Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... |
OMIM:144200 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Increased circulating IgE level |
ORPHA:89843 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczema |
OMIM:147050 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Pruritus, Increased circulating IgE level, Atopic dermatitis, H... |
ORPHA:90368 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, A... |
OMIM:256500 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Increased ci... |
ORPHA:90280 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Pedal edem... |
ORPHA:98813 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu... |
OMIM:618282 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration |
OMIM:616069 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Atopic dermatiti... |
OMIM:619752 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis |
ORPHA:3406 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... |
OMIM:243700 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d... |
ORPHA:87503 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma |
ORPHA:2897 |
Peeling Skin Syndrome 1 |
|
Pruritus, Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Acantholysis, Pru... |
ORPHA:555905 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Acquired Ichthyosis |
|
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections |
ORPHA:454 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus |
OMIM:618084 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Dehydration, Decreased circulating antibody l... |
ORPHA:634 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... |
OMIM:606367 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:602540 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:619824 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Recurrent skin infections, Eczema, Allergic rhinitis, I... |
ORPHA:443811 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... |
OMIM:615816 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:312 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Increased circulating IgE level, Chronic otitis media |
ORPHA:2314 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... |
OMIM:618394 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Increased circulating IgE level, Atopic dermatitis |
ORPHA:2902 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Polyhydramnios, Pruritus, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
Epidermolytic Hyperkeratosis 1 |
|
Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:604777 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Erythroderma, Hepatitis, Increased circulating antibody level, De... |
ORPHA:169160 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:166113 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Immunodeficiency 22 |
|
Pericarditis, Decreased circulating total IgM, Ascites, Panniculitis, Decreased circulating IgE, ... |
OMIM:615758 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis |
OMIM:612281 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Increased cir... |
OMIM:617388 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Erythroderma |
OMIM:615023 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... |
OMIM:615513 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... |
ORPHA:3261 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula... |
ORPHA:449432 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
OMIM:173200 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Increased circulating antibody level, Conjunctivitis, Oti... |
ORPHA:3392 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... |
OMIM:619220 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hyperkeratosis, Ble... |
OMIM:308800 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Pedal edema, Increased circulating IgG level, Tubulointerstitial nephritis, Cholec... |
ORPHA:449395 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Lead Poisoning |
|
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... |
ORPHA:330015 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... |
OMIM:618108 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Palmoplantar keratoderma, Blepharitis, Eczema |
OMIM:618535 |
Schnitzler Syndrome |
|
Pruritus, Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... |
OMIM:300291 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis |
OMIM:614204 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media |
OMIM:602450 |
Wiskott-Aldrich Syndrome |
|
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... |
OMIM:301000 |
Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... |
ORPHA:276 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Edema, Pruritus, Increased circulating IgM level, Arthritis, ... |
ORPHA:448237 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:617525 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Periorbital ed... |
OMIM:618048 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... |
OMIM:616100 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... |
OMIM:618534 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antib... |
ORPHA:508533 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis |
OMIM:613943 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... |
ORPHA:397596 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Chei... |
ORPHA:293173 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohemagglutinin ... |
OMIM:615559 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Periorbital edema, Ker... |
ORPHA:449563 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... |
OMIM:308240 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema |
ORPHA:83313 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Increased circulating IgG level, Increased circulatin... |
OMIM:209950 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Increa... |
ORPHA:2137 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Pachyonychia Congenita 3 |
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Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... |
OMIM:615934 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgA level, Increased circulating IgM level, Joint swelling, Pann... |
OMIM:617099 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
Pneumocystosis |
|
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... |
ORPHA:723 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Periorbital edema, Arthritis, Panniculitis, Increased circulating... |
OMIM:617591 |
Prolidase Deficiency |
|
Crusting erythematous dermatitis, Increased circulating antibody level, Eczema, Recurrent pneumonia |
OMIM:170100 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased... |
ORPHA:74 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin |
OMIM:610768 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... |
ORPHA:329918 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia |
OMIM:618495 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, M... |
OMIM:260920 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level |
OMIM:614470 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Q Fever |
|
Cryoglobulinemia, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial ef... |
ORPHA:781 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polyhydramnios |
ORPHA:373 |
Tempi Syndrome |
|
Increased circulating IgG level, Ascites, Transudative pleural effusion |
ORPHA:284227 |
Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema |
ORPHA:2483 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Congenital Analbuminemia |
|
Edema, Facial edema, Pedal edema, Increased circulating antibody level, Oligohydramnios |
ORPHA:86816 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Peritonitis, Incre... |
ORPHA:228123 |
Leishmaniasis |
|
Rhinitis, Increased circulating antibody level |
ORPHA:507 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... |
OMIM:616005 |
Poems Syndrome |
|
Edema, Pericardial effusion, Abnormality of skin physiology, Increased circulating antibody level... |
ORPHA:2905 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Recurrent aphthous stomatitis |
ORPHA:2688 |
Uremic Pruritus |
|
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le... |
ORPHA:94059 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Polyhydramnios, Increased circulating IgE level, Atopic dermatitis, In... |
OMIM:619472 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflamm... |
ORPHA:562639 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level |
ORPHA:343 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Osteoarthritis, Pedal edema, Increased circulating antibody level, Ascites |
ORPHA:77259 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, Atopic dermati... |
OMIM:615846 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Macular edema, Increased circulating IgG level, Increased circulat... |
ORPHA:319251 |
Lassa Fever |
|
Facial edema, Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Pruritus, Hepatitis, Gastrointestinal inflammation, Increased ci... |
ORPHA:186 |
Mevalonic Aciduria |
|
Increased circulating IgD level, Skin rash, Edema, Morbilliform rash |
OMIM:610377 |
Scleromyxedema |
|
Pruritus, Paraproteinemia |
ORPHA:167635 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... |
ORPHA:79078 |
Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, C... |
ORPHA:79139 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... |
ORPHA:2298 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Mucopolysaccharidosis-Plus Syndrome |
|
Increased circulating IgM level, Recurrent pneumonia, Nephritis, Bone marrow hypocellularity |
OMIM:617303 |
Alveolar Echinococcosis |
|
Increased circulating antibody level, Cholangitis, Pedal edema, Cutaneous abscess |
ORPHA:284 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
Multiple Myeloma |
|
Increased circulating IgG level, Pleural effusion, Increased circulating IgA level, Decreased cir... |
ORPHA:29073 |
Al Amyloidosis |
|
Xerostomia, Peripheral edema, Increased circulating antibody level |
ORPHA:85443 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Macular edema, Scler... |
ORPHA:91500 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, A... |
OMIM:181000 |
Cystic Echinococcosis |
|
Membranous nephropathy, Increased circulating antibody level |
ORPHA:400 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Pericardial effusion, Erythema nodosum, Myocarditis, Epididymitis, Orchitis, ... |
ORPHA:99827 |
Primary Sclerosing Cholangitis |
|
Pruritus, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerative colitis, Thyroiditis, Pleur... |
ORPHA:171 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Dehydration, Arthritis, Incr... |
ORPHA:99826 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Increased circulating IgM level, Decreased circulating IgG level, Conjunctivitis, Bone marrow hyp... |
ORPHA:505248 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Increased circulating antibody level, Hydrops fetalis |
ORPHA:77261 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased circulating antibody level, Abnormality of humoral immunity, Tubulo... |
ORPHA:470 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Gaucher Disease |
|
Osteomyelitis, Osteoarthritis, Hepatitis, Hydrops fetalis, Increased circulating antibody level |
ORPHA:355 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Yellow Fever |
|
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash, Ac... |
ORPHA:99829 |