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Gene: Cers3 MGI:2681008

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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.

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, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Congenital Ichthyosiform Erythroderma
Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive ORPHA:79394

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... ORPHA:737
Ulerythema Ophryogenesis
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Onychomycosis OMIM:617574
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Edema, Excessive skin wrinkling on dorsum of hands and finger... ORPHA:498359
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Lamellar Ichthyosis
Recurrent respiratory infections, Pruritus, Erythroderma, Dehydration, Sepsis, Lack of skin elast... ORPHA:313
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Weight loss, Hyperkeratosis, C... ORPHA:317
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... ORPHA:312
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... OMIM:603165
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Harlequin Ichthyosis
Recurrent respiratory infections, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosi... ORPHA:457
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... OMIM:607602
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Chronic Hiccup
Weight loss, Dehydration, Abnormal eating behavior ORPHA:396
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Sepsis, Skin ulcer, Dehydration, Weight loss, Failur... ORPHA:33355
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... ORPHA:79455
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis OMIM:248300
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Hydroa Vacciniforme
Hydroa vacciniforme, Superficial dermal perivascular inflammatory infiltrate, Eczema, Telangiecta... ORPHA:330058
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Anonychia With Flexural Pigmentation
Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis ORPHA:69125
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Col... OMIM:614468
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... ORPHA:100057
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Pa... ORPHA:79399
Sjögren-Larsson Syndrome
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:816
Familial Cold Urticaria
Pruritus, Erythema, Dehydration, Urticaria, Polydipsia ORPHA:47045
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema, Sepsis ORPHA:36237
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar... ORPHA:495
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Recurrent infections, Urticaria, Weight loss ORPHA:703
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... OMIM:614457
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Failure to thrive, Recurrent bronchiol... OMIM:616069
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... ORPHA:166113
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Erythema ORPHA:90026
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Erythema, Chronic mucocutaneo... OMIM:147060
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Dehydration, Recurrent infections, Urticaria... ORPHA:634
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema OMIM:177000
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Sydenham Chorea
Erythema, Inappropriate behavior, Compulsive behaviors, Recurrent streptococcus pneumoniae infect... ORPHA:306731
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Parakeratosis, Recurrent skin infect... OMIM:256500
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:461
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin OMIM:146590
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou... ORPHA:158673
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Pruritus, Erythe... ORPHA:1334
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Sepsis, Facial erythema, Vasculitis in the skin, Recurrent otitis... OMIM:620321
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Prolidase Deficiency
Recurrent respiratory infections, Recurrent cystitis, Pruritus, Crusting erythematous dermatitis,... ORPHA:742
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat... OMIM:608649
Central Diabetes Insipidus
Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... OMIM:242100
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Aggressive behavior OMIM:247100
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Erythema Of Acral Regions
Erythema OMIM:227000
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Skin vesicle ORPHA:254478
Keratolytic Winter Erythema
Erythema OMIM:148370
Psoriasis 14, Pustular
Pustule, Parakeratosis, Psoriasiform dermatitis, Erythema OMIM:614204
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Recurrent skin infections, Skin rash, Sepsis, Dehydration, Recu... ORPHA:33110
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
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
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration, Dysphagia OMIM:618958
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-... OMIM:602540
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Rec... ORPHA:171876
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Dehydration ORPHA:99886
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... ORPHA:100976
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Failure to thrive, Skin rash, Cutis marmorata, Pustule, Erythem... OMIM:615934
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... ORPHA:182
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Inflammatory abnormality of the skin, Failure to thrive, Increased circulating ... OMIM:610768
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior OMIM:618339
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive OMIM:614328
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Hyperaldosteronism, Dehydration OMIM:264350
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Death in infancy, Dry skin, Urticaria, Ichthyosis, Failure t... ORPHA:1954
Lipoid Proteinosis
Recurrent respiratory infections, Acne, Pustule, Thickened skin, Hyperkeratosis, Dysphagia ORPHA:530
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Lichen Planopilaris
Pruritus, Hyperkeratosis, Skin ulcer ORPHA:525
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Recurrent infections, Urticaria, Weight loss ORPHA:704
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Snakebite Envenomation
Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis ORPHA:449285
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... OMIM:613576
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Generalized abnormality of skin, A... ORPHA:79145
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... ORPHA:163525
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Recurrent pneumonia, Dehydration, Death in childhood, Failure to thrive OMIM:214150
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis OMIM:618625
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin ORPHA:3019
Noonan Syndrome 8
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Pleur... OMIM:615355
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Facial erythema OMIM:612843
Immunoglobulin A Vasculitis
Skin rash, Edema, Anorexia, Pustule, Angioedema, Erythema, Vascular skin abnormality, Skin ulcer,... ORPHA:761
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating corticosterone level, Increased circulating 18-hydroxyco... OMIM:610600
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin OMIM:224750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration, Anorexia ORPHA:79312
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... OMIM:300918
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... OMIM:259100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema ORPHA:79279
Immunodeficiency 23
Recurrent respiratory infections, Eczema, Recurrent staphylococcal infections, Severe varicella z... OMIM:615816
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Erythema, Pedal edema ORPHA:83452
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Secondary Short Bowel Syndrome
Sepsis, Dehydration, Weight loss, Steatorrhea, Failure to thrive, Polyphagia ORPHA:95427
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Small for gestational age, Jaundice, Dehydration, Ichthyosis, Failure to thrive... OMIM:208085
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Adult-Onset Still Disease
Skin rash, Pruritus, Recurrent pharyngitis, Erythema, Joint swelling, Meningitis ORPHA:829
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Generalized ab... ORPHA:37
Glutamine Deficiency, Congenital
Neonatal death, Recurrent respiratory infections, Erythema OMIM:610015
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer, Weight loss ORPHA:767
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Recurrent respiratory infections, Dry skin, Follicular hyperkeratosis ORPHA:486815
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring blistering, ... ORPHA:79397
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Erythema, Hydrops fetalis, Dehydration, Recurrent infections... OMIM:557000
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma, Infectious encephalitis ORPHA:139402
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Sunct Syndrome
Restlessness, Palpebral edema, Facial edema, Facial erythema, Agitation, Flushing ORPHA:57145
Juvenile Dermatomyositis
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Weight lo... ORPHA:93672
Beta-Ketothiolase Deficiency
Anorexia, Edema, Dehydration, Weight loss, Agitation, Pallor, Oral aversion ORPHA:134
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Death in adolescence, Dehydration, Death in childhood OMIM:560000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Hypergranul... OMIM:615508
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Edema, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:604173
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, De... ORPHA:556030
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Edema, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Bruising susc... OMIM:219090
Gaucher Disease, Perinatal Lethal
Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Dysphagia, Hyperkeratosis, Cong... OMIM:608013
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Recurrent skin infections, Erythema, Sepsis, Recurrent infections, Palmoplanta... ORPHA:79396
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity, Decreased body weight OMIM:278760
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Dry skin, Recurrent infections, Hyperkeratosis, Peau d'orange, Failure to thrive OMIM:614576
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Acantholysis, Erythema, Sepsis, Skin ulcer, Weight loss, Dyspha... ORPHA:537
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Urticaria, Skin vesicle, Failure ... ORPHA:2135
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Dehydration OMIM:177735
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis ORPHA:2269
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura OMIM:225750
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Nodular Non-Suppurative Panniculitis
Erythema, Edema, Weight loss ORPHA:33577
Trichothiodystrophy 1, Photosensitive
Death in infancy, Small for gestational age, Telangiectasia, Recurrent infections, Hyperkeratosis... OMIM:601675
Propionic Acidemia
Failure to thrive, Eczema, Dehydration OMIM:606054
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Poor wound healing ORPHA:36386
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Dehydration ORPHA:213
Proteus Syndrome
Hyperkeratosis OMIM:176920
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Palmoplantar hyperkeratosis, S... ORPHA:2907
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration OMIM:212140
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin ORPHA:454831
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema OMIM:106100
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Stevens-Johnson Syndrome
Recurrent respiratory infections, Acantholysis, Erythema, Sepsis, Weight loss, Dysphagia ORPHA:36426
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:281090
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Aggressive behavior, Erythema, Death in childhood, Cerebral edema OMIM:618321
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Recurrent infections, Decreased body weight, Ascites ORPHA:1667
Renal Hypoplasia
Recurrent urinary tract infections, Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Dry skin, Recurrent candida infections, Perioral erythema, Failure to thrive OMIM:201100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Recurrent sinopulmonary infections, Erythema OMIM:614878
Costello Syndrome
Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat... ORPHA:3071
Enteric Anendocrinosis
Dehydration ORPHA:83620
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620126
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema ORPHA:284227
Rheumatic Fever
Recurrent pharyngitis, Erythema, Pallor, Anorexia ORPHA:3099
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration OMIM:620125
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Dysphagia OMIM:616029
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Erythema, Skin ulcer, Hyperkeratosis, Attention deficit hy... ORPHA:464
Fountain Syndrome
Facial edema, Erythema, Cutis marmorata ORPHA:3219
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive OMIM:619377
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Failure to thrive, Dehydration OMIM:300200
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma... ORPHA:398124
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Pallor, Dysph... ORPHA:2131
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Dehydration, Steatorrhea ORPHA:92050
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting erythemato... ORPHA:324625
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho... OMIM:308050
Xeroderma Pigmentosum
Conjunctival telangiectasia, Failure to thrive, Telangiectasia of the skin, Thickened skin, Eryth... ORPHA:910
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Isovaleric Acidemia
Dehydration OMIM:243500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperk... OMIM:137940
Shigellosis
Failure to thrive in infancy, Anorexia, Sepsis, Dehydration, Urticaria, Purpura ORPHA:810
Mednik Syndrome
Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death OMIM:609313
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive OMIM:615279
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus,... ORPHA:221
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Edema, Jaundice, Dehydration, Weight loss, Pallor ORPHA:20
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Hidrotic ectodermal dysplasia ORPHA:1883
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin OMIM:607626
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Recurrent pneumonia, Cutis marmorata, Failure to thrive in infancy OMIM:301220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis OMIM:612852
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Corneodermatoosseous Syndrome
Thickened skin, Erythema, Palmoplantar keratoderma ORPHA:3194
Mycetoma
Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis... ORPHA:2583
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Sepsis, Palmoplantar kerat... ORPHA:158668
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive ORPHA:238468
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E... OMIM:308205
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Polyhydramnios, Dehydration OMIM:214700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Vipoma
Anorexia, Erythema, Dehydration, Intermittent jaundice, Weight loss, Increased circulating cortis... ORPHA:97282
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hypertriglyceridemia, Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, ... ORPHA:275761
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... ORPHA:79280
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Cutaneo... ORPHA:2908
Kikuchi-Fujimoto Disease
Skin rash, Palpebral edema, Anorexia, Pruritus, Pustule, Erythema, Weight loss, Cutaneous photose... ORPHA:50918
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... OMIM:609242
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypertonic dehydration OMIM:304800
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Recurrent respiratory infections, Skin ulcer ORPHA:1806
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Recurrent respiratory infections ORPHA:1839
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Polyhydramnios, Dehydration OMIM:616271
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Werner Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Miscarriage, Lack of skin elasticity, Sk... ORPHA:902
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly ORPHA:1010
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Facial edema, Erythema, Facial ... ORPHA:221016
Riddle Syndrome
Conjunctival telangiectasia, Recurrent viral infections, Recurrent pneumonia, Erythema, Telangiec... ORPHA:420741
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Severe failure to thrive, Recurrent infections OMIM:246200
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Palmoplantar Carcinoma, Multiple Self-Healing
Ectodermal dysplasia, Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration ORPHA:69076
Chronic Graft Versus Host Disease
Poor wound healing, Anorexia, Thickened skin, Erythema, Xerostomia, Skin ulcer, Recurrent infecti... ORPHA:99921
Ifap Syndrome 2
Ichthyosis follicularis, Perioral erythema OMIM:619016
Glucagonoma
Skin rash, Anorexia, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Weight loss,... ORPHA:97280
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Facial edema, Telangiectasia, F... ORPHA:221008
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic papule, Fragile skin ORPHA:79410
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Sialidosis Type 1
Hyperkeratosis, Vascular skin abnormality ORPHA:812
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Lig4 Syndrome
Erythema, Cutaneous photosensitivity, Telangiectasia of the skin ORPHA:99812
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... ORPHA:2309
Cholera
Palmoplantar cutis laxa, Miscarriage, Dehydration ORPHA:173
Ullrich Congenital Muscular Dystrophy 1
Recurrent lower respiratory tract infections, Failure to thrive, Slender build, Follicular hyperk... OMIM:254090
Congenital Ichthyosiform Erythroderma
Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Failure to thrive ORPHA:79394
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis ORPHA:3474
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration OMIM:251110
Monilethrix
Follicular hyperkeratosis ORPHA:573
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Failure to thrive, Dehydration ORPHA:90791
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Periorbital edema, Recurrent pharyngitis, Erythema, Bruising susceptibility, Erysipelas ORPHA:32960
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Fucosidosis
Failure to thrive, Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality ORPHA:349
Oligomeganephronia
Polydipsia, Small for gestational age, Dehydration ORPHA:2260
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Eczema, Erythema, Recurrent infections, Urticaria, Hyperkeratos... ORPHA:2273
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Progeroid facial appearance, Erythema nodosum, Recurrent upper respiratory ... OMIM:256040
Bloom Syndrome
Small for gestational age, Recurrent upper respiratory tract infections, Malar rash, Facial eryth... OMIM:210900
Warburg-Cinotti Syndrome
Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis OMIM:618175
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Polydipsia, Failure to thrive ORPHA:223
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin... ORPHA:1340
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Skin ulcer, Dehydration, Joint swelling, Self... ORPHA:534
Familial Mediterranean Fever
Skin rash, Erythema, Erysipelas, Pedal edema, Ascites, Meningitis ORPHA:342
Pyruvate Carboxylase Deficiency
Failure to thrive, Anorexia, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurre... ORPHA:3008
Reactive Arthritis
Recurrent urinary tract infections, Pustule, Weight loss, Joint swelling, Hyperkeratosis ORPHA:29207
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Dehydration OMIM:251100
Microsporidiosis
Brain abscess, Anorexia, Cachexia, Sepsis, Dehydration, Weight loss, Bronchiolitis, Infectious en... ORPHA:2552
Pearson Syndrome
Small for gestational age, Severe infection, Hydrops fetalis, Dehydration, Steatorrhea, Corneal s... ORPHA:699
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Bone Marrow Failure Syndrome 3
Hyperactivity, Eczema, Recurrent infections, Hyperkeratosis, Failure to thrive OMIM:617052
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperactivity, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Attention defic... OMIM:607721
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... OMIM:601812
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis OMIM:148210
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Localized Scleroderma
Thickened skin, Erythema ORPHA:90289
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Recurrent skin infections, Edema, Sepsis, Dehydration, Pyoder... ORPHA:79404
Marburg Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Severe infection, Jaundice, De... ORPHA:99826
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem... OMIM:610644
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin ORPHA:90340
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Failure to thrive, Fetal ascites, Impulsivity, Erythema, Ato... OMIM:619503
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Dehydration ORPHA:411629
Neuroleptic Malignant Syndrome
Agitation, Sepsis, Dehydration, Dysphagia ORPHA:94093
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Failure to thrive, Hydrops fetalis, Dehydration ORPHA:79282
Cystic Fibrosis
Recurrent bronchopulmonary infections, Recurrent pneumonia, Dehydration, Steatorrhea, Failure to ... OMIM:219700
Dend Syndrome
Dehydration ORPHA:79134
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Tongue thrusting, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive OMIM:115150
Hermansky-Pudlak Syndrome
Anorexia, Thickened skin, Weight loss, Hyperkeratosis, Bruising susceptibility ORPHA:79430
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Severe failure to thr... ORPHA:89938
Ramon Syndrome
Hyperkeratosis, Decreased body weight, Angiokeratoma, Telangiectasia OMIM:266270
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anorexia, Lymphedema, Hyp... ORPHA:324
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Dehydration ORPHA:18
Kawasaki Disease
Skin rash, Edema, Recurrent pharyngitis, Jaundice, Palmoplantar erythema, Meningitis ORPHA:2331
Melas
Failure to thrive, Erythema ORPHA:550
Bartter Syndrome, Type 3
Hyperaldosteronism, Dehydration OMIM:607364
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Noonan Syndrome 10
Increased nuchal translucency, Hyperkeratosis, Pleural effusion, Palmoplantar cutis laxa OMIM:616564
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Polydipsia, Failure t... OMIM:241200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Failure to thrive, Dehydration ORPHA:168558
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency, Polyhydramnios OMIM:605275
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Failure to thrive, Dehydration ORPHA:289548
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Dehydration ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dehydration, Weight loss, Dysphagia, Pol... OMIM:219800
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Opportunistic bacterial infection, Hyperkeratosi... ORPHA:2035
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Weight loss ORPHA:99885
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin ORPHA:2092
Scorpion Envenomation
Restlessness, Pulmonary edema, Edema, Erythema, Purpura ORPHA:466677
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Failure to thrive OMIM:601678
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Acne, Miscarriage, Dehydration, Weight loss, Failure to thrive ORPHA:90794
Zollinger-Ellison Syndrome
Jaundice, Erythema, Increased circulating cortisol level, Weight loss ORPHA:913
Urachal Cyst
Severe infection, Erythema ORPHA:488
Colchicine Poisoning
Dehydration ORPHA:31824
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... ORPHA:363958
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... ORPHA:79501
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Dysphagia OMIM:615510
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bruising susceptibility, Follicular hyperkeratosis, Polyhydramnios, Cutis laxa OMIM:614557
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis OMIM:158310
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Dehydration ORPHA:47159
Multiple Endocrine Neoplasia Type 1
Anorexia, Dehydration, Weight loss, Increased circulating cortisol level, Primary hypercortisolism ORPHA:652
Leprechaunism
Reduced subcutaneous adipose tissue, Thickened skin, Hyperkeratosis, Hyperaldosteronism, Decrease... ORPHA:508
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appearance, Telangiectasia of... ORPHA:79474
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Recurrent pneumonia, Excessive wrinkled skin, Follicular hyperkeratosis, Palm... OMIM:225400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Erythema, Subcutaneous lipoma ORPHA:276152
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Eec Syndrome
Hyperkeratosis, Dry skin, Xerostomia ORPHA:1896
Restrictive Dermopathy 1
Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scalin... OMIM:275210
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis ORPHA:276280
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
De Sanctis-Cacchione Syndrome
Parakeratosis, Cutaneous photosensitivity, Telangiectasia OMIM:278800
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Erythema ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Failure to thrive, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged ne... OMIM:210710
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Truncal obesity, Palmoplantar erythema, Failure to thrive, Abnormal repe... OMIM:612474
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Recurrent respiratory infections, Erythema, Fragile skin OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat... ORPHA:73223
6Q Terminal Deletion Syndrome
Hyperkeratosis, Failure to thrive, Obesity ORPHA:75857
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Leprosy
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration ORPHA:548
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Ectodermal dysplasia, Xerostomia, Recurrent respiratory infections OMIM:129900
Cowden Syndrome
Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae ORPHA:201
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... ORPHA:1662
Baller-Gerold Syndrome
Erythema OMIM:218600
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Fragile skin, Follicular hyperkeratosis ORPHA:536545
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Ectodermal dysplasia, Xerostomia OMIM:604292
Proteus Syndrome
Cachexia, Lymphedema, Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular ski... ORPHA:744

Histopathology

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

There is no histopathology data for 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cers3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cers3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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