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Gene: Gpx8 MGI:1916840

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

glutathione peroxidase 8 (putative)

Synonyms:

2310016C16Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gpx8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gpx8 (0 diseases)
Human diseases predicted to be associated with Gpx8 (354 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gpx8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis	OMIM:615022
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Epidermolytic Hyperkeratosis 1	Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo...	OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Chilblain Lupus 2	Chilblains	OMIM:614415
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Ulerythema Ophryogenesis	Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis	ORPHA:3406
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus	OMIM:618084
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Congenital Ichthyosiform Erythroderma	Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroder...	OMIM:609165
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital nonbullous i...	ORPHA:100976
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Ichthyosis	ORPHA:1954
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Ichthyosis Vulgaris	Eczematoid dermatitis, Ichthyosis	OMIM:146700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Ichthyosis	OMIM:618840
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis	ORPHA:254478
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Lamellar Ichthyosis	Pruritus, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media	ORPHA:313
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Netherton Syndrome	Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Congenital nonbullous ichthy...	OMIM:256500
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Bazex Syndrome	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans	ORPHA:166113
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis, Ichthyosis	ORPHA:3052
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis...	OMIM:603165
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis	OMIM:607903
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Classic Mycosis Fungoides	Pruritus, Hyperkeratosis, Skin rash, Eczema	ORPHA:2584
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Scleroderma, Morphea, Pruritus	ORPHA:90158
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragm...	ORPHA:218
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Netherton Syndrome	Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac...	ORPHA:634
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis	OMIM:618625
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper...	OMIM:616295
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis	ORPHA:90368
Erythrokeratodermia Variabilis	Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis	ORPHA:317
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma	ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hyperkeratosis, Ble...	OMIM:308800
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Ichthyosis	OMIM:242150
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash	ORPHA:1658
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Pustule, Acne	ORPHA:530
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis	ORPHA:83453
Sjögren-Larsson Syndrome	Hyperkeratosis, Inflammatory abnormality of the eye, Ichthyosis	ORPHA:816
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis	ORPHA:525
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Peeling Skin Syndrome 1	Pruritus, Erythroderma	OMIM:270300
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Erythroderma	OMIM:609180
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis	ORPHA:163525
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma	ORPHA:169160
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis	OMIM:614204
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti...	ORPHA:139402
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Omenn Syndrome	Pneumonia, Pruritus, Thickened skin, Thyroiditis, Erythroderma	ORPHA:39041
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Arthritis, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:615735
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Erythroderma	ORPHA:79456
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Eczema, Ichthyosis	OMIM:612379
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis	OMIM:615225
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Palmoplantar hyperkeratosis, Seborrheic dermatitis	OMIM:259100
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:224750
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Palmoplantar keratoderma, Blepharitis, Eczema	OMIM:618535
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan...	ORPHA:555905
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbullous ichthyosiform erythroderma, Ery...	OMIM:601675
Omenn Syndrome	Thickened skin, Pneumonia, Erythroderma	OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Chronic oral candidiasis	OMIM:606367
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Arthritis, Palmoplantar keratoderma, ...	ORPHA:2796
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Recurrent pneumonia, Hyperkeratosis, Palmoplantar keratoderma,...	OMIM:604173
Chromomycosis	Pruritus, Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot...	ORPHA:182
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis	ORPHA:540
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Cheilitis, Hepatitis, Hyperkeratosis	ORPHA:1334
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Inflammatory abnormality of the skin, Ichthyosis	OMIM:610768
Pachyonychia Congenita	Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato...	ORPHA:2309
Hypotrichosis And Recurrent Skin Vesicles	Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Noonan Syndrome 8	Hyperkeratosis, Eczema	OMIM:615355
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Pachyonychia Congenita 2	Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis	OMIM:167210
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma, Ichthyosis	ORPHA:35173
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke...	OMIM:617388
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis	ORPHA:36386
Chondrodysplasia Punctata 2, X-Linked Dominant	Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Erythrod...	OMIM:302960
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Biotinidase Deficiency	Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis	OMIM:253260
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth...	OMIM:148210
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis	OMIM:607626
Prolidase Deficiency	Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Crusting erythematous dermatitis	ORPHA:742
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma	ORPHA:169154
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Inflammation of the large intestine, Eczema, Erythroderma	OMIM:615895
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis	OMIM:246400
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections	ORPHA:90186
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Inflammatory abnormality of the eye	ORPHA:238468
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis	ORPHA:486815
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma	OMIM:617425
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis...	ORPHA:3260
Monosomy 22	Thickened skin, Seborrheic dermatitis, Scleroderma	ORPHA:96123
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine	OMIM:614576
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Keratoconjunctivitis sicca	ORPHA:1806
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis	OMIM:246200
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Keratoconjunctivitis sicca, Conjunctivitis, Ichthyosis	ORPHA:33364
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Keratitis, ...	OMIM:308205
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Aspiration pneumonia, Ichthyosis	OMIM:301072
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis	ORPHA:3071
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ...	OMIM:257980
Kindler Epidermolysis Bullosa	Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Palmop...	ORPHA:2908
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Follicul...	OMIM:158310
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:608013
Cardiofaciocutaneous Syndrome 1	Hyperkeratosis, Atopic dermatitis, Ichthyosis	OMIM:115150
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Eczema	OMIM:617052
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Incontinentia Pigmenti	Skin rash, Keratitis, Uveitis, Hyperkeratosis, Infectious encephalitis	ORPHA:464
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis	ORPHA:2035
Incontinentia Pigmenti	Keratitis, Hyperkeratosis, Maculopapular exanthema, Uveitis	OMIM:308300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis	ORPHA:369950
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis	OMIM:137940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis, Ichthyosis	OMIM:300868
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Orthokeratosis, Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma	OMIM:308050
Werner Syndrome	Hyperkeratosis	ORPHA:902
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis	OMIM:601812
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Eczema, Ichthyosis	OMIM:607721
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Cardiofaciocutaneous Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:1340
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
22Q11.2 Deletion Syndrome	Chronic otitis media, Arthritis, Acne, Seborrheic dermatitis	ORPHA:567
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis	OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis	OMIM:274000
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin	ORPHA:79430
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin, Keratitis, Blepharitis	ORPHA:910
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
Eec Syndrome	Keratitis, Hyperkeratosis, Blepharitis, Inflammatory abnormality of the eye	ORPHA:1896
Noonan Syndrome 10	Hyperkeratosis	OMIM:616564
Noonan Syndrome 2	Hyperkeratosis	OMIM:605275
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Eczema, Keratitis, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunctivitis, I...	ORPHA:2273
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363958
Chime Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:3474
Fabry Disease	Hyperkeratosis, Arthritis	ORPHA:324
Digeorge Syndrome	Acne, Seborrheic dermatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:188400
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Leprechaunism	Acanthosis nigricans, Thickened skin, Hyperkeratosis	ORPHA:508
Leprosy	Hyperkeratosis, Iritis, Uveitis	ORPHA:548
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Follicular hyperkeratosis	OMIM:225400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Blepharitis	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Blepharitis	OMIM:129900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis	OMIM:210710
Atypical Werner Syndrome	Hyperkeratosis	ORPHA:79474
Warburg-Cinotti Syndrome	Follicular hyperkeratosis	OMIM:618175
Restrictive Dermopathy	Generalized hyperkeratosis, Epidermal hyperkeratosis	ORPHA:1662
Restrictive Dermopathy 1	Epidermal hyperkeratosis	OMIM:275210
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis	ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gpx8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gpx8.

No publications found that use IMPC mice or data for Gpx8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gpx8^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Gpx8^{tm278561(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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