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Gene: Il36rn MGI:1859325

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Gene Summary

Name:
interleukin 36 receptor antagonist
Synonyms:
IL1F5,  IL-1H3,  If36rn,  Il1f5,  IL1HY1,  FIL1delta

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Il36rnem1(IMPC)Mbp HOM Early adult 0.00
cataract Il36rnem1(IMPC)Mbp HOM   Early adult 6.14×10-08
abnormal skin morphology Il36rnem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Il36rnem1(IMPC)Mbp HOM   Early adult 6.74×10-08
abnormal kidney morphology Il36rnem1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Il36rn 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 Il36rn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem... OMIM:614204
Generalized Pustular Psoriasis
Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp... ORPHA:247353

The table below shows human diseases predicted to be associated to Il36rn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoblastic Transformation, Intrinsic Defect In
Chronic mucocutaneous candidiasis OMIM:247450
Lymphoblastic Transformation, Inhibition Of
Chronic mucocutaneous candidiasis OMIM:247430
Candidiasis, Familial, 6
Chronic mucocutaneous candidiasis OMIM:613956
Lymphokine Deficiency
Chronic mucocutaneous candidiasis OMIM:247650
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem... OMIM:614204
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... ORPHA:737
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... ORPHA:312
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Dry skin, Hyperkeratosis, Abnorm... ORPHA:2584
Bullous Pemphigoid
Urticaria, Erythema, Psoriasiform dermatitis, Eczema ORPHA:703
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Epidermolytic Hyperkeratosis 1
Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro... OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis, Ichthyosis ORPHA:3052
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... ORPHA:2897
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis ORPHA:79503
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly OMIM:212360
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis ORPHA:36237
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis OMIM:615022
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Urticaria, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Congenital Lethal Erythroderma
Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis ORPHA:1954
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... OMIM:607602
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis OMIM:248300
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma... ORPHA:542592
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... OMIM:615508
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Primary Erythromelalgia
Pruritus, Leukemia, Erythema ORPHA:90026
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi... ORPHA:317
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperke... OMIM:608649
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... ORPHA:79455
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... OMIM:602540
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Sjögren-Larsson Syndrome
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... ORPHA:495
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Recurrent pneumonia, Erythema, Chronic mucocutaneous candidiasis, Eczema... OMIM:147060
Bathing Suit Ichthyosis
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... ORPHA:100976
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Abnormality of the spleen, Darier's sign, Urticaria, Dermatographic urt... ORPHA:79456
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... ORPHA:158673
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... ORPHA:436159
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Dermatitis Herpetiformis
Eczema, Microcytic anemia, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosif... OMIM:609165
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume OMIM:617443
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pruritus,... ORPHA:293173
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Protoporphyria, Erythropoietic, 1
Pruritus, Hemolytic anemia, Erythema, Eczema OMIM:177000
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the ski... OMIM:620321
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:615821
Netherton Syndrome
Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Angioedema, Hypereosinophili... OMIM:256500
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis, Ichthyosis OMIM:616834
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... ORPHA:324964
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... OMIM:308800
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Recu... OMIM:614468
Ichthyosis Vulgaris
Eczematoid dermatitis, Dry skin, Ichthyosis OMIM:146700
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... ORPHA:555905
Anonychia With Flexural Pigmentation
Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis ORPHA:69125
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media... ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells OMIM:617765
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Pa... ORPHA:79399
Omenn Syndrome
Pneumonia, Eosinophilia, Pruritus, Thickened skin, Leukocytosis, Splenomegaly, Thyroiditis, Dry s... ORPHA:39041
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Cutaneous photos... ORPHA:330064
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Keratolytic Winter Erythema
Erythema OMIM:148370
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... OMIM:242300
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis OMIM:614328
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Erythema Of Acral Regions
Erythema OMIM:227000
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Sydenham Chorea
Septic arthritis, Erythema, Endocarditis ORPHA:306731
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
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
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubu... ORPHA:139402
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa, Anemia OMIM:608068
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Sézary Syndrome
Pruritus, Splenomegaly, Dry skin, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte mor... ORPHA:3162
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis ORPHA:79148
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Cataract 42
Cataract, Developmental cataract OMIM:115900
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Telangiectasia, Acute lymphoblastic leukemia, Cutaneous ph... OMIM:606593
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... ORPHA:79395
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... ORPHA:169154
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Immunodeficiency 50
Lymphopenia, Eczema, Neutropenia OMIM:300988
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Pruritus, Myocarditis, Leukocytosis, Splenomegaly, Erythem... ORPHA:829
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Congenital Ichthyosiform Erythroderma
Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangi... OMIM:615934
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Thickened skin, Urticaria, Arthritis, Lymphopenia ORPHA:2582
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma... OMIM:246400
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Urticaria, Angioedema, Erythema ORPHA:100057
Netherton Syndrome
Skin rash, Eczema, Urticaria, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Eryth... ORPHA:634
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Petechiae, Thrombocytopenia, Splenomegaly, Jaundice, Neutrope... ORPHA:540
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Prolidase Deficiency
Pruritus, Splenomegaly, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, C... ORPHA:742
Familial Cold Urticaria
Pruritus, Erythema, Urticaria, Arthritis, Conjunctivitis ORPHA:47045
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis OMIM:612843
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... ORPHA:169160
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Darier's sign, Urticaria, Increased p... ORPHA:98848
Neutrophil Immunodeficiency Syndrome
Poor wound healing, Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... ORPHA:163525
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti... ORPHA:85436
Fixed Drug Eruption
Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Rosaï-Dorfman Disease
Erythema, Anemia ORPHA:158014
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Trichomegaly
Cataract OMIM:190330
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis ORPHA:457
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H... OMIM:604416
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
H Syndrome
Psoriasiform dermatitis, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Chronic rhinitis,... ORPHA:168569
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis ORPHA:1334
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... OMIM:619510
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule, Rheumatoid arthritis ORPHA:48377
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... OMIM:242100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Neonatal Lupus Erythematosus
Hemolytic anemia, Parakeratosis, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemi... ORPHA:398124
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease OMIM:615995
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... OMIM:304790
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cell... OMIM:614878
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Abscess, E... OMIM:615816
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Urticaria, Arthritis, Recurrent aphthous... OMIM:611762
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Psoriasiform dermatitis, Recurrent pneumonia OMIM:615577
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Thickened skin, Splenomegaly, Thrombocytopenia... OMIM:603554
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis ORPHA:231
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Darier Disease
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... ORPHA:218
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Microcytic anemia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin OMIM:612379
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat... ORPHA:727
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule ORPHA:38
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis OMIM:619693
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma OMIM:610163
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Dowling-Degos Disease
Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Generalized abnormality... ORPHA:79145
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Epidermodysplasia Verruciformis
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Lichen Planopilaris
Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer ORPHA:525
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Angioedema, Erythema, Vascular skin abnormality, Skin... ORPHA:761
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Polyarteritis Nodosa
Pericarditis, Erythema, Cutis marmorata, Skin ulcer ORPHA:767
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, St... OMIM:618282
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron... ORPHA:221139
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... OMIM:300635
Galactosemia Iv
Cataract OMIM:618881
Eosinophilopenia
Decreased eosinophil count, Urticaria, Allergic rhinitis OMIM:131430
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... OMIM:613576
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Panniculitis OMIM:619183
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... ORPHA:32960
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Splenomegaly, Recurrent pneumonia, Telangiectasia, Hyperkerato... OMIM:604173
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon... ORPHA:293978
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin, Hepatitis, Hypoplasia of th... ORPHA:436252
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar ... OMIM:617388
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanosis, Purpura ORPHA:343
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Aicardi-Goutieres Syndrome 1
Chilblains, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, ... OMIM:225750
Generalized Pustular Psoriasis
Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp... ORPHA:247353
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P... OMIM:605676
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Leukopenia, Chronic otitis media, Anemia ORPHA:33355
Intermediate Uveitis
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis ORPHA:279914
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Schnitzler Syndrome
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Urticaria, Arthritis, Anemia ORPHA:37748
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Reduced natural killer cell count, Neutropenia OMIM:615214
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... ORPHA:1473
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... OMIM:143200
Erythema Elevatum Diutinum
Skin vesicle, Skin rash, Vasculitis in the skin ORPHA:90000
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Jaundice, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombo... OMIM:603552
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... OMIM:257980
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Lig4 Syndrome
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Acute leukemia, Cutaneous photo... ORPHA:99812
Nodular Non-Suppurative Panniculitis
Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin OMIM:224750
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Urticaria, Arthritis, Conjunctivitis OMIM:120100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Acne, Seborrheic dermatitis OMIM:614441
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins OMIM:615907
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Angioedema, Chronic hepatitis, Hepatosp... ORPHA:3260
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Hyperkeratosis, Stomatitis OMIM:612852
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Mastocytosis, Pruritus, Thickened skin, Erythema, Urticari... ORPHA:2135
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Iritis OMIM:109650
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis OMIM:618625
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Bone Marrow Failure Syndrome 4
Eczema, Anemia, Leukopenia, Dry skin, Thrombocytopenia OMIM:618116
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin OMIM:247100
Morm Syndrome
Micropenis, Cataract, Retinal atrophy ORPHA:75858
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
Acrodermatitis Enteropathica
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis, Generalized abno... ORPHA:37
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Hyperkeratosis, Keratoconjunctivitis sicca, Cutaneous photosensitivity, Congenita... OMIM:601675
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Erythema, Uveitis, Hyperkeratosis... OMIM:308300
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Dry skin, Ichthyosis... OMIM:617827
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Mem... ORPHA:49041
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Ichthyosis OMIM:242150
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring blistering, ... ORPHA:79397
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema, Thrombocytopenia ORPHA:449285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis OMIM:616871
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis ORPHA:36386
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis OMIM:121270
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor ORPHA:3099
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis OMIM:618535
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc... ORPHA:2907
Tempi Syndrome
Telangiectasia, Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno... OMIM:619924
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Ar... ORPHA:93672
Darier-White Disease
Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, Leukocytosis, H... OMIM:612840
Urachal Cyst
Leukocytosis, Peritonitis, Erythema, Abscess ORPHA:488
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Pyod... ORPHA:486
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Pellagra-Like Syndrome
Skin rash OMIM:260650
Toxic Epidermal Necrolysis
Acantholysis, Thrombocytopenia, Erythema, Skin ulcer, Conjunctivitis, Neutropenia, Pancreatitis, ... ORPHA:537
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti... ORPHA:2908
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Webbed neck, Epidermal hyperkeratosis OMIM:613707
Kikuchi-Fujimoto Disease
Skin rash, Pruritus, Myocarditis, Pustule, Thrombocytopenia, Splenomegaly, Erythema, Leukopenia, ... ORPHA:50918
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis ORPHA:494
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Cutaneous photosensitivit... OMIM:152700
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Acne, Seborrheic dermatitis OMIM:167100
Familial Tumoral Calcinosis
Splenomegaly, Erythema, Skin rash ORPHA:53715
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Thin skin... OMIM:615895
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis ORPHA:2269
Incontinentia Pigmenti
Skin rash, Eosinophilia, Telangiectasia of the skin, Keratitis, Erythema, Uveitis, Skin ulcer, Hy... ORPHA:464
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis OMIM:610768
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Striae diste... OMIM:219090
Gcgr-Related Hyperglucagonemia
Stomatitis, Necrolytic migratory erythema ORPHA:438274
Stevens-Johnson Syndrome
Abnormality of neutrophils, Acantholysis, Thrombocytopenia, Erythema, Conjunctivitis, Pancreatiti... ORPHA:36426
Proteus Syndrome
Splenomegaly, Hyperkeratosis OMIM:176920
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... ORPHA:48104
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Eczema, Webbed neck OMIM:615355
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Splenomegaly, Jaundice, Sclerosing cholangitis, Ichthyosis, Orthokeratos... OMIM:607626
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema OMIM:278760
Ramon Syndrome
Hyperkeratosis, Telangiectasia of the skin ORPHA:3019
Limb-Mammary Syndrome
Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis ORPHA:69085
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytopenia, B lympho... ORPHA:277
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... ORPHA:324625
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Chromomycosis
Pruritus, Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot... ORPHA:182
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Splenomegaly, Arthritis, Palmoplantar... ORPHA:2796
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... OMIM:618108
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Erythroderma, Ichthyosis ORPHA:35173
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Acute leukemia, Ichthyosis ORPHA:281090
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease ORPHA:69126
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F... ORPHA:79396
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Keratitis, Thickened skin, Erythema, Tel... ORPHA:910
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Pruritus, Hypersplenism, Leukocytosis, Thrombocytopenia, H... ORPHA:98850
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Erythema, Skin rash OMIM:618321
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Immunodeficiency 97 With Autoinflammation
Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti... OMIM:619802
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyper... OMIM:615225
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Immunodeficiency 32B
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... OMIM:557000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis OMIM:602400
Glutamine Deficiency, Congenital
Erythema OMIM:610015
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias ORPHA:1381
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... OMIM:608203
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjuncti... ORPHA:779
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le... ORPHA:98849
Localized Scleroderma
Fasciitis, Thickened skin, Erythema, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Petechiae, Eczema, Poor wound healing, Thickened skin, Atopic dermatitis, Premature... OMIM:620331
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Erythema, Arthritis... ORPHA:342
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia OMIM:607115
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Erythroderma OMIM:617425
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ... ORPHA:238468
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, Arthritis, Co... ORPHA:2331
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic p... ORPHA:79410
Corneodermatoosseous Syndrome
Thickened skin, Erythema, Palmoplantar keratoderma ORPHA:3194
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:824
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepatitis, Uve... ORPHA:728
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Hyperkeratosis, Inflammation of the large intestine, Dry skin, Thromb... OMIM:614576
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Fountain Syndrome
Erythema, Cutis marmorata ORPHA:3219
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Recurrent pneumonia, Erythema, Telangiectasia, Arthritis,... ORPHA:420741
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Pruritus, Myocarditis, ... ORPHA:221
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly ORPHA:1010
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Meige Disease
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ... ORPHA:90186
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... ORPHA:331206
Hidrotic Ectodermal Dysplasia
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... ORPHA:189
Trichothiodystrophy
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Increased mean corpuscu... ORPHA:33364
Acute Promyelocytic Leukemia
Pancytopenia, Petechiae, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Stomatitis, Ecc... ORPHA:520
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Erythema, Facial erythema, Neutropenia, L... ORPHA:221016
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis OMIM:253260
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Facial erythema, Cutaneous photosensitivity, Leukemia, M... OMIM:210900
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis OMIM:301220
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis ORPHA:276280
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Hidrotic ectodermal dysplasia ORPHA:1883
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Psoria... OMIM:614700
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Mycetoma
Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis... ORPHA:2583
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Webbed neck OMIM:615279
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Chronic Granulomatous Disease
Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Skin ulcer, Otitis me... ORPHA:379
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis OMIM:308050
Chondrodysplasia Punctata 2, X-Linked Dominant
Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma, Erythrod... OMIM:302960
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Thrombocytopenia OMIM:614171
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Poor wound healing, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, R... OMIM:116920
Sialidosis Type 1
Splenomegaly, Hyperkeratosis, Vascular skin abnormality ORPHA:812
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis ORPHA:3474
Proximal Myotonic Myopathy
Cataract ORPHA:606
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule... ORPHA:77297
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... OMIM:308205
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... ORPHA:158668
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Facial erythema, Telangiectasia, Neutrope... ORPHA:221008
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis ORPHA:2237
Warburg-Cinotti Syndrome
Poor wound healing, Erythema, Thin skin, Follicular hyperkeratosis, Sterile abscess OMIM:618175
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... OMIM:617052
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Splenomegaly, Leukocytosis, S... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Progeroid facial appearance, Microcytic anemia, Erythema nodosum, Thrombocytopenia,... OMIM:256040
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer ORPHA:1806
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Gaucher Disease, Perinatal Lethal
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbull... OMIM:608013
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Hypochromic microcytic anemia, Hepa... ORPHA:96123
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Membranoproliferative glomerulonephritis, Epidermal hyperker... OMIM:137940
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
Thrombocytopenia 1
Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility, C... OMIM:313900
Warty Dyskeratoma
Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Pachyonychia Congenita
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... ORPHA:2309
Mednik Syndrome
Erythema, Ichthyosis OMIM:609313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells OMIM:617099
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Poor wound healing, Thickened skin, Urinary bladder inflammation, Erythe... ORPHA:99921
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Costello Syndrome
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity ORPHA:3071
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma OMIM:616029
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ... ORPHA:94059
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth... OMIM:148210
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... ORPHA:29207
Glucagonoma
Skin rash, Acanthocytosis, Pruritus, Necrolytic migratory erythema, Intermittent jaundice, Normoc... ORPHA:97280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Urticar... ORPHA:2273
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Werner Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Skin ulcer, Pre... ORPHA:902
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera... OMIM:609242
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Ichthyosis, Thrombocytopenia OMIM:301072
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Melas
Erythema, Recurrent pancreatitis, Anemia ORPHA:550
Aniridia 3
Aniridia, Cataract OMIM:617142
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... OMIM:260920
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... ORPHA:79280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia,... ORPHA:83617
Transketolase Deficiency
Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin, Thin skin ORPHA:2092
Monilethrix
Follicular hyperkeratosis ORPHA:573
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... OMIM:102700
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Cataract OMIM:146200
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Pneumocystosis
Acute infectious pneumonia, Abnormal neutrophil count, Interstitial pneumonitis, Chronic oral can... ORPHA:723
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Cardiofaciocutaneous Syndrome
Redundant skin, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Excessive wrinkled skin, We... ORPHA:1340
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... ORPHA:95455
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... OMIM:301074
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... OMIM:601812
Ramon Syndrome
Hyperkeratosis, Juvenile rheumatoid arthritis, Angiokeratoma, Telangiectasia OMIM:266270
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Jaundice ORPHA:676
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Bruising susceptibility, Neutropenia ORPHA:79430
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hypereosinophilia... ORPHA:2035
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hemolytic anemia, Erythema, Atopic dermatitis, Hepatosplenom... OMIM:619503
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Fucosidosis
Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality ORPHA:349
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Cyanosis ORPHA:1302
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis OMIM:246200
Cushing Disease
Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Leukocytosis, Bruising susceptibility,... ORPHA:96253
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... OMIM:249100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Webbed neck OMIM:115150
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia ORPHA:36238
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... ORPHA:398063
Vipoma
Normochromic anemia, Erythema, Subcutaneous lipoma, Intermittent jaundice ORPHA:97282
Lethal Acantholytic Erosive Disorder
Fragile skin, Acantholysis ORPHA:158687
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... ORPHA:391487
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Ichthyosis ORPHA:1005
Zollinger-Ellison Syndrome
Jaundice, Erythema, Esophagitis ORPHA:913
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Scorpion Envenomation
Myocarditis, Acute pancreatitis, Erythema, Purpura ORPHA:466677
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
22Q11.2 Deletion Syndrome
Acne, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of the thymus, Chronic otitis me... ORPHA:567
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l... OMIM:308940
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Eec Syndrome
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Hypoplasia of the thymus, Dry ski... ORPHA:1896
Sympathetic Ophthalmia
Erythema, Posterior uveitis ORPHA:79098
Multiple Endocrine Neoplasia Type 4
Erythema, Subcutaneous lipoma, Esophagitis ORPHA:276152
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Webbed neck OMIM:616564
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkera... OMIM:225400
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Hyperkeratosis, Arthritis... ORPHA:324
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Seborrheic dermatitis ORPHA:369950
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... ORPHA:79501
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Leukemia OMIM:605275
De Sanctis-Cacchione Syndrome
Parakeratosis, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity OMIM:278800
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperkeratosis, Webbed neck, Eczema, Ichthyosis OMIM:607721
Leprosy
Abnormality of the spleen, Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Ir... ORPHA:548
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Seborrheic dermatitis, Ichthyosis OMIM:300868
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis OMIM:254090
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly OMIM:610644
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Neutrophilia, Pancytopenia, Erythema nodosum, Myocarditis, Orchitis, Epididym... ORPHA:99827
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Leukocytosis, Recurrent pneumon... ORPHA:99843
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Atypical Werner Syndrome
Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f... ORPHA:79474
Microphthalmia With Linear Skin Defects Syndrome
Erythema ORPHA:2556
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Ichthyosis, Pancreatitis ORPHA:565612
Digeorge Syndrome
Acne, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Hypoplasia of t... OMIM:188400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa OMIM:614557
Koolen-De Vries Syndrome Due To A Point Mutation
Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Recurrent otitis media ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Recurrent otitis media ORPHA:363958
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis OMIM:615510
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Baller-Gerold Syndrome
Erythema OMIM:218600
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Thin skin, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin ORPHA:536545
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema OMIM:612474
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Ectodermal dysplasia, Blepharitis, Thin skin OMIM:129900
Leprechaunism
Acanthosis nigricans, Thickened skin, Hyperkeratosis, Reduced subcutaneous adipose tissue ORPHA:508
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema OMIM:118650
Restrictive Dermopathy
Epidermal hyperkeratosis, Scaling skin, Webbed neck, Generalized hyperkeratosis, Dermal translucency ORPHA:1662
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Ectodermal dysplasia, Blepharitis OMIM:604292
Restrictive Dermopathy 1
Scaling skin, Prominent superficial blood vessels, Thin skin, Epidermal hyperkeratosis OMIM:275210
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Thrombocytopenia ORPHA:99829
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,... OMIM:300166
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperkeratosis, Dry skin, Prolonged neonatal jaundice OMIM:210710
Cowden Syndrome
Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae ORPHA:201
6Q Terminal Deletion Syndrome
Hyperkeratosis ORPHA:75857
Proteus Syndrome
Thymus hyperplasia, Splenomegaly, Thickened skin, Abnormal subcutaneous fat tissue distribution, ... ORPHA:744
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin ORPHA:73223
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

Histopathology

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

There is no histopathology data for Il36rn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Il36rn.

No publications found that use IMPC mice or data for Il36rn.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il36rntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il36rntm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Il36rnem1(IMPC)Mbp Exon Deletion Mice
Il36rntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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