Phenotype: Erythroderma (HP:0001019)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: CYP4F22
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: TGM1
disease_id: OMIM:242300
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
gene_symbol: TGM1
disease_id: ORPHA:100976
disease_name: Bathing suit ichthyosis
BSI
gene_symbol: TGM1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: TGM1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: KRT10
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT10
disease_id: OMIM:620150
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
gene_symbol: KRT10
disease_id: OMIM:609165
disease_name: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR
gene_symbol: KRT1
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT1
disease_id: OMIM:113800
disease_name: EPIDERMOLYTIC HYPERKERATOSIS
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: NIPAL4
disease_id: OMIM:612281
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
gene_symbol: NIPAL4
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: NIPAL4
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: CARD14
disease_id: ORPHA:2897
disease_name: Pityriasis rubra pilaris
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: ABCA12
disease_id: ORPHA:457
disease_name: Harlequin ichthyosis
Autosomal congenital ichthyosis, Harlequin type
HI
Ichthyosis congenita, Harlequin type
gene_symbol: ABCA12
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ABCA12
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: DIP2B
disease_id: OMIM:136630
disease_name: MENTAL RETARDATION, FRA12A TYPE
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD3D
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD3E
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: LSS
disease_id: OMIM:618840
disease_name: ALOPECIA-MENTAL RETARDATION SYNDROME 4
gene_symbol: GJB3
disease_id: OMIM:133200
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: CERS3
disease_id: OMIM:615023
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
gene_symbol: CERS3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: PNPLA1
disease_id: OMIM:615024
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
gene_symbol: PNPLA1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ALOX12B
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ALOX12B
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: SULT2B1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOXE3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ALOXE3
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SDR9C7
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: SDR9C7
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: ASPRV1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: LIPN
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy