Not currently registered for phenotyping at IMPC

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

Gene Summary

caspase recruitment domain family, member 14
CARMA2,  Bimp2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Card14 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 Card14 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Card14 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Candidiasis, Familial, 6
Chronic mucocutaneous candidiasis OMIM:613956
Lymphoblastic Transformation, Intrinsic Defect In
Chronic mucocutaneous candidiasis OMIM:247450
Lymphoblastic Transformation, Inhibition Of
Chronic mucocutaneous candidiasis OMIM:247430
Lymphokine Deficiency
Chronic mucocutaneous candidiasis OMIM:247650
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosif... OMIM:612281
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Ichthyosis Vulgaris
Dry skin, Eczematoid dermatitis, Ichthyosis OMIM:146700
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... ORPHA:79395
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin ORPHA:90368
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... ORPHA:530838
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat... ORPHA:3406
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus, Exce... ORPHA:498359
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa... OMIM:603165
Bazex Syndrome
Acanthosis nigricans, Pruritus, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Scaling ... ORPHA:166113
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R... OMIM:615508
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Parakeratosis ORPHA:83453
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Classic Mycosis Fungoides
Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Erythema, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis OMIM:614204
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Scaling skin, C... ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Cholangitis, Parakeratosis, Orthokeratosis, Ichthyosis, Dry skin OMIM:607626
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl... OMIM:300918
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:617525
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... ORPHA:87503
Immunodeficiency 55
Dry skin, Eczema, Recurrent skin infections, Ichthyosis OMIM:617827
Recessive X-Linked Ichthyosis
Dry skin, Ichthyosis, Hyperkeratosis ORPHA:461
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
Huriez Syndrome
Sclerodactyly, Dry skin, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:384
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Parakeratosis OMIM:242300
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr... OMIM:308800
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin, Erythroderma, Hyperkeratosis OMIM:609180
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Ichthyosis ORPHA:1954
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis... ORPHA:313
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Sjögren-Larsson Syndrome
Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:816
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia OMIM:615615
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema ORPHA:79100
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Thickened skin, Arthritis, Uveitis, Skin rash, Generalized hyperkeratosis ORPHA:92
Lichen Planus Pemphigoides
Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis, Skin vesicle ORPHA:254478
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis ORPHA:2269
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Blepharitis, Ichthyosis OMIM:616834
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Splenomegaly, Crohn's disease, Autoim... OMIM:616100
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis OMIM:617765
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Odontoonychodermal Dysplasia
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis OMIM:257980
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Netherton Syndrome
Congenital nonbullous ichthyosiform erythroderma, Allergic rhinitis, Erythroderma, Parakeratosis OMIM:256500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... ORPHA:324964
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Scaling... OMIM:113800
Pili Torti-Onychodysplasia Syndrome
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma ORPHA:2890
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma, Erythema, Thin skin, Ichthyosis ORPHA:455
Immunodeficiency 50
Eczema, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, T lymphocytopenia, Chronic oral... OMIM:606367
Dry skin, Eczema, Scleroderma OMIM:261600
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis ORPHA:398124
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis OMIM:602540
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Lichen Planopilaris
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis ORPHA:525
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo... ORPHA:477
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma OMIM:615024
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Dry skin OMIM:125640
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis OMIM:606545
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis OMIM:616295
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer ORPHA:231
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Darier Disease
Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokerat... ORPHA:218
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Sézary Syndrome
Dry skin, Pruritus, Palmoplantar keratoderma, Erythroderma ORPHA:3162
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Leopard Syndrome 3
Epidermal hyperkeratosis, Webbed neck, Dry skin, Hyperkeratosis OMIM:613707
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutan... ORPHA:555905
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Thrombocytopenia OMIM:606593
Prolidase Deficiency
Pruritus, Palmoplantar keratoderma, Erythema, Thin skin, Hyperkeratosis, Dry skin, Crusting eryth... ORPHA:742
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Follicular hyperkeratosis, Uveitis, Thyroiditis, ... OMIM:617388
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Dry skin, Eczema OMIM:612947
Keratoconjunctivitis sicca, Hyperkeratotic papule, Pruritus, Hyperparakeratosis, Keratitis, Hyper... ORPHA:182
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Keratolytic Winter Erythema
Pustule ORPHA:50943
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis OMIM:615022
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle ORPHA:79145
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ski... ORPHA:634
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin OMIM:301021
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis, Generalized ichthyosis OMIM:608649
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Acanthosis nigricans OMIM:618527
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Palmoplantar hy... ORPHA:79501
Riddle Syndrome
Dry skin OMIM:611943
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis OMIM:615577
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Psoriasiform dermatitis, Cholangitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Erythema, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... OMIM:242100
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Thin skin, Inflammatory abnormality of the eye, Hy... ORPHA:238468
Pruritus, Hyperkeratosis ORPHA:79358
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca... ORPHA:294023
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Pruritus, Oligoarthritis, Sacroiliac arthritis, Ant... ORPHA:85436
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis OMIM:618625
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Osteomyelitis OMIM:259680
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Omenn Syndrome
Erythroderma, Pneumonia, Pruritus, Thickened skin, Thyroiditis, Dry skin ORPHA:39041
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Osteomyelitis ORPHA:36386
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia OMIM:269840
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin, Palmoplantar hyperkeratosis OMIM:206600
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis, Hyperkeratosis ORPHA:457
Chronic Mucocutaneous Candidiasis
Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer ORPHA:1334
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Aplastic anemia... OMIM:300635
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis, Acrokeratosis OMIM:124200
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling ORPHA:228240
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Bronchiectasis, Recurrent otitis media, Abnormal lymphocyte morphology, ... ORPHA:293978
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin OMIM:308205
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Acanthosis nigricans ORPHA:3085
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Rhizomelic Chondrodysplasia Punctata
Dry skin, Ichthyosis ORPHA:177
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Congenital ichthyosiform erythroderma, Parakeratosis, Hyperkeratosis OMIM:308050
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thickened skin, Angular cheilitis, Recurrent cutaneous fungal infections, Recurrent bacterial ski... ORPHA:495
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis ORPHA:530
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Thin skin OMIM:617364
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Popov-Chang syndrome
Dry skin, Recurrent otitis media, Hyperkeratosis OMIM:618428
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent otitis media, Recur... ORPHA:277
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Ichthyosis OMIM:616943
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Skin ulcer ORPHA:69126
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, B lymphocytopenia, Recurrent aspiration pneumonia, Chronic oral candidia... ORPHA:221139
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma OMIM:613576
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Hyper... OMIM:601675
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Meige Disease
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Skin ulcer, Recurrent skin ... ORPHA:90186
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash, Thin skin ORPHA:1658
Scaling skin, Dry skin OMIM:257960
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Ichthyosis ORPHA:3055
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Angular cheilitis, Skin vesicle OMIM:613102
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Pyoderma gangrenosum, Recurrent skin infections, Recurrent pneumonia, Recurrent s... OMIM:616576
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal absce... OMIM:618108
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Pellagra-Like Syndrome
Skin rash OMIM:260650
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Xeroderma Pigmentosum Variant
Dry skin, Keratitis ORPHA:90342
Dry skin, Thin skin ORPHA:1660
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Noonan Syndrome 8
Webbed neck, Eczema, Palmoplantar cutis laxa, Hyperkeratosis OMIM:615355
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Recurrent bacterial skin infectio... ORPHA:217390
H Syndrome
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Ichthyosis, Scleroderma ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Inflammation of the large intestine, Hyperkeratosis OMIM:614576
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia OMIM:616871
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90159
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat... ORPHA:69087
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Dry skin OMIM:104570
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator... ORPHA:229717
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin, Acanthosis nigricans OMIM:268020
Generalized Eruptive Histiocytosis
Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Keratitis, Facial erythema, Blepharitis, Conjunctivitis OMIM:612843
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Crusting erythematous dermatitis, Palmoplantar keratosis with erythema and scale, Erythema, Thin ... ORPHA:158673
Familial Melanoma
Dry skin ORPHA:618
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Pruritus, Skin vesicle ORPHA:79410
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Acanthosis nigricans OMIM:262190
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Chilblain Lupus 1
Skin ulcer OMIM:610448
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Skin ulcer ORPHA:542592
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Milroy Disease
Erysipelas, Hyperkeratosis ORPHA:79452
Proteus Syndrome
Hyperkeratosis OMIM:176920
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Skin rash ORPHA:33355
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Dry skin OMIM:255900
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Pruritus, Arthritis, Sclerodactyly, Skin ras... ORPHA:779
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections, Dry skin ORPHA:94059
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis ORPHA:79394
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Decreased proport... OMIM:615518
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Rheumatoid arthritis, Skin ulcer, Skin ve... ORPHA:48104
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Leopard Syndrome 2
Dry skin, Webbed neck OMIM:611554
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Immunodeficiency 31C
Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia OMIM:614162
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Skin ulcer, Acral ulceration ORPHA:139578
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Eczema, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Adiposis Dolorosa
Dry skin, Recurrent skin infections, Arthritis ORPHA:36397
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Cutaneous Small Vessel Vasculitis
Purpura, Recurrent skin infections, Skin rash, Erythema ORPHA:889
Ramon Syndrome
Hyperkeratosis ORPHA:3019
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Chronic oral candidiasis, ... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Eczema, Eosinophilia OMIM:243700
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Skin ulcer, Hyperkeratosis ORPHA:1806
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79397
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Hyperkeratosis OMIM:601701
Pachyonychia Congenita 2
Folliculitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis OMIM:167210
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin ORPHA:2617
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Mem... ORPHA:49041
Xfe Progeroid Syndrome
Dry skin OMIM:610965
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis OMIM:603552
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
9P13 Microdeletion Syndrome
Dry skin, Recurrent otitis media ORPHA:324313
Acrodermatitis Enteropathica
Pustule, Cheilitis, Erythema, Dry skin, Blepharitis, Skin ulcer, Conjunctivitis ORPHA:37
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
Aicardi-Goutieres Syndrome 3
Chilblains, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Thickened skin, Hepatitis, Hashimoto thyroiditis ORPHA:436252
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ... OMIM:619510
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hyperkeratosis OMIM:615279
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermatitis, Pruritus,... ORPHA:83617
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Psoriasiform dermatitis, Dry skin, Blepharitis ORPHA:69085
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema ORPHA:659
Refsum Disease
Dry skin, Ichthyosis ORPHA:773
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Indolent Systemic Mastocytosis
Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa... ORPHA:98848
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis OMIM:612852
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin ORPHA:95715
Complex Regional Pain Syndrome
Dry skin, Erythema ORPHA:83452
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... ORPHA:189
Kanzaki Disease
Dry skin, Hyperkeratosis OMIM:609242
Corneodermatoosseous Syndrome
Erythroderma, Palmoplantar hyperkeratosis OMIM:122440
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Erythema Elevatum Diutinum
Skin rash, Skin vesicle ORPHA:90000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Chronic oral candidiasis, Chronic mucocutaneous... ORPHA:276
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Keratitis OMIM:221810
Methylmalonic Acidemia With Homocystinuria
Skin rash ORPHA:26
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis... ORPHA:911
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Sclerodactyly, Scaling skin, Facial erythema, Dry skin ORPHA:1010
Jung Syndrome
Dry skin ORPHA:2321
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Schnitzler Syndrome
Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Skin rash ORPHA:37748
Immunodeficiency 58
Eczema, Allergic rhinitis, Psoriasiform lesion, Recurrent cutaneous abscess formation, Seborrheic... OMIM:618131
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... ORPHA:47
Dry skin ORPHA:300536
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... ORPHA:535
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, B lymphocytopenia, Rhinitis, Otitis media, Decreased proportion of ... ORPHA:70593
Excessive wrinkled skin, Skin ulcer, Thin skin ORPHA:2500
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis OMIM:120100
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Pyoderma gangrenosum, Panniculitis, Acne inversa, Erythema OMIM:608068
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, Webbed neck, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Dry s... ORPHA:1340
Warty Dyskeratoma
Epidermal thickening, Acrokeratosis, Acantholysis ORPHA:69745
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura, Thin skin ORPHA:743
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis OMIM:262020
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Idiopathic Trachyonychia
Atopic dermatitis, Ichthyosis, Circumungual hyperkeratosis ORPHA:79153
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv... ORPHA:169160
Cutaneous Collagenous Vasculopathy
Pruritus, Erythema, Skin rash, Petechiae ORPHA:280779
Follicular hyperkeratosis ORPHA:573
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis OMIM:616395
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Blau Syndrome
Abnormal inflammatory response, Pericarditis, Synovitis, Posterior uveitis, Retrobulbar optic neu... ORPHA:90340
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... OMIM:242700
Juvenile Dermatomyositis
Pericarditis, Myositis, Pruritus, Erythema, Arthritis, Skin rash, Dry skin, Skin ulcer ORPHA:93672
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Skin ulcer, Bronchiectasis OMIM:604571
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis ORPHA:567544
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Pustule OMIM:616069
Xeroderma Pigmentosum
Thickened skin, Erythema, Thin skin, Keratitis, Hyperkeratosis, Dry skin, Blepharitis ORPHA:910
Dry skin, Stomatitis ORPHA:79155
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Otitis media, Juvenile rh... ORPHA:275
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... ORPHA:158668
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Buerger Disease
Skin ulcer ORPHA:36258
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema OMIM:177000
Noonan Syndrome 5
Dry skin, Webbed neck OMIM:611553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema OMIM:615895
Estrogen Resistance
Acanthosis nigricans, Acne OMIM:615363
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Skin rash OMIM:147060
Van Den Bosch Syndrome
Acrokeratosis, Recurrent skin infections ORPHA:3417
Brain abscess, Leukocytosis, Pneumonia, Anemia, Otitis media, Inflammatory abnormality of the eye... ORPHA:3392
Distal Trisomy 6P
Dry skin ORPHA:1745
Immunodeficiency 70
B lymphocytopenia, Furuncle, Decreased proportion of CD4-positive helper T cells, Colitis, Recurr... OMIM:618969
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive... OMIM:617241
Perifollicular hyperkeratosis OMIM:158000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:572
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Eczema, Pneumonia, Splenomegaly OMIM:607271
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Noonan Syndrome 13
Dry skin, Webbed neck, Recurrent otitis media OMIM:619087
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis ORPHA:2583
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia OMIM:607115
Tangier Disease
Dry skin OMIM:205400
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Costello Syndrome
Lack of skin elasticity, Acanthosis nigricans, Redundant skin, Hyperkeratosis ORPHA:3071
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Pruritus, Osteomyelitis, Skin rash, Skin ulcer, Skin vesicle ORPHA:2314
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Leukem... ORPHA:486
Coffin-Siris Syndrome 8
Eczema OMIM:618362
Spontaneous Periodic Hypothermia
Pallor, Skin rash ORPHA:29822
Dermatitis Herpetiformis
Pruritus, Eczema, Erythema, Skin vesicle ORPHA:1656
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema, Erythema ORPHA:79278
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin ORPHA:226313
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h... OMIM:259100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymp... ORPHA:169154
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Eec Syndrome
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis ORPHA:1896
Prolidase Deficiency
Eczema, Petechiae, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer OMIM:170100
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Erythema, Arthritis, Pancreatitis, Increased ... ORPHA:727
Adult Syndrome
Dry skin, Eczema, Thin skin, Conjunctivitis OMIM:103285
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosplenomega... OMIM:618935
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Eosinophilia OMIM:618523
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Hyperkerato... ORPHA:29207
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Tooth Agenesis, Selective, 4
Dry skin OMIM:150400
Pseudopelade Of Brocq
Cheilitis, Recurrent skin infections ORPHA:129
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Dry skin, Blepharitis, Keratitis ORPHA:163934
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Pustule, Perianal erythema, Perioral erythema, Blepharitis OMIM:614328
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer, Osteomyelitis ORPHA:2218
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... ORPHA:77297
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Autosomal Agammaglobulinemia
Sinusitis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis... ORPHA:33110
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Squalene Synthase Deficiency
Dry skin OMIM:618156
Aicardi-Goutieres Syndrome 9
Dry skin, Chilblains, Pericarditis, Acute pancreatitis OMIM:619487
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Angular chei... ORPHA:2309
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratoconjunctivitis sicca, Recurrent bacterial skin infections, Ichthyosis, Hyperkeratosis OMIM:148210
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Scaling skin, Eczema, Ichthyosis ORPHA:79323
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis OMIM:618985
19Q13.11 Microdeletion Syndrome
Dry skin, Thin skin ORPHA:217346
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Koolen-De Vries Syndrome
Dry skin, Ichthyosis ORPHA:96169
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Erythema, Thin skin, Ichthyosis, Keratoconjunctivitis, Palmoplantar hyperkeratos... ORPHA:2907
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Skin rash OMIM:618048
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash ORPHA:220295
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Thin skin ORPHA:1810
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Agel Amyloidosis
Keratoconjunctivitis sicca, Pruritus, Dry skin, Cutis laxa ORPHA:85448
Keratoconjunctivitis sicca, Eczema, Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Co... ORPHA:33364
Papillon-Lefèvre Syndrome
Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Palmoplantar keratoderma, P... ORPHA:678
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media... OMIM:618986
Leukocyte Adhesion Deficiency, Type Iii