982HP:0000982Palmoplantar keratoderma0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopeciaHP:0040281 - Very frequent68
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040282 - Frequent199
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent199
HP:0000982HP:0000982Palmoplantar keratoderma0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 2.12
HP:0000982HP:0000982Palmoplantar keratoderma0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0000982HP:0000982Palmoplantar keratoderma0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0000982HP:0000982Palmoplantar keratoderma0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040282 - Frequent24
HP:0000982HP:0000982Palmoplantar keratoderma0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0000982HP:0000982Palmoplantar keratoderma0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0000982HP:0000982Palmoplantar keratoderma0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0000982HP:0000982Palmoplantar keratoderma0JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040281 - Very frequent222
HP:0000982HP:0000982Palmoplantar keratoderma0JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0000982HP:0000982Palmoplantar keratoderma0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0000982HP:0000982Palmoplantar keratoderma0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent4
HP:0000982HP:0000982Palmoplantar keratoderma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0000982HP:0000982Palmoplantar keratoderma0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent100
HP:0000982HP:0000982Palmoplantar keratoderma0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent110
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0000982HP:0000982Palmoplantar keratoderma0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0000982HP:0000982Palmoplantar keratoderma0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 1.27
HP:0000982HP:0000982Palmoplantar keratoderma0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0000982HP:0000982Palmoplantar keratoderma0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosisHP:0040281 - Very frequent67
HP:0000982HP:0000982Palmoplantar keratoderma0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent173
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse.4
HP:0000982HP:0000982Palmoplantar keratoderma0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent65
HP:0000982HP:0000982Palmoplantar keratoderma0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000982HP:0000982Palmoplantar keratoderma0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0000982HP:0000982Palmoplantar keratoderma0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000982HP:0000982Palmoplantar keratoderma0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000982HP:0000982Palmoplantar keratoderma0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0000982HP:0000982Palmoplantar keratoderma0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000982HP:0000982Palmoplantar keratoderma0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0000982HP:0000982Palmoplantar keratoderma0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0000982HP:0000982Palmoplantar keratoderma0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent
HP:0000982HP:0000982Palmoplantar keratoderma0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0000982HP:0000982Palmoplantar keratoderma0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0000982HP:0000982Palmoplantar keratoderma0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0000982HP:0000982Palmoplantar keratoderma0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0000982HP:0000982Palmoplantar keratoderma0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0000982HP:0000982Palmoplantar keratoderma0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0000982HP:0000982Palmoplantar keratoderma0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0000982HP:0000982Palmoplantar keratoderma0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0000982HP:0000982Palmoplantar keratoderma0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0000982HP:0000982Palmoplantar keratoderma0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0000982HP:0000982Palmoplantar keratoderma0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0000982HP:0000982Palmoplantar keratoderma0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0000982HP:0000982Palmoplantar keratoderma0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0000982HP:0000982Palmoplantar keratoderma0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0000982HP:0000982Palmoplantar keratoderma0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0000982HP:0000982Palmoplantar keratoderma0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000982HP:0000982Palmoplantar keratoderma0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0000982HP:0000982Palmoplantar keratoderma0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0000982HP:0000982Palmoplantar keratoderma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0000982HP:0000982Palmoplantar keratoderma0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040281 - Very frequent107
HP:0000982HP:0000982Palmoplantar keratoderma0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0000982HP:0000982Palmoplantar keratoderma0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0000982HP:0000982Palmoplantar keratoderma0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0000982HP:0000982Palmoplantar keratoderma0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0000982HP:0000982Palmoplantar keratoderma0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeHP:0040281 - Very frequent2
HP:0000982HP:0000982Palmoplantar keratoderma0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000982HP:0000982Palmoplantar keratoderma0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0000982HP:0000982Palmoplantar keratoderma0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0000982HP:0000982Palmoplantar keratoderma0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0000982HP:0000982Palmoplantar keratoderma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0000982HP:0000982Palmoplantar keratoderma0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0000982HP:0000982Palmoplantar keratoderma0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0000982HP:0000982Palmoplantar keratoderma0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040281 - Very frequent80
HP:0000982HP:0000982Palmoplantar keratoderma0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0000982HP:0000982Palmoplantar keratoderma0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeHP:0040281 - Very frequent3
HP:0000982HP:0000982Palmoplantar keratoderma0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0000982HP:0000982Palmoplantar keratoderma0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0000982HP:0000982Palmoplantar keratoderma0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1134
HP:0000982HP:0000982Palmoplantar keratoderma0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional304
HP:0000982HP:0000982Palmoplantar keratoderma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0000982HP:0000982Palmoplantar keratoderma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0000982HP:0000982Palmoplantar keratoderma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0000982HP:0000982Palmoplantar keratoderma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0000982HP:0000982Palmoplantar keratoderma0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima typeHP:0040281 - Very frequent4
HP:0000982HP:0000982Palmoplantar keratoderma0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional223
HP:0000982HP:0000982Palmoplantar keratoderma0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0000982HP:0000982Palmoplantar keratoderma0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0000982HP:0000982Palmoplantar keratoderma0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000982HP:0000982Palmoplantar keratoderma0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0000982HP:0000982Palmoplantar keratoderma0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000982HP:0000982Palmoplantar keratoderma0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0000982HP:0000982Palmoplantar keratoderma0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0000982HP:0000982Palmoplantar keratoderma0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000982HP:0000982Palmoplantar keratoderma0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000982HP:0000982Palmoplantar keratoderma0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040281 - Very frequent43
HP:0000982HP:0000982Palmoplantar keratoderma0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional78
HP:0000982HP:0000982Palmoplantar keratoderma0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0000982HP:0000982Palmoplantar keratoderma0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0000982HP:0000982Palmoplantar keratoderma0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0000982HP:0000982Palmoplantar keratoderma0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0000982HP:0000982Palmoplantar keratoderma0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional136
HP:0000982HP:0000982Palmoplantar keratoderma0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0000982HP:0000982Palmoplantar keratoderma0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional73
HP:0000982HP:0000982Palmoplantar keratoderma0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional180
HP:0000982HP:0000982Palmoplantar keratoderma0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0000982HP:0000982Palmoplantar keratoderma0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000982HP:0000982Palmoplantar keratoderma0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000982HP:0000982Palmoplantar keratoderma0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional230
HP:0000982HP:0000982Palmoplantar keratoderma0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040282 - Frequent27
HP:0000982HP:0000982Palmoplantar keratoderma0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent
HP:0000982HP:0000982Palmoplantar keratoderma0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent124
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques.151
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2.151
HP:0000982HP:0000982Palmoplantar keratoderma0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional7128
HP:0000982HP:0000982Palmoplantar keratoderma0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional85
HP:0000982HP:0000982Palmoplantar keratoderma0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0000982HP:0000982Palmoplantar keratoderma0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0000982HP:0000982Palmoplantar keratoderma0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000982HP:0000982Palmoplantar keratoderma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0000982HP:0000982Palmoplantar keratoderma0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0000982HP:0000982Palmoplantar keratoderma0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040281 - Very frequent71
HP:0000982HP:0000982Palmoplantar keratoderma0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0000982HP:0000982Palmoplantar keratoderma0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40


Genes (151) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 AP1B1 ATP2A2 BAG3 BAG5 BRAF CAP2 CARD14 CAST CD28 CERS3 CFTR COL14A1 COL17A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FKTN GATAD1 GJA1 GJB2 GJB4 GJB6 GMPPA HAND2 HPGD ITGB4 JUP KANK2 KDSR KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LMNA LORICRIN MAP2K1 MAP2K2 MBTPS2 MCOLN1 MYBPC3 MYH6 MYH7 MYPN NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 PARN PEPD PERP PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RHBDF2 RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SEC23B SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 SRD5A3 STS TAF1A TAFAZZIN TAT TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPM4 TRPV3 TTN TXNRD2 TYMS USB1 USF3 VCL WNT10A WRAP53

Diseases (90) :ORPHA:869 ORPHA:79501 ORPHA:79394 OMIM:601277 ORPHA:154 ORPHA:201 OMIM:242100 OMIM:606545 OMIM:242150 ORPHA:218 ORPHA:1340 OMIM:173200 ORPHA:2897 OMIM:616295 ORPHA:3162 ORPHA:498359 ORPHA:79402 OMIM:607936 ORPHA:1775 ORPHA:678 OMIM:604777 OMIM:610476 OMIM:615508 OMIM:148700 ORPHA:50942 OMIM:605676 OMIM:615821 OMIM:612908 OMIM:615522 ORPHA:2908 ORPHA:1555 ORPHA:1010 OMIM:617525 ORPHA:2710 OMIM:104100 OMIM:602540 ORPHA:477 OMIM:149200 ORPHA:2698 ORPHA:2202 OMIM:617524 ORPHA:189 ORPHA:2796 ORPHA:34217 OMIM:601214 OMIM:616099 ORPHA:316 ORPHA:312 OMIM:607654 ORPHA:79396 OMIM:161000 ORPHA:2309 OMIM:613000 ORPHA:455 OMIM:615726 OMIM:615728 OMIM:615735 ORPHA:1306 ORPHA:79395 OMIM:308800 ORPHA:659 OMIM:300918 ORPHA:578 OMIM:612281 OMIM:615225 ORPHA:742 OMIM:619208 ORPHA:158668 ORPHA:79401 OMIM:615024 ORPHA:281201 ORPHA:2198 OMIM:610644 ORPHA:85112 OMIM:618373 ORPHA:140966 ORPHA:87503 OMIM:129200 ORPHA:384 OMIM:609528 ORPHA:324737 OMIM:308100 ORPHA:28378 OMIM:106260 OMIM:129400 OMIM:614594 OMIM:616400 OMIM:604173 ORPHA:50944 OMIM:224750
 

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