Not currently registered for phenotyping at IMPC

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

Gene Summary

arachidonate 12-lipoxygenase, 12R type
e-LOX2,  Aloxe2,  12R-LOX

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Alox12b 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 Alox12b by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Lamellar Ichthyosis
Pruritus, Dry skin, Hyperkeratosis, Erythroderma, Dehydration, Lack of skin elasticity ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:242100
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Palmoplantar keratoderma, Pruritus ORPHA:79394
Self-Improving Collodion Baby

The table below shows human diseases predicted to be associated to Alox12b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Palmoplantar scaling skin, Nonepidermolytic palmop... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:617525
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus ORPHA:2337
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Edema of the dorsum of feet, Edema of the dorsum of hands, L... ORPHA:281127
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Dry skin OMIM:617920
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Eczematoid dermatitis OMIM:146700
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Vibratory Urticaria
Flushing, Urticaria, Facial erythema OMIM:125630
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Urticaria, Edema OMIM:154800
Psoriasis 2
Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Scaling skin, Psoriasiform dermatitis OMIM:602723
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Scaling skin, Erythroderma OMIM:113800
Mal De Meleda
Epidermal acanthosis, Palmoplantar keratoderma, Superficial dermal perivascular inflammatory infi... ORPHA:87503
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Acquired Ichthyosis
Palmoplantar keratoderma, Pruritus, Recurrent skin infections, Erythema, Hyperkeratosis, Dry skin ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Palmoplantar hyperkeratosis, Erythema OMIM:607602
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Erythema, Early cutaneous photosensitivity OMIM:219095
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Pruritus, Vascular skin abnormality, Erythema, Prominent supe... ORPHA:280779
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythema, Acantholysis, Thin skin, Edema ORPHA:455
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Scaling skin, Dry skin, Cutis laxa OMIM:105250
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Reduced subcutaneous adipose tissue, Scaling skin, Inflammatory abnormality o... ORPHA:90158
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Uv-Sensitive Syndrome 3
Telangiectasia, Cutaneous photosensitivity, Dry skin OMIM:614640
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis, Fragile skin OMIM:615028
Ulerythema Ophryogenesis
Acne, Facial erythema, Miscarriage, Contact dermatitis, Follicular hyperkeratosis, Dry skin, Hype... ORPHA:3406
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Palmoplantar hyperkeratosis, Dry skin, Facial erythema OMIM:212360
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Pruritus, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Scaling skin ORPHA:90368
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Parakeratosis, Striae distensae, Pruritus on foot, Facial erythema... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Er... OMIM:612281
Classic Mycosis Fungoides
Pruritus, Erythema, Hyperkeratosis, Eczema, Skin ulcer, Edema, Dry skin, Skin rash ORPHA:2584
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Peeling Skin Syndrome 4
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkeratosis, Scaling skin OMIM:607936
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Quinquaud Folliculitis Decalvans
Erythema, Recurrent skin infections, Pustule ORPHA:346
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Pruritus, Angioedema, Maculopapular exanthema, Erythe... ORPHA:79455
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Facial erythema, Eczema, Atopic dermatitis, Pallor, Dry skin OMIM:603165
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Bazex Syndrome
Palmoplantar keratoderma, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin, Edema ORPHA:166113
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Peeling Skin Syndrome 1
Erythema, Scaling skin, Pruritus OMIM:270300
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Abnormal epidermal morphology, Maculopapular exanthema, Inflammatory ... ORPHA:79147
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Keratolytic Winter Erythema
Erythema OMIM:148370
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Uv-Sensitive Syndrome 1
Telangiectasia, Cutaneous photosensitivity, Dry skin OMIM:600630
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality o... ORPHA:90159
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Erythema Of Acral Regions
Erythema OMIM:227000
Congenital Lethal Erythroderma
Death in infancy, Congenital exfoliative erythroderma, Urticaria, Dry skin ORPHA:1954
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Hyperkeratosis ORPHA:1659
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura, Skin rash ORPHA:889
Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia, Palmoplantar hyperkeratosis, Scaling skin, Fragile skin OMIM:604536
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Generalized hyperkeratosis, Cutis laxa, Scaling skin, Dry skin ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Verrucous Hemangioma
Epidermal acanthosis, Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Epidermal acanthosis, Erythema, Orthokeratosis OMIM:613943
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pharyngeal edema, Angioedema, Erythema, Palpebral edema, Tongue edema, Laryngeal edema, Facial edema ORPHA:100057
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Erythema, Pruritus, Parakeratosis ORPHA:83453
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Scaling skin OMIM:616295
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Hypotrichosis 6
Follicular hyperkeratosis, Erythema, Pruritus OMIM:607903
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Centrifugal Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Scaling skin, Inf... ORPHA:90156
Aicardi-Goutieres Syndrome 5
Chilblains, Scaling skin, Dry skin OMIM:612952
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ectodermal dysplasia, Dry skin OMIM:125640
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:384
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule ORPHA:36237
Ataxia-Photosensitivity-Short Stature Syndrome
Cutaneous photosensitivity, Urticaria, Dry skin ORPHA:1184
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Cole Disease
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Autosomal Erythropoietic Protoporphyria
Pruritus, Cutaneous photosensitivity, Erythema, Eczema, Edema ORPHA:79278
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Dermatitis Herpetiformis
Pruritus, Erythema, Urticaria, Eczema, Edema, Skin vesicle ORPHA:1656
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Maculopapular Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Erythema, Darier's sign, Flushing, Generalized abnormality of... ORPHA:79457
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus, Edema OMIM:177000
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Erythema, Scaling skin, Dry skin OMIM:614457
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule ORPHA:79148
Pemphigus Foliaceus
Pruritus, Erythema, Acantholysis, Erythroderma, Scaling skin, Psoriasiform dermatitis, Pustule, C... ORPHA:79481
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Psoriasiform le... ORPHA:284426
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyper... ORPHA:79395
Familial Cold Urticaria
Dehydration, Erythema, Urticaria, Pruritus ORPHA:47045
Erythrokeratodermia Variabilis
Erythema, Cutaneous photosensitivity, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry ski... ORPHA:317
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Epidermal acanthosis, Edema, Pustule OMIM:616069
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis OMIM:146750
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Orthokeratotic hyperkeratosis OMIM:615598
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Acrokeratosis Verruciformis
Hyperkeratosis, Epidermal acanthosis OMIM:101900
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Mycosis Fungoides
Eczema, Erythema, Psoriasiform dermatitis, Pruritus OMIM:254400
Complex Regional Pain Syndrome
Pedal edema, Edema of the upper limbs, Erythema, Dry skin ORPHA:83452
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Pruritus ORPHA:735
White Sponge Nevus 2
Epidermal acanthosis, Edema, Hyperparakeratosis OMIM:615785
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Lamellar Ichthyosis
Pruritus, Dry skin, Hyperkeratosis, Erythroderma, Dehydration, Lack of skin elasticity ORPHA:313
Immunodeficiency 55
Eczema, Recurrent skin infections, Dry skin OMIM:617827
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Pruritus, Angioedema, Dermatographic urticaria, Erythema OMIM:614468
Diffuse Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Urticaria, Darier's sign, Erythroderma, Flushing, Scaling ski... ORPHA:79456
Bathing Suit Ichthyosis
Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin ORPHA:100976
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar hyperkeratosis, Erythema, Cutaneous photosensitivity, Telangiectasia, Thin skin, Cru... ORPHA:158673
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Urticaria, Dry skin ORPHA:816
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Edema, Dry skin OMIM:612947
Scaling skin, Dry skin OMIM:257960
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Oral Erosive Lichen
Erythema, Dry skin ORPHA:31142
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Erythema, Pruritus ORPHA:79099
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Bullous Pemphigoid
Eczema, Erythema, Urticaria, Psoriasiform dermatitis ORPHA:703
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Pruritus, Parakeratosis, Erythema, Hyperkeratosis OMIM:615821
Necrobiosis Lipoidica
Erythema, Telangiectasia of the skin, Inflammatory abnormality of the skin, Fragile skin, Skin ulcer ORPHA:542592
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Facial erythema, Follicular hyperkeratosis, Dry skin, Folliculitis OMIM:308800
Spinocerebellar Ataxia Type 34
Urticaria, Dry skin ORPHA:1955
Reticular Dysgenesis
Dehydration, Skin ulcer, Skin rash ORPHA:33355
Riddle Syndrome
Dry skin OMIM:611943
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Sydenham Chorea
Erythema ORPHA:306731
Psoriasis 14, Pustular
Epidermal acanthosis, Parakeratosis, Erythema, Psoriasiform dermatitis, Pustule OMIM:614204
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Xeroderma Pigmentosum Variant
Telangiectasia, Cutaneous photosensitivity, Dry skin ORPHA:90342
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent cutaneous fungal infections, Diffuse palmoplantar hyperkeratosis, Palmar hyperkeratosis... ORPHA:495
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Superficial dermal perivascular inflammatory infiltrate, V... ORPHA:535
Sézary Syndrome
Palmoplantar keratoderma, Pruritus, Erythroderma, Edema, Dry skin ORPHA:3162
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Chronic Hiccup
Dehydration ORPHA:396
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Skin rash OMIM:147060
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Pruritus, Dermatographic urticaria, Erythroderma, Polyhydramnios, Follicula... OMIM:608649
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:606545
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Orthokeratosis, Parakeratosis, Jaundice, Dry skin OMIM:607626
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Eczema, Dry skin OMIM:261600
Angioedema, Hereditary, 1
Pharyngeal edema, Angioedema, Erythema, Periorbital edema, Intestinal edema, Laryngeal edema OMIM:106100
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ectodermal dysplasia, Dry skin OMIM:129490
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Netherton Syndrome
Urticaria, Eczema, Erythroderma, Dehydration, Dry skin, Skin rash ORPHA:634
Pili Torti-Onychodysplasia Syndrome
Eczema, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin ORPHA:2890
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema OMIM:609313
Chilblain Lupus
Cutis marmorata, Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory a... ORPHA:90280
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Perianal erythema, Pustule, Perioral erythema OMIM:614328
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin OMIM:301021
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Ectodermal dysplasia, Scaling skin, Follicular hyperkeratosis, Oligohydramnios, Dry... OMIM:308205
Bone Marrow Failure Syndrome 4
Eczema, Dry skin OMIM:618116
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... ORPHA:2199
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Ectodermal dysplasia, Dry skin ORPHA:1660
Subcorneal Pustular Dermatosis
Erythema, Pustule, Pruritus ORPHA:48377
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Erythema, Scaling skin, Psoriasiform dermatitis, Pustule, Ch... ORPHA:294023
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin OMIM:618527
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Pyoderma gangrenosum, Erythema, Cystic acne OMIM:608068
Prolidase Deficiency
Palmoplantar keratoderma, Pruritus, Erythema, Cutaneous photosensitivity, Hyperkeratosis, Thin sk... ORPHA:742
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Hyperchlorhidrosis, Isolated
Dehydration, Hypernatremic dehydration OMIM:143860
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Facial erythema, Ascites ORPHA:284227
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Familial Melanoma
Dry skin ORPHA:618
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis ORPHA:293812
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Palmoplantar hyperkeratosis, Dry skin OMIM:206600
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema OMIM:242100
Adiposis Dolorosa
Bruising susceptibility, Recurrent skin infections, Telangiectasia of the skin, Xerostomia, Dry skin ORPHA:36397
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Immunodeficiency 58
Cold urticaria, Cutaneous abscess, Psoriasiform lesion, Molluscum contagiosum, Cutaneous photosen... OMIM:618131
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Prematurely aged appearance ORPHA:2617
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Olmsted Syndrome, X-Linked
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Dry skin OMIM:255900
Polyarteritis Nodosa
Skin ulcer, Erythema, Cutis marmorata ORPHA:767
Harlequin Ichthyosis
Dehydration, Erythroderma, Hyperkeratosis ORPHA:457
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Skin ulcer ORPHA:312
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Kanzaki Disease
Telangiectasia of the oral mucosa, Hyperkeratosis, Lymphedema, Angiokeratoma corporis diffusum, L... OMIM:609242
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Dry skin OMIM:613707
Odontoonychodermal Dysplasia
Epidermal acanthosis, Orthokeratosis, Erythema, Plantar hyperkeratosis, Dry skin OMIM:257980
Olmsted Syndrome 2
Epidermal acanthosis, Palmoplantar keratoderma, Pruritus, Parakeratosis, Palmoplantar hyperkerato... OMIM:619208
Snakebite Envenomation
Erythema, Ecchymosis, Angioedema, Edema ORPHA:449285
Eczema, Scaling skin ORPHA:79323
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin OMIM:617388
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Folliculitis, Facial erythema OMIM:612843
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Sunct Syndrome
Flushing, Facial edema, Palpebral edema, Facial erythema ORPHA:57145
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin ORPHA:95715
Immunoglobulin A Vasculitis
Bruising susceptibility, Angioedema, Vascular skin abnormality, Erythema, Urticaria, Pustule, Ski... ORPHA:761
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Familial Renal Glucosuria
Dehydration ORPHA:69076
Chronic Actinic Dermatitis
Epidermal acanthosis, Pruritus, Cutaneous photosensitivity, Eczema, Erythroderma, Late onset atop... ORPHA:330064
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Facial erythema, Poor wound healing, Scaling skin, Dry skin ORPHA:1010
Nodular Non-Suppurative Panniculitis
Erythema, Edema ORPHA:33577
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Uremic Pruritus
Pruritus, Recurrent skin infections, Inflammatory abnormality of the skin, Generalized abnormalit... ORPHA:94059
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma OMIM:615022
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Hyperkeratosis, Skin ulcer, Skin rash ORPHA:1334
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Erythema, Flushing, Eczematoid dermatitis, Seborrheic dermatitis, Re... OMIM:259100
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Ecchymosis, Striae distensae, Facial erythema, Poor wound healing, Thin ... OMIM:219090
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Erythroderma OMIM:604777
Omenn Syndrome
Erythroderma, Edema, Dry skin, Pruritus ORPHA:39041
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Death in infancy, Dry skin, Peau d'orange OMIM:614576
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scaling skin, Dry skin OMIM:618419
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis OMIM:615024
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Leopard Syndrome 2
Dry skin OMIM:611554
Basan Syndrome
Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma OMIM:129200
Jung Syndrome
Dry skin ORPHA:2321
Agel Amyloidosis
Bruising susceptibility, Pruritus, Blepharochalasis, Dermatological manifestations of systemic di... ORPHA:85448
Adult-Onset Still Disease
Joint swelling, Erythema, Pruritus, Skin rash ORPHA:829
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Hypohidrotic ectodermal dysplasia, Dry skin OMIM:614940
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Erythroderma, Scaling skin, Psoriasiform dermatitis, Chronic oral candidiasis OMIM:606367
Netherton Syndrome
Angioedema, Parakeratosis, Urticaria, Erythroderma, Hypernatremic dehydration OMIM:256500
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Dry skin ORPHA:300536
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Erythema, Palmoplantar keratoderma ORPHA:659
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto ... OMIM:148700
Trichothiodystrophy 6, Nonphotosensitive
Dry skin OMIM:616943
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Fragile skin, Polyhydramnios OMIM:612138
Ichthyosis With Confetti
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:609165
Kid Syndrome
Recurrent cutaneous fungal infections, Epidermal acanthosis, Recurrent bacterial skin infections,... ORPHA:477
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Erythema, Pustular rash, Malar rash, Pustule, Telangiectasia, Skin rash OMIM:615934
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Subungual hyperkeratosis, Parakeratosis OMIM:173200
Porphyria Cutanea Tarda
Cutaneous abscess, Cutaneous photosensitivity, Poor wound healing, Scaling skin, Recurrent bacter... ORPHA:101330
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Peripheral edema, Pleural effusion, P... ORPHA:90186
Enteric Anendocrinosis
Dehydration ORPHA:83620
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Palmoplantar keratoderma, Recurrent skin infections, Pruritus, Scaling skin, Follicu... ORPHA:158668
Noonan Syndrome 5
Polyhydramnios, Dry skin OMIM:611553
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Acrocyanosis, Erythema, Purpura ORPHA:343
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:616029
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Dry skin, Perioral erythema OMIM:201100
Juvenile Dermatomyositis
Pruritus, Mucosal telangiectasiae, Erythema, Cutaneous photosensitivity, Palpebral edema, Telangi... ORPHA:93672
Acrodermatitis Enteropathica
Erythema, Pustule, Generalized abnormality of skin, Skin ulcer, Dry skin ORPHA:37
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Death in infancy, Dry skin OMIM:601675
Fountain Syndrome
Erythema, Cutis marmorata, Facial edema ORPHA:3219
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Epidermal acanthosis, Skin vesicle OMIM:613102
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Bachmann-Bupp Syndrome
Polyhydramnios, Dry skin OMIM:619075
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Drug Reaction With Eosinophilia And Systemic Symptoms
Angioedema, Erythema, Erythroderma, Pustule, Skin rash ORPHA:139402
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Dry skin ORPHA:226313
Bacterial Toxic-Shock Syndrome
Recurrent skin infections, Ecchymosis, Scaling skin, Edema, Skin rash ORPHA:36234
Xfe Progeroid Syndrome
Prematurely aged appearance, Death in adolescence, Cutaneous photosensitivity, Ascites, Dry skin OMIM:610965
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin OMIM:268020
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Scaling skin ORPHA:35173
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Cutaneous photosensitivity, Urticaria, Dry skin, Skin rash ORPHA:220295
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Distal Trisomy 6P
Dry skin ORPHA:1745
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Death in infancy, Jaundice OMIM:208085
Tangier Disease
Dry skin OMIM:205400
Central Diabetes Insipidus
Dehydration ORPHA:178029
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar hyperkeratosis, Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkerat... ORPHA:69087
Rat-Bite Fever
Erythema nodosum, Maculopapular exanthema, Morbilliform rash, Scaling skin, Pustule, Skin rash ORPHA:31205
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Redundant neck skin OMIM:619003
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin OMIM:262190
Noonan Syndrome 13
Bruising susceptibility, Lymphedema, Dry skin OMIM:619087
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal dysplasia, Periorbital wrinkles, Xerostomia, Dry skin OMIM:614941
Dry skin ORPHA:79155
Squalene Synthase Deficiency
Cutaneous photosensitivity, Dry skin OMIM:618156
Microscopic Polyangiitis
Cutis marmorata, Erythema, Skin ulcer, Subcutaneous hemorrhage, Skin rash ORPHA:727
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Eczema, Xerostomia, Dry skin ORPHA:238468
Graft Versus Host Disease
Jaundice, Maculopapular exanthema, Scaling skin, Inflammatory abnormality of the skin ORPHA:39812
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ectodermal dysplasia, Dry skin OMIM:600906
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Isovaleric Acidemia
Dehydration OMIM:243500
Tooth Agenesis, Selective, 4
Dry skin OMIM:150400
Popov-Chang syndrome
Hyperkeratosis, Dry skin OMIM:618428
Hereditary Acrokeratotic Poikiloderma
Palmoplantar hyperkeratosis, Erythema, Urticaria, Telangiectasia of the skin, Eczema, Thin skin, ... ORPHA:2907
Petechiae, Pruritus, Erythema nodosum, Maculopapular exanthema, Erythema, Cutaneous photosensitiv... ORPHA:324625
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Psoriasiform lesion ORPHA:169154
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule ORPHA:38
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Autosomal Agammaglobulinemia
Dehydration, Recurrent skin infections, Skin rash ORPHA:33110
Porokeratosis 3, Multiple Types
Parakeratosis OMIM:175900
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Iga Pemphigus
Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Acantholysis, Pustule, Genera... ORPHA:555905
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular h... OMIM:615225
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Epidermal acanthosis, Erythroderma, Orthokeratosis OMIM:615023
Hennekam-Beemer Syndrome
Pruritus, Erythema, Urticaria, Telangiectasia of the skin, Skin vesicle ORPHA:2135
Lig4 Syndrome
Telangiectasia of the skin, Erythema, Cutaneous photosensitivity ORPHA:99812
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Erysipelas, Pleural effusion, Lymphedema, Scaling skin, Skin ulcer, Edema, Dry skin ORPHA:2526
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Dry skin ORPHA:99832
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hyperkeratosis, Erythema, Stillbirth, Parakeratosis OMIM:308050
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Thin skin, Petechiae, Striae distensae OMIM:225310
Noonan Syndrome 14
Bruising susceptibility, Polyhydramnios, Dry skin OMIM:619745
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Irida Syndrome
Pallor, Hyperkeratosis ORPHA:209981
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Erythema, Dehydration, Death in childhood, Pallor OMIM:557000
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Riddle Syndrome
Telangiectasia, Erythema, Scaling skin, Conjunctival telangiectasia ORPHA:420741
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Aicardi-Goutieres Syndrome 9
Chilblains, Ascites, Edema, Dry skin, Pericardial effusion OMIM:619487
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Hyperkeratosis, Cutaneous photosensitivity, Pruritus ORPHA:79358
Behcet Syndrome
Erythema, Erythema nodosum OMIM:109650
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Pemphigus Vulgaris
Urticaria, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Immunodeficiency 23
Vasculitis in the skin, Molluscum contagiosum, Erythema, Eczema, Chronic mucocutaneous candidiasis OMIM:615816
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Refsum Disease
Dry skin ORPHA:773
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Pruritus, Erythema, Cutaneous photosensitivity, Telangiectasia of the skin, Periorbital edema, Ac... ORPHA:221
Ifap Syndrome 2
Perioral erythema OMIM:619016
Dry skin OMIM:190360
Microvillus Inclusion Disease
Dehydration, Pruritus ORPHA:2290
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Atopic dermatitis, Pustule ORPHA:171876
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Helix Syndrome
Xerostomia, Dry skin OMIM:617671
Adult Syndrome
Eczema, Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin OMIM:103285
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythroderma, Parakeratosis OMIM:242300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Dry skin ORPHA:1812
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Erythema ORPHA:3194
Dehydration, Palmoplantar cutis laxa, Miscarriage ORPHA:173
Propionic Acidemia
Dehydration, Eczema OMIM:606054
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Edema, Dehydration, Jaundice ORPHA:20
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Dry skin ORPHA:280071
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Dry skin, Hyperkeratosis, Lymphedema, Excessive wrinkled skin, Redundan... ORPHA:1340
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Psoriasis-Related Juvenile Idiopathic Arthritis
Pruritus, Psoriasiform lesion, Malar rash, Psoriasiform dermatitis, Skin rash ORPHA:85436
19Q13.11 Microdeletion Syndrome
Dry skin ORPHA:217346
Chromosome 19Q13.11 Deletion Syndrome, Distal
Dry skin, Reduced subcutaneous adipose tissue OMIM:613026
Xeroderma Pigmentosum
Erythema, Cutaneous photosensitivity, Conjunctival telangiectasia, Telangiectasia of the skin, Hy... ORPHA:910
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Subcutaneous lipoma, Erythema, Intermittent jaundice, Ascites, Dehydration ORPHA:97282
Kohlschutter-Tonz Syndrome-Like
Death in adolescence, Oligohydramnios, Dry skin OMIM:619229
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Erythema nodosum OMIM:614700
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Angiokeratoma, Dry skin OMIM:230000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Recurrent skin infections, Erythema, Generalized abnormality of skin, F... ORPHA:79396
Dehydration, Urticaria, Purpura ORPHA:810
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Parkes Weber Syndrome
Skin ulcer, Scaling skin, Prominent superficial blood vessels ORPHA:90307
Dehydration ORPHA:213
Warburg-Cinotti Syndrome
Erythema, Poor wound healing, Thin skin, Follicular hyperkeratosis, Joint swelling OMIM:618175
Cranioectodermal Dysplasia 3
Ectodermal dysplasia, Dry skin, Cutis laxa OMIM:614099
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Dry skin, Facial edema ORPHA:90674
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Polyhydramnios OMIM:214700
Incontinentia Pigmenti
Erythema, Hyperkeratosis, Telangiectasia of the skin, Skin ulcer, Skin rash ORPHA:464
Wolcott-Rallison Syndrome
Dehydration, Jaundice, Ascites ORPHA:1667
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Bruising susceptibility, Erythema, Periorbital edema, Skin rash ORPHA:32960
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Dry skin ORPHA:457059
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Familial Mediterranean Fever
Erysipelas, Erythema, Pedal edema, Ascites, Skin rash ORPHA:342
Osteootohepatoenteric Syndrome
Dehydration, Prolonged neonatal jaundice, Pruritus OMIM:619377
Incontinentia Pigmenti
Pallor, Hyperkeratosis, Erythema OMIM:308300
Septo-Optic Dysplasia Spectrum
Dry skin ORPHA:3157
Alternating Hemiplegia Of Childhood
Pallor, Flushing, Dehydration ORPHA:2131
Adult Syndrome
Skin ulcer, Dry skin ORPHA:978
Barber-Say Syndrome
Redundant skin, Dry skin OMIM:209885
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Dry skin OMIM:613990
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Restrictive Dermopathy
Dermal translucency, Generalized hyperkeratosis, Epidermal hyperkeratosis, Polyhydramnios, Scalin... ORPHA:1662
Koolen-De Vries Syndrome
Dry skin ORPHA:96169
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Ablepharon-Macrostomia Syndrome
Dry skin OMIM:200110
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Recurrent skin infections, Erythema, Cutaneous photosensitivity, Hyperk... ORPHA:2908
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Pruritus, Erythema, Cutaneous photosensitivity, Palpebral edema, Pleural ... ORPHA:50918
Autosomal Dominant Hypocalcemia
Eczema, Dry skin ORPHA:428
Prematurely aged appearance, Congenital exfoliative erythroderma, Cutaneous photosensitivity, Ecz... ORPHA:33364
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Dry skin ORPHA:2637
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Erythema, Facial edema, Facial erythema ORPHA:221016
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperkeratosis, Prolonged neonatal jaundice, Oligohydramnios, Dry skin, Stillbirth OMIM:210710
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Dry skin ORPHA:508542
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Eczema, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Dry skin OMIM:305100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Epidermal acanthosis, Hyperkeratosis, Pustule, Joint swelling, Skin rash OMIM:612852
21Q22.11Q22.12 Microdeletion Syndrome
Dry skin ORPHA:261323
Blau Syndrome
Erythema nodosum, Erythema, Skin ulcer, Joint swelling, Xerostomia, Dry skin, Skin rash ORPHA:90340
Koolen-De Vries Syndrome
Eczema, Dry skin OMIM:610443
Eec Syndrome
Hyperkeratosis, Xerostomia, Dry skin ORPHA:1896
X-Linked Intellectual Disability, Nascimento Type
Oligohydramnios, Recurrent cutaneous abscess formation, Dry skin ORPHA:163956
Localized Scleroderma
Erythema ORPHA:90289
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Abnormal epidermal morphology, Pa... ORPHA:79501
Necrolytic migratory erythema, Subcutaneous lipoma, Pruritus, Intermittent jaundice, Ascites, Ski... ORPHA:97280
Dubowitz Syndrome
Eczema, Cutaneous photosensitivity, Cutis marmorata, Dry skin ORPHA:235
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin OMIM:619306
Chime Syndrome
Hyperkeratosis, Skin ulcer, Erythema ORPHA:3474
Renal Hypoplasia
Dehydration ORPHA:93101
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Urticaria, Cutis laxa, Facial erythema, Reduced subcutaneous adipose tissue, Atopic der... OMIM:619503
Nestor-Guillermo Progeria Syndrome
Progeroid facial appearance, Dry skin, Prominent superficial veins OMIM:614008
Lipodystrophy, Familial Partial, Type 7
Cutis marmorata, Decreased adipose tissue around neck, Progeroid facial appearance, Pleural effus... OMIM:606721
Rabson-Mendenhall Syndrome
Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue ORPHA:769
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Focal Dermal Hypoplasia
Telangiectasia of the skin, Thin skin, Erythema ORPHA:2092
Dend Syndrome
Dehydration ORPHA:79134
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Late-Onset Isolated Acth Deficiency
Dry skin ORPHA:199299
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Telangiectasia, Facial edema, Facial erythema ORPHA:221008
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Hyperkeratosis, Lymphedema, Angiok... ORPHA:79280
Cockayne Syndrome B
Prematurely aged appearance, Cutaneous photosensitivity, Progeroid facial appearance, Reduced sub... OMIM:133540
Skin Fragility-Woolly Hair Syndrome
Fragile skin, Palmoplantar hyperkeratosis, Acantholysis OMIM:607655
Hallermann-Streiff Syndrome
Telangiectasia, Dry skin OMIM:234100
Scorpion Envenomation
Edema, Erythema, Purpura, Pulmonary edema ORPHA:466677
Chand Syndrome
Dry skin ORPHA:1401
Urachal Cyst
Erythema ORPHA:488
Primary Sjögren Syndrome
Cutis marmorata, Erythema nodosum, Skin ulcer, Xerostomia, Purpura, Dry skin ORPHA:289390
Menkes Disease
Prolonged neonatal jaundice, Spontaneous hematomas, Dry skin ORPHA:565
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Erythema ORPHA:550
Aicardi-Goutières Syndrome
Cutis marmorata, Chilblains, Prolonged neonatal jaundice, Acrocyanosis, Dry skin ORPHA:51
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Hydrops fetalis, Jaundice ORPHA:79282
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Marburg Hemorrhagic Fever
Bruising susceptibility, Petechiae, Maculopapular exanthema, Jaundice, Dehydration, Skin rash ORPHA:99826
Dehydration ORPHA:2260
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Chronic Graft Versus Host Disease
Erythema, Pleural effusion, Poor wound healing, Ascites, Skin ulcer, Xerostomia, Skin vesicle ORPHA:99921
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Cockayne Syndrome A
Prematurely aged appearance, Cutaneous photosensitivity, Progeroid facial appearance, Reduced sub... OMIM:216400
Tangier Disease
Dry skin ORPHA:31150
Limb-Mammary Syndrome
Psoriasiform dermatitis, Dry skin ORPHA:69085
Lysosomal Acid Lipase Deficiency
Dehydration, Pruritus, Jaundice, Ascites ORPHA:275761
Colchicine Poisoning
Dehydration ORPHA:31824
Oculocerebrorenal Syndrome Of Lowe
Dehydration, Joint swelling, Skin ulcer, Death in infancy ORPHA:534
Acute Adrenal Insufficiency
Dry skin ORPHA:95409
Erythema nodosum, Chapped lip, Skin ulcer, Edema, Dry skin, Skin rash ORPHA:707
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Redundant skin, Dry skin ORPHA:920
Kawasaki Disease
Palmoplantar erythema, Skin rash, Jaundice, Edema ORPHA:2331
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Erythema nodosum, Death in adolescence, Erythema, Progeroid facial app... OMIM:256040
Zollinger-Ellison Syndrome
Erythema, Jaundice ORPHA:913
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis, Pruritus OMIM:124200
Hajdu-Cheney Syndrome
Skin ulcer, Dry skin ORPHA:955
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin OMIM:218700
Syndromic Diarrhea
Dry skin ORPHA:84064
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Noonan Syndrome 1
Bruising susceptibility, Chylothorax, Lymphedema, Dry skin OMIM:163950
Pearson Syndrome
Dehydration, Hydrops fetalis, Cutaneous photosensitivity, Corneal stromal edema ORPHA:699
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Erythema ORPHA:276152
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Dehydration, Fragile skin, Edema, Pyoderma ORPHA:79404
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Alzahrani-Kuwahara Syndrome
Eczema, Dry skin OMIM:619268
Infantile Nephropathic Cystinosis