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Gene: Card14 MGI:2386258

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

caspase recruitment domain family, member 14

Synonyms:

CARMA2, Bimp2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Human diseases associated with Card14 (3 diseases)
Human diseases predicted to be associated with Card14 (815 diseases)

The table below shows human diseases associated to Card14 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897

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

Disease	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	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Chilblain Lupus 2	Chilblains	OMIM:614415
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b...	OMIM:607602
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,...	ORPHA:79395
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop...	ORPHA:530838
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis	ORPHA:3052
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Bazex Syndrome	Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri...	ORPHA:166113
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema	ORPHA:83453
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk...	ORPHA:100976
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre...	OMIM:613953
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle	ORPHA:158681
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Classic Mycosis Fungoides	Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis	OMIM:614204
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin	ORPHA:90368
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly	ORPHA:384
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin	ORPHA:317
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy...	OMIM:308800
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Ichthyosis	ORPHA:1954
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis	ORPHA:79148
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media...	ORPHA:313
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper...	OMIM:616295
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema	ORPHA:703
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Sjögren-Larsson Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis	OMIM:618535
Atrophoderma Vermiculata	Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
C1Q Deficiency 3	Discoid lupus rash	OMIM:620322
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Netherton Syndrome	Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, Congenital nonbullous ichthy...	OMIM:256500
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume	OMIM:617443
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells	OMIM:617765
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the...	ORPHA:324964
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo...	OMIM:602540
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Generalized keratosis follicularis, Eczema, Dry skin	ORPHA:2890
Epidermolytic Hyperkeratosis 1	Scaling skin, Erythroderma, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythro...	OMIM:113800
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dry skin	OMIM:224750
Immunodeficiency 50	Lymphopenia, Eczema, Neutropenia	OMIM:300988
Phenylketonuria	Scleroderma, Dry skin, Eczema	OMIM:261600
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer	ORPHA:525
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis	OMIM:615225
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk...	ORPHA:218
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Dermoodontodysplasia	Dry skin	OMIM:125640
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Atopic dermatiti...	OMIM:618282
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Skin ...	ORPHA:555905
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Dry skin, Erythroderma	ORPHA:3162
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis	OMIM:610768
Prolidase Deficiency	Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar ke...	ORPHA:742
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Webbed neck, Epidermal hyperkeratosis	OMIM:613707
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains	OMIM:612952
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke...	OMIM:617388
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Chromomycosis	Keratitis, Pruritus, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot...	ORPHA:182
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Redundant skin	OMIM:301021
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis	OMIM:615022
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Netherton Syndrome	Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac...	ORPHA:634
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Erosive Pustular Dermatosis Of The Scalp	Pustule	ORPHA:222
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Riddle Syndrome	Dry skin	OMIM:611943
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent sinusitis, Psoriasiform dermatitis, Recurrent pneumonia	OMIM:615577
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ...	ORPHA:238468
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis	OMIM:618625
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosif...	OMIM:609165
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pruritus, Iridocycliti...	ORPHA:85436
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis	ORPHA:1334
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy...	OMIM:606593
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis	OMIM:308050
Omenn Syndrome	Pneumonia, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Dry skin	ORPHA:39041
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Chronic Recurrent Multifocal Osteomyelitis 3	Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash	OMIM:619175
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Atopic dermatitis, Decreased proportion of class-switched memory B cel...	OMIM:618944
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D...	ORPHA:495
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Chronic or...	OMIM:212050
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno...	OMIM:619924
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Pustule, Acne	ORPHA:530
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Acanthosis nigricans, Dry skin	ORPHA:3085
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Ichthyosis	OMIM:616943
Atelis Syndrome 1	Bronchiectasis, Eczema, Dry skin	OMIM:620184
Hatipoglu Immunodeficiency Syndrome	Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae	OMIM:620331
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves...	ORPHA:330058
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Ichthyosis	OMIM:617827
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pneumonia	OMIM:269840
Rhizomelic Chondrodysplasia Punctata	Dry skin, Ichthyosis	ORPHA:177
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Reduced natural killer cell count, Neutropenia	OMIM:615214
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease	ORPHA:69126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Chron...	ORPHA:221139
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis	OMIM:221700
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke...	OMIM:242100
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ...	ORPHA:90186
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la...	OMIM:618108
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Ichthyosis	ORPHA:3055
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin	OMIM:600906
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash, Thin skin	ORPHA:1658
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti...	ORPHA:217390
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Noonan Syndrome 8	Palmoplantar cutis laxa, Hyperkeratosis, Eczema, Webbed neck	OMIM:615355
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot...	ORPHA:229717
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbullous ichthyosiform erythroderma, Ery...	OMIM:601675
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytopenia, B lympho...	ORPHA:277
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art...	OMIM:604416
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Pellagra-Like Syndrome	Skin rash	OMIM:260650
H Syndrome	Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Ichthyosis, Scleroderma	ORPHA:168569
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon...	ORPHA:293978
Dermoodontodysplasia	Dry skin, Thin skin	ORPHA:1660
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Skin rash	OMIM:124950
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine, Dry skin	OMIM:614576
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Dry skin	OMIM:268020
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis	ORPHA:458803
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Porphyria Cutanea Tarda, Type I	Eczema	OMIM:176090
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis	OMIM:616871
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat...	ORPHA:69087
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Thin skin, Palmoplantar hyperkeratosis	ORPHA:158673
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin	OMIM:129490
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Thin skin	OMIM:617364
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90159
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Immunodeficiency 102	Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C...	OMIM:301082
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer	ORPHA:542592
Reticular Dysgenesis	Chronic otitis media, Skin rash, Skin ulcer	ORPHA:33355
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis	OMIM:612843
Familial Melanoma	Dry skin	ORPHA:618
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Acanthosis nigricans, Dry skin	OMIM:262190
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Reynolds Syndrome	Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis, ...	ORPHA:779
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi...	OMIM:616576
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections	ORPHA:94059
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Adiposis Dolorosa	Arthritis, Dry skin, Recurrent skin infections	ORPHA:36397
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczema	OMIM:620191
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P...	OMIM:605676
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve...	ORPHA:48104
Congenital Ichthyosiform Erythroderma	Pruritus, Keratitis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophi...	OMIM:617638
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum...	OMIM:300400
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Leopard Syndrome 2	Dry skin, Webbed neck	OMIM:611554
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer	ORPHA:1806
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis	ORPHA:79397
Tooth Agenesis, Selective, 4	Dry skin, Thin skin, Palmar hyperkeratosis	OMIM:150400
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Erythema, Skin rash, Purpura	ORPHA:889
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Mem...	ORPHA:49041
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis	ORPHA:37
Combined Immunodeficiency-Enteropathy Spectrum	Thickened skin, Psoriasiform dermatitis, Hashimoto thyroiditis, Hepatitis	ORPHA:436252
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Eczema, Thrombocytopenia	OMIM:619751
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Webbed neck	OMIM:615279
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Immunodeficiency 97 With Autoinflammation	Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti...	OMIM:619802
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin	OMIM:601701
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Complex Regional Pain Syndrome	Erythema, Dry skin	ORPHA:83452
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis	ORPHA:69085
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel...	OMIM:619510
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Recurrent pneumonia, Hyperkeratosis, Palmoplantar keratoderma,...	OMIM:604173
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Refsum Disease	Dry skin, Ichthyosis	ORPHA:773
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Ddost-Cdg	Dry skin	ORPHA:300536
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Osteomyelitis, Recurrent pneumonia, ...	ORPHA:47
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic p...	ORPHA:79410
Van Den Bosch Syndrome	Recurrent skin infections, Acrokeratosis	ORPHA:3417
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi...	OMIM:620321
Erythema Elevatum Diutinum	Skin vesicle, Skin rash	ORPHA:90000
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Acrogeria	Excessive wrinkled skin, Thin skin, Skin ulcer	ORPHA:2500
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Cardiofaciocutaneous Syndrome	Redundant skin, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Excessive wrinkled skin, We...	ORPHA:1340
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea...	ORPHA:276
Cortisone Reductase Deficiency 1	Acne	OMIM:604931
Jung Syndrome	Dry skin	ORPHA:2321
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of CD25+ mast ce...	ORPHA:98848
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:147060
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Rapp-Hodgkin Syndrome	Recurrent otitis media, Palmoplantar keratoderma, Thin skin, Dry skin	OMIM:129400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu...	OMIM:619752
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Skin ulcer, Purpura	ORPHA:743
Blau Syndrome	Pericarditis, Skin rash, Erythema nodosum, Retrobulbar optic neuritis, Keratitis, Iridocyclitis, ...	ORPHA:90340
Buerger Disease	Skin ulcer	ORPHA:36258
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Caspase 8 Deficiency	Pneumonia, Splenomegaly, Decreased CD4:CD8 ratio, Eczema	OMIM:607271
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Pachyonychia Congenita 2	Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis	OMIM:167210
Idiopathic Trachyonychia	Circumungual hyperkeratosis, Atopic dermatitis, Ichthyosis	ORPHA:79153
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:93672
Hydroxykynureninuria	Stomatitis, Dry skin	ORPHA:79155
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Cutaneous Collagenous Vasculopathy	Pruritus, Erythema, Skin rash, Petechiae	ORPHA:280779
Xeroderma Pigmentosum	Keratitis, Thickened skin, Erythema, Hyperkeratosis, Thin skin, Dry skin, Blepharitis	ORPHA:910
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Noonan Syndrome 5	Dry skin, Webbed neck	OMIM:611553
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90156
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia	OMIM:615010
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv...	ORPHA:3392
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis	OMIM:619693
Pachyonychia Congenita	Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato...	ORPHA:2309
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Thrombocytopenia	OMIM:614171
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Distal Duplication 6P	Dry skin	ORPHA:1745
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth...	OMIM:148210
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo...	ORPHA:275
Noonan Syndrome 13	Recurrent otitis media, Dry skin, Webbed neck	OMIM:619087
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Chronic otitis media	ORPHA:2314
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut...	ORPHA:486
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity	ORPHA:3071
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Protoporphyria, Erythropoietic, 1	Pruritus, Eczema	OMIM:177000
Prolidase Deficiency	Eczema, Crusting erythematous dermatitis, Recurrent pneumonia, Skin ulcer, Petechiae	OMIM:170100
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media	OMIM:618523
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Skin ulcer, Thin sk...	ORPHA:2907
Recon Progeroid Syndrome	Keratoconjunctivitis sicca, Dry skin, Thin skin, Scaling skin	OMIM:620370
Tangier Disease	Dry skin	OMIM:205400
Spontaneous Periodic Hypothermia	Skin rash, Pallor	ORPHA:29822
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod...	ORPHA:169154
Adult Syndrome	Dry skin, Conjunctivitis, Eczema, Thin skin	OMIM:103285
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato...	OMIM:259100
Dermatitis Herpetiformis	Pruritus, Skin vesicle, Erythema, Eczema	ORPHA:1656
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis	ORPHA:567544
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er...	OMIM:308205
Eec Syndrome	Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:1896
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Pseudopelade Of Brocq	Recurrent skin infections, Cheilitis	ORPHA:129
Autosomal Erythropoietic Protoporphyria	Pruritus, Erythema, Eczema	ORPHA:79278
Atopic Keratoconjunctivitis	Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis	ORPHA:163934
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco...	ORPHA:2686
Koolen-De Vries Syndrome	Dry skin, Ichthyosis	ORPHA:96169
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis	OMIM:614328
Radio-Tartaglia Syndrome	Dry skin, Striae distensae	OMIM:619312
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic anemia, Pustule...	ORPHA:77297
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Recurrent skin infections	OMIM:620210
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Dry skin, Chilblains, Pericarditis	OMIM:619487
19Q13.11 Microdeletion Syndrome	Dry skin, Thin skin	ORPHA:217346
Squalene Synthase Deficiency	Dry skin	OMIM:618156
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, B lymphocytopenia, Dec...	OMIM:618048
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit...	ORPHA:139402
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr...	OMIM:618986
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Skin ulcer, Arthritis	ORPHA:3287
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Macular purpura	ORPHA:49566
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis	OMIM:137940
Agel Amyloidosis	Pruritus, Keratoconjunctivitis sicca, Dry skin, Cutis laxa	ORPHA:85448
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis	ORPHA:2237
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Keratoconjunctivitis sicca, Conjunctivitis, Ichthyos...	ORPHA:33364
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Mpdu1-Cdg	Scaling skin, Eczema, Ichthyosis	ORPHA:79323
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas	ORPHA:2526
Polyarteritis Nodosa	Pericarditis, Erythema, Skin ulcer	ORPHA:767
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
Incontinentia Pigmenti	Maculopapular exanthema, Keratitis, Erythema, Uveitis, Hyperkeratosis, Pallor	OMIM:308300
Bachmann-Bupp Syndrome	Dry skin	OMIM:619075
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczema, Thyroiditis	OMIM:618985
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne	OMIM:612847
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Beta-Thalassemia	Pallor, Hepatitis, Skin ulcer	ORPHA:848
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell count, ...	OMIM:616050
Leishmaniasis	Rhinitis, Pallor, Skin ulcer	ORPHA:507
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent skin infections, Severe periodontitis, Pustule, ...	ORPHA:678
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczema, Thin skin	ORPHA:1810
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,...	OMIM:186580
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno...	OMIM:612840
Familial Peripheral Male-Limited Precocious Puberty	Acne	ORPHA:3000
Chronic Granulomatous Disease	Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye	ORPHA:379
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin	OMIM:614940
9P13 Microdeletion Syndrome	Recurrent otitis media, Dry skin	ORPHA:324313
Incontinentia Pigmenti	Skin rash, Keratitis, Erythema, Uveitis, Skin ulcer, Hyperkeratosis, Infectious encephalitis	ORPHA:464
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras...	ORPHA:35078
Adult Syndrome	Dry skin, Thin skin, Skin ulcer	ORPHA:978
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Pyoderma g...	ORPHA:3243
Toxic Epidermal Necrolysis	Acantholysis, Erythema, Skin ulcer, Conjunctivitis, Pancreatitis	ORPHA:537
Alg11-Cdg	Dry skin	ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis	OMIM:609638
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash	OMIM:105200
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope...	OMIM:304790
Cryoglobulinemic Vasculitis	Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura	ORPHA:91138
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Eczema, Dry skin	ORPHA:508542
Ollier Disease	Skin ulcer	ORPHA:296
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Rhinitis, Periorbital wrinkles, Dry skin	OMIM:614941
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Thin skin	ORPHA:1812
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Familial Mediterranean Fever, Autosomal Dominant	Peritonitis, Erysipelas	OMIM:134610
Autosomal Dominant Hypocalcemia	Dry skin, Eczema	ORPHA:428
Immunodeficiency 96	Recurrent otitis media, Increased proportion of gamma-delta T cells, Increased mean corpuscular v...	OMIM:619774
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Eczema	ORPHA:1525
Werner Syndrome	Hyperkeratosis, Lack of skin elasticity, Skin ulcer	ORPHA:902
Noonan Syndrome 14	Dry skin, Webbed neck	OMIM:619745
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia	OMIM:616069
Rat-Bite Fever	Pericarditis, Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Lymphadenitis, Myoca...	ORPHA:31205
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura	OMIM:608013
Koolen-De Vries Syndrome	Dry skin, Eczema	OMIM:610443
Hyperzincemia With Functional Zinc Depletion	Skin rash	OMIM:601979
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Pruritus, Myocarditis, Leukocytosis, Splenomegaly, Hepatit...	ORPHA:829
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule, Rheumatoid arthritis	ORPHA:48377
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Eczema, Acne inversa	OMIM:301845
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Inflammation of the large inte...	ORPHA:98813
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis	OMIM:246200
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Skin ulcer,...	ORPHA:707
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen...	ORPHA:100026
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Eczema, Rhinitis, Periorbital wrinkles, Thin skin, Dry skin	OMIM:305100
Muckle-Wells Syndrome	Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Ichth...	ORPHA:575
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Chromosome 19Q13.11 Deletion Syndrome, Distal	Dry skin	OMIM:613026
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, Infectious encephali...	ORPHA:761
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
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Fixed Drug Eruption	Stomatitis, Erythema, Crusting erythematous dermatitis	ORPHA:293812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas	OMIM:142680
Hereditary Spherocytosis	Skin ulcer, Maculopapular exanthema, Pallor, Gout	ORPHA:822
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Eczema	OMIM:617799
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer	ORPHA:86884
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Arthritis, Conjunctivitis, Infect...	ORPHA:448237
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Dry skin	ORPHA:261323
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Follicul...	OMIM:158310
Graft Versus Host Disease	Myositis, Inflammatory abnormality of the skin, Maculopapular exanthema, Fasciitis, Pneumonia, Ga...	ORPHA:39812
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis	OMIM:615468
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Webbed neck, Dry skin, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:280000
Cholestasis-Lymphedema Syndrome	Splenomegaly, Erysipelas	OMIM:214900
Stevens-Johnson Syndrome	Erythema, Conjunctivitis, Pancreatitis, Acantholysis	ORPHA:36426
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Xfe Progeroid Syndrome	Dry skin, Death in adolescence	OMIM:610965
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Skin rash, Pustule, Leukopenia, Thrombocytosis, Pustular rash, Malar rash,...	OMIM:615934
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash	ORPHA:85414
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Death in adolescence	OMIM:619229
Familial Benign Copper Deficiency	Acne, Anemia	ORPHA:1551
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia	ORPHA:1059
Free Sialic Acid Storage Disease	Skin ulcer	ORPHA:834
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Rabson-Mendenhall Syndrome	Acanthosis nigricans, Dry skin	ORPHA:769
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells	OMIM:617099
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, M...	ORPHA:542643
Dermatomyositis	Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:221
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Pallor	ORPHA:90036
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperkeratosis, Webbed neck	OMIM:616564
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Menkes Disease	Thickened skin, Osteomyelitis, Dry skin	ORPHA:565
Classic Phenylketonuria	Eczema, Lack of skin elasticity	ORPHA:79254
Late-Onset Isolated Acth Deficiency	Hepatitis, Hashimoto thyroiditis, Dry skin	ORPHA:199299
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct...	OMIM:617591
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis	OMIM:116920
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Pruritus, Thickened s...	ORPHA:90291
Hajdu-Cheney Syndrome	Thickened skin, Dry skin, Periodontitis, Skin ulcer	ORPHA:955
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Leprosy	Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis	ORPHA:548
Dubowitz Syndrome	Dry skin, Eczema	ORPHA:235
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Eczema	OMIM:617052
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Sheehan Syndrome	Pallor, Dry skin, Hashimoto thyroiditis	ORPHA:91355
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Splenomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production	OMIM:612714
B4Galt1-Cdg	Inflammatory abnormality of the skin, Redundant neck skin	ORPHA:79332
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin	ORPHA:2637
Boutonneuse Fever	Skin rash, Leukopenia, Maculopapular exanthema, Thrombocytopenia	ORPHA:83313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Webbed neck, Eczema, Ichthyosis	OMIM:607721
Dyskeratosis Congenita, Autosomal Dominant 3	Dry skin	OMIM:613990
Helix Syndrome	Dry skin	OMIM:617671
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,...	ORPHA:809
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer	ORPHA:2176
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:233710
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis	ORPHA:79242
Cardiofaciocutaneous Syndrome 1	Hyperkeratosis, Webbed neck, Atopic dermatitis, Ichthyosis	OMIM:115150
Antisynthetase Syndrome	Myositis, Skin rash, Pruritus, Myocarditis, Lack of skin elasticity, Keratoconjunctivitis sicca	ORPHA:81
American Trypanosomiasis	Myocarditis, Pallor, Skin rash, Infectious encephalitis	ORPHA:3386
Scalp-Ear-Nipple Syndrome	Thickened skin, Dry skin, Pyelonephritis	OMIM:181270
Cranioectodermal Dysplasia 3	Dry skin, Cutis laxa	OMIM:614099
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Skin ulcer, Arthritis, Panniculitis, Recurrent sinusitis, Re...	OMIM:615688
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Lethal Acantholytic Erosive Disorder	Acantholysis	ORPHA:158687
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Abscess, E...	OMIM:615816
Dengue Fever	Pruritus, Leukopenia, Skin rash, Thrombocytopenia	ORPHA:99828
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Dry skin	ORPHA:163956
Aicardi-Goutières Syndrome	Myositis, Chilblains, Arthritis, Panniculitis, Dry skin	ORPHA:51
Fucosidosis	Dry skin, Petechiae	OMIM:230000
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem...	ORPHA:93552
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Hallermann-Streiff Syndrome	Recurrent pneumonia, Dry skin	OMIM:234100
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni...	OMIM:233690
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Lipodystrophy, Familial Partial, Type 7	Facial wrinkling, Recurrent pancreatitis, Thin skin, Acanthosis nigricans, Dry skin	OMIM:606721
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat...	ORPHA:95455
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Arthritis, Palmoplantar keratoderma, ...	ORPHA:2796
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Thin skin, Palmoplantar hyperkeratosis	OMIM:601812
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha...	ORPHA:540
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis	ORPHA:2035
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Estrogen Resistance	Acanthosis nigricans, Acne	OMIM:615363
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Redundant skin, Dry skin, Thin skin	ORPHA:920
Noonan Syndrome 2	Palmoplantar cutis laxa, Hyperkeratosis	OMIM:605275
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis...	OMIM:260920
Infantile Myofibromatosis	Skin ulcer	ORPHA:2591
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Conjunctivitis, Chronic otitis media	OMIM:608710
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Palmoplantar ...	OMIM:225400
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Iritis	OMIM:109650
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
Dyskeratosis Congenita	Skin ulcer, Palmoplantar keratoderma, Periodontitis, Skin vesicle, Blepharitis	ORPHA:1775
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis	OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Isolated Thyroid-Stimulating Hormone Deficiency	Dry skin	ORPHA:90674
Nestor-Guillermo Progeria Syndrome	Dry skin	OMIM:614008
Syndromic Diarrhea	Colitis, Gastritis, Dry skin	ORPHA:84064
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Skin ulcer, Arthritis, Inflammation of the large intestine, Conjunc...	ORPHA:906
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis	ORPHA:464343
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunc...	ORPHA:2273
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Skin ulcer, Oti...	ORPHA:900
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect...	ORPHA:169105
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Inflammation of the large intesti...	OMIM:617718
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Dry skin	OMIM:210710
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of class-switched me...	OMIM:233600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Pruritus, Pruritus on foot, Cholecystitis, Palmar pruritus	ORPHA:69665
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Atopic dermatitis, Facial erythema, Cutis laxa, Recurrent otitis media, Scaling skin, I...	OMIM:619503
Orofaciodigital Syndrome Type 1	Chronic otitis media, Dry skin	ORPHA:2750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Thin skin...	OMIM:615895
Acute Adrenal Insufficiency	Dry skin	ORPHA:95409
Giant Cell Arteritis	Arthritis, Pericarditis, Skin ulcer	ORPHA:397
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Infectious encephalitis	ORPHA:68
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin	ORPHA:79430
Warburg-Cinotti Syndrome	Erythema, Thin skin, Follicular hyperkeratosis	OMIM:618175
Tangier Disease	Dry skin	ORPHA:31150
Addison Disease	Dry skin, Hashimoto thyroiditis	ORPHA:85138
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Redundant skin, Dry skin, Thin skin	OMIM:200110
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Cockayne Syndrome B	Dry skin, Death in childhood	OMIM:133540
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Decreased proportion o...	OMIM:619381
Chikungunya	Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,...	ORPHA:324625
Dominant Beta-Thalassemia	Pallor, Skin ulcer, Chronic hepatitis	ORPHA:231226
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Recurrent skin infections	ORPHA:79396
Chand Syndrome	Dry skin	ORPHA:1401
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Pruritus, ...	ORPHA:3260
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Chronic Graft Versus Host Disease	Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Ar...	ORPHA:99921
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis	OMIM:253260
Cockayne Syndrome A	Dry skin	OMIM:216400
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin	OMIM:612132
Cushing Disease	Acne, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin, Ecchymosis, Striae distensae,...	ORPHA:96253
Thrombocytopenia 1	Congenital thrombocytopenia, Eczema, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Fowler Urethral Sphincter Dysfunction Syndrome	Acne	ORPHA:2795
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec...	ORPHA:811
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Premature skin wrinkling, Dry skin, Thin skin	OMIM:264090
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Hyperkeratosis, Eczema, Ichthyosis	ORPHA:363958
Noonan Syndrome 1	Dry skin, Synovitis, Webbed neck	OMIM:163950
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa, Recurrent otitis m...	OMIM:150230
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration	OMIM:256800
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Septic arthritis, Dry skin, Recurrent aspiration pneumonia	ORPHA:642
Restrictive Dermopathy	Epidermal hyperkeratosis, Scaling skin, Webbed neck, Generalized hyperkeratosis, Dermal translucency	ORPHA:1662
Atypical Werner Syndrome	Hyperkeratosis, Thin skin, Skin ulcer, Lack of skin elasticity	ORPHA:79474
Fabry Disease	Hyperkeratosis, Arthritis	ORPHA:324
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent skin infections, Pneumonia, Osteomyelitis, Perianal ab...	ORPHA:2968
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erythema, Arthritis, Erysipelas, ...	ORPHA:342
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Mullerian Aplasia And Hyperandrogenism	Acne	OMIM:158330
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Acral ulcerat...	ORPHA:91139
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis	ORPHA:565612
Beta-Thalassemia Major	Pallor, Skin ulcer	ORPHA:231214
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Leprechaunism	Acanthosis nigricans, Thickened skin, Hyperkeratosis	ORPHA:508
Kikuchi-Fujimoto Disease	Skin rash, Pruritus, Myocarditis, Pustule, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocyto...	ORPHA:50918
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Restrictive Dermopathy 1	Scaling skin, Thin skin, Epidermal hyperkeratosis	OMIM:275210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Blepharitis, Thin skin	OMIM:129900
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cheilitis, Arthritis, Conjunctivit...	ORPHA:2331
Reynolds Syndrome	Pruritus, Scleroderma, Sclerodactyly, Erythema nodosum	OMIM:613471
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Blepharitis	OMIM:604292
Kyphoscoliotic Ehlers-Danlos Syndrome	Thin skin, Follicular hyperkeratosis	ORPHA:536545
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Pneumonia	ORPHA:26793
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Skin ulcer, Arthritis, Periodontitis, Chronic otitis media	ORPHA:534
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Urinary bladder ...	ORPHA:449395
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Skin ulcer, Bacterial endocarditis	ORPHA:2072
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Skin ulcer, Recurrent cutaneous fungal infections, Thin skin, Ecchymosis, Striae distensae,...	ORPHA:99889
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Dry skin	ORPHA:99646
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis	ORPHA:744
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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 Card14

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 Card14.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity.	Experimental and molecular pathology (July 2019)	Card14^{tm1a(EUCOMM)Hmgu}	31323190

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MGI Allele	Allele Type	Produced
Card14^{tm157(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Card14^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Card14^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Card14^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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