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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:

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

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 (496 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		Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H...	OMIM:615023
Congenital Non-Bullous Ichthyosiform Erythroderma		Failure to thrive, Ichthyosis, Pruritus, Erythroderma, Palmoplantar keratoderma	ORPHA:79394

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

Disease	Matching phenotypes	Source
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized abnormality of skin, Palmoplantar hyperkeratosis, Porokeratosis, Pruritus, Hyperkerat...	ORPHA:737
Ulerythema Ophryogenesis	Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hype...	ORPHA:3406
Porokeratosis Of Mibelli	Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Pruritus	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis	OMIM:617571
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ...	ORPHA:498359
Acquired Ichthyosis	Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar...	ORPHA:454
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus	ORPHA:2337
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus	OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 13	Onychomycosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis	OMIM:607602
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Onychomycosis, Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmop...	ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis	OMIM:617525
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus...	ORPHA:64745
Mal De Meleda	Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla...	ORPHA:87503
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis	ORPHA:79100
Classic Mycosis Fungoides	Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Edema, Skin ulcer	ORPHA:2584
Keratosis, Focal Palmoplantar And Gingival	Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Progressive Symmetric Erythrokeratodermia	Palmoplantar keratoderma, Erythema	ORPHA:316
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis	OMIM:212360
Lamellar Ichthyosis	Lack of skin elasticity, Dehydration, Sepsis, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Ery...	ORPHA:313
Erythrokeratodermia Variabilis	Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous phot...	ORPHA:317
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Erythema	OMIM:617524
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Erythroderma, Palmoplantar ke...	ORPHA:312
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Cole Disease	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:615522
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl...	ORPHA:90158
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	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
Jessner Lymphocytic Infiltration Of The Skin	Cutaneous photosensitivity, Erythema, Pruritus	ORPHA:33314
Dermatitis, Atopic	Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos...	OMIM:603165
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Pustule, Dehydration, Recurrent pneumonia, Edema, Recurrent bronchiolitis	OMIM:616069
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Edema ...	ORPHA:281127
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections	ORPHA:79503
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis	OMIM:101900
Cutaneous Mastocytoma	Telangiectasia of the skin, Flushing, Dermatographic urticaria, Telangiectasia macularis eruptiva...	ORPHA:79455
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Mal De Meleda	Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis	OMIM:248300
Reticular Dysgenesis	Failure to thrive, Skin rash, Dehydration, Sepsis, Skin ulcer, Weight loss, Recurrent respiratory...	ORPHA:33355
Mastocytosis, Cutaneous	Telangiectasia macularis eruptiva perstans, Urticaria, Erythema, Edema	OMIM:154800
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans	ORPHA:158681
Cutaneous Collagenous Vasculopathy	Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Skin rash, Bruising susceptibility,...	ORPHA:280779
Chronic Hiccup	Dehydration, Weight loss, Abnormal eating behavior	ORPHA:396
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Vulvovaginal Gingival Syndrome	Erythema, Parakeratosis, Pruritus	ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis	OMIM:615821
Chilblain Lupus	Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Cutis marm...	ORPHA:90280
Familial Cold Autoinflammatory Syndrome 3	Onychomycosis, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Pruritus, Recurren...	OMIM:614468
Ichthyosis, Congenital, Autosomal Recessive 10	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera...	OMIM:615024
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis, Ichthyosis, Edema, Palmoplantar keratoderma	ORPHA:455
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis	ORPHA:89838
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Pruritus, Skin fragility with non-...	ORPHA:79399
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Congenital ichthyosiform erythroderma, Rec...	ORPHA:457
Sjögren-Larsson Syndrome	Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:816
Familial Cold Urticaria	Polydipsia, Urticaria, Dehydration, Erythema, Pruritus	ORPHA:47045
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus	OMIM:131850
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Quinquaud Folliculitis Decalvans	Erythema, Pustule, Recurrent skin infections	ORPHA:346
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Cutaneous Small Vessel Vasculitis	Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Purpura	ORPHA:889
Erosive Pustular Dermatosis Of The Scalp	Erythema, Pustule	ORPHA:222
Bullous Impetigo	Recurrent bacterial skin infections, Erythema, Pustule, Sepsis	ORPHA:36237
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Acral Peeling Skin Syndrome	Eczema, Erythema, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem...	ORPHA:79147
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Vibratory Urticaria	Facial erythema, Urticaria, Flushing	OMIM:125630
Bullous Pemphigoid	Urticaria, Eczema, Erythema, Recurrent infections, Weight loss, Psoriasiform dermatitis	ORPHA:703
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections...	ORPHA:495
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Death in infancy	OMIM:219095
Protoporphyria, Erythropoietic, 1	Eczema, Erythema, Hypertriglyceridemia, Edema, Pruritus	OMIM:177000
Primary Erythromelalgia	Erythema, Pruritus, Recurrent respiratory infections	ORPHA:90026
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Erythema, Chronic mucocutaneous ca...	OMIM:147060
Netherton Syndrome	Urticaria, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Eczema, Dehydration, Acan...	ORPHA:634
Maculopapular Cutaneous Mastocytosis	Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Darier's sign, Pru...	ORPHA:79457
Bazex Syndrome	Acanthosis nigricans, Hyperkeratosis, Scaling skin, Pruritus, Edema, Palmoplantar keratoderma, Pa...	ORPHA:166113
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin	OMIM:614457
Dermatofibrosarcoma Protuberans	Skin ulcer, Erythema, Thickened skin	ORPHA:31112
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 3	Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan...	OMIM:606545
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis, Recurrent lower respiratory tract infections	OMIM:136630
Keratolytic Winter Erythema	Erythema, Pustule	ORPHA:50943
Netherton Syndrome	Failure to thrive, Urticaria, Congenital nonbullous ichthyosiform erythroderma, Hypernatremic deh...	OMIM:256500
Autosomal Erythropoietic Protoporphyria	Eczema, Erythema, Cutaneous photosensitivity, Edema, Pruritus	ORPHA:79278
Pemphigus Foliaceus	Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr...	ORPHA:79481
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Crusting erythem...	ORPHA:158673
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Keratoderma Hereditarium Mutilans With Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hy...	ORPHA:79395
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Angioma Serpiginosum	Vascular skin abnormality, Erythema	ORPHA:95429
Chronic Mucocutaneous Candidiasis	Skin rash, Recurrent urinary tract infections, Erythema, Hyperkeratosis, Recurrent infections, Pr...	ORPHA:1334
Dermatitis Herpetiformis	Urticaria, Eczema, Erythema, Pruritus, Edema, Skin vesicle	ORPHA:1656
Diabetes Mellitus, Transient Neonatal, 1	Dehydration, Severe failure to thrive	OMIM:601410
Ichthyosis, Congenital, Autosomal Recessive 6	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin, Hyperkeratosis, Scali...	OMIM:612281
Familial Benign Chronic Pemphigus	Skin vesicle, Acantholysis, Hyperkeratosis, Erythema	ORPHA:2841
Prolidase Deficiency	Erythema, Dry skin, Hyperkeratosis, Cutaneous photosensitivity, Crusting erythematous dermatitis,...	ORPHA:742
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, Angioedema, Laryngeal edema	ORPHA:100057
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma	OMIM:308800
Lymphatic Malformation 12	Recurrent upper and lower respiratory tract infections, Nonimmune hydrops fetalis, Death in adole...	OMIM:620014
Skin Fragility-Woolly Hair Syndrome	Failure to thrive, Palmoplantar erythema, Palmoplantar scaling skin, Fragile skin, Palmoplantar h...	OMIM:607655
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Hyperkeratosis, Scaling skin, Pruritus, Parakeratosis	ORPHA:90368
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Follicular hyperkeratosis, Polyhydramnios, Pruritus, Erythroderma, Gene...	OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmoplantar erythema	OMIM:104100
Psoriasis 2	Hyperkeratosis, Parakeratosis, Scaling skin, Psoriasiform dermatitis	OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus	OMIM:618531
Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Dry skin	ORPHA:461
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration, Death in infancy	OMIM:251850
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma	OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 2	Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Palmoplantar keratode...	OMIM:242100
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Erythema, Pruritus	OMIM:254400
Sydenham Chorea	Recurrent streptococcus pneumoniae infections, Erythema	ORPHA:306731
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Psoriasis 14, Pustular	Erythema, Parakeratosis, Pustule, Psoriasiform dermatitis	OMIM:614204
Necrobiosis Lipoidica	Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Skin ulcer	ORPHA:542592
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis, Dysphagia	OMIM:612379
Erythema Of Acral Regions	Erythema	OMIM:227000
Epidermolytic Palmoplantar Keratoderma	Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma...	ORPHA:2199
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Keratolytic Winter Erythema	Erythema	OMIM:148370
Meige Disease	Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent...	ORPHA:90186
Autosomal Agammaglobulinemia	Failure to thrive, Skin rash, Recurrent skin infections, Dehydration, Sepsis, Meningitis, Recurre...	ORPHA:33110
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Combined Oxidative Phosphorylation Deficiency 47	Dysphagia, Failure to thrive, Dehydration	OMIM:618958
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Annular Erythema	Erythema	OMIM:106500
Ichthyosis, Congenital, Autosomal Recessive 5	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White scaling skin, Erythroderm...	OMIM:604777
Central Diabetes Insipidus	Dehydration, Failure to thrive, Polydipsia, Weight loss	ORPHA:178029
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ...	OMIM:602540
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Transient Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Small for gestational age	ORPHA:99886
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Moynahan Syndrome	Cachexia, Hyperkeratosis	ORPHA:2574
Rare Cutaneous Lupus Erythematosus	Discoid lupus rash, Urticaria, Deep dermal perivascular inflammatory infiltrate, Vascular skin ab...	ORPHA:535
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Pustule, Recurrent tonsillitis, Dehydrati...	ORPHA:171876
Peeling Skin Syndrome 4	Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma	OMIM:607936
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Erythema	OMIM:194400
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Pustule, Skin rash, Cutis marmorata, Erythema, Pustular rash, Recurrent infect...	OMIM:615934
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Chromomycosis	Predominantly lower limb lymphedema, Vascular skin abnormality, Recurrent bacterial infections, H...	ORPHA:182
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Porokeratosis	Cutaneous photosensitivity, Hyperkeratosis, Pruritus	ORPHA:79358
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, De...	OMIM:610768
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Failure to thrive, Pustule, Perianal erythema, Erythroderma	OMIM:614328
Pityriasis Rubra Pilaris	Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat...	ORPHA:2897
Lymphatic Malformation 4	Hyperkeratosis, Lymphedema	OMIM:615907
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex...	OMIM:601952
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia, Hyperkeratosis	OMIM:616029
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Darier Disease	Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Pruritus, Skin vesic...	ORPHA:218
Bathing Suit Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Scalin...	ORPHA:100976
Congenital Lethal Erythroderma	Failure to thrive, Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in...	ORPHA:1954
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Pruritus	ORPHA:89843
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Erythema, Pruritus	ORPHA:79099
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Lipoid Proteinosis	Pustule, Hyperkeratosis, Acne, Dysphagia, Recurrent respiratory infections, Thickened skin	ORPHA:530
Olmsted Syndrome 2	Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera...	OMIM:619208
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa	ORPHA:33111
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk...	ORPHA:284426
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Lack of faci...	ORPHA:90156
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Lichen Planopilaris	Skin ulcer, Hyperkeratosis, Pruritus	ORPHA:525
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Dehydration, Death in childhood, Recurrent pneumonia	OMIM:214150
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Failure to thrive, Dehydration, Recurrent respiratory infections, Hyperaldosteronism	OMIM:264350
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Ectodermal dysplasia, Congenital bullous ichthyosiform erythroderma, Fo...	OMIM:613576
Familial Renal Glucosuria	Dehydration, Recurrent urinary tract infections	ORPHA:69076
Ramon Syndrome	Telangiectasia of the skin, Hyperkeratosis, Failure to thrive	ORPHA:3019
Pemphigus Vulgaris	Urticaria, Acantholysis, Recurrent infections, Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Facial erythema, Palmoplantar keratoderma, Folliculitis	OMIM:612843
Dowling-Degos Disease	Acne inversa, Generalized abnormality of skin, Hyperkeratosis, Pruritus, Hyperkeratotic papule, S...	ORPHA:79145
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Recurrent otitis media	OMIM:618625
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Erythema, Angioedema, Ecchymosis, Edema	ORPHA:449285
Noonan Syndrome 8	Failure to thrive, Palmoplantar cutis laxa, Eczema, Large for gestational age, Polyhydramnios, Hy...	OMIM:615355
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration, Increased circulating 18-hydroxycortisone level, Increased circul...	OMIM:610600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei...	OMIM:259100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:300918
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis	OMIM:618546
Irida Syndrome	Pallor, Ichthyosis, Hyperkeratosis	ORPHA:209981
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Lymphedema	ORPHA:79279
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Pruritus	OMIM:618084
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Small for gestational age, Dehydration, Ichthyosis, Death in infancy, Oligohyd...	OMIM:208085
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized ichthyosis	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 9	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H...	OMIM:615023
Odontoonychodermal Dysplasia	Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Palmoplantar h...	OMIM:257980
Secondary Short Bowel Syndrome	Failure to thrive, Steatorrhea, Dehydration, Sepsis, Polyphagia, Weight loss	ORPHA:95427
Adult-Onset Still Disease	Joint swelling, Skin rash, Erythema, Meningitis, Recurrent pharyngitis, Pruritus	ORPHA:829
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Immunodeficiency 23	Failure to thrive, Vasculitis in the skin, Eczema, Erythema, Severe varicella zoster infection, R...	OMIM:615816
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis	OMIM:604117
Complex Regional Pain Syndrome	Edema of the upper limbs, Pedal edema, Erythema, Dry skin	ORPHA:83452
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Palmoplantar keratoderma, Erythema, Thickened skin	ORPHA:659
Polyarteritis Nodosa	Skin ulcer, Cutis marmorata, Weight loss, Erythema	ORPHA:767
Glutamine Deficiency, Congenital	Erythema, Neonatal death, Recurrent respiratory infections	OMIM:610015
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ...	OMIM:615508
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration, Steatorrhea	OMIM:615237
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Palmar hyperkeratosis, Plantar hyperkeratosis, Cutaneous photosensitivity, Hyperkeratotic papule,...	ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr...	OMIM:242300
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Olmsted Syndrome 1	Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Pruritus	OMIM:614594
Immunoglobulin A Vasculitis	Urticaria, Vascular skin abnormality, Pustule, Skin rash, Bruising susceptibility, Erythema, Angi...	ORPHA:761
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Weight loss, Edema	ORPHA:103910
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration, Failure to thrive, Death in childhood, Death in adolescence	OMIM:560000
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:494
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Dry skin, Recurrent respiratory infections, Follicular hyperkeratosis	ORPHA:486815
Drug Reaction With Eosinophilia And Systemic Symptoms	Pustule, Skin rash, Erythema, Angioedema, Infectious encephalitis, Erythroderma, Weight loss	ORPHA:139402
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Juvenile Dermatomyositis	Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Palpebral edema, Erythema, Dry sk...	ORPHA:93672
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis, Pedal edema, Lymphedema	ORPHA:79452
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of ...	OMIM:148700
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticoster...	ORPHA:556030
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Xerostomia, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis	OMIM:618527
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Palmoplantar keratoderma, Hyperkeratosis, Scaling skin	OMIM:616295
Poikiloderma With Neutropenia	Recurrent bronchopulmonary infections, Skin rash, Plantar hyperkeratosis, Recurrent sinusitis, Hy...	OMIM:604173
Subcorneal Pustular Dermatosis	Erythema, Pustule, Pruritus	ORPHA:48377
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Recurrent skin infections, Sepsis, Generalized abnormality of skin, Erythema, ...	ORPHA:79396
Pityriasis Rubra Pilaris	Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Gaucher Disease, Perinatal Lethal	Congenital nonbullous ichthyosiform erythroderma, Petechiae, Decreased body weight, Nonimmune hyd...	OMIM:608013
Fixed Drug Eruption	Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis	ORPHA:293812
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Dry skin, Hyperkeratosis, Death in infancy, Recurrent infections, Peau d'orange	OMIM:614576
Xeroderma Pigmentosum, Complementation Group F	Decreased body weight, Cutaneous photosensitivity, Erythema	OMIM:278760
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Steatorrhea, Pallor, Small for gestational age, Death in childhood, Hydrops fe...	OMIM:557000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Dehydration	ORPHA:79312
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Urticaria, Failure to thrive, Erythema, Pruritus, Skin vesicle, Thick...	ORPHA:2135
Nodular Non-Suppurative Panniculitis	Weight loss, Erythema, Edema	ORPHA:33577
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae ...	OMIM:219090
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration, Hyperaldosteronism	OMIM:177735
Toxic Epidermal Necrolysis	Polydipsia, Sepsis, Erythema, Acantholysis, Dysphagia, Skin ulcer, Weight loss, Recurrent respira...	ORPHA:537
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum	OMIM:608068
Trichothiodystrophy 1, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Small for gestational age, Dry skin, Hyperkerat...	OMIM:601675
Porokeratosis 7, Multiple Types	Porokeratosis, Parakeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Urticaria, Pustule, Eczema, Xerostomia, Erythema, Palmoplantar hyperk...	ORPHA:2907
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis	ORPHA:79151
Beta-Ketothiolase Deficiency	Oral aversion, Pallor, Dehydration, Edema, Weight loss	ORPHA:134
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer, Weig...	ORPHA:37
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Poor wound healing, Hyperkeratosis, Penetrating foot ulcers	ORPHA:36386
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Acne inversa, Orthokeratosis, Hyperkeratosis	OMIM:617337
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Erythema, Angioedema, Laryngeal edema, Periorbital edema	OMIM:106100
Propionic Acidemia	Dehydration, Failure to thrive, Eczema	OMIM:606054
Cystinosis	Dehydration, Failure to thrive, Polydipsia	ORPHA:213
Tempi Syndrome	Facial erythema, Telangiectasia, Transudative pleural effusion, Ascites	ORPHA:284227
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Recurrent bacterial skin infections, Pustule, Generalized abnormality ...	ORPHA:294023
Glucose/Galactose Malabsorption	Hypertonic dehydration, Failure to thrive	OMIM:606824
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Leopard Syndrome 3	Epidermal hyperkeratosis, Hyperkeratosis, Dry skin	OMIM:613707
Renal Hypoplasia	Dehydration, Polydipsia, Recurrent urinary tract infections, Small for gestational age	ORPHA:93101
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Sunct Syndrome	Facial erythema, Flushing, Palpebral edema, Facial edema	ORPHA:57145
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma, Pruritus	OMIM:602400
Stevens-Johnson Syndrome	Sepsis, Erythema, Acantholysis, Dysphagia, Weight loss, Recurrent respiratory infections	ORPHA:36426
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema	OMIM:201100
Wolcott-Rallison Syndrome	Decreased body weight, Dehydration, Recurrent infections, Ascites, Jaundice	ORPHA:1667
Costello Syndrome	Lack of skin elasticity, Redundant skin, Acanthosis nigricans, Polyhydramnios, Hyperkeratosis, Fa...	ORPHA:3071
Chikungunya	Joint swelling, Petechiae, Facial edema, Skin rash, Maculopapular exanthema, Erythema, Cutaneous ...	ORPHA:324625
Fountain Syndrome	Facial edema, Cutis marmorata, Erythema	ORPHA:3219
Aicardi-Goutieres Syndrome 1	Petechiae, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Recurrent sinopulmonary infections, Erythema	OMIM:614878
Osteootohepatoenteric Syndrome	Failure to thrive, Dehydration, Pruritus, Prolonged neonatal jaundice, Weight loss	OMIM:619377
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor, Cerebral edema	ORPHA:439218
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Fragile skin, Skin vesicle, Pruritus	ORPHA:79410
Neonatal Lupus Erythematosus	Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Malar rash, Parak...	ORPHA:398124
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism	OMIM:214700
Familial Keratoacanthoma	Skin ulcer, Hyperkeratosis	ORPHA:493
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy	OMIM:609313
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Orthokeratosis, Congenital ichthyosiform erythroderma, Erythema, Hyperkeratosis, Stillbirth, Para...	OMIM:308050
Xeroderma Pigmentosum	Telangiectasia of the skin, Failure to thrive, Erythema, Conjunctival telangiectasia, Dry skin, H...	ORPHA:910
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss, Steatorrhea	ORPHA:92050
Popov-Chang syndrome	Failure to thrive, Hyperkeratosis, Dry skin, Recurrent otitis media	OMIM:618428
Isovaleric Acidemia	Dehydration	OMIM:243500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis	OMIM:607626
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Failure to thrive, Dehydration	OMIM:300200
Dermatomyositis	Telangiectasia of the skin, Erythema, Dry skin, Cutaneous photosensitivity, Pruritus, Periorbital...	ORPHA:221
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Hyperkeratosis	ORPHA:1883
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Erythema, Thickened skin	ORPHA:3194
Mednik Syndrome	Ichthyosis, Hyperkeratosis	ORPHA:171851
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Joint swelling, Pustule, Skin rash, Hyperkeratosis, Failure to thrive in infancy	OMIM:612852
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hyperkeratosis	OMIM:615279
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Recurrent skin infections, Sepsis, Fragile skin, Follicular hyperkeratosis, Sc...	ORPHA:158668
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Pilodental Dysplasia With Refractive Errors	Ectodermal dysplasia, Follicular hyperkeratosis	OMIM:262020
Incontinentia Pigmenti	Telangiectasia of the skin, Skin rash, Erythema, Hyperkeratosis, Infectious encephalitis, Skin ulcer	ORPHA:464
Juvenile Idiopathic Arthritis	Joint swelling, Skin rash, Generalized hyperkeratosis, Pericardial effusion, Psoriasiform dermati...	ORPHA:92
Hidrotic Ectodermal Dysplasia	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule, Cobblestone-like hy...	ORPHA:189
Microscopic Polyangiitis	Subcutaneous hemorrhage, Skin rash, Cutis marmorata, Erythema, Skin ulcer	ORPHA:727
Oral Erosive Lichen	Erythema, Dry skin	ORPHA:31142
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration	OMIM:251000
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Pal...	OMIM:137940
Hyperchlorhidrosis, Isolated	Failure to thrive, Hypernatremic dehydration	OMIM:143860
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutis marmorata, Hyperkeratosis, Recurrent pneumonia, Failure to thrive in infancy	OMIM:301220
Kanzaki Disease	Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co...	OMIM:609242
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Purpura, Erythema, Acrocyanosis	ORPHA:343
Mycetoma	Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections, Recurrent fungal infections...	ORPHA:2583
Autosomal Dominant Cerebellar Ataxia	Erythema, Hyperkeratosis, Pseudobulbar paralysis	ORPHA:99
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Erythema, Skin rash, Cerebral edema	OMIM:618321
Hypohidrotic Ectodermal Dysplasia	Failure to thrive, Eczema, Xerostomia, Dry skin, Hyperkeratosis	ORPHA:238468
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Cutaneous photosensitivity, Dysphagia, Palmo...	ORPHA:2908
Lysosomal Acid Lipase Deficiency	Failure to thrive, Steatorrhea, Cachexia, Dehydration, Hypertriglyceridemia, Pruritus, Hyperchole...	ORPHA:275761
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis...	ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis	ORPHA:281090
Rheumatic Fever	Pallor, Erythema, Recurrent pharyngitis	ORPHA:3099
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration, Polydipsia, Failure to thrive	OMIM:125800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Recurrent respiratory infections	ORPHA:1839
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration, Polydipsia, Failure to thrive	OMIM:304800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Dehydration, Oligohydramnios, Neonatal death	OMIM:263200
Microvillus Inclusion Disease	Dehydration, Pruritus	ORPHA:2290
Incontinentia Pigmenti	Pallor, Maculopapular exanthema, Hyperkeratosis, Erythema	OMIM:308300
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Ectodermal dysplasia, Parakeratosis, Follicular hyperkeratosis	OMIM:615225
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Hyperkeratosis, Recurrent respiratory infections	ORPHA:1806
Vipoma	Increased circulating cortisol level, Dehydration, Erythema, Subcutaneous lipoma, Weight loss, As...	ORPHA:97282
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration, Recurrent pneumonia, Recurrent infections	OMIM:616271
Shigellosis	Urticaria, Dehydration, Sepsis, Purpura, Failure to thrive in infancy	ORPHA:810
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Alternating Hemiplegia Of Childhood	Failure to thrive, Flushing, Pallor, Dehydration, Dysphagia, Oral-pharyngeal dysphagia	ORPHA:2131
Werner Syndrome	Slender build, Telangiectasia of the skin, Subcutaneous calcification, Miscarriage, Prematurely a...	ORPHA:902
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis	OMIM:617388
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Sclerodactyly, Poor wound healing, Dry skin, Facial erythema, Scaling skin, Palmoplantar keratoderma	ORPHA:1010
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Dehydration, Edema, Weight loss, Jaundice	ORPHA:20
Rothmund-Thomson Syndrome Type 2	Facial edema, Small for gestational age, Plantar hyperkeratosis, Erythema, Facial erythema, Porok...	ORPHA:221016
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Recurrent infections, Severe failure to thrive	OMIM:246200
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Follicular hyperkeratosis, Scaling skin, Erythroderma, Oligohydramnios, Ectodermal dysp...	OMIM:308205
Riddle Syndrome	Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Weight loss, Scaling skin, Recurrent ...	ORPHA:420741
Kikuchi-Fujimoto Disease	Pustule, Skin rash, Vasculitis in the skin, Palpebral edema, Erythema, Meningitis, Cutaneous phot...	ORPHA:50918
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Kid Syndrome	Recurrent candida infections, Failure to thrive, Recurrent bacterial skin infections, Progeroid f...	ORPHA:477
Lig4 Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Erythema	ORPHA:99812
Sialidosis Type 1	Vascular skin abnormality, Hyperkeratosis	ORPHA:812
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Chronic Graft Versus Host Disease	Morphea, Poor wound healing, Xerostomia, Erythema, Skin vesicle, Recurrent infections, Pleural ef...	ORPHA:99921
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Cholera	Palmoplantar cutis laxa, Dehydration, Miscarriage	ORPHA:173
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Glucagonoma	Skin rash, Steatorrhea, Increased circulating cortisol level, Pruritus, Subcutaneous lipoma, Necr...	ORPHA:97280
Pachyonychia Congenita 1	Palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:167200
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration	OMIM:251100
Congenital Non-Bullous Ichthyosiform Erythroderma	Failure to thrive, Ichthyosis, Pruritus, Erythroderma, Palmoplantar keratoderma	ORPHA:79394
Bone Marrow Failure Syndrome 3	Failure to thrive, Eczema, Hyperkeratosis, Recurrent infections	OMIM:617052
Rothmund-Thomson Syndrome Type 1	Facial edema, Small for gestational age, Plantar hyperkeratosis, Facial erythema, Porokeratosis, ...	ORPHA:221008
Pachyonychia Congenita	Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are...	ORPHA:2309
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Progeroid facial appearance, Acanthosis nigricans, Recurrent upper respiratory...	OMIM:256040
Ullrich Congenital Muscular Dystrophy 1	Slender build, Failure to thrive, Recurrent lower respiratory tract infections, Follicular hyperk...	OMIM:254090
Oligomeganephronia	Dehydration, Polydipsia, Small for gestational age	ORPHA:2260
Chime Syndrome	Skin ulcer, Ichthyosis, Hyperkeratosis, Erythema	ORPHA:3474
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Bruising susceptibility, Skin rash, Erythema, Erysipelas, Recurrent pharyngitis, Periorbital edema	ORPHA:32960
Fucosidosis	Failure to thrive, Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis	ORPHA:349
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Failure to thrive, Urticaria, Eczema, Recurrent bacterial infections, Erythema, Hyperkeratosis, I...	ORPHA:2273
Monilethrix	Follicular hyperkeratosis	ORPHA:573
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Warburg-Cinotti Syndrome	Joint swelling, Poor wound healing, Erythema, Follicular hyperkeratosis	OMIM:618175
Familial Mediterranean Fever	Skin rash, Erythema, Erysipelas, Meningitis, Pedal edema, Ascites	ORPHA:342
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Reactive Arthritis	Joint swelling, Pustule, Recurrent urinary tract infections, Hyperkeratosis, Weight loss	ORPHA:29207
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:90791
Cardiofaciocutaneous Syndrome	Excessive wrinkled skin, Redundant skin, Dry skin, Hyperkeratosis, Lymphedema, Ichthyosis, Palmop...	ORPHA:1340
Pearson Syndrome	Steatorrhea, Corneal stromal edema, Small for gestational age, Dehydration, Hydrops fetalis, Seve...	ORPHA:699
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis	OMIM:601812
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Darier-White Disease	Acantholysis, Acrokeratosis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Small for gestational age, Recurrent upp...	OMIM:210900
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Pachyonychia Congenita 3	Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm...	OMIM:615726
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Localized Scleroderma	Erythema, Thickened skin	ORPHA:90289
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Hyperkeratosis, Ichthyosis	OMIM:148210
Behcet Syndrome	Erythema, Erythema nodosum	OMIM:109650
Nephrogenic Diabetes Insipidus	Polyhydramnios, Polydipsia, Failure to thrive, Hypernatremic dehydration	ORPHA:223
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Recurrent skin infections, Pyoderma, Dehydration, Sepsis, Recurrent urinary tr...	ORPHA:79404
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Fragile skin, Acantholysis, Hyperk...	OMIM:601214
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Dehydration, Hydrops fetalis, Jaundice	ORPHA:79282
Infantile Nephropathic Cystinosis	Dehydration, Failure to thrive, Polydipsia	ORPHA:411629
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Sclerodactyly, Hypertriglyceridemia, Hypercholesterolemia, Palmoplantar keratoderma, Orthokeratot...	OMIM:610644
Microsporidiosis	Cachexia, Dehydration, Sepsis, Brain abscess, Bronchiolitis, Infectious encephalitis, Weight loss	ORPHA:2552
Oculocerebrorenal Syndrome Of Lowe	Joint swelling, Failure to thrive, Dehydration, Death in infancy, Hypercholesterolemia, Skin ulce...	ORPHA:534
Bartter Syndrome Type 4	Failure to thrive, Severe failure to thrive, Small for gestational age, Dehydration, Polyhydramni...	ORPHA:89938
Blau Syndrome	Joint swelling, Skin rash, Xerostomia, Erythema, Dry skin, Ichthyosis, Skin ulcer, Erythema nodosum	ORPHA:90340
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Bartter Syndrome, Type 3	Dehydration, Hyperaldosteronism	OMIM:607364
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin, Ectodermal dysplasia	OMIM:601701
Neuroleptic Malignant Syndrome	Dysphagia, Dehydration, Sepsis	ORPHA:94093
Hyperoxaluria, Primary, Type I	Cutis marmorata, Dehydration, Acrocyanosis	OMIM:259900
Ramon Syndrome	Decreased body weight, Telangiectasia, Hyperkeratosis, Angiokeratoma	OMIM:266270
Cystic Fibrosis	Failure to thrive, Recurrent bronchopulmonary infections, Steatorrhea, Dehydration, Recurrent pne...	OMIM:219700
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Failure to thrive, Eczema, Large for gestational age, Polyhydramnios, Hyperkeratosis, Ichthyosis	OMIM:607721
Marburg Hemorrhagic Fever	Petechiae, Skin rash, Bruising susceptibility, Maculopapular exanthema, Dehydration, Severe infec...	ORPHA:99826
Dend Syndrome	Dehydration	ORPHA:79134
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency, Pleural effusion	OMIM:616564
Melas	Failure to thrive, Erythema	ORPHA:550
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Hyperkeratosis	ORPHA:1005
Distal Renal Tubular Acidosis	Dehydration, Failure to thrive, Polydipsia	ORPHA:18
Cardiofaciocutaneous Syndrome 1	Failure to thrive, Atopic dermatitis, Polyhydramnios, Hyperkeratosis, Ichthyosis	OMIM:115150
Bartter Syndrome, Type 2, Antenatal	Failure to thrive, Polydipsia, Small for gestational age, Dehydration, Polyhydramnios, Hyperaldos...	OMIM:241200
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:168558
Noonan Syndrome 2	Polyhydramnios, Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency	OMIM:605275
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Failure to thrive, Dehydration	ORPHA:289548
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Pyruvate Carboxylase Deficiency	Failure to thrive, Dehydration	ORPHA:3008
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Joint swelling, Urticaria, Failure to thrive, Cutis laxa, At...	OMIM:619503
Juvenile Nephropathic Cystinosis	Dehydration, Failure to thrive, Polydipsia	ORPHA:411634
Zollinger-Ellison Syndrome	Erythema, Weight loss, Jaundice, Increased circulating cortisol level	ORPHA:913
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Focal Dermal Hypoplasia	Telangiectasia of the skin, Erythema	ORPHA:2092
Cystinosis, Nephropathic	Polydipsia, Dehydration, Dysphagia, Weight loss, Failure to thrive in infancy, Oral-pharyngeal dy...	OMIM:219800
Lymphatic Filariasis	Predominantly lower limb lymphedema, Opportunistic infection, Hyperkeratosis, Lymphedema, Opportu...	ORPHA:2035
Hermansky-Pudlak Syndrome	Weight loss, Hyperkeratosis, Bruising susceptibility, Thickened skin	ORPHA:79430
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Miscarriage, Decreased circulating cortisol level, Dehydration, Acne, Weight loss	ORPHA:90794
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Small for gestational age, Dehydration, Polyhydramnios, Hyperaldosteronism	OMIM:601678
Kawasaki Disease	Skin rash, Palmoplantar erythema, Meningitis, Recurrent pharyngitis, Edema, Jaundice	ORPHA:2331
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Dry skin, Hyperkeratosis, Prolonged neonatal jaundice, Oligohydramnios, Stillb...	OMIM:210710
Colchicine Poisoning	Dehydration	ORPHA:31824
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Bruising susceptibility, Cutis laxa, Follicular hyperkeratosis	OMIM:614557
Scorpion Envenomation	Pulmonary edema, Purpura, Erythema, Edema	ORPHA:466677
Fabry Disease	Telangiectasia of the skin, Hyperlipidemia, Mucosal telangiectasiae, Angiokeratoma, Conjunctival ...	ORPHA:324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Punctate Palmoplantar Keratoderma Type 1	Orthokeratosis, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Palmoplantar keratoderma, Hyp...	ORPHA:79501
Proximal Renal Tubular Acidosis	Dehydration, Failure to thrive, Polydipsia	ORPHA:47159
Urachal Cyst	Severe infection, Erythema	ORPHA:488
Alacrima, Achalasia, And Mental Retardation Syndrome	Dysphagia, Hyperkeratosis	OMIM:615510
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Bruising susceptibility, Excessive wrinkled skin, Palmoplantar cutis laxa, Poor wound healing, Fo...	OMIM:225400
Multiple Endocrine Neoplasia Type 4	Subcutaneous lipoma, Erythema, Increased circulating cortisol level	ORPHA:276152
Leprechaunism	Reduced subcutaneous adipose tissue, Failure to thrive, Decreased body weight, Acanthosis nigrica...	ORPHA:508
Atypical Werner Syndrome	Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearance, Progeroid fa...	ORPHA:79474
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Small for gestational age, Eczema, Recurrent urinary tract infections, Hyperkerato...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Small for gestational age, Eczema, Recurrent urinary tract infections, Hyperkerato...	ORPHA:363958
Multiple Endocrine Neoplasia Type 1	Weight loss, Dehydration, Primary hypercortisolism, Increased circulating cortisol level	ORPHA:652
Eec Syndrome	Xerostomia, Hyperkeratosis, Dry skin	ORPHA:1896
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Erythema	ORPHA:2556
Restrictive Dermopathy 1	Prominent superficial blood vessels, Neonatal death, Polyhydramnios, Scaling skin, Epidermal hype...	OMIM:275210
De Sanctis-Cacchione Syndrome	Telangiectasia, Cutaneous photosensitivity, Parakeratosis	OMIM:278800
Relapsing Polychondritis	Purpura, Erythema	ORPHA:728
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin, Recurrent respiratory infections	OMIM:614748
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Eczema, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Seb...	ORPHA:83617
Leprosy	Hyperkeratosis, Penetrating foot ulcers, Acral ulceration	ORPHA:548
6Q Terminal Deletion Syndrome	Failure to thrive, Hyperkeratosis, Obesity	ORPHA:75857
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Hyperkeratosis, Recurrent respiratory infections, Ectodermal dysplasia	OMIM:129900
Cowden Syndrome	Palmoplantar keratoderma, Failure to thrive, Mucosal telangiectasiae, Generalized hyperkeratosis	ORPHA:201
Kyphoscoliotic Ehlers-Danlos Syndrome	Fragile skin, Poor wound healing, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:536545
Restrictive Dermopathy	Polyhydramnios, Dermal translucency, Generalized hyperkeratosis, Scaling skin, Epidermal hyperker...	ORPHA:1662
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Hyperkeratosis, Ectodermal dysplasia	OMIM:604292
Proteus Syndrome	Vascular skin abnormality, Cachexia, Lymphedema, Generalized hyperkeratosis, Recurrent infections...	ORPHA:744
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epidermal thickening, Orthokeratotic hyperkeratosis, Thickened skin	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
Cers3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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