Not currently registered for phenotyping at IMPC

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

Gene Summary

ceramide synthase 3
T3L,  related to TRH3,  LOC233330,  CerS3,  4930550L11Rik,  Lass3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Cers3 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.

The table below shows human diseases associated to Cers3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma OMIM:615023
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thrive ORPHA:79394

The table below shows human diseases predicted to be associated to Cers3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Pruritus, Porokeratosis ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Acquired Ichthyosis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infectio... ORPHA:454
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce... ORPHA:498359
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema ORPHA:2337
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Onychomycosis, Palmoplantar hyperkeratosis OMIM:617574
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Erythema OMIM:617525
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid der... ORPHA:64745
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Inflammatory abnormality of the skin, Erythema ORPHA:3406
Epidermolytic Palmoplantar Keratoderma
Localized epidermolytic hyperkeratosis, Eczema, Palmoplantar keratoderma, Erythema ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Classic Mycosis Fungoides
Skin rash, Pruritus, Hyperkeratosis, Erythema, Edema, Eczema, Skin ulcer, Dry skin ORPHA:2584
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-re... OMIM:148730
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly, Dry skin OMIM:212360
Lamellar Ichthyosis
Pruritus, Ichthyosis, Hyperkeratosis, Lack of skin elasticity, Erythroderma, Dehydration, Sepsis,... ORPHA:313
Erythrokeratodermia Variabilis
Skin rash, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss, Erythema, Cutaneous p... ORPHA:317
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosif... ORPHA:312
Hypotrichosis 6
Follicular hyperkeratosis, Pruritus, Erythema OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma OMIM:615522
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Dermatitis, Atopic
Pruritus, Ichthyosis, Atopic dermatitis, Facial erythema, Eczema, Recurrent skin infections, Pall... OMIM:603165
Idiopathic Localized Lipodystrophy
Pruritus, Morphea, Scaling skin, Erythema, Reduced subcutaneous adipose tissue, Scleroderma, Infl... ORPHA:90158
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Pruritus, Erythema ORPHA:33314
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Acral Self-Healing Collodion Baby
Edema of the dorsum of hands, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, ... ORPHA:281127
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent bronchiolitis, Dehydration, Edema, Failure to thrive, Recurrent pneumonia OMIM:616069
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Ort... OMIM:613943
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Urticaria, Erythema OMIM:154800
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Ichthyosis, Perioral erythema OMIM:248300
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus, Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blo... ORPHA:280779
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis, Macular telangiectasia ORPHA:69125
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Parakeratosis ORPHA:83453
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Chilblain Lupus
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Cutis marmorata, Ski... ORPHA:90280
Basan Syndrome
Hyperkeratosis, Ectodermal dysplasia OMIM:129200
Reticular Dysgenesis
Skin rash, Weight loss, Dehydration, Failure to thrive, Sepsis, Recurrent respiratory infections,... ORPHA:33355
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Pruritus, Recurrent otitis media, Onychomycosis, Recurrent sinopulmonary infectio... OMIM:614468
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Erythema, Edema ORPHA:455
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Pruritus, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Erythema, Urticaria, Dry skin ORPHA:816
Familial Cold Urticaria
Pruritus, Erythema, Dehydration, Polydipsia, Urticaria ORPHA:47045
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Palmar hyperkeratosis, Skin fragility with non-scarring blistering, Pla... ORPHA:79399
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections, Erythema ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Cutaneous Small Vessel Vasculitis
Skin rash, Purpura, Erythema, Cutis marmorata, Recurrent skin infections, Urticaria ORPHA:889
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Inflammatory abnormality of the skin... ORPHA:90159
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Dehydration, Congenital ichthyosiform erythroderma, Rec... ORPHA:457
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Acral Peeling Skin Syndrome
Ichthyosis, Scaling skin, Erythema, Excessive wrinkling of palmar skin, Eczema ORPHA:263534
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Bullous Impetigo
Erythema, Pustule, Sepsis, Recurrent bacterial skin infections ORPHA:36237
Bullous Pemphigoid
Weight loss, Erythema, Recurrent infections, Eczema, Psoriasiform dermatitis, Urticaria ORPHA:703
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous... ORPHA:79147
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Bazex Syndrome
Pruritus, Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Scaling skin, Edema, Pa... ORPHA:166113
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Erythema ORPHA:90026
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Hypertriglyceridemia, Edema, Eczema OMIM:177000
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Erythema ORPHA:31112
Netherton Syndrome
Skin rash, Ichthyosis, Acanthosis nigricans, Erythroderma, Dehydration, Recurrent infections, Ecz... ORPHA:634
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de... OMIM:147060
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Pemphigus Foliaceus
Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Congenital ichthyosiform ery... OMIM:242100
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Edema, Cutaneous photosensitivity, Eczema ORPHA:79278
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Dermatitis Herpetiformis
Pruritus, Erythema, Edema, Eczema, Skin vesicle, Urticaria ORPHA:1656
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Scaling skin, Erythema, Dry skin OMIM:614457
Netherton Syndrome
Erythroderma, Recurrent infections, Failure to thrive, Parakeratosis, Hypernatremic dehydration, ... OMIM:256500
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Erythema, Fragile skin, Crusting erythematous der... ORPHA:158673
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Prolidase Deficiency
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent cystitis, Crusting erythe... ORPHA:742
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Hyperkeratosis, Recurrent urinary tract infections, Erythema, Recurrent infe... ORPHA:1334
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Mal De Meleda
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... ORPHA:87503
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis OMIM:602723
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Necrobiosis Lipoidica
Telangiectasia of the skin, Erythema, Fragile skin, Skin ulcer, Inflammatory abnormality of the skin ORPHA:542592
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Erythema OMIM:254400
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Erythema ORPHA:306731
Diarrhea 2, With Microvillus Atrophy
Dehydration, Death in infancy OMIM:251850
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Peripheral edema, Pedal edema, Recurr... ORPHA:90186
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Failure to thrive, Dry skin OMIM:609180
Psoriasis 14, Pustular
Erythema, Pustule, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Erythema Of Acral Regions
Erythema OMIM:227000
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythema OMIM:270300
Keratolytic Winter Erythema
Erythema OMIM:148370
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Acrokeratosis ORPHA:38
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa ORPHA:79148
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Autosomal Agammaglobulinemia
Skin rash, Meningitis, Dehydration, Recurrent infections, Failure to thrive, Sepsis, Recurrent sk... ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Failure to thrive OMIM:618958
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Pustule, Nail bed telangiectasia, Neutrophilic infiltration of the skin, Vas... ORPHA:535
Central Diabetes Insipidus
Dehydration, Polydipsia, Failure to thrive, Weight loss ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Atopic dermatitis, Recurrent upper and lower respiratory tract in... ORPHA:171876
Transient Neonatal Diabetes Mellitus
Dehydration, Small for gestational age, Failure to thrive ORPHA:99886
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Erythroderma, Patchy palmoplantar hyperkeratosis OMIM:133200
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Ichthyosis, Erythema OMIM:609313
Hyperkeratosis, Cutaneous photosensitivity, Pruritus ORPHA:79358
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Pruritus, Hyperparakeratosis, Lymphedema, Hyperkeratosis, Hyperkeratotic papule, Vascular skin ab... ORPHA:182
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Peeling Skin Syndrome 4
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607936
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration, Failure to thrive OMIM:143860
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Parakeratosis, Congenital nonbullous icht... OMIM:612281
Darier Disease
Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Thickened ... ORPHA:218
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perioral erythema, Erythroderma, Failure to thrive, Perianal erythema OMIM:614328
Granulomatous Slack Skin
Redundant skin, Cutis laxa, Erythema ORPHA:33111
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Telangiectasia, Erythema, Malar rash, Recurrent infections, Cutis marmorata, ... OMIM:615934
Lipoid Proteinosis
Pustule, Hyperkeratosis, Dysphagia, Thickened skin, Recurrent respiratory infections, Acne ORPHA:530
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Dysphagia OMIM:616029
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Pityriasis Rubra Pilaris
Pruritus, Ichthyosis, Pustule, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, ... ORPHA:2897
Bathing Suit Ichthyosis
Ichthyosis, Erythroderma, Scaling skin, Parakeratosis, Thickened skin, Congenital nonbullous icht... ORPHA:100976
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Congenital Lethal Erythroderma
Ichthyosis, Death in infancy, Congenital exfoliative erythroderma, Failure to thrive, Urticaria, ... ORPHA:1954
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Parakeratosis, Perioral hyperkeratosis, Palmo... OMIM:619208
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Scaling skin, Erythema, Reduced subcutaneous adipose tissue, Inf... ORPHA:90156
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Eczema, Cutis laxa, Ichthyosis OMIM:612379
Combined Malonic And Methylmalonic Acidemia
Dehydration, Failure to thrive ORPHA:289504
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Lichen Planopilaris
Hyperkeratosis, Pruritus, Skin ulcer ORPHA:525
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Failure to thrive ORPHA:28
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin ORPHA:3019
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Dehydration, Recurrent respiratory infections, Failure to thrive OMIM:264350
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:284426
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ichthyosis, Death in infancy, Jaundice, Dehydration, Failure to thrive OMIM:208085
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma OMIM:612843
Pemphigus Vulgaris
Acantholysis, Weight loss, Recurrent cutaneous abscess formation, Recurrent infections, Urticaria ORPHA:704
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, P... OMIM:613576
Snakebite Envenomation
Pseudobulbar paralysis, Erythema, Neuromuscular dysphagia, Edema, Angioedema, Ecchymosis ORPHA:449285
Ichthyosis, Hystrix-Like, With Deafness
Hyperkeratosis, Erythroderma, Ichthyosis, Palmoplantar keratoderma OMIM:602540
Noonan Syndrome 8
Polyhydramnios, Hyperkeratosis, Pleural effusion, Palmoplantar cutis laxa, Failure to thrive, Ecz... OMIM:615355
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hyperkeratosis, Telangiectasia, Telangiectasia of the skin ORPHA:79279
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar h... OMIM:300918
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Flushing, Erythema, Palmoplantar hy... OMIM:259100
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Dehydration, Failure to thrive, Increased circulating... OMIM:610600
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Recurrent otitis media OMIM:618625
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Adult-Onset Still Disease
Skin rash, Pruritus, Joint swelling, Erythema, Meningitis, Recurrent pharyngitis ORPHA:829
X-Linked Dominant Chondrodysplasia Punctata
Congenital ichthyosiform erythroderma, Erythema ORPHA:35173
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Immunodeficiency 23
Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylococcus aureus infe... OMIM:615816
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Generalized ichthyosis, Cutis laxa, Scaling skin, Dry skin ORPHA:2269
Complex Regional Pain Syndrome
Edema of the upper limbs, Dry skin, Pedal edema, Erythema ORPHA:83452
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Skin ulcer, Palmoplantar keratoderma, Erythema ORPHA:659
Secondary Short Bowel Syndrome
Polyphagia, Steatorrhea, Weight loss, Dehydration, Failure to thrive, Sepsis ORPHA:95427
Polyarteritis Nodosa
Skin ulcer, Cutis marmorata, Weight loss, Erythema ORPHA:767
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Odontoonychodermal Dysplasia
Hypergranulosis, Erythema, Plantar hyperkeratosis, Orthokeratosis, Dry skin OMIM:257980
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Recurrent ... OMIM:615508
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis OMIM:604117
Hypercalcemia, Infantile, 1
Dehydration, Failure to thrive, Weight loss OMIM:143880
Glutamine Deficiency, Congenital
Neonatal death, Recurrent respiratory infections, Erythema OMIM:610015
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:614594
Juvenile Dermatomyositis
Skin rash, Pruritus, Palpebral edema, Dysphagia, Weight loss, Erythema, Telangiectasia of the ski... ORPHA:93672
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Desquamation of skin soon after birth, Congenital ichthyosiform erythroderma, Parak... OMIM:242300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Bruising susceptibility ORPHA:300179
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Streaks of hyperkeratos... OMIM:148700
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Predominantly lower limb lymphedema, Erysipelas ORPHA:79452
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Palmar hyperkeratosis, Skin fragility with non-scarring blistering, Cutane... ORPHA:79397
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Erythroderma, Weight loss, Erythema, Encephalitis, Angioedema ORPHA:139402
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized abnormality of skin, Palmoplantar keratoderma, Erythema, Fragile skin, Recurrent infe... ORPHA:79396
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Weight loss ORPHA:103910
Early-Onset Familial Hypoaldosteronism
Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Failure ... ORPHA:556030
Immunoglobulin A Vasculitis
Skin rash, Pustule, Purpura, Urticaria, Vascular skin abnormality, Erythema, Edema, Encephalitis,... ORPHA:761
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Scaling skin, Palmoplantar keratoderma OMIM:616295
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Erythema ORPHA:48377
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Overweight, Recurrent respiratory infections, Dry skin ORPHA:486815
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2698
Fixed Drug Eruption
Crusting erythematous dermatitis, Generalized abnormality of skin, Erythema ORPHA:293812
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Erythroderma, Parakeratosis, Orthokeratosis, Congenital nonbullous icht... OMIM:604777
Hennekam-Beemer Syndrome
Pruritus, Telangiectasia of the skin, Erythema, Failure to thrive, Thickened skin, Skin vesicle, ... ORPHA:2135
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Failure to thrive OMIM:602722
Kid Syndrome
Ichthyosis, Generalized hyperkeratosis, Palmoplantar keratoderma, Recurrent bacterial skin infect... ORPHA:477
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Failure to thrive ORPHA:79312
Pityriasis Rubra Pilaris
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Orthokeratosis OMIM:173200
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Facial erythema, Purpura, Edema, Striae distensae, Abdominal obesity, Bruisin... OMIM:219090
Nodular Non-Suppurative Panniculitis
Edema, Weight loss, Erythema ORPHA:33577
Toxic Epidermal Necrolysis
Acantholysis, Dysphagia, Weight loss, Erythema, Sepsis, Polydipsia, Recurrent respiratory infecti... ORPHA:537
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ichthyosis, Purpura, Hyperkeratosis, Dysphagia, Decreased body weight, Desquamati... OMIM:608013
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Failure to thrive OMIM:251120
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Dehydration, Failure to thrive OMIM:177735
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hyperkeratosis, Death in infancy, Recurrent infections, Failure to thrive, Dry skin OMIM:614576
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Pyoderma gangrenosum, Erythema OMIM:608068
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Parakeratosis OMIM:308050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Recurrent infections, Bronchiolitis OMIM:614878
Acrodermatitis Enteropathica
Pustule, Generalized abnormality of skin, Weight loss, Erythema, Failure to thrive, Skin ulcer, D... ORPHA:37
Beta-Ketothiolase Deficiency
Oral aversion, Weight loss, Dehydration, Edema, Pallor ORPHA:134
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Erythroderma, Recurrent infections, Small for gestational age, Cutaneous photosen... OMIM:601675
Angioedema, Hereditary, 1
Intestinal edema, Erythema, Angioedema, Pharyngeal edema, Laryngeal edema OMIM:106100
Hereditary Acrokeratotic Poikiloderma
Pustule, Ichthyosis, Erythema, Telangiectasia of the skin, Xerostomia, Eczema, Urticaria, Skin ul... ORPHA:2907
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Generalized abnormality of skin, Recurrent gastroenteritis, Recurrent bacte... ORPHA:294023
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Acne inversa, Orthokeratosis OMIM:617337
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Renal Hypoplasia
Dehydration, Polydipsia, Recurrent urinary tract infections, Small for gestational age ORPHA:93101
Sunct Syndrome
Palpebral edema, Flushing, Facial erythema, Facial edema ORPHA:57145
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Dry skin OMIM:613707
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Failure to thrive OMIM:203400
Glucose/Galactose Malabsorption
Hypertonic dehydration, Failure to thrive OMIM:606824
Stevens-Johnson Syndrome
Acantholysis, Dysphagia, Weight loss, Erythema, Sepsis, Recurrent respiratory infections ORPHA:36426
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Tempi Syndrome
Facial erythema, Telangiectasia, Ascites, Transudative pleural effusion ORPHA:284227
Skin rash, Pruritus, Joint swelling, Pedal edema, Maculopapular exanthema, Erythema, Facial edema... ORPHA:324625
Propionic Acidemia
Eczema, Dehydration, Failure to thrive OMIM:606054
Fountain Syndrome
Erythema, Cutis marmorata, Facial edema ORPHA:3219
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Fragile skin, Hyperkeratotic papule, Skin vesicle, Pruritus ORPHA:79410
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Hyperkeratosis, Redundant skin, Failure to thrive in infanc... ORPHA:3071
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism OMIM:214700
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Neonatal Lupus Erythematosus
Skin rash, Hyperkeratosis, Maculopapular exanthema, Malar rash, Parakeratosis, Cutaneous photosen... ORPHA:398124
Dehydration, Polydipsia, Failure to thrive ORPHA:213
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Pallor, Facial erythema ORPHA:439218
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Failure to thrive OMIM:560000
Xeroderma Pigmentosum
Conjunctival telangiectasia, Hyperkeratosis, Erythema, Telangiectasia of the skin, Failure to thr... ORPHA:910
Acrocyanosis, Pruritus, Weight loss, Erythema, Telangiectasia of the skin, Edema, Periorbital ede... ORPHA:221
Wolcott-Rallison Syndrome
Decreased body weight, Jaundice, Dehydration, Recurrent infections, Ascites ORPHA:1667
Popov-Chang syndrome
Hyperkeratosis, Recurrent otitis media, Failure to thrive, Dry skin OMIM:618428
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Failure to thrive OMIM:251000
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Enteric Anendocrinosis
Dehydration ORPHA:83620
Isovaleric Acidemia
Dehydration OMIM:243500
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Dehydration, Failure to thrive OMIM:300200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Hidrotic ectodermal dysplasia ORPHA:1883
Dysphagia, Dehydration, Failure to thrive, Weight loss ORPHA:1549
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Juvenile Idiopathic Arthritis
Skin rash, Generalized hyperkeratosis, Joint swelling, Pericardial effusion, Thickened skin, Psor... ORPHA:92
Pilodental Dysplasia With Refractive Errors
Ectodermal dysplasia, Follicular hyperkeratosis OMIM:262020
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive OMIM:615279
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Kanzaki Disease
Lip telangiectasia, Lymphedema, Hyperkeratosis, Telangiectasia of the oral mucosa, Angiokeratoma ... OMIM:609242
Corneodermatoosseous Syndrome
Thickened skin, Palmoplantar keratoderma, Erythema ORPHA:3194
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Joint swelling, Hyperkeratosis, Failure to thrive in infancy OMIM:612852
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Pseudobulbar paralysis, Erythema ORPHA:99
Microscopic Polyangiitis
Skin rash, Erythema, Cutis marmorata, Subcutaneous hemorrhage, Skin ulcer ORPHA:727
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Xerostomia, Failure to thrive, Eczema, Dry skin ORPHA:238468
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Hyperkeratosis, Dysphagia, Erythema, Cutaneous photosensitivity, Recurr... ORPHA:2908
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Cutis marmorata, Failure to thrive in infancy, Recurrent pneumonia OMIM:301220
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Jaundice, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Lymphedema, Hyperkeratosis, Telangiectasia of the skin, Telangiectasia of the... ORPHA:79280
Glucose-Galactose Malabsorption
Dehydration, Failure to thrive, Weight loss ORPHA:35710
Incontinentia Pigmenti
Skin rash, Hyperkeratosis, Telangiectasia of the skin, Erythema, Encephalitis, Skin ulcer ORPHA:464
Prominent superficial veins, Cobblestone-like hyperkeratosis, Recurrent fungal infections, Recurr... ORPHA:2583
Rheumatic Fever
Recurrent pharyngitis, Pallor, Erythema ORPHA:3099
Proteasome-Associated Autoinflammatory Syndrome 4
Edema, Erythema OMIM:619183
Palmoplantar Carcinoma, Multiple Self-Healing
Ectodermal dysplasia, Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Proteus Syndrome
Hyperkeratosis OMIM:176920
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Recurrent respiratory infections ORPHA:1839
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Erythema, Intermittent ja... ORPHA:97282
Purpura, Failure to thrive in infancy, Dehydration, Sepsis, Urticaria ORPHA:810
Ectodermal Dysplasia-Skin Fragility Syndrome
Pruritus, Chapped lip, Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, Fragile... ORPHA:158668
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Pruritus, Weight loss, Steatorrhea, Jaundice, Dehydration, Hyp... ORPHA:275761
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration, Polydipsia, Failure to thrive OMIM:304800
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Recurrent respiratory infections, Skin ulcer ORPHA:1806
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Dry skin, Failure to thrive, Palmoplantar hyperkeratosis OMIM:617388
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Rothmund-Thomson Syndrome Type 2
Facial erythema, Porokeratosis, Erythema, Facial edema, Small for gestational age, Plantar hyperk... ORPHA:221016
Donohue Syndrome
Hyperkeratosis, Severe failure to thrive, Recurrent infections, Acanthosis nigricans OMIM:246200
Alternating Hemiplegia Of Childhood
Dysphagia, Flushing, Oral-pharyngeal dysphagia, Dehydration, Failure to thrive, Pallor ORPHA:2131
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Jaundice, Dehydration, Edema, Pallor ORPHA:20
Yellow Fever
Meningitis, Dehydration, Jaundice, Encephalitis ORPHA:99829
Riddle Syndrome
Conjunctival telangiectasia, Recurrent sinusitis, Scaling skin, Recurrent viral infections, Weigh... ORPHA:420741
Lig4 Syndrome
Cutaneous photosensitivity, Telangiectasia of the skin, Erythema ORPHA:99812
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Incontinentia Pigmenti
Hyperkeratosis, Pallor, Erythema OMIM:308300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Oligohydramnios, Ectodermal dysplasia, Erythroderma, Scaling skin, Follicular hyperkeratosis, Dry... OMIM:308205
Chronic Graft Versus Host Disease
Poor wound healing, Morphea, Pleural effusion, Dysphagia, Weight loss, Erythema, Xerostomia, Recu... ORPHA:99921
Ifap Syndrome 2
Perioral erythema, Ichthyosis follicularis OMIM:619016
Congenital Tufting Enteropathy
Dehydration, Failure to thrive, Steatorrhea, Weight loss ORPHA:92050
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma OMIM:615023
Skin rash, Pruritus, Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Stea... ORPHA:97280
Methylmalonic Aciduria, Cblb Type
Dehydration, Failure to thrive OMIM:251110
Sialidosis Type 1
Hyperkeratosis, Vascular skin abnormality ORPHA:812
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Kikuchi-Fujimoto Disease
Skin rash, Pruritus, Pustule, Palpebral edema, Pleural effusion, Vasculitis in the skin, Weight l... ORPHA:50918
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Palpebral edema, Lymphedema, Epidermal h... OMIM:137940
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Rothmund-Thomson Syndrome Type 1
Facial erythema, Porokeratosis, Facial edema, Small for gestational age, Plantar hyperkeratosis, ... ORPHA:221008
Methylmalonic Aciduria, Cbla Type
Dehydration, Failure to thrive OMIM:251100
Chime Syndrome
Hyperkeratosis, Ichthyosis, Skin ulcer, Erythema ORPHA:3474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ichthyosis, Hyperkeratosis, Erythema, Recurrent infections, Failure to thrive, Recurrent bacteria... ORPHA:2273
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Recurrent upper respiratory tract infections, Acanthosis nigricans, De... OMIM:256040
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thrive ORPHA:79394
Ullrich Congenital Muscular Dystrophy 1
Slender build, Follicular hyperkeratosis, Recurrent lower respiratory tract infections, Failure t... OMIM:254090
Reactive Arthritis
Pustule, Joint swelling, Hyperkeratosis, Recurrent urinary tract infections, Weight loss ORPHA:29207
Bone Marrow Failure Syndrome 3
Hyperkeratosis, Eczema, Recurrent infections, Failure to thrive OMIM:617052
Follicular hyperkeratosis ORPHA:573
Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis, Failure to thrive ORPHA:349
Warburg-Cinotti Syndrome
Follicular hyperkeratosis, Poor wound healing, Joint swelling, Erythema OMIM:618175
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Dehydration, Failure to thrive ORPHA:90791
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Erythema, Erysipelas, Periorbital edema, Recurrent pharyngitis, Bruising susceptibility ORPHA:32960
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Pachyonychia Congenita
Palmoplantar keratoderma, Palmar hyperkeratosis, Follicular hyperkeratosis, Linear arrays of macu... ORPHA:2309
Familial Tumoral Calcinosis
Skin rash, Erythema ORPHA:53715
Familial Mediterranean Fever
Skin rash, Pedal edema, Erythema, Meningitis, Erysipelas, Ascites ORPHA:342
Werner Syndrome
Slender build, Prematurely aged appearance, Premature graying of hair, Hyperkeratosis, Subcutaneo... ORPHA:902
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Cardiofaciocutaneous Syndrome
Ichthyosis, Palmoplantar keratoderma, Lymphedema, Redundant skin, Hyperkeratosis, Failure to thri... ORPHA:1340
Dehydration, Polydipsia, Small for gestational age ORPHA:2260
Pearson Syndrome
Hydrops fetalis, Dysphagia, Steatorrhea, Severe infection, Corneal stromal edema, Dehydration, Sm... ORPHA:699
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Perifollicular hyperkeratosis OMIM:158000
Localized Scleroderma
Thickened skin, Erythema ORPHA:90289
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis, Acrokeratosis OMIM:124200
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis OMIM:148210
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Pyoderma, Fragile skin, Dehydration, Edema, Failure to thrive... ORPHA:79404
Nephrogenic Diabetes Insipidus
Polyhydramnios, Polydipsia, Hypernatremic dehydration, Failure to thrive ORPHA:223
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Hypercholesterolemia, Palmoplantar keratoderma, Hypertriglyceridem... OMIM:610644
Palmoplantar cutis laxa, Dehydration ORPHA:173
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Dehydration, Hydrops fetalis, Failure to thrive ORPHA:79282
Bronchiolitis, Weight loss, Dehydration, Encephalitis, Cachexia, Sepsis, Brain abscess ORPHA:2552
Alacrima, Achalasia, And Mental Retardation Syndrome
Hyperkeratosis, Dysphagia OMIM:615510
Ramon Syndrome
Hyperkeratosis, Angiokeratoma, Telangiectasia, Decreased body weight OMIM:266270
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Joint swelling, Death in infancy, Hyperaldosteronism, Dehydration, Failure ... ORPHA:534
Infantile Nephropathic Cystinosis
Dehydration, Polydipsia, Failure to thrive ORPHA:411629
Bartter Syndrome, Type 3
Dehydration, Hyperaldosteronism OMIM:607364
Blau Syndrome
Skin rash, Ichthyosis, Joint swelling, Erythema, Xerostomia, Erythema nodosum, Skin ulcer, Dry skin ORPHA:90340
Cystic Fibrosis
Steatorrhea, Recurrent bronchopulmonary infections, Dehydration, Failure to thrive, Recurrent pne... OMIM:219700
Neuroleptic Malignant Syndrome
Dysphagia, Sepsis, Dehydration ORPHA:94093
Distal Renal Tubular Acidosis
Dehydration, Polydipsia, Failure to thrive ORPHA:18
Noonan Syndrome 10
Hyperkeratosis, Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa OMIM:616564
Failure to thrive, Erythema ORPHA:550
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Ichthyosis, Hyperkeratosis, Failure to thrive, Eczema, Large for gestational age OMIM:607721
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Zollinger-Ellison Syndrome
Jaundice, Increased circulating cortisol level, Weight loss, Erythema ORPHA:913
Noonan Syndrome 2
Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis laxa OMIM:605275
Pyruvate Carboxylase Deficiency
Dehydration, Failure to thrive ORPHA:3008
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Ichthyosis, Atopic dermatitis, Hyperkeratosis, Failure to thrive OMIM:115150
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Hyperaldosteronism, Dehydration, Small for gestational age, Failure to thrive, Po... OMIM:241200
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Dehydration, Failure to thrive ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Dehydration, Failure to thrive ORPHA:289548
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Failure to thrive, Weight loss ORPHA:99885
Infantile Bartter Syndrome With Sensorineural Deafness
Polyhydramnios, Hyperaldosteronism, Dehydration, Small for gestational age, Failure to thrive, Se... ORPHA:89938
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Bruising susceptibility, Weight loss ORPHA:79430
Cystinosis, Nephropathic
Dysphagia, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dehydration, Polydipsia OMIM:219800
Focal Dermal Hypoplasia
Telangiectasia of the skin, Erythema ORPHA:2092
Juvenile Nephropathic Cystinosis
Dehydration, Polydipsia, Failure to thrive ORPHA:411634
Dend Syndrome
Dehydration ORPHA:79134
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Hyperaldosteronism, Dehydration, Small for gestational age, Failure to thrive OMIM:601678
Fabry Disease
Conjunctival telangiectasia, Angiokeratoma, Lymphedema, Hyperkeratosis, Telangiectasia of the ski... ORPHA:324
Lymphatic Filariasis
Opportunistic bacterial infection, Lymphedema, Hyperkeratosis, Predominantly lower limb lymphedem... ORPHA:2035
Scorpion Envenomation
Purpura, Edema, Pulmonary edema, Erythema ORPHA:466677
Kawasaki Disease
Skin rash, Palmoplantar erythema, Meningitis, Jaundice, Edema, Recurrent pharyngitis ORPHA:2331
Colchicine Poisoning
Dehydration ORPHA:31824
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Oligohydramnios, Stillbirth, Hyperkeratosis, Prolonged neonatal jaundice, Failure to thrive, Dry ... OMIM:210710
Proximal Renal Tubular Acidosis
Dehydration, Polydipsia, Failure to thrive ORPHA:47159
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Increased circulating cortisol level, Erythema ORPHA:276152
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Weight loss, Dehydration, Failure to thrive, Acne ORPHA:90794
Acanthosis nigricans, Hyperkeratosis, Decreased body weight, Hyperaldosteronism, Failure to thriv... ORPHA:508
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Telangiectasia of the skin, Hyperparakeratosis ORPHA:276280
Multiple Endocrine Neoplasia Type 1
Dehydration, Increased circulating cortisol level, Weight loss, Primary hypercortisolism ORPHA:652
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Recurrent otitis media, Recurren... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Recurrent otitis media, Recurren... ORPHA:363958
Eec Syndrome
Hyperkeratosis, Xerostomia, Dry skin ORPHA:1896
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Follicular hyperkeratosis, Bruising susceptibility OMIM:614557
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Erythema ORPHA:2556
Atypical Werner Syndrome
Prematurely aged appearance, Premature graying of hair, Hyperkeratosis, Subcutaneous calcificatio... ORPHA:79474
Relapsing Polychondritis
Purpura, Erythema ORPHA:728
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Fragile skin, Recurrent respiratory infections, Erythema OMIM:614748
Restrictive Dermopathy, Lethal
Polyhydramnios, Epidermal hyperkeratosis, Prominent superficial blood vessels, Stillbirth OMIM:275210
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Failure... ORPHA:83617
Hyperkeratosis, Acral ulceration, Penetrating foot ulcers ORPHA:548
6Q Terminal Deletion Syndrome
Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Cowden Syndrome
Failure to thrive, Generalized hyperkeratosis, Mucosal telangiectasiae, Palmoplantar keratoderma ORPHA:201
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Xerostomia, Ectodermal dysplasia, Recurrent respiratory infections OMIM:129900
Kyphoscoliotic Ehlers-Danlos Syndrome
Follicular hyperkeratosis, Bruising susceptibility, Poor wound healing, Fragile skin ORPHA:536545
Restrictive Dermopathy
Polyhydramnios, Generalized hyperkeratosis, Dermal translucency, Scaling skin, Epidermal hyperker... ORPHA:1662
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Xerostomia, Ectodermal dysplasia OMIM:604292
Proteus Syndrome
Generalized hyperkeratosis, Lymphedema, Vascular skin abnormality, Abnormal subcutaneous fat tiss... ORPHA:744
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening ORPHA:73223


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 Cers3

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 Cers3.

No publications found that use IMPC mice or data for Cers3.

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MGI Allele Allele Type Produced
Cers3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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