Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
..Starting node
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Squamous cell carcinoma (HP:0002860)help
Term ID: 2860
Name: Squamous cell carcinoma
Synonym: Squamous cell cancer
Definition: The presence of squamous cell carcinoma of the skin.
Comments:
Reference: HP:0002860
Genes and Diseases:
 
       Child Nodes:
........expandSquamous cell carcinoma of the skin (HP:0006739) help
........expandOropharyngeal squamous cell carcinoma (HP:0012182) help

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous mastocytosis (HP:0200151) help
..expandCutaneous melanoma (HP:0012056) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandNeurofibromas (HP:0001067) help
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) 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:0002860HP:0002860Squamous cell carcinoma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0002860HP:0002860Squamous cell carcinoma0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0002860HP:0002860Squamous cell carcinoma0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0002860HP:0002860Squamous cell carcinoma0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0002860HP:0002860Squamous cell carcinoma0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002860HP:0002860Squamous cell carcinoma0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002860HP:0002860Squamous cell carcinoma0CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0002860HP:0002860Squamous cell carcinoma0CIB1 CL E G H1051916920ORPHA:302Epidermodysplasia verruciformisHP:0040283 - Occasional
HP:0002860HP:0002860Squamous cell carcinoma0CIB1 CL E G H1051916920OMIM:618267Epidermodysplasia verruciformis, susceptibility to, 3.
HP:0002860HP:0002860Squamous cell carcinoma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0002860HP:0002860Squamous cell carcinoma0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040284 - Very rare263
HP:0002860HP:0002860Squamous cell carcinoma0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent263
HP:0002860HP:0002860Squamous cell carcinoma0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0002860HP:0002860Squamous cell carcinoma0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0002860HP:0002860Squamous cell carcinoma0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E30
HP:0002860HP:0002860Squamous cell carcinoma0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0002860HP:0002860Squamous cell carcinoma0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040283 - Occasional217
HP:0002860HP:0002860Squamous cell carcinoma0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0002860HP:0002860Squamous cell carcinoma0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0002860HP:0002860Squamous cell carcinoma0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0002860HP:0002860Squamous cell carcinoma0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex106
HP:0002860HP:0002860Squamous cell carcinoma0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0002860HP:0002860Squamous cell carcinoma0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0002860HP:0002860Squamous cell carcinoma0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex54
HP:0002860HP:0002860Squamous cell carcinoma0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F158
HP:0002860HP:0002860Squamous cell carcinoma0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex158
HP:0002860HP:0002860Squamous cell carcinoma0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex83
HP:0002860HP:0002860Squamous cell carcinoma0FDPS CL E G H22243631ORPHA:79152Disseminated superficial actinic porokeratosisHP:0040283 - Occasional4
HP:0002860HP:0002860Squamous cell carcinoma0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0002860HP:0002860Squamous cell carcinoma0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0002860HP:0002860Squamous cell carcinoma0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0002860HP:0002860Squamous cell carcinoma0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0002860HP:0002860Squamous cell carcinoma0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0002860HP:0002860Squamous cell carcinoma0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0002860HP:0002860Squamous cell carcinoma0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0002860HP:0002860Squamous cell carcinoma0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002860HP:0002860Squamous cell carcinoma0IL7 CL E G H35746023ORPHA:302Epidermodysplasia verruciformisHP:0040283 - Occasional
HP:0002860HP:0002860Squamous cell carcinoma0IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0002860HP:0002860Squamous cell carcinoma0ING1 CL E G H36216062OMIM:275355Squamous cell carcinoma, head and neck.3
HP:0002860HP:0002860Squamous cell carcinoma0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0002860HP:0002860Squamous cell carcinoma0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0002860HP:0002860Squamous cell carcinoma0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0002860HP:0002860Squamous cell carcinoma0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0002860HP:0002860Squamous cell carcinoma0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0002860HP:0002860Squamous cell carcinoma0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0002860HP:0002860Squamous cell carcinoma0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0002860HP:0002860Squamous cell carcinoma0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent6
HP:0002860HP:0002860Squamous cell carcinoma0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0002860HP:0002860Squamous cell carcinoma0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0002860HP:0002860Squamous cell carcinoma0MVD CL E G H45977529ORPHA:79152Disseminated superficial actinic porokeratosisHP:0040283 - Occasional2
HP:0002860HP:0002860Squamous cell carcinoma0MVK CL E G H45987530ORPHA:79152Disseminated superficial actinic porokeratosisHP:0040283 - Occasional150
HP:0002860HP:0002860Squamous cell carcinoma0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0002860HP:0002860Squamous cell carcinoma0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0002860HP:0002860Squamous cell carcinoma0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002860HP:0002860Squamous cell carcinoma0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0002860HP:0002860Squamous cell carcinoma0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0002860HP:0002860Squamous cell carcinoma0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0002860HP:0002860Squamous cell carcinoma0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease.2
HP:0002860HP:0002860Squamous cell carcinoma0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0002860HP:0002860Squamous cell carcinoma0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0002860HP:0002860Squamous cell carcinoma0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002860HP:0002860Squamous cell carcinoma0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0002860HP:0002860Squamous cell carcinoma0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0002860HP:0002860Squamous cell carcinoma0SLC17A9 CL E G H6391016192ORPHA:79152Disseminated superficial actinic porokeratosisHP:0040283 - Occasional3
HP:0002860HP:0002860Squamous cell carcinoma0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0002860HP:0002860Squamous cell carcinoma0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0002860HP:0002860Squamous cell carcinoma0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0002860HP:0002860Squamous cell carcinoma0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002860HP:0002860Squamous cell carcinoma0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0002860HP:0002860Squamous cell carcinoma0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0002860HP:0002860Squamous cell carcinoma0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0002860HP:0002860Squamous cell carcinoma0TMC6 CL E G H1132218021ORPHA:302Epidermodysplasia verruciformisHP:0040283 - Occasional10
HP:0002860HP:0002860Squamous cell carcinoma0TMC8 CL E G H14713820474ORPHA:302Epidermodysplasia verruciformisHP:0040283 - Occasional4
HP:0002860HP:0002860Squamous cell carcinoma0TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0002860HP:0002860Squamous cell carcinoma0TNFRSF10B CL E G H879511905OMIM:275355Squamous cell carcinoma, head and neck.2
HP:0002860HP:0002860Squamous cell carcinoma0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002860HP:0002860Squamous cell carcinoma0TYMS CL E G H729812441OMIM:6200401
HP:0002860HP:0002860Squamous cell carcinoma0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0002860HP:0002860Squamous cell carcinoma0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0002860HP:0002860Squamous cell carcinoma0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0002860HP:0002860Squamous cell carcinoma0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040283 - Occasional71
HP:0002860HP:0002860Squamous cell carcinoma0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0002860HP:0002860Squamous cell carcinoma0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0002860HP:0002860Squamous cell carcinoma0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0002860HP:0006739Squamous cell carcinoma of the skin1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0002860HP:0006739Squamous cell carcinoma of the skin1ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0002860HP:0006739Squamous cell carcinoma of the skin1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0002860HP:0006739Squamous cell carcinoma of the skin1ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0002860HP:0006739Squamous cell carcinoma of the skin1ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0002860HP:0006739Squamous cell carcinoma of the skin1ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0002860HP:0006739Squamous cell carcinoma of the skin1IL7 CL E G H35746023OMIM:618309EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5
HP:0002860HP:0006739Squamous cell carcinoma of the skin1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040284 - Very rare110
HP:0002860HP:0006739Squamous cell carcinoma of the skin1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040284 - Very rare173
HP:0002860HP:0006739Squamous cell carcinoma of the skin1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0002860HP:0006739Squamous cell carcinoma of the skin1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002860HP:0006739Squamous cell carcinoma of the skin1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0002860HP:0006739Squamous cell carcinoma of the skin1RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeHP:0040281 - Very frequent3
HP:0002860HP:0006739Squamous cell carcinoma of the skin1SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional89
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TMC8 CL E G H14713820474OMIM:618231EPIDERMODYSPLASIA VERRUCIFORMIS 2; EV24
HP:0002860HP:0012182Oropharyngeal squamous cell carcinoma1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040283 - Occasional
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TYMS CL E G H729812441OMIM:6200401
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040283 - Occasional146
HP:0002860HP:0006739Squamous cell carcinoma of the skin1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040283 - Occasional146
HP:0002860HP:0006739Squamous cell carcinoma of the skin1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86


Genes (66) :AAGAB ANAPC1 ATR BLM BRD4 CARS1 CDKN2A CIB1 COL14A1 COL7A1 CTSC DDB2 DKC1 DOCK8 ERCC2 ERCC3 ERCC4 ERCC5 FDPS FERMT1 GATA1 GJB2 GJB6 GTF2E2 GTF2H5 IL7 ING1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA MC1R MMP1 MPLKIP MVD MVK NLRP1 NTHL1 NUTM1 OCA2 POLH PSENEN RECQL4 RNF113A RSPO1 SASH1 SLC17A9 SLX4 SMARCAD1 STAT1 TARS1 TERC TERT TINF2 TMC6 TMC8 TNFRSF10B TOM1 TYMS TYR UROS WNT10A WRN XPC

Diseases (54) :ORPHA:79501 ORPHA:221008 OMIM:614564 OMIM:210900 ORPHA:443167 ORPHA:33364 OMIM:606719 ORPHA:302 OMIM:618267 ORPHA:89842 ORPHA:79408 OMIM:226600 ORPHA:678 OMIM:278740 OMIM:305000 ORPHA:217390 OMIM:243700 OMIM:601675 ORPHA:220295 OMIM:610651 OMIM:278760 ORPHA:79152 ORPHA:2908 ORPHA:79277 OMIM:602540 OMIM:148210 ORPHA:477 OMIM:618309 OMIM:275355 ORPHA:79396 ORPHA:79404 ORPHA:363618 ORPHA:79432 OMIM:615225 ORPHA:454840 ORPHA:90342 OMIM:278750 OMIM:613736 ORPHA:221016 OMIM:268400 ORPHA:85112 OMIM:618373 OMIM:613951 OMIM:181600 ORPHA:391487 OMIM:127550 OMIM:618231 OMIM:620040 ORPHA:79431 ORPHA:79434 ORPHA:50944 OMIM:224750 ORPHA:902 OMIM:278720
 

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