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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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 Similarity of
phenotypes
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
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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