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Gene: Cers3 MGI:2681008

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ceramide synthase 3

Synonyms:

T3L, related to TRH3, LOC233330, CerS3, 4930550L11Rik, Lass3

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 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.

Human diseases associated with Cers3 (2 diseases)
Human diseases predicted to be associated with Cers3 (466 diseases)

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

Disease	Similarity of phenotypes	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	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
Dermatoleukodystrophy	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
Porokeratosis	Hyperkeratosis, Cutaneous photosensitivity, Pruritus	ORPHA:79358
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Chromomycosis	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
Chikungunya	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
Cystinosis	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
Dermatomyositis	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
Cryptosporidiosis	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
Mycetoma	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
Vipoma	Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Erythema, Intermittent ja...	ORPHA:97282
Shigellosis	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
Glucagonoma	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
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Fucosidosis	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
Oligomeganephronia	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
Monilethrix	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
Cholera	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
Microsporidiosis	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
Melas	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
Leprechaunism	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
Leprosy	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

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 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
Cers3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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