Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arachidonate 12-lipoxygenase, 12R type
Synonyms:
e-LOX2,  12R-LOX,  Aloxe2

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 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
phenotypes
Matching phenotypes Source
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis OMIM:242100
Congenital Ichthyosiform Erythroderma
Pruritus, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Self-Improving Collodion Baby
ORPHA:281122

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... ORPHA:3406
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin OMIM:146590
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Diffuse Palmoplantar Keratoderma, Bothnian Type
Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer ORPHA:2337
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Eczematoid dermatitis OMIM:146700
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Pruritus, Scaling skin OMIM:105250
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythrode... OMIM:620507
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria OMIM:154800
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus, Cutaneous photosensitivity OMIM:617920
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma, Scaling skin OMIM:113800
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri... ORPHA:87503
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Pruritus, Recurrent skin infections, Hyperkeratosis ORPHA:454
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan... ORPHA:280779
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma OMIM:613000
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity, Death in infancy OMIM:219095
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis, Edema, Thin skin ORPHA:455
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis, Pruritus ORPHA:79100
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin... ORPHA:90158
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Uv-Sensitive Syndrome 3
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:614640
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Fragile skin, Hyperkeratosis OMIM:615028
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin ORPHA:263534
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue ORPHA:90160
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ep... OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Skin vesicle, Palm... ORPHA:64745
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Pruritus, Hyperkeratosis ORPHA:90368
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:607936
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Facial erythema, Pruritus, Recurrent ... OMIM:603165
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angioedema, Telan... ORPHA:79455
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis, Edema ORPHA:2584
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super... ORPHA:330058
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Death in infancy, Urticaria ORPHA:1954
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Epidermal acanthosis, Fragile skin, Follicular hyperkeratosis, Scaling skin, Punctate p... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Keratolytic Winter Erythema
Erythema OMIM:148370
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Macul... ORPHA:79147
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis, Edema ORPHA:166113
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:607602
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
Uv-Sensitive Syndrome 1
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:600630
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Erythema Of Acral Regions
Erythema OMIM:227000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Skin rash, Recurrent skin infections, Purpura, Urticaria ORPHA:889
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis OMIM:613943
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis ORPHA:2269
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema ORPHA:100057
Vulvovaginal Gingival Syndrome
Erythema, Epidermal acanthosis, Pruritus, Parakeratosis ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis OMIM:617525
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider... OMIM:604777
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Dermoodontodysplasia
Dry skin, Ectodermal dysplasia OMIM:125640
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:384
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Lack of faci... ORPHA:90156
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin, Cutaneous photosensitivity, Urticaria ORPHA:1184
Bullous Impetigo
Pustule, Erythema, Recurrent bacterial skin infections ORPHA:36237
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis, Skin fragility with non-scarring blistering, Pruritus ORPHA:158681
Autosomal Erythropoietic Protoporphyria
Erythema, Eczematoid dermatitis, Pruritus, Cutaneous photosensitivity, Edema ORPHA:79278
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Death in childhood, Scaling skin, Hyperkeratosis OMIM:614457
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Eczematoid dermatitis, Edema OMIM:177000
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth... ORPHA:79481
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Pruritus, Flu... ORPHA:79457
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, P... ORPHA:79395
Familial Cold Urticaria
Erythema, Pruritus, Dehydration, Urticaria ORPHA:47045
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adulthood, Death in adolescen... OMIM:605676
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis, Cutaneous phot... ORPHA:317
Complex Regional Pain Syndrome
Erythema, Pedal edema, Dry skin, Edema of the upper limbs ORPHA:83452
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis OMIM:146750
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis ORPHA:461
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Exce... ORPHA:498359
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus OMIM:615696
Familial Cold Autoinflammatory Syndrome 3
Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Pruritus OMIM:614468
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Mycosis Fungoides
Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Pruritus OMIM:254400
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Porokeratosis Of Mibelli
Pruritus, Cutaneous photosensitivity, Hyperkeratosis ORPHA:735
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration ORPHA:313
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Telangiectasia, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Fragile ... ORPHA:158673
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis, Edema OMIM:615785
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Diffuse Cutaneous Mastocytosis
Dermatographic urticaria, Generalized abnormality of skin, Erythroderma, Scaling skin, Peau d'ora... ORPHA:79456
Sjögren-Larsson Syndrome
Erythema, Hyperkeratosis, Dry skin, Urticaria ORPHA:816
Bathing Suit Ichthyosis
Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis ORPHA:100976
Ichthyosis With Confetti
Palmoplantar hyperkeratosis, Pruritus, Erythroderma, Scaling skin OMIM:609165
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Skin vesicle, Pruritus, Edema, Urticaria ORPHA:1656
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Ectodermal dysplasia, Fragile skin, Scaling skin OMIM:604536
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin OMIM:218650
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Congenital Disorder Of Glycosylation, Type If
Dry skin, Death in infancy, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Peeling Skin Syndrome 1
Pruritus, Erythroderma, Scaling skin OMIM:270300
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis OMIM:308800
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Reticular Dysgenesis
Skin rash, Skin ulcer, Dehydration ORPHA:33355
Necrobiosis Lipoidica
Erythema, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia of the skin, Fragile skin ORPHA:542592
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Spinocerebellar Ataxia Type 34
Dry skin, Urticaria ORPHA:1955
Acute Generalized Exanthematous Pustulosis
Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic d... ORPHA:293173
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin, Pruritus, Palmoplantar keratoderma, Eczematoid dermatitis OMIM:618535
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Malar rash, Psoriasiform lesion, Hyperkeratosis, Vasculitis in the skin, Cuta... ORPHA:163525
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis, Polyhydramnios, Dehydration OMIM:616069
Riddle Syndrome
Dry skin OMIM:611943
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Pruritus, Urticaria ORPHA:703
Sydenham Chorea
Erythema ORPHA:306731
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Epidermal acanthosis OMIM:614204
Schopf-Schulz-Passarge Syndrome
Dry skin, Palmoplantar keratoderma, Ectodermal dysplasia, Hyperkeratosis OMIM:224750
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Transgrediens Et Progrediens Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Recurrent cutaneous fungal infections, Facial erythema, Palm... ORPHA:495
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Dry skin, Palmoplantar keratoderma, Scaling skin OMIM:618373
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Dry skin, Ectodermal dysplasia OMIM:600906
Xeroderma Pigmentosum Variant
Telangiectasia, Dry skin, Cutaneous photosensitivity ORPHA:90342
Aplasia Cutis Congenita
Erythema, Skin ulcer ORPHA:1114
Chronic Hiccup
Dehydration ORPHA:396
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Epidermal acan... OMIM:608649
Sézary Syndrome
Palmoplantar keratoderma, Dry skin, Erythroderma, Pruritus, Edema ORPHA:3162
Netherton Syndrome
Eczematoid dermatitis, Dry skin, Skin rash, Erythroderma, Dehydration, Urticaria ORPHA:634
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Scaling skin, Hyperkeratosis ORPHA:454831
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin, Ectodermal dysplasia OMIM:129490
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Bone Marrow Failure Syndrome 4
Dry skin, Eczematoid dermatitis OMIM:618116
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Cutis marmorata, Malar rash... ORPHA:90280
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
C1Q Deficiency 2
Discoid lupus rash, Malar rash, Chilblains, Facial erythema, Vasculitis in the skin OMIM:620321
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Pili Torti-Onychodysplasia Syndrome
Dry skin, Ectodermal dysplasia, Palmoplantar keratoderma, Eczematoid dermatitis ORPHA:2890
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Perioral erythema, Perianal erythema OMIM:614328
Phenylketonuria
Dry skin, Eczematoid dermatitis OMIM:261600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Dry skin, Parakeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:618527
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous dermatitis, Hyper... ORPHA:742
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess, D... OMIM:618282
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Epiderma... ORPHA:2199
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Dermoodontodysplasia
Dry skin, Ectodermal dysplasia ORPHA:1660
Fixed Drug Eruption
Crusting erythematous dermatitis, Erythema, Generalized abnormality of skin ORPHA:293812
Vohwinkel Syndrome, Variant Form
Parakeratosis, Orthokeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Cutis laxa, Hyperkeratosis, Eczematoid dermatitis OMIM:612379
Adiposis Dolorosa
Xerostomia, Bruising susceptibility, Dry skin, Telangiectasia of the skin, Recurrent skin infections ORPHA:36397
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Subcorneal Pustular Dermatosis
Pustule, Erythema, Pruritus ORPHA:48377
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Chapped lip, Generalized abnormality of skin, Psoriasiform dermatitis, Pustule, Scaling... ORPHA:294023
Angioedema, Hereditary, 1
Erythema, Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema OMIM:106100
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa OMIM:608068
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Facial erythema, Ascites ORPHA:284227
Familial Melanoma
Dry skin ORPHA:618
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Singleton-Merten Syndrome 2
Psoriasiform lesion, Hyperkeratosis OMIM:616298
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis OMIM:242100
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin, Prematurely aged appearance, Premature graying of hair ORPHA:2617
Immunodeficiency 58
Cold urticaria, Eczematoid dermatitis, Cutaneous abscess, Molluscum contagiosum, Chronic mucocuta... OMIM:618131
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer ORPHA:409
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Erythroderma, Hyperkeratosis, Cutaneous photosensitivity ORPHA:312
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Parakeratosis, Jaundice, Epidermal acanthosis, Pruritus OMIM:607626
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, E... OMIM:300918
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Snakebite Envenomation
Erythema, Edema, Angioedema, Ecchymosis ORPHA:449285
Leopard Syndrome 3
Dry skin, Hyperkeratosis, Epidermal hyperkeratosis OMIM:613707
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer ORPHA:767
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Inflammatory abnormality of the skin, Hyperkeratosis, Death in infancy OMIM:610768
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Skin rash, Pruritus, Hyperkeratosis ORPHA:1334
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Follicula... OMIM:257980
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin ORPHA:95715
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Atelis Syndrome 1
Dry skin, Eczematoid dermatitis OMIM:620184
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Livedo reticularis, Scaling skin, Cutaneous photosensitivity OMIM:620370
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep... OMIM:619208
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Kanzaki Disease
Lymphedema, Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffus... OMIM:609242
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma OMIM:612843
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Skin rash, ... ORPHA:761
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Palmoplantar hyperkeratosis, Epidermal acanthosis, Follicular hyperkeratosis OMIM:617388
Nodular Non-Suppurative Panniculitis
Erythema, Edema ORPHA:33577
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin OMIM:620502
Chronic Actinic Dermatitis
Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal acanthosis, Pruritus... ORPHA:330064
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Poor wound healing, Dry skin, Facial erythema, Scaling skin ORPHA:1010
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Glutamine Deficiency, Congenital
Erythema, Neonatal death OMIM:610015
Familial Renal Glucosuria
Dehydration ORPHA:69076
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Mpdu1-Cdg
Eczematoid dermatitis, Scaling skin ORPHA:79323
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Facial erythema, Purpu... OMIM:219090
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Uremic Pruritus
Inflammatory abnormality of the skin, Generalized abnormality of skin, Dry skin, Recurrent skin i... ORPHA:94059
Sunct Syndrome
Facial edema, Palpebral edema, Facial erythema, Flushing ORPHA:57145
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Omenn Syndrome
Dry skin, Pruritus, Erythroderma, Edema ORPHA:39041
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Ichthyosis, Congenital, Autosomal Recessive 10
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615024
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Netherton Syndrome
Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Parakeratosis, Erythroderma, Recurr... OMIM:256500
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Hyperkeratosis, Death in infancy, Peau d'orange OMIM:614576
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Cutis marmorata, Malar rash, Skin rash, Telangiectasia, Pustule, Livedo ... OMIM:615934
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Leopard Syndrome 2
Dry skin OMIM:611554
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Acrokeratosis Verruciformis
Acantholysis, Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Agel Amyloidosis
Xerostomia, Bruising susceptibility, Dry skin, Dermatological manifestations of systemic disorder... ORPHA:85448
Ddost-Cdg
Dry skin ORPHA:300536
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Poor wound healing, Eczematoid dermatitis, Premature graying of hair, Dry skin... OMIM:620331
Jung Syndrome
Dry skin ORPHA:2321
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Basan Syndrome
Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma OMIM:129200
Lichen Planus Pemphigoides
Skin vesicle, Pruritus, Hyperkeratosis ORPHA:254478
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma OMIM:173200
Enteric Anendocrinosis
Dehydration ORPHA:83620
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal a... OMIM:148700
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Cutaneous photosensitivity OMIM:616943
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Scaling skin, Chronic oral candidiasis OMIM:606367
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dry skin OMIM:618010
Kid Syndrome
Folliculitis, Palmoplantar keratoderma, Progeroid facial appearance, Acne inversa, Psoriasiform d... ORPHA:477
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Noonan Syndrome 5
Polyhydramnios, Dry skin OMIM:611553
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity OMIM:278760
Porphyria Cutanea Tarda
Poor wound healing, Cutaneous abscess, Fragile skin, Scaling skin, Cutaneous photosensitivity, Re... ORPHA:101330
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Chapped lip, Recurrent skin infections, Fragile skin, Follicular hyperk... ORPHA:158668
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Generalized abnormality of skin, Dry skin, Pustule ORPHA:37
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Skin rash, Telangiectasia of the skin, Palpebral edema, Pruritus,... ORPHA:93672
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Dry skin, Perioral erythema OMIM:201100
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Eczematoid dermatitis OMIM:620191
Bachmann-Bupp Syndrome
Polyhydramnios, Dry skin OMIM:619075
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Angioedema, Skin rash, Pustule, Erythroderma ORPHA:139402
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper... ORPHA:90186
Central Diabetes Insipidus
Dehydration ORPHA:178029
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Death in childhood, Dehydration OMIM:560000
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Trichothiodystrophy 1, Photosensitive
Dry skin, Death in infancy, Telangiectasia, Erythroderma, Hyperkeratosis, Cutaneous photosensitivity OMIM:601675
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkerat... OMIM:615522
Fountain Syndrome
Facial edema, Erythema, Cutis marmorata ORPHA:3219
Hydroxykynureninuria
Dry skin ORPHA:79155
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Dry skin OMIM:268020
Mednik Syndrome
Erythema, Death in childhood, Death in infancy, Neonatal death OMIM:609313
Xfe Progeroid Syndrome
Ascites, Dry skin, Death in adolescence, Prematurely aged appearance, Cutaneous photosensitivity OMIM:610965
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash, Prematurely aged appearance, Cutaneous photosensitivity, Urticaria ORPHA:220295
Distal Duplication 6P
Dry skin ORPHA:1745
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Cerebral edema, Dry skin OMIM:620510
Hypohidrotic Ectodermal Dysplasia
Dry skin, Xerostomia, Eczematoid dermatitis, Hyperkeratosis ORPHA:238468
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Scaling skin ORPHA:35173
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkerat... ORPHA:69087
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma, Fragile skin OMIM:620415
Microscopic Polyangiitis
Erythema, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Skin rash ORPHA:727
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin, Hypohidrotic ectodermal dysplasia OMIM:614940
Noonan Syndrome 13
Dry skin, Bruising susceptibility, Lymphedema OMIM:619087
Bacterial Toxic-Shock Syndrome
Skin rash, Ecchymosis, Scaling skin, Recurrent skin infections, Edema ORPHA:36234
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Dry skin ORPHA:226313
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Graft Versus Host Disease
Jaundice, Maculopapular exanthema, Inflammatory abnormality of the skin, Scaling skin ORPHA:39812
Hereditary Acrokeratotic Poikiloderma
Erythema, Thin skin, Xerostomia, Skin ulcer, Eczematoid dermatitis, Pustule, Telangiectasia of th... ORPHA:2907
Beta-Ketothiolase Deficiency
Pallor, Dehydration, Edema ORPHA:134
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood, Dehydration OMIM:246450
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin OMIM:262190
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Dehydration ORPHA:33110
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Dry skin, Ectodermal dysplasia, Xerostomia, Periorbital wrinkles OMIM:614941
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis ORPHA:38
Tangier Disease
Dry skin OMIM:205400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Hydromyelia, Eczematoid dermatitis, Dry skin, Oligohydramnios, Death in... OMIM:308205
Iga Pemphigus
Cutaneous abscess, Generalized abnormality of skin, Neutrophilic infiltration of the skin, Pustul... ORPHA:555905
Rat-Bite Fever
Morbilliform rash, Skin rash, Pustule, Erythema nodosum, Scaling skin, Maculopapular exanthema ORPHA:31205
Isovaleric Acidemia
Dehydration OMIM:243500
Porokeratosis 3, Multiple Types
Parakeratosis OMIM:175900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Death in childhood, Skin rash, Cerebral edema OMIM:618321
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis OMIM:615023
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Petechiae, Bruising susceptibility, Thin skin OMIM:225310
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Chikungunya
Facial edema, Erythema, Petechiae, Skin rash, Joint swelling, Crusting erythematous dermatitis, S... ORPHA:324625
Squalene Synthase Deficiency
Dry skin, Cutaneous photosensitivity OMIM:618156
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression, Hyperkeratosis OMIM:247100
Hennekam-Beemer Syndrome
Erythema, Skin vesicle, Telangiectasia of the skin, Pruritus, Urticaria ORPHA:2135
Irida Syndrome
Pallor, Hyperkeratosis ORPHA:209981
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Scaling skin, Edema ORPHA:2526
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Lig4 Syndrome
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:99812
Immunodeficiency 55
Dry skin, Recurrent skin infections, Eczematoid dermatitis OMIM:617827
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Oligohydramnios, Death in infancy, Dehydration OMIM:208085
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Immunodeficiency 23
Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosum, Vascul... OMIM:615816
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Dry skin ORPHA:99832
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Death in childhood, Hydrops fetalis, Dehydration OMIM:557000
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Noonan Syndrome 14
Polyhydramnios, Dry skin, Bruising susceptibility OMIM:619745
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Dermatomyositis
Erythema, Shawl sign, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Cutaneous photosensitivity, ... ORPHA:221
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Adult-Onset Still Disease
Erythema, Joint swelling, Pruritus, Skin rash ORPHA:829
Propionic Acidemia
Eczematoid dermatitis, Dehydration OMIM:606054
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Parakeratosis, Stillbirth, Epidermal acanthosis, Hyperkeratosis OMIM:308050
Congenital Syphilis
Palmoplantar scaling skin, Petechiae, Maculopapular exanthema, Prolonged neonatal jaundice, Hydro... ORPHA:499009
Riddle Syndrome
Telangiectasia, Erythema, Conjunctival telangiectasia, Scaling skin ORPHA:420741
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Dehydration ORPHA:171876
Ifap Syndrome 2
Perioral erythema OMIM:619016
Restrictive Dermopathy 1
Oligohydramnios, Neonatal death, Prominent superficial blood vessels, Scaling skin, Stillbirth, P... OMIM:275210
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Dry skin ORPHA:1812
Cholera
Palmoplantar cutis laxa, Dehydration, Miscarriage ORPHA:173
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Aicardi-Goutieres Syndrome 9
Ascites, Dry skin, Chilblains, Pericardial effusion, Edema OMIM:619487
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Ectodermal dysplasia, Hyperkeratosis OMIM:601701
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Pallor, Dehydration, Edema ORPHA:20
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular hyperkeratosis, Epiderm... OMIM:615225
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:242300
Behcet Syndrome
Erythema, Erythema nodosum OMIM:109650
Alg11-Cdg
Dry skin ORPHA:280071
Refsum Disease
Dry skin ORPHA:773
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Lymphedema, Dry skin, Redundant skin, Excessive wrinkled skin, Hyperker... ORPHA:1340
Helix Syndrome
Dry skin, Xerostomia OMIM:617671
Adult Syndrome
Dry skin, Ectodermal dysplasia, Cutaneous photosensitivity, Eczematoid dermatitis OMIM:103285
Corneodermatoosseous Syndrome
Erythema, Palmoplantar keratoderma ORPHA:3194
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Xeroderma Pigmentosum
Erythema, Dry skin, Telangiectasia, Conjunctival telangiectasia, Telangiectasia of the skin, Hype... ORPHA:910
19Q13.11 Microdeletion Syndrome
Dry skin ORPHA:217346
Den Hoed-De Boer-Voisin Syndrome
Death in adolescence, Dry skin, Oligohydramnios OMIM:619229
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Erythema nodosum OMIM:614700
Warburg-Cinotti Syndrome
Erythema, Poor wound healing, Joint swelling, Follicular hyperkeratosis, Thin skin OMIM:618175
Chromosome 19Q13.11 Deletion Syndrome, Distal
Dry skin, Reduced subcutaneous adipose tissue OMIM:613026
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Fragile skin, Recurrent skin... ORPHA:79396
Shigellosis
Purpura, Dehydration, Urticaria ORPHA:810
Cystinosis
Dehydration ORPHA:213
Tooth Agenesis, Selective, 4
Dry skin, Palmar hyperkeratosis OMIM:150400
Vipoma
Erythema, Subcutaneous lipoma, Ascites, Intermittent jaundice, Dehydration ORPHA:97282
Incontinentia Pigmenti
Erythema, Maculopapular exanthema, Pallor, Hyperkeratosis OMIM:308300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Dehydration, Neonatal death OMIM:263200
Wolcott-Rallison Syndrome
Ascites, Jaundice, Dehydration ORPHA:1667
Incontinentia Pigmenti
Erythema, Skin ulcer, Skin rash, Telangiectasia of the skin, Hyperkeratosis ORPHA:464
Psoriasis-Related Juvenile Idiopathic Arthritis
Malar rash, Psoriasiform lesion, Psoriasiform dermatitis, Skin rash, Pruritus ORPHA:85436
Septo-Optic Dysplasia Spectrum
Dry skin ORPHA:3157
Parkes Weber Syndrome
Prominent superficial blood vessels, Skin ulcer, Scaling skin ORPHA:90307
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Dry skin, Facial edema ORPHA:90674
Alternating Hemiplegia Of Childhood
Pallor, Dehydration, Flushing ORPHA:2131
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Rapp-Hodgkin Syndrome
Dry skin, Palmoplantar keratoderma, Anhidrotic ectodermal dysplasia OMIM:129400
Osteootohepatoenteric Syndrome
Prolonged neonatal jaundice, Pruritus, Dehydration OMIM:619377
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Toxic Epidermal Necrolysis
Erythema, Acantholysis, Skin ulcer ORPHA:537
Fucosidosis
Dry skin, Petechiae, Angiokeratoma, Bruising susceptibility OMIM:230000
Cranioectodermal Dysplasia 3
Dry skin, Ectodermal dysplasia, Cutis laxa OMIM:614099
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erythema, Erysipelas, Bruising susceptibility, Skin rash, Periorbital edema ORPHA:32960
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Koolen-De Vries Syndrome
Dry skin ORPHA:96169
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Restrictive Dermopathy
Generalized hyperkeratosis, Scaling skin, Polyhydramnios, Dermal translucency, Epidermal hyperker... ORPHA:1662
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Kindler Epidermolysis Bullosa
Erythema, Palmoplantar keratoderma, Hyperkeratosis, Recurrent skin infections, Cutaneous photosen... ORPHA:2908
Autosomal Dominant Hypocalcemia
Dry skin, Eczematoid dermatitis ORPHA:428
Koolen-De Vries Syndrome
Dry skin, Eczematoid dermatitis OMIM:610443
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Kikuchi-Fujimoto Disease
Erythema, Malar rash, Pleural effusion, Skin rash, Pustule, Vasculitis in the skin, Palpebral ede... ORPHA:50918
Dend Syndrome
Dehydration ORPHA:79134
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dry skin, Increased nuchal translucency OMIM:620654
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Nestor-Guillermo Progeria Syndrome
Dry skin, Prominent superficial veins, Progeroid facial appearance OMIM:614008
Kawasaki Disease
Skin rash, Palmoplantar erythema, Scaling skin on fingertip, Jaundice, Edema ORPHA:2331
Familial Mediterranean Fever
Erythema, Erysipelas, Ascites, Skin rash, Pedal edema ORPHA:342
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Dry skin, Eczematoid dermatitis ORPHA:508542
Trichothiodystrophy
Eczematoid dermatitis, Dry skin, Congenital exfoliative erythroderma, Prematurely aged appearance... ORPHA:33364
Blau Syndrome
Erythema, Xerostomia, Skin ulcer, Dry skin, Skin rash, Joint swelling, Erythema nodosum ORPHA:90340
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Joint swelling, Skin rash, Pustule, Epidermal acanthosis, Hyperkeratosis OMIM:612852
21Q22.11Q22.12 Microdeletion Syndrome
Dry skin ORPHA:261323
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Dry skin ORPHA:2637
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Fetal ascites, Atopic dermatitis, Dry skin, Oligohydramnios, Reduced subcutaneous adipo... OMIM:619503
Localized Scleroderma
Erythema ORPHA:90289
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Dehydration OMIM:259900
Rothmund-Thomson Syndrome Type 2
Facial edema, Erythema, Facial erythema, Plantar hyperkeratosis ORPHA:221016
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Atopic dermatitis, Periorbital edema, Jaundice, Hydrops fetalis, Purpura, Urticaria OMIM:620376
Dyskeratosis Congenita, Autosomal Dominant 3
Dry skin, Premature graying of hair OMIM:613990
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin OMIM:619306
Dubowitz Syndrome
Dry skin, Cutis marmorata, Cutaneous photosensitivity, Eczematoid dermatitis ORPHA:235
X-Linked Intellectual Disability, Nascimento Type
Dry skin, Oligohydramnios, Recurrent cutaneous abscess formation ORPHA:163956
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Eczematoid dermatitis OMIM:617799
Chime Syndrome
Erythema, Hyperkeratosis, Skin ulcer ORPHA:3474
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Facial erythema, Cutaneous photosensitiv... OMIM:210900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Dry skin, Eczematoid dermatitis, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia OMIM:305100
Eec Syndrome
Dry skin, Xerostomia, Hyperkeratosis ORPHA:1896
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, P... ORPHA:79501
Urachal Cyst
Erythema ORPHA:488
Late-Onset Isolated Acth Deficiency
Dry skin ORPHA:199299
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Lipodystrophy, Familial Partial, Type 7
Progeroid facial appearance, Facial wrinkling, Dry skin, Cutis marmorata, Decreased adipose tissu... OMIM:606721
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin, Thin skin ORPHA:2092
Renal Hypoplasia
Dehydration ORPHA:93101
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Barber-Say Syndrome
Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling OMIM:209885
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma... OMIM:601214
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis... ORPHA:79280
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Thyroid Ectopia
Dry skin, Jaundice ORPHA:95712
Rabson-Mendenhall Syndrome
Dry skin, Reduced subcutaneous adipose tissue, Premature graying of hair ORPHA:769
Hallermann-Streiff Syndrome
Telangiectasia, Dry skin OMIM:234100
Ectodermal Dysplasia And Immunodeficiency 2
Dry skin, Anhidrotic ectodermal dysplasia OMIM:612132
Glucagonoma
Subcutaneous lipoma, Ascites, Necrolytic migratory erythema, Skin rash, Intermittent jaundice, Pr... ORPHA:97280
Cockayne Syndrome B
Progeroid facial appearance, Dry skin, Reduced subcutaneous adipose tissue, Death in childhood, P... OMIM:133540
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Rothmund-Thomson Syndrome Type 1
Telangiectasia, Plantar hyperkeratosis, Facial erythema, Facial edema ORPHA:221008
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Scorpion Envenomation
Pulmonary edema, Erythema, Purpura, Edema ORPHA:466677
Primary Sjögren Syndrome
Xerostomia, Skin ulcer, Dry skin, Cutis marmorata, Erythema nodosum, Purpura ORPHA:289390
Chronic Graft Versus Host Disease
Erythema, Xerostomia, Poor wound healing, Skin ulcer, Ascites, Pleural effusion, Skin vesicle ORPHA:99921
Aicardi-Goutières Syndrome
Dry skin, Cutis marmorata, Chilblains, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess, Skin rash,... OMIM:147060
Melas
Erythema ORPHA:550
Marburg Hemorrhagic Fever
Bruising susceptibility, Skin rash, Petechiae, Jaundice, Maculopapular exanthema, Dehydration ORPHA:99826
Lysosomal Acid Lipase Deficiency
Ascites, Jaundice, Pruritus, Dehydration ORPHA:275761
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hydrops fetalis, Dehydration ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe