Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Erythroderma (HP:0001019)help
Term ID: 1019
Name: Erythroderma
Synonym: Exfoliative dermititis; Generalised erythroderma; Generalised erythrodermia; Generalized erythroderma; Generalized erythrodermia; Red scaly skin caused by inflammatory skin disease
Definition: An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Comments:
Reference: HP:0001019
Genes and Diseases:
 
       Child Nodes:
........expandCongenital exfoliative erythroderma (HP:0007381) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandEczema (HP:0000964) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandRecurrent skin infections (HP:0001581) help
..expandSkin rash (HP:0000988) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) 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:0001019HP:0001019Erythroderma0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent130
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040282 - Frequent130
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0001019HP:0001019Erythroderma0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0001019HP:0001019Erythroderma0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent75
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent63
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0001019HP:0001019Erythroderma0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001019HP:0001019Erythroderma0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0001019HP:0001019Erythroderma0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040281 - Very frequent33
HP:0001019HP:0001019Erythroderma0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001019HP:0001019Erythroderma0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0001019HP:0001019Erythroderma0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0001019HP:0001019Erythroderma0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0001019HP:0001019Erythroderma0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0001019HP:0001019Erythroderma0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0001019HP:0001019Erythroderma0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0001019HP:0001019Erythroderma0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent5
HP:0001019HP:0001019Erythroderma0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0001019HP:0001019Erythroderma0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0001019HP:0001019Erythroderma0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040281 - Very frequent10
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5HP:0040283 - Occasional54
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001019HP:0001019Erythroderma0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type4
HP:0001019HP:0001019Erythroderma0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0001019HP:0001019Erythroderma0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001019HP:0001019Erythroderma0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001019HP:0001019Erythroderma0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0001019HP:0001019Erythroderma0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001019HP:0001019Erythroderma0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0001019HP:0001019Erythroderma0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001019HP:0001019Erythroderma0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalitiesHP:0040283 - Occasional3
HP:0001019HP:0001019Erythroderma0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001019HP:0001019Erythroderma0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0001019HP:0001019Erythroderma0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0001019HP:0001019Erythroderma0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001019HP:0001019Erythroderma0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001019HP:0001019Erythroderma0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001019HP:0001019Erythroderma0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0001019HP:0001019Erythroderma0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001019HP:0001019Erythroderma0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0001019HP:0001019Erythroderma0KIT CL E G H38156342ORPHA:280785Bullous diffuse cutaneous mastocytosisHP:0040281 - Very frequent327
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent100
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent45
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular.45
HP:0001019HP:0001019Erythroderma0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0001019HP:0001019Erythroderma0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0001019HP:0001019Erythroderma0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0001019HP:0001019Erythroderma0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0001019HP:0001019Erythroderma0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0001019HP:0001019Erythroderma0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent60
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6HP:0040283 - Occasional60
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent47
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0001019HP:0001019Erythroderma0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001019HP:0001019Erythroderma0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0001019HP:0001019Erythroderma0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0001019HP:0001019Erythroderma0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001019HP:0001019Erythroderma0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0001019HP:0001019Erythroderma0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0001019HP:0001019Erythroderma0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0001019HP:0001019Erythroderma0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0001019HP:0001019Erythroderma0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0001019HP:0001019Erythroderma0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent98
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1.98
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0001019HP:0001019Erythroderma0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0001019HP:0001019Erythroderma0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0001019HP:0001019Erythroderma0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0001019HP:0007381Congenital exfoliative erythroderma1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001019HP:0007381Congenital exfoliative erythroderma1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001019HP:0007381Congenital exfoliative erythroderma1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001019HP:0007381Congenital exfoliative erythroderma1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001019HP:0007381Congenital exfoliative erythroderma1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001019HP:0007381Congenital exfoliative erythroderma1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001019HP:0007381Congenital exfoliative erythroderma1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001019HP:0007381Congenital exfoliative erythroderma1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional


Genes (62) :ABCA12 ADA ADAM17 ALOX12B ALOXE3 AP1B1 ASPRV1 CARD14 CARS1 CD247 CD28 CD3D CD3E CDSN CERS3 CHD7 CTLA4 CYP4F22 DCLRE1C DIP2B DSG1 EBP ELOVL4 ERCC2 ERCC3 EXTL3 FOXP3 GJB2 GJB3 GTF2E2 GTF2H5 IL2RA IL2RG IL7R KIT KRT1 KRT10 LIG4 LIPN LSS MBTPS2 MPDU1 MPLKIP NIPAL4 PNPLA1 PRF1 RAG1 RAG2 RBCK1 RMRP RNF113A SDR9C7 SLC27A4 SPINK5 STX11 STXBP2 SULT2B1 TARS1 TGM1 TNFRSF1B TOM1 UNC13D

Diseases (44) :ORPHA:79394 ORPHA:457 ORPHA:313 ORPHA:39041 OMIM:614328 OMIM:242150 ORPHA:2897 ORPHA:33364 OMIM:610163 ORPHA:169160 ORPHA:3162 OMIM:270300 OMIM:615023 OMIM:604777 OMIM:603554 OMIM:136630 OMIM:615508 OMIM:302960 ORPHA:35173 OMIM:133190 OMIM:601675 OMIM:617425 OMIM:304790 OMIM:602540 OMIM:133200 OMIM:606367 ORPHA:169154 ORPHA:280785 ORPHA:312 OMIM:113800 OMIM:609165 OMIM:618840 OMIM:308205 OMIM:609180 OMIM:612281 OMIM:615024 ORPHA:540 OMIM:615895 OMIM:608649 ORPHA:634 OMIM:256500 ORPHA:100976 OMIM:242300 OMIM:619510
 

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