Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
Synonyms:
I(Kappa)B(alpha),  Nfkbi,  IkappaBalpha,  I-kappaBalpha

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nfkbia mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Aplasia of the sweat glands, Recurrent respira... OMIM:612132

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

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Chilblain Lupus
Skin rash, Hyperkeratosis, Increased circulating antibody level, Erythematous papule, Pruritis on... ORPHA:90280
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased... ORPHA:169154
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Classic Mycosis Fungoides
Skin rash, Pruritus, Hyperkeratosis, Abnormal lymphocyte morphology, Skin plaque, Erythema, Hypop... ORPHA:2584
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immuni... ORPHA:277
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 55
Ichthyosis, Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retarda... OMIM:617827
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Decreased specific anti-polysa... OMIM:300853
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Papule, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Acquired Ichthyosis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Papule, Recurrent skin ... ORPHA:454
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema ORPHA:158014
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosif... ORPHA:312
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer ORPHA:2337
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Immunodeficiency 40
Lymphopenia OMIM:616433
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Hepatomegaly, Hypereosinophilia, In... OMIM:617388
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Necrobiosis Lipoidica
Indurated nodule, Annular cutaneous lesion, Atrophic scars, Skin plaque, Granuloma, Erythema, Pap... ORPHA:542592
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Hyperkeratosis Lenticularis Perstans
Pruritus, Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis, Milia OMIM:131800
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Skin... ORPHA:498359
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule ORPHA:139414
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Erythrokeratodermia Variabilis
Skin rash, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss, Erythema, Macule, Sho... ORPHA:317
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule, Delayed puberty ORPHA:2297
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly, Dry skin OMIM:212360
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer, Increased circulating IgE level ORPHA:217390
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Skin erosion, Hyperkeratosis, Atrophic scars, Nevus, Failure to thrive, Milia, Aplasia ... ORPHA:89838
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Urticaria, Cutaneous mastocytosis OMIM:154800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Skin plaque, Weight loss, P... ORPHA:507
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Abnormal lymphocyte morphology, Erythema ORPHA:33314
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym... ORPHA:2442
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Papule, Multiple cafe-au-lait spots ORPHA:1336
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Erythema OMIM:617571
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Porokeratosis Plantaris Palmaris Et Disseminata
Aplasia/Hypoplasia of the skin, Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Abnormal immunoglobulin level, Erythema ORPHA:90159
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial ... OMIM:608957
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Peeling Skin Syndrome 1
Scaling skin, Increased circulating IgE level, Erythema OMIM:270300
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Pityriasis Rubra Pilaris
Pruritus, Ichthyosis, Pustule, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, ... ORPHA:2897
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia, Erythema OMIM:147060
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Pyoderma gangre... OMIM:604416
Dermatitis, Atopic
Pruritus, Ichthyosis, Atopic dermatitis, Allergic rhinitis, Facial erythema, Conjunctivitis, Ecze... OMIM:603165
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Annula... ORPHA:555905
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis, Dry skin OMIM:146700
Dracunculiasis
Skin rash, Pruritus, Subcutaneous nodule, Recurrent cutaneous abscess formation, Skin ulcer, Arth... ORPHA:231
Dowling-Degos Disease 2
Hypomelanotic macule, Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Weight loss, Hypopigmented ski... ORPHA:47
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Vasculitis in the skin, N... ORPHA:443811
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Papule, Inflammatory abnormality of the skin ORPHA:157997
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Urticarial plaque, Facial erythema, Palmar pruritus, Pruritus on f... ORPHA:64745
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia, Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Ulerythema Ophryogenesis
Erythema, Follicular hyperkeratosis, Aplasia/Hypoplasia of the skin, Papule, Inflammatory abnorma... ORPHA:3406
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Spotty hypopigmentation, Palmar hyperkeratosis, Hypomelanotic macule, M... ORPHA:79399
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Lichen Planopilaris
Pruritus, Hyperkeratosis, Dermal atrophy, Hepatitis, Hypopigmented skin patches, Papule, Skin ulcer ORPHA:525
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Cole Disease
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma OMIM:615522
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Erythema, Short stature, Inflammatory abnormality of the eye, Dry skin ORPHA:816
Elastosis Perforans Serpiginosa
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... ORPHA:79148
Familial Reactive Perforating Collagenosis
Pruritus, Erythematous papule, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, ... ORPHA:79147
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Hyperkeratosis, Subcutaneous nodule, Atrophic scars, S... ORPHA:89843
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Huriez Syndrome
Palmoplantar keratoderma, Sclerodactyly, Aplasia/Hypoplasia of the skin, Lack of skin elasticity,... ORPHA:384
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Growth delay, Short stature ORPHA:2812
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis ORPHA:60026
Sézary Syndrome
Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte morphology, Splenomegaly, A... ORPHA:3162
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Failure to thrive, Dry skin OMIM:609180
Basan Syndrome
Hyperkeratosis, Milia OMIM:129200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Decreased c... OMIM:617780
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Ja... OMIM:301045
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Erythema OMIM:617525
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis, Hypermelanotic macule ORPHA:69125
Congenital Lethal Erythroderma
Ichthyosis, Congenital exfoliative erythroderma, Hypoalbuminemia, Failure to thrive, Dry skin ORPHA:1954
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Purpura, Erythema, Hepatomegaly, Increased circulating IgA level, Urti... ORPHA:343
Bazex Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Anemia, Parakeratosis ORPHA:166113
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Failure to thrive in infancy, Increased proportion... OMIM:617099
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Acute myeloid leukemia... ORPHA:486
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Lymphopenia, ... OMIM:615816
Lamellar Ichthyosis
Pruritus, Ichthyosis, Hyperkeratosis, Erythroderma, Chronic otitis media, Short stature, Lack of ... ORPHA:313
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia... OMIM:613011
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t... OMIM:256500
Dermatofibrosarcoma Protuberans
Thickened skin, Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Subcutaneous nodule, Extramedullary hematopoiesis, Petechiae, Anemia, Splenomegaly,... OMIM:612840
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Epidermolytic Hyperkeratosis
Scaling skin, Erythroderma, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkera... OMIM:113800
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Hypermelanotic macule, Dry skin OMIM:617920
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Scaling skin, Dry skin OMIM:612952
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Postnatal growth retardation, Short stature, Eczema, Dry skin OMIM:612947
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Omenn Syndrome
Pruritus, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Ane... ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Acanthocytosis, Orthokeratosis, Congenital... OMIM:604777
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Erythematous papule, Panniculitis, Weight loss, Erythematous plaque, Hepatosple... ORPHA:86884
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Follicular h... OMIM:308800
Sweet Syndrome
Abnormal serum interleukin level, Abnormality of tumor necrosis factor secretion, Pyoderma gangre... ORPHA:3243
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Boutonneuse Fever
Increased circulating IgM level, Lymphadenopathy, Thrombocytopenia, Petechiae, Increased circulat... ORPHA:83313
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Prolidase Deficiency
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Thin skin, Erythema, Crusting erythematous de... ORPHA:742
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Increased body weight, Anemia, Increased body mass index, Dry skin OMIM:614450
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Increased circulating IgE level, Failure to thrive OMIM:614328
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi... OMIM:613179
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Cutis laxa, Scaling skin, Epidermal acanthosis, Dry skin ORPHA:2269
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis OMIM:615028
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthokeratosis OMIM:607936
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Bathing Suit Ichthyosis
Ichthyosis, Erythroderma, Scaling skin, Parakeratosis, Thickened skin, Congenital nonbullous icht... ORPHA:100976
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Subcutaneous nodule, Acrokeratosis, Papule ORPHA:38
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Popov-Chang syndrome
Hyperkeratosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis media, Short ... OMIM:618428
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Weight loss, Increased cir... ORPHA:449400
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring alopecia of scalp, P... OMIM:602540
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Hepatitis, Ap... OMIM:300635
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Growth delay, Scaling skin, Erythema, Dry skin OMIM:614457
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Leopard Syndrome 3
Hyperkeratosis, Few cafe-au-lait spots, Growth delay, Epidermal hyperkeratosis, Numerous nevi, Sh... OMIM:613707
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Erythroderma, Patchy palmoplantar hyperkeratosis OMIM:133200
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Crusting erythematou... OMIM:170100
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased p... ORPHA:221139
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Increased circulating IgG level, Telangiectasia ORPHA:284227
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Mildly elevated creatine kinase, Follicular hyperkeratosis, Delayed puberty, Dry skin ORPHA:486815
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia ... OMIM:603554
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Familial Keratoacanthoma
Hyperkeratosis, Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar keratoderma OMIM:615024
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Hyper... OMIM:614576
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Erythema, Increased circulating interleukin 6, Cystic acne, Pyoderma gangrenosum, A... OMIM:608068
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Hepatitis, Anemia, Splenomegaly, Abnormal hemoglobin, Skin u... ORPHA:848
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Microcytic anemia, Hyperkeratosis, Cutis laxa, Eczema OMIM:612379
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Palmoplantar keratoderma OMIM:616295
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Urticaria, Lym... ORPHA:37748
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Keratitis, Failure to thrive, Short... ORPHA:79394
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Myositis, C... ORPHA:69126
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 58
Ichthyosis, Cutaneous abscess, Seborrheic dermatitis, Bronchiectasis, Decreased specific antibody... OMIM:618131
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis OMIM:609165
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections, Failure to thrive OMIM:610680
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Psoriasis 14, Pustular
Pustule, Leukocytosis, Erythema, Cholangitis, Elevated circulating C-reactive protein concentrati... OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma OMIM:615022
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Parakeratosis, Congenital nonbullous icht... OMIM:612281
Takayasu Arteritis
Increased inflammatory response, Subcutaneous nodule, Weight loss, Anemia, Inflammatory abnormali... ORPHA:3287
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Intermittent generalized erythematous papular rash, Annul... ORPHA:284426
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Reduced delayed hypersensit... OMIM:607624
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Ectodermal dysplasia, Aplasia of... OMIM:300291
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Pruritus, Increased circulating IgE level, Chronic otitis media, Eosinophilia, Papule,... ORPHA:2314
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Keloids, Generalized keratosis follicularis, Eczema, Dry skin ORPHA:2890
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:2028
Meige Disease
Skin erosion, Atypical scarring of skin, Recurrent bacterial skin infections, Skin dimple, Cobble... ORPHA:90186
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Erythroderma, Growth delay, Recurrent sk... OMIM:615508
Netherton Syndrome
Skin rash, Ichthyosis, Increased circulating IgE level, Acanthosis nigricans, Decreased circulati... ORPHA:634
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosinophilia, ... ORPHA:74
Granulomatous Slack Skin
Redundant skin, Cutis laxa, Abnormality of the lymph nodes, Erythema ORPHA:33111
Thyrotropin-Releasing Hormone Deficiency
Short stature, Dry skin OMIM:275120
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Chilblain Lupus 1
Skin ulcer OMIM:610448
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Failure to thrive, Lymphadenopathy OMIM:618048
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Ollier Disease
Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Growth delay OMIM:229100
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Weight lo... ORPHA:139402
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatos... OMIM:260920
Bloom Syndrome
Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating... OMIM:210900
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Short stature, Excessive wrinkled skin, Skin ulcer ORPHA:2500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lymphadenitis, Scaling skin, Erythema, Reduced subcutaneous adip... ORPHA:90156
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Moynahan Syndrome
Hyperkeratosis, Cachexia, Short stature ORPHA:2574
Immunodeficiency 31C
Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia, Chronic mucocutaneous candidiasis, Eczema... OMIM:614162
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Recurrent infections, Lymphadenopathy OMIM:615387
Ataxia-Photosensitivity-Short Stature Syndrome
Cutaneous photosensitivity, Urticaria, Dry skin ORPHA:1184
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Scaling skin, Erythema ORPHA:90158
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Weight loss, Increased cir... ORPHA:29073
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Phenylketonuria
Eczema, Scleroderma, Dry skin OMIM:261600
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Erythematous plaque, Parakerat... OMIM:618531
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Hyperkeratosis, Neutropenia, Maculopapular exanthema, Pancytopenia, ... ORPHA:398124
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Cutaneous photosensitivity ORPHA:79278
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Erythema, Hepatomegaly, Hepatitis, Splenomegaly, Neutr... ORPHA:829
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Hyperkeratosis, Cheilitis, Erythema, Hepatitis, Papule, Skin ulcer ORPHA:1334
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Scaling skin, Weight loss, Erythema, De... ORPHA:420741
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Mal De Meleda
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... ORPHA:87503
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Purpura, Hepatomegaly, Chronic decreased circulating total IgG, Comp... OMIM:613496
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hypersplenism, Splenomega... OMIM:613385
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Keloids, Dry skin, Short stature, Obesity ORPHA:3085
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Autoimmune anti... ORPHA:411593
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, R... ORPHA:90363
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Vulvovaginal Gingival Syndrome
Pruritus, Skin erosion, Erythema, Abnormality of tumor necrosis factor secretion, Parakeratosis ORPHA:83453
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Chronic Granulomatous Disease
Abnormality of neutrophils, Otitis media, Macule, Splenomegaly, Inflammatory abnormality of the e... ORPHA:379
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Telangiectasia, Dry skin OMIM:614640
Pemphigus Foliaceus
Skin erosion, Acantholysis, Erythema, Crusting erythematous dermatitis, Skin vesicle ORPHA:79481
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmun... ORPHA:760
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Ort... OMIM:613943
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Verrucous Hemangioma
Hyperkeratotic papule, Skin plaque, Inflammatory abnormality of the skin ORPHA:464318
Polyarteritis Nodosa
Pericarditis, Subcutaneous nodule, Weight loss, Erythema, Elevated circulating C-reactive protein... ORPHA:767
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Recurrent otitis media, Cafe-au-lait spot, Short stature OMIM:618625
Fusariosis
Peritonitis, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, Sinusitis, Myositis... ORPHA:228119
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Acquired Purpura Fulminans
Skin rash, Thrombocytopenia, Macular purpura, Macule, Pyoderma gangrenosum, Elevated circulating ... ORPHA:49566
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Epidermolytic Palmoplantar Keratoderma
Localized epidermolytic hyperkeratosis, Eczema, Palmoplantar keratoderma, Erythema ORPHA:2199
Darier Disease
Pruritus, Acrokeratosis, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragmen... ORPHA:218
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells, Panniculitis, Recurrent respir... OMIM:615758
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Telangiectasia, Dry skin OMIM:600630
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Grubben-De Cock-Borghgraef Syndrome
Eczema, Dry skin ORPHA:2101
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Trichothiodystrophy 6, Nonphotosensitive
Ichthyosis, Mild intrauterine growth retardation, Small for gestational age, Short stature, Dry skin OMIM:616943
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Erythroderma, Keratoconjunctivitis sicca, Small for gestational age, Short statur... OMIM:601675
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Erythema OMIM:614878
Dermoodontodysplasia
Thin skin, Dry skin OMIM:125640
Dermatitis Herpetiformis
Erythema, Skin vesicle, Urticaria, Microcytic anemia ORPHA:1656
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Cholangitis, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Livedoid Vasculopathy
Leukocytosis, Atrophic scars, Polycythemia, Superficial dermal perivascular inflammatory infiltra... ORPHA:542643
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis ORPHA:199267
Toxic Epidermal Necrolysis
Acantholysis, Neutropenia, Weight loss, Erythema, Thrombocytopenia, Conjunctivitis, Macule, Anemi... ORPHA:537
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Mild postnatal growt... OMIM:224120
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Neutropenia, Hypoplasia of the thym... OMIM:612541
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Subcutaneous nodule, Lymphopenia, Panniculitis, Neutropenia, Rhizomelic arm shortening, Reticuloc... ORPHA:508542
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Parakeratosis OMIM:242300
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Erythema OMIM:177000
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Obesity ORPHA:3409
Corneodermatoosseous Syndrome
Erythroderma, Short stature, Palmoplantar hyperkeratosis OMIM:122440
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Growth delay, Pancytopenia, Thrombocytopenia, Anemia, S... OMIM:259720
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Dermatoosteolysis, Kirghizian Type
Keratitis, Skin ulcer OMIM:221810
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer, Short stature ORPHA:1806
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Increased circulating an... ORPHA:449432
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy ORPHA:353298
Familial Benign Chronic Pemphigus
Skin erosion, Acantholysis, Hyperkeratosis, Erythema, Skin vesicle ORPHA:2841
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Erythema Of Acral Regions
Erythema OMIM:227000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Growth delay, Erythema, Congenital ich... OMIM:242100
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Cutaneous Small Vessel Vasculitis
Erythema, Urticaria, Cutis marmorata, Purpura ORPHA:889
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Thickened skin, Leukemia, Cutaneous mastocytosis ORPHA:79456
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema OMIM:607602
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Ichthyosis, Congenital ichthyosiform erythroderma ORPHA:457
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Keratolytic Winter Erythema
Erythema OMIM:148370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... ORPHA:37042
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased serum complement factor B, Abnormality of body weight, Biliary cirrho... ORPHA:2298
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Spider hemangioma, Viral hepatitis, Increased circulating antibody le... ORPHA:2137
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Pruritus, Skin erosion, Atypical scarring of skin, Hyperkeratotic papule, Atrophic scars, Localiz... ORPHA:79410
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin fissure, Palmoplantar keratoderma, Erythema, Thickened skin, Skin ulcer ORPHA:659
Rhizomelic Chondrodysplasia Punctata
Ichthyosis, Rhizomelia, Growth delay, Short stature, Dry skin ORPHA:177
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Bloom Syndrome
Recurrent tonsillitis, Decreased circulating total IgM, Decreased circulating antibody level, Acu... ORPHA:125
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:615952
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Erythema, Pancytopenia, Hepatomegaly, Telangiectasia of the skin, C... ORPHA:99812
Eosinophilopenia
Autoimmunity, Decreased eosinophil count, Allergic rhinitis OMIM:131430
Xfe Progeroid Syndrome
Dermal atrophy, Cachexia, Severe short stature, Dry skin OMIM:610965
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Thin skin, Keratoconjunctivitis sicca, Failure to thrive, Sinusitis, Eczema, Infl... ORPHA:238468
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Erythema Nodosum, Familial
Erythema OMIM:132990
Bullous Impetigo
Abnormality of the lymphatic system, Erythema ORPHA:36237
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Microcytic anemia, Premature graying of hair, Increased c... OMIM:256040
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura ORPHA:743
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly, Hepatomegaly OMIM:615846
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Recurrent br... OMIM:242700
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Thin skin, Erythema ORPHA:455
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500