banner
Genes Phenotypes Help, News, Blog

Gene: Nfkbia MGI:104741

Log in to follow
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-kappaBalpha,  I(Kappa)B(alpha),  IkappaBalpha,  Nfkbi

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Anh... 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, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Chroni... ORPHA:90280
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Urticaria, Chronic noninfectious lymphadenopathy, Autoimmune he... OMIM:601859
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Dry skin, Facial erythema, Follicular... ORPHA:3406
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Classic Mycosis Fungoides
Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Abnormal lymph... ORPHA:2584
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur... OMIM:269840
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular... ORPHA:737
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Erythroderma, Congenital bullous i... ORPHA:312
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o... ORPHA:277
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa... ORPHA:454
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule ORPHA:2337
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema ORPHA:158014
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Reticular Dysgenesis
Failure to thrive, Skin ulcer, Leukopenia, Skin rash, Weight loss, Anemia, Abnormality of neutrop... ORPHA:33355
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Indurated nodule, Granuloma, Skin ulcer, Skin nod... ORPHA:542592
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Decreased circulatin... OMIM:618116
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, Lymphopenia, Spleno... OMIM:620603
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increa... OMIM:617388
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule ORPHA:409
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Skin pl... ORPHA:498359
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Skin ulcer, Abnormal lymphocyte morphology, Otitis media, Skin rash... ORPHA:229717
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Failure to thrive, Lymphopenia, Leukopenia, Cutis marmorata, Follicular hyperplasia, Te... OMIM:615934
Leishmaniasis
Hypoalbuminemia, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage ... ORPHA:507
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Weight loss, Macule, Short sta... ORPHA:317
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Delayed puberty, Hyperkeratosis ORPHA:2297
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Nevus, Failure to thrive, Atrophic scars, Milia, Palmoplantar hyperkeratosis, Aplas... ORPHA:89838
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans, Urticaria OMIM:154800
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... OMIM:604777
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, Skin ulcer, B lymphocytopenia ORPHA:217390
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Papule, Hyperkeratosis ORPHA:1336
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno... OMIM:618495
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly,... OMIM:614470
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... OMIM:620507
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Iga Pemphigus
Skin erosion, Cutaneous abscess, Ulcerative colitis, Neutrophilic infiltration of the skin, Skin ... ORPHA:555905
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Decreased ... OMIM:615607
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Scaling skin OMIM:270300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Hyperkeratosis, Scaling skin OMIM:617571
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Pyoderma gangrenosum, Colitis, Sterile absce... OMIM:604416
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... OMIM:102700
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Dracunculiasis
Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess form... ORPHA:231
X-Linked Agammaglobulinemia
Recurrent pneumonia, Failure to thrive, Hypopigmented skin patches, Skin ulcer, Hepatitis, Osteom... ORPHA:47
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Ichthyos... OMIM:603165
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Pruritus, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyp... ORPHA:79399
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Pruritus, Papule, Hyperkeratosis ORPHA:525
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Eczematoid dermatitis, Microcytic anemia, Dry skin, Ichthyosis, Cutis laxa, Hy... OMIM:612379
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis ORPHA:315
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... OMIM:620632
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Crusting erythe... ORPHA:79147
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Ichthyosis With Confetti
Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Short... OMIM:609165
Pemphigus Foliaceus
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma... ORPHA:79481
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Dermal atrophy, Interstitial pneum... ORPHA:454831
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Su... ORPHA:89843
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive, Dry skin, Ichthyosis, Congenital exfoliative erythroderma ORPHA:1954
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Papule, Histiocytosis, Skin rash ORPHA:157997
Sjögren-Larsson Syndrome
Erythema, Dry skin, Ichthyosis, Short stature, Inflammatory abnormality of the eye, Hyperkeratosis ORPHA:816
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re... ORPHA:83471
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Increased circulating interferon-gamma concentration, Thrombocytopenia OMIM:612952
Sézary Syndrome
Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immuno... ORPHA:3162
Huriez Syndrome
Palmoplantar keratoderma, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Scle... ORPHA:384
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Parana Hard Skin Syndrome
Short stature, Thickened skin, Hyperkeratosis, Growth delay ORPHA:2812
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... OMIM:256500
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell ... OMIM:304790
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi... ORPHA:444463
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Immunodeficiency 23
Erythema, Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia,... OMIM:615816
Amyloidosis, Primary Localized Cutaneous, 3
Hypopigmented macule, Dry skin, Hypermelanotic macule, Pruritus OMIM:617920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:436159
Diffuse Cutaneous Mastocytosis
Dermatographic urticaria, Generalized abnormality of skin, Abnormality of the spleen, Abnormality... ORPHA:79456
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Hepatomegaly, Acrocyanos... ORPHA:343
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Short stature, Pruritus, Hyperkerato... ORPHA:313
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma, Scaling... OMIM:113800
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ... ORPHA:48104
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy... ORPHA:38
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis ORPHA:79503
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Punctate keratitis, Scarri... OMIM:602540
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Omenn Syndrome
Pneumonia, Thickened skin, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocyto... ORPHA:39041
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin ORPHA:31112
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin, Ichthyosis ORPHA:2271
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Petechiae, Lymphadenopathy, Thrombocytopenia, Increased cir... ORPHA:83313
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Splenomegaly, Crusting erythematous der... ORPHA:742
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Increased circulating IgE level, Hypereosinophilia, Leukocytosis... ORPHA:2902
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Anemia, ... OMIM:612840
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Anemia, Pruritus, Hy... ORPHA:166113
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Skin ulcer, Eczematoid dermatitis, Splenomegaly, Petechia... OMIM:170100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Epidermal acanthosis, Failure to thrive OMIM:616069
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutro... OMIM:616395
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, In... OMIM:615508
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Weigh... ORPHA:86884
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Perioral erythema, Perianal erythema, Failure to thrive OMIM:614328
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Dry skin, Leukopenia, Thrombocytopeni... OMIM:620184
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia... ORPHA:293173
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... ORPHA:3243
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 53
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr... OMIM:617585
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... OMIM:275350
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Scarring alopecia of scalp, Follicul... OMIM:308800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski... ORPHA:100976
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:607936
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Epidermal acanthosis, Scaling skin ORPHA:90368
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Purpura, Incre... ORPHA:540
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Autoimmunity, Recurrent infect... OMIM:137100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Increased body weight, Increased body mass index, Anemia, Growth delay OMIM:614450
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Delayed puberty, Follicular hyperkeratosis, Overweight, Mildly elevated creatine kinase ORPHA:486815
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Thrombocytopenia 1
Decreased mean platelet volume, Bruising susceptibility, Increased circulating IgE level, Petechi... OMIM:313900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis ORPHA:2269
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Lichenoid skin lesion, ... ORPHA:87503
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Growth delay, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous... OMIM:614457
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Facial erythema, Increased circulating IgG level ORPHA:284227
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Impaired T cell function, Failure to thrive, Dry skin, Decreased testicular si... OMIM:201100
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Cold urticaria, Vascular skin abnormality, Paraproteinem... ORPHA:91139
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Ichthyosis, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased ... OMIM:616943
Leopard Syndrome 3
Growth delay, Multiple lentigines, Dry skin, Few cafe-au-lait spots, Short stature, Hyperkeratosi... OMIM:613707
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers ORPHA:36386
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Throm... OMIM:619644
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm... ORPHA:79145
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Skin plaque, Papule, Hyperkeratosis OMIM:247100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Poor wound healing, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoi... OMIM:620565
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Beta-Thalassemia
Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Thrombocytop... ORPHA:848
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Atopic dermatitis, Thickened skin, Failure to thrive, Eczem... OMIM:620331
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Failure to thrive, Keratitis, Ichthyosis, Erythroderma, Short stature, ... ORPHA:79394
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Lymphopenia, Morphea, Neutropenia, Elevated circulating C-reactive protein concentration OMIM:620443
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Papa Syndrome
Skin ulcer, Crohn's disease, Increased inflammatory response, Increased circulating antibody leve... ORPHA:69126
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer ORPHA:493
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Sca... OMIM:616295
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Dry skin, Intrauterine growth re... OMIM:617827
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Psoriasiform lesion, Esophagitis, Chronic otitis media,... OMIM:618131
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutrophilic Dermatosis, Acute Febrile
Erythema, Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Elevated... OMIM:608068
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM leve... ORPHA:37748
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hypergranulosis OMIM:615022
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... OMIM:601495
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato... OMIM:226990
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angioedema, Telan... ORPHA:79455
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... OMIM:254450
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate... ORPHA:284426
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurrent lower res... OMIM:613179
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Takayasu Arteritis
Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Ar... ORPHA:3287
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Dry skin, Skin rash, Ichthyosis, Acanthos... ORPHA:634
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutroph... OMIM:614204
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:607602
Ollier Disease
Anemia, Subcutaneous nodule, Skin ulcer ORPHA:296
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Skin ulcer, Hepatitis, Skin rash, Pruritus, Cheilitis, Hyperkeratosis ORPHA:1334
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Pruritus, Blepharitis OMIM:618535
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Ski... ORPHA:2314
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Schopf-Schulz-Passarge Syndrome
Dry skin, Palmoplantar keratoderma, Hyperkeratosis OMIM:224750
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosin... ORPHA:139402
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Pili Torti-Onychodysplasia Syndrome
Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Generalized keratosis follicu... ORPHA:2890
C1Q Deficiency 2
Facial erythema, Decreased circulating C1q concentration, Vasculitis in the skin, Anemia, Reduced... OMIM:620321
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent s... ORPHA:90186
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... OMIM:242300
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci... ORPHA:29073
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Generalized ichthyosis, Pruritus OMIM:608649
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Thyrotropin-Releasing Hormone Deficiency
Short stature, Dry skin OMIM:275120
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T... OMIM:618213
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Acquired Purpura Fulminans
Macular purpura, Skin rash, Macule, Thrombocytopenia, Pyoderma gangrenosum, Elevated circulating ... ORPHA:49566
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Erythematous plaque, Splenomegaly, Skin rash, Parakera... ORPHA:398124
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice... OMIM:620376
Acrogeria
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short stature, Thin skin ORPHA:2500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin, Cutaneous photosensitivity, Urticaria ORPHA:1184
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin, Abnormal lymph node morphology ORPHA:33111
Dominant Beta-Thalassemia
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Fa... ORPHA:231226
Moynahan Syndrome
Short stature, Cachexia, Hyperkeratosis ORPHA:2574
Idiopathic Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Scaling skin ORPHA:90158
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Ectodermal... OMIM:300291
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Microcytic anemia, Cirrhosis, Cutaneous photosensitivity ORPHA:79278
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Portal hyp... OMIM:613385
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion, Parakeratosis, Pruritus ORPHA:83453
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Chronic Granulomatous Disease
Skin ulcer, Eczematoid dermatitis, Splenomegaly, Otitis media, Macule, Sinusitis, Inflammatory ab... ORPHA:379
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... ORPHA:228119
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Weight loss, Pancreatitis, Macule, Thrombocytopenia, Neutropenia, Anemia, C... ORPHA:537
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Dry skin, Ichthyosis, Hyperkeratosis OMIM:610768
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Hyperkeratosis, Short stature, Cafe-au-lait spot OMIM:618625
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec... OMIM:612301
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Centrifugal Lipodystrophy
Erythema, Lymphadenitis, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Sc... ORPHA:90156
Phenylketonuria
Dry skin, Eczematoid dermatitis, Scleroderma OMIM:261600
Polyarteritis Nodosa
Erythema, Skin ulcer, Weight loss, Elevated circulating C-reactive protein concentration, Subcuta... ORPHA:767
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrok... ORPHA:218
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Riddle Syndrome
Decreased circulating IgG level, Erythema, Decreased circulating IgA level, Telangiectasia, Conju... ORPHA:420741
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop... OMIM:301080
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Beta-Thalassemia Intermedia
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Dry skin, Obesity, Acanthosis nigricans, Short stature ORPHA:3085
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki... ORPHA:158061
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t... OMIM:620040
Uv-Sensitive Syndrome 3
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:614640
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Gener... ORPHA:829
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis OMIM:613943
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity OMIM:219095
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythem... OMIM:615688
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infilt... OMIM:618531
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation OMIM:600546
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Beta-Thalassemia Major
Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Fa... ORPHA:231214
Lichen Planus Pemphigoides
Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Hepatomegal... ORPHA:79330
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Livedo reticularis, Scaling skin, Thrombocytopenia, Anemia... OMIM:620370
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Splenomegaly, Sclerosing cholangitis, Ichthyosis, Parakeratosis, Pruritus OMIM:607626
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Keratoconjunctivitis sicca, Hyperkeratosis, Skin ulcer ORPHA:1806
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Ichthyosis, Erythroderma, Short sta... OMIM:242150
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Uv-Sensitive Syndrome 1
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:600630
Proteus Syndrome
Nevus, Epidermal nevus, Hyperkeratosis, Splenomegaly OMIM:176920
Livedoid Vasculopathy
Erythematous papule, Polycythemia, Skin ulcer, Macular purpura, Atrophic scars, Pancytopenia, Leu... ORPHA:542643
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Recurrent respiratory infections, Systemic lupus erythematosus, Lymphopenia, Autoim... ORPHA:760
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Hydroa Vacciniforme
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme ORPHA:330058
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase... ORPHA:449432
Poikiloderma With Neutropenia
Recurrent pneumonia, Palmoplantar keratoderma, Growth delay, Recurrent otitis media, Dermal atrop... OMIM:604173
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Generalized Pustular Psoriasis
Hypoalbuminemia, Cheilitis, Lymphopenia, Obesity, Leukocytosis, Erythematous plaque, Palmoplantar... ORPHA:247353
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Dry skin, Keratoconjunctivitis sicca, Erythroderma, Short statur... OMIM:601675
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Rhizomelic arm shortening, Lymphopenia, Leuko... ORPHA:508542
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea... ORPHA:90363
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Increased circulating IgE level, Failure to thrive in infancy, Urticaria, Autoimmune h... ORPHA:37042
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Pressure-Induced Localized Lipoatrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Erythroderma, Congenital ichthyosiform erythroderma ORPHA:457
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hemolytic anemia OMIM:177000
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity, Cryptorchidism ORPHA:3409
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Increased proportion of exhausted T cells OMIM:618307
Erythema Of Acral Regions
Erythema OMIM:227000
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis ORPHA:98827
Hereditary Elliptocytosis
Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte morphology, Congen... ORPHA:288
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Skin ulcer, Splenomegaly ORPHA:834
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating a... ORPHA:2137
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin OMIM:218650
Bullous Impetigo
Erythema, Abnormality of the lymphatic system ORPHA:36237
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin ORPHA:455
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Skin fissure ORPHA:659
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly OMIM:605309
Keratolytic Winter Erythema
Erythema OMIM:148370
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Biliary cirrhosis, Abnormality of body w... ORPHA:2298
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto... OMIM:615952
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Atypical scarring of skin, Keloids, Erythematous papule, Localized skin le... ORPHA:79410
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia, Postnatal growth retardation, Severe short stature OMIM:618728
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis, A... ORPHA:163525
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flushing ORPHA:79457
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Erythema Nodosum, Familial
Erythema OMIM:132990
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Eczematoid dermatitis, Dry skin, Keratoconjunctivitis sicca, Sinusitis, Inflam... ORPHA:238468
Chronic Actinic Dermatitis
Allergic rhinitis, Erythematous papule, Eczematoid dermatitis, Hypopigmented skin patches, Erythr... ORPHA:330064
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin... ORPHA:499009
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis OMIM:617525
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Lig4 Syndrome
Erythema, Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Telangiectasia of the skin,... ORPHA:99812
Dermatitis Herpetiformis
Microcytic anemia, Erythema, Skin vesicle, Urticaria ORPHA:1656
Dyskeratosis Congenita
Bone marrow hypocellularity, Palmoplantar keratoderma, Hypopigmented skin patches, Skin ulcer, Pe... ORPHA:1775
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophi... OMIM:612852
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hypopigmented m... OMIM:615522
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease... ORPHA:125
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Failure to thrive, Dry skin, Pustule, Weight loss, Short stature, Conjuncti... ORPHA:37
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Dry skin, Ichthyosis, Short stature, Growth delay ORPHA:177
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Erythema Elevatum Diutinum
Skin vesicle, Vasculitis in the skin, Increased circulating antibody level ORPHA:90000
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Dermatographic urticaria, Hepatitis, Portal hypertension, Sp... ORPHA:186
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Reduced natural killer cell activity, Pancy... OMIM:616050
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 ... OMIM:256040
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Cutaneous photosensitivity OMIM:615715
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Skin plaque, Hyperker... ORPHA:79151
Subcorneal Pustular Dermatosis
Erythema, Increased circulating antibody level ORPHA:48377
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Keratoderma Hereditarium Mutilans
Papule, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Skin ulcer, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal... OMIM:116920
Immunodeficiency 40
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... OMIM:616433
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Milia, Skin erosion, Epidermal hyperkeratosis OMIM:620483
Chromomycosis
Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar... ORPHA:182
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u... OMIM:233600
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Acquired Partial Lipodystrophy
Autoimmunity, Lymphocytosis ORPHA:79087
Spinocerebellar Ataxia Type 34
Dry skin, Papule, Macule ORPHA:1955
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyperkeratosi... ORPHA:79397
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Abnormal lymp... OMIM:615468
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunoneurologic Disorder, X-Linked
Small for gestational age, Decreased circulating IgG2 level, Neonatal death OMIM:300076
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... OMIM:243150
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis, Decreased retinol-binding protein level OMIM:615147
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Pemphigus Vulgaris
Atypical scarring of skin, Urticarial plaque, Weight loss, Acantholysis, Recurrent cutaneous absc... ORPHA:704
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Flynn-Aird Syndrome
Dermal atrophy, Hyperkeratosis OMIM:136300
Porphyria Cutanea Tarda
Periportal fibrosis, Portal inflammation, Cutaneous abscess, Poor wound healing, Hepatocellular c... ORPHA:101330
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Bloom Syndrome
Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Decreas... OMIM:210900
Generalized Eruptive Histiocytosis
Erythematous papule, Hypereosinophilia, Leukemia, Pruritus, Maculopapular exanthema, Histiocytosi... ORPHA:157991
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid dermatitis, Gro... OMIM:615895
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Skin ras... ORPHA:221
Incontinentia Pigmenti
Erythema, Keratitis, Hypopigmented skin patches, Skin ulcer, Skin rash, Infectious encephalitis, ... ORPHA:464
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Severe postnatal growth retardation OMIM:275100
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lymphocyte morpholo... ORPHA:47612
Graft Versus Host Disease
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Scaling skin, Chronic h... ORPHA:39812
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Dry skin, Abnormality of the liver, Sple... ORPHA:84064
Primary Sjögren Syndrome
Lymphopenia, Dry skin, Cutis marmorata, Decreased proportion of CD4-positive helper T cells, Chro... ORPHA:289390
Sydenham Chorea
Erythema ORPHA:306731
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Immunodeficiency 61
Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating... OMIM:300310
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
Buerger Disease
Skin ulcer ORPHA:36258
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Flynn-Aird Syndrome
Dermal atrophy, Cachexia, Skin ulcer ORPHA:2047
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Syndromic Recessive X-Linked Ichthyosis
Short stature, Acute leukemia, Hyperkeratosis, Ichthyosis ORPHA:281090
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... OMIM:609628
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Impaired platelet aggregatio... OMIM:187800
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Microangiopathic hemolytic anemia, Abnormal circulating cytokine concentration, Coomb... ORPHA:464343
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Eryth... OMIM:612541
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Dry skin, Pancytopenia, ... OMIM:613990
Werner Syndrome
Skin ulcer, Slender build, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Short stature... ORPHA:902
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Reynolds Syndrome
Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Pruritus, ... ORPHA:779
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dry skin, Osteomyelitis, Nevus spilus, Growth delay, Chronic otitis media OMIM:618010
Keratolytic Winter Erythema
Erythema ORPHA:50943
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen... OMIM:618398
Familial Melanoma
Dry skin, Neoplasm of the pancreas, Abnormality of the lymphatic system ORPHA:618
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Dry skin, Obesity ORPHA:1035
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Cryoglobulinemic Vasculitis
Skin ulcer, Petechiae, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Purpura, Viral hepatitis ORPHA:91138
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib... ORPHA:158048
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Snakebite Envenomation
Erythema, Angioedema, Hypopituitarism, Ecchymosis, Thrombocytopenia ORPHA:449285
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Erythema, Weight loss, Splenomegaly ORPHA:33577
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Palmoplantar keratoderma, Scaling skin, Multinodular goiter OMIM:618373
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Darier-White Disease
Palmar pits, Plantar pits, Subungual hyperkeratotic fragments, Acrokeratosis, Pruritus, Acantholy... OMIM:124200
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Hyperkeratosis OMIM:615632
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous... OMIM:173200
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Lipoid Proteinosis
Acne, Thickened skin, Pustule, Subcutaneous nodule, Papule, Hyperkeratosis ORPHA:530
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Hereditary Acrokeratotic Poikiloderma
Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Ichthyosis, Pustule, Ker... ORPHA:2907
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Hypopigmented skin patches ORPHA:220402
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Dry skin, Shagreen patch ORPHA:2617
Ddost-Cdg
Short stature, Dry skin, Failure to thrive ORPHA:300536
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas ORPHA:935
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:300179
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A... ORPHA:79078
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Subcutaneous nodule, Hyperkeratosis OMIM:618339
Immunodeficiency 88
Eosinophilia OMIM:619630
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus eryt... OMIM:613652
Brooke-Spiegler Syndrome
Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive, Congenital exfoliative erythroderma OMIM:227090
Postinfectious Vasculitis
Abnormality of humoral immunity, Palpable purpura, Cutis marmorata, Increased circulating antibod... ORPHA:48435
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis ORPHA:79303
Mhc Class I Deficiency 1
Chronic otitis media, Bronchiectasis, Skin ulcer, Chronic sinusitis OMIM:604571
Oslam Syndrome
Short stature, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Granulomatosis With Polyangiitis
Keratitis, Skin ulcer, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chro... OMIM:608710
Microscopic Polyangiitis
Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni... ORPHA:727
Noonan Syndrome 8
Eczematoid dermatitis, Failure to thrive, Large for gestational age, Palmoplantar cutis laxa, Sho... OMIM:615355
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Dry skin, Acanthosis nigricans, Small for gestational age OMIM:262190
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy, Keratitis ORPHA:90342
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis OMIM:613327
Warty Dyskeratoma
Localized skin lesion, Erythematous papule, Skin-colored papule, Acrokeratosis, Epidermal thicken... ORPHA:69745
Brucellosis
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality ... ORPHA:1304
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Acute pancreatitis, Failure to thrive, Dry skin, Hepatosplenomegaly, Intrauterin... OMIM:619487
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Wells Syndrome
Skin vesicle, Eosinophilia ORPHA:901
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Growth delay, Hypergra... OMIM:242100
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... OMIM:152700
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Aplasia cutis congenita of scalp, Dry skin OMIM:600906
Dermoodontodysplasia
Dry skin, Melanocytic nevus, Thin skin ORPHA:1660
Leopard Syndrome 2
Multiple lentigines, Dry skin, Cafe-au-lait spot, Short stature OMIM:611554
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice, A... OMIM:225750
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Absc... ORPHA:400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Failure to thrive, Generalized abnormality of skin, Fragile skin, Anemia, Decreased cir... ORPHA:79396
Pearson Marrow-Pancreas Syndrome
Erythema, Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopeni... OMIM:557000
Tangier Disease
Hepatomegaly, Dry skin, Splenomegaly OMIM:205400
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... ORPHA:90060
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr... OMIM:619208
Hennekam-Beemer Syndrome
Mastocytosis, Erythema, Failure to thrive, Skin vesicle, Telangiectasia of the skin, Urticaria ORPHA:2135
Mycosis Fungoides
Erythema, Lymphadenopathy OMIM:254400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts OMIM:617425
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Thymoma
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... ORPHA:99867
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy... ORPHA:398063
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker... OMIM:257980
Familial Multiple Nevi Flammei
Papule, Skin ulcer, Hypermelanotic macule, Nevus flammeus ORPHA:624
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dry skin, Milia, Palmoplantar hyperkeratosis, Punctate palmoplantar hyp... ORPHA:69087
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Increased circulating IgG4 level, Abnormal mesent... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly,... OMIM:617591
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Keratitis, Skin ulcer, Osteoarthritis ORPHA:1657
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Lupus anticoagulant, Antinuclear ... ORPHA:231111
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Skin rash, Elevated circulating creatine kinase concentration, My... ORPHA:93672
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Mal De Meleda
Perioral erythema OMIM:248300
Hypotrichosis With Juvenile Macular Degeneration
Short stature, Melanocytic nevus, Hyperkeratosis ORPHA:1573
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis, Failure to thrive OMIM:121270
Xeroderma Pigmentosum
Erythema, Thickened skin, Keratitis, Hypopigmented skin patches, Failure to thrive, Dry skin, Der... ORPHA:910
Noonan Syndrome 5
Nevus, Multiple lentigines, Dry skin, Large for gestational age, Short stature, Cafe-au-lait spot OMIM:611553
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic fibrosis, Decreased circulating IgA level, Hepatic steat... OMIM:212065
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Blau Syndrome
Posterior uveitis, Erythema, Keratitis, Skin ulcer, Dry skin, Splenomegaly, Skin rash, Ichthyosis... ORPHA:90340
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... OMIM:617052
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Short stature, Dry skin, Acanthosis nigricans OMIM:268020
X-Linked Dominant Chondrodysplasia Punctata
Erythematous plaque, Ichthyosis, Severe postnatal growth retardation, Scarring alopecia of scalp,... ORPHA:35173
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Abnormal mast cell morphology ORPHA:398189
Adiposis Dolorosa
Dry skin, Obesity, Arthritis, Subcutaneous nodule, Recurrent skin infections ORPHA:36397
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin, Palmoplantar erythema, Pa... OMIM:605676
Kid Syndrome
Posterior blepharitis, Postnatal growth retardation, Psoriasiform dermatitis, Follicular hyperker... ORPHA:477
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Recurrent pneumonia, Inflammation of the large intestine, Cervica... OMIM:617718
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Thin skin OMIM:617364
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Dry skin, Macrocytic anemia, ... ORPHA:199299
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Dry skin, Recurrent otitis media, Postnatal growth retardation, Thr... ORPHA:261323
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Abnormal circulating thyroglobulin concentration ORPHA:95715
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Decreased proportion of ... ORPHA:66628
Infantile Systemic Hyalinosis
Severe short stature, Thickened skin, Skin ulcer, Failure to thrive, Subcutaneous nodule, Growth ... ORPHA:2176
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Obesity, Eczematoid dermatitis OMIM:620191
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Pachyonychia Congenita
Cutaneous cyst, Palmoplantar keratoderma, Failure to thrive, Epidermoid cyst, Linear arrays of ma... ORPHA:2309
Granulomatosis With Polyangiitis
Skin ulcer, Otitis media, Skin rash, Increased inflammatory response, Inflammatory abnormality of... ORPHA:900
Thyroid Dyshormonogenesis 1
Dry skin, Growth delay OMIM:274400
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Osteopetrosis, Autosomal Recessive 5
Growth delay, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Intrauterine growth retardation, Splenomegaly, Petechiae, Decreased body weig... OMIM:608013
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Decreased proportion of ... ORPHA:179494
Ramon Syndrome
Hyperkeratosis, Failure to thrive ORPHA:3019
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma OMIM:613576
Elastoderma
Erysipelas, Eczematoid dermatitis, Premature skin wrinkling, Cutis laxa, Skin nodule, Papule ORPHA:228240
X-Linked Sideroblastic Anemia
Anemia, Pallor, Splenomegaly ORPHA:75563
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... OMIM:617237
Distal Duplication 6P
Short stature, Dry skin, Intrauterine growth retardation, Sacral dimple ORPHA:1745
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin, Ectodermal dysplasia OMIM:129490
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Kikuchi-Fujimoto Disease
Erythema, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of pa... ORPHA:50918
Overlap Myositis
Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Leu... ORPHA:206572
Uremic Pruritus
Inflammatory abnormality of the skin, Dry skin, Abnormal circulating cytokine concentration, Recu... ORPHA:94059
Aggressive Systemic Mastocytosis
Urticaria, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of... ORPHA:98850
Familial Cold Autoinflammatory Syndrome 3
Erythema, Dermatographic urticaria, Cold urticaria, Angioedema OMIM:614468
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir... ORPHA:90003
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... OMIM:148700
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Lym... ORPHA:85414
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Intrauterine growth retardation, Cachexia, Aplasia cutis congenita, ... ORPHA:217346
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Recurrent skin infections, Pustule, Seborrheic dermatitis, Multiple c... ORPHA:302
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607143
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Bacterial Toxic-Shock Syndrome
Hepatitis, Abscess, Ecchymosis, Increased circulating myelocyte count, Peritonitis, Thrombocytope... ORPHA:36234
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Dry skin, Large for gestational age, Goiter ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Dry skin, Spotty hypopigmentation OMIM:300860
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Hyperkeratosis, Failure to thrive OMIM:301108
Rat-Bite Fever
Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Scaling skin, Anemia ORPHA:31205
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... ORPHA:1830
Fucosidosis
Failure to thrive, Bruising susceptibility, Dry skin, Angiokeratoma, Petechiae, Splenomegaly, Hep... OMIM:230000
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:100026
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Failure to thrive in infancy, Dry skin, Multiple lentigines, Redundant ... ORPHA:1340
Arthrogryposis And Ectodermal Dysplasia
Short stature, Dry skin, Atypical scarring of skin, Hyperkeratosis OMIM:601701
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Pachydermoperiostosis
Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Seb... ORPHA:2796
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
C3 Glomerulopathy
Paraproteinemia, Elevated circulating creatinine concentration, Autoimmunity, Membranoproliferati... ORPHA:329918
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity, Decreased body weight OMIM:278760
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Dry skin, Elevated circulating ... OMIM:618419
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Bruising susceptibility, Hepatosplenomegaly, Pancytopenia, Hy... ORPHA:77259
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Stevens-Johnson Syndrome
Erythema, Abnormality of neutrophils, Weight loss, Pancreatitis, Macule, Thrombocytopenia, Anemia... ORPHA:36426
Singleton-Merten Syndrome 2
Short stature, Psoriasiform lesion, Hyperkeratosis OMIM:616298
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Hyperkeratosis, Ichthyosis ORPHA:171851
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Leprosy
Uveitis, Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Penetrating foot ulc... ORPHA:548
Familial Cold Urticaria
Erythema, Urticaria ORPHA:47045
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Chromosome 19Q13.11 Deletion Syndrome, Distal
Aplasia cutis congenita of scalp, Failure to thrive, Dry skin, Intrauterine growth retardation, P... OMIM:613026
Refsum Disease
Dry skin, Splenomegaly ORPHA:773
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... OMIM:614594
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Eczematoid dermatitis, Panhypogammaglobuline... ORPHA:33364
Chime Syndrome
Erythema, Acute leukemia, Skin ulcer, Ichthyosis, Hyperkeratosis ORPHA:3474
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Cardiofaciocutaneous Syndrome 3
Short stature, Hyperkeratosis, Failure to thrive OMIM:615279
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Anh... OMIM:612132
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Decrea... OMIM:226300
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level ORPHA:1296
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypopigmented skin patches, Dry skin, Intrauterine growth retarda... ORPHA:2637
Rift Valley Fever
Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula... ORPHA:319251
Bullous Pemphigoid
Erythema, Weight loss, Urticaria ORPHA:703
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... OMIM:223370
Calciphylaxis
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Scaling skin ORPHA:79323
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibility, Petec... OMIM:616216
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Petechiae, Cryptorchidism, Decreased body wei... OMIM:617053
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Eosino... ORPHA:449563
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Dry skin, Prolonged neonatal jaundice, Overweight,... ORPHA:99832
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Lymphadenopathy,... ORPHA:3226
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia ORPHA:101028
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Cushing Disease
Acne, Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Ecchymosis, Increased body weight,... ORPHA:96253
Glutamine Deficiency, Congenital
Erythema, Neonatal death OMIM:610015
Malakoplakia
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Orchit... ORPHA:556
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Preauricular skin tag, Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Dr... OMIM:620654
Noonan Syndrome 14
Lymphopenia, Bruising susceptibility, Cryptorchidism, Dry skin OMIM:619745
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G... ORPHA:562639
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura ORPHA:3204
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Aplasia cutis congenita, Skin erosion, Neonatal death OMIM:609638
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Neutropenia, Anemia, Purpura OMIM:604250
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Systemic lupus erythematosus, Autoimmunity, Skin rash, Autoimmune hemo... ORPHA:90036
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Thickened skin, Skin ulcer, Erysipelas, Dry skin, Scaling skin, Leukemia, S... ORPHA:2526
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis, Skin ulcer... ORPHA:95455
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, ... ORPHA:169090
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an... ORPHA:51636
Systemic Sclerosis
Thickened skin, Digital ulcer, Osteomyelitis, Acral ulceration, Elevated circulating creatine kin... ORPHA:90291
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin OMIM:620502
Squalene Synthase Deficiency
Failure to thrive in infancy, Dry skin, Intrauterine growth retardation OMIM:618156
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Decreased pr... ORPHA:543
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections OMIM:618092
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer ORPHA:2591
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope... OMIM:619151
Agel Amyloidosis
Bruising susceptibility, Dry skin, Dermatological manifestations of systemic disorders, Abnormal ... ORPHA:85448
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Synovitis, Intermittent gen... OMIM:186580
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Mevalonic Aciduria
Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le... OMIM:610377
Costello Syndrome
Failure to thrive in infancy, Redundant skin, Lack of skin elasticity, Acanthosis nigricans, Shor... ORPHA:3071
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma OMIM:620415
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema ORPHA:100057
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Macule... ORPHA:761
Eec Syndrome
Keratitis, Nevus, Dry skin, Aplasia/Hypoplasia of the skin, Hypoplasia of the thymus, Short statu... ORPHA:1896
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Eczematoid dermatitis, Postnatal growth retardation, Intrauterine growth retar... ORPHA:83617
Vipoma
Erythema, Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentrat... ORPHA:97282
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia, Purpura OMIM:620296
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Foot osteomyelitis, Acral ulceration OMIM:162400
Kindler Epidermolysis Bullosa
Erythema, Atypical scarring of skin, Inflammation of the large intestine, Palmoplantar keratoderm... ORPHA:2908
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... ORPHA:189
Q Fever
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... ORPHA:781
Donohue Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Severe failure to thrive, Acanthos... OMIM:246200
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Skin ulcer, Infecti... ORPHA:68
Intellectual Developmental Disorder, Autosomal Dominant 54
Eczematoid dermatitis, Dry skin, Neutropenia, Short stature, Growth delay, Small for gestational age OMIM:617799
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Sheehan Syndrome
Secondary growth hormone deficiency, Dry skin, Breast hypoplasia, Panhypopituitarism, Pallor, Obe... ORPHA:91355
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Poor wound healing, Bruising susceptibility, Striae distensae, Obesity, Ecchym... OMIM:219090
Nephronophthisis 9
Anemia, Postnatal growth retardation OMIM:613824
Incontinentia Pigmenti
Erythema, Keratitis, Leukocytosis, Pallor, Eosinophilia, Short stature, Maculopapular exanthema, ... OMIM:308300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa, Scarring alopecia ... OMIM:617337
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus ORPHA:99811
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Spontaneous hematomas, Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Spl... ORPHA:99827
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Bachmann-Bupp Syndrome
Dry skin, Large for gestational age, Cryptorchidism OMIM:619075
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Stormorken Syndrome
Howell-Jolly bodies, Bruising susceptibility, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Igg4-Related Pachymeningitis
Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concen... ORPHA:449427
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... ORPHA:319218
Rapp-Hodgkin Syndrome
Palmoplantar keratoderma, Recurrent otitis media, Dry skin, Short stature, Thin skin OMIM:129400
Dubowitz Syndrome
Eczematoid dermatitis, Dry skin, Postnatal growth retardation, Intrauterine growth retardation, T... ORPHA:235
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Skin fissure, Sclerodactyly ORPHA:1010
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Acute Promyelocytic Leukemia
Bruising susceptibility, Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis, Weight lo... ORPHA:520
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Xfe Progeroid Syndrome
Hypoalbuminemia, Severe short stature, Failure to thrive, Dry skin, Dermal atrophy, Cachexia OMIM:610965
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ... OMIM:618278
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating antibody level ORPHA:723
Tangier Disease
Dry skin, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T... ORPHA:31150
Noonan Syndrome 13
Multiple lentigines, Dry skin, Recurrent otitis media, Cafe-au-lait spot OMIM:619087
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Dermal atrophy, Skin rash, Cachexia, Short stature ORPHA:220295
Peroxisome Biogenesis Disorder 14B
Dry skin, Hydrocele testis OMIM:614920
Ectodermal Dysplasia/Short Stature Syndrome
Short stature, Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly OMIM:248500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... OMIM:614742
Radio-Tartaglia Syndrome
Dry skin, Obesity, Striae distensae OMIM:619312
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Postnatal growth retardation, Intrauterine growth retardation, Dry skin, Congenital non... OMIM:620510
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Failure to thrive, Congenital ichthyosiform erythroderma, Postnatal growth retardatio... OMIM:302960
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia, Increase... ORPHA:297
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Hyperkeratosis ORPHA:1883
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr... ORPHA:88
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Eosinophilia, Peritoniti... ORPHA:228123
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Blepharitis, Congenital ichthyosiform erythroderma OMIM:602400
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Short stature, Extramedullary hematopoiesis OMIM:259730
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Plague
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... ORPHA:707
Giant Cell Arteritis
Weight loss, Skin ulcer, Arthritis, Pericarditis ORPHA:397
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Sialidosis Type 1
Short stature, Hyperkeratosis, Splenomegaly ORPHA:812
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Cutaneous abscess, Increased hepatic echogenicity, Increased circulating IgE level, Eos... OMIM:147060
Familial Tumoral Calcinosis
Hepatomegaly, Erythema, Splenomegaly ORPHA:53715
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Koolen-De Vries Syndrome
Eczematoid dermatitis, Failure to thrive, Dry skin, Intrauterine growth retardation, Short statur... OMIM:610443
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia ORPHA:163596
Hajdu-Cheney Syndrome
Thickened skin, Periodontitis, Skin ulcer, Failure to thrive, Dry skin, Splenomegaly, Delayed pub... ORPHA:955
Urachal Cyst
Erythema, Peritonitis, Leukocytosis, Abscess ORPHA:488
Myeloma, Multiple
Paraproteinemia OMIM:254500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erythema, Bruising susceptibility, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenop... ORPHA:32960
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Recurrent infections, Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Autoimmu... ORPHA:228426
Chronic Graft Versus Host Disease
Erythema, Thickened skin, Skin ulcer, Urinary bladder inflammation, Fasciitis, Pancytopenia, Morp... ORPHA:99921
Zika Virus Disease
Subcutaneous hemorrhage, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... OMIM:258900
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Failure to thrive, Premature graying of hair, Excessive wrinkled ski... ORPHA:3322
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive... OMIM:619573
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Alg11-Cdg
Dry skin, Failure to thrive ORPHA:280071
Hydroxykynureninuria
Dry skin, Stomatitis ORPHA:79155
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Thickened skin, Seborrheic dermatitis, Acne OMIM:614441
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Increased circulating ... ORPHA:2905
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Sclerosing cholangitis,... ORPHA:64744
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... ORPHA:79329
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, ... ORPHA:2072
Angioedema, Hereditary, 1
Erythema, Angioedema, Decreased circulating C1-esterase inhibitor concentration, Decreased circul... OMIM:106100
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Dry skin, Weight loss, Delayed puberty, Increased circulati... ORPHA:95409
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Splenomegaly,... OMIM:153670
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Arthritis ORPHA:220393
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma OMIM:129200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Pancytopenia OMIM:618321
Adult Syndrome
Dry skin, Melanocytic nevus, Skin ulcer, Thin skin ORPHA:978
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Follicu... ORPHA:158668
Jung Syndrome
Dry skin ORPHA:2321
Fountain Syndrome
Erythema, Cutis marmorata ORPHA:3219
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Lymphatic Malformation 12
Hyperkeratosis, Neonatal death OMIM:620014
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
9P13 Microdeletion Syndrome
Recurrent otitis media, Dry skin, Cafe-au-lait spot, Short stature ORPHA:324313
Mycetoma
Cutaneous cyst, Osteomyelitis, Cobblestone-like hyperkeratosis, Subcutaneous nodule, Recurrent ba... ORPHA:2583
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Subcu... ORPHA:97280
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Keratitis, Eczematoid dermatitis, Growth delay... OMIM:308205
Tooth Agenesis, Selective, 4
Dry skin, Palmar hyperkeratosis, Thin skin OMIM:150400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Kanzaki Disease
Dry skin, Hyperkeratosis, Petechiae OMIM:609242
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Failure to thrive, Reduced natural killer cell activity, Leukopenia, Hepatosple... OMIM:603553
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia OMIM:617341
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin OMIM:619306
Septo-Optic Dysplasia Spectrum
Short stature, Dry skin, Obesity ORPHA:3157
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Hyperkeratosis ORPHA:163966
Preeclampsia
Elevated circulating creatinine concentration, Autoimmunity, Polycystic ovaries, Helicobacter pyl... ORPHA:275555
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Koolen-De Vries Syndrome
Short stature, Dry skin, Ichthyosis ORPHA:96169
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reac... ORPHA:79099
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma ORPHA:2698
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Increased circulating prolactin concentration, Goiter, Dry skin, Prolonged neo... ORPHA:90674
Monosomy 18Q
Decreased circulating IgA level, Patent ductus arteriosus ORPHA:1600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Patent ductus arteriosus OMIM:618223
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Splenomegaly, Ichthyosis, Seborrheic dermatitis, Truncal obesity, Thrombocy... OMIM:301072
Addison Disease
Normocytic anemia, Failure to thrive, Dry skin, Thiamine-responsive megaloblastic anemia, Hashimo... ORPHA:85138
Hidrotic Ectodermal Dysplasia, Halal Type
Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Simpson-Golabi-Behmel Syndrome
Polysplenia, Supernumerary nipple, Increased circulating IgE level, Splenomegaly, Pancreatic isle... ORPHA:373
Rabson-Mendenhall Syndrome
Dry skin, Intrauterine growth retardation, Lichenoid skin lesion, Severe postnatal growth retarda... ORPHA:769
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Pallor, Petechiae,... ORPHA:90051
Caffey Disease
Increased circulating antibody level ORPHA:1310
Melas
Erythema, Failure to thrive, Hypoparathyroidism, Recurrent pancreatitis, Anemia ORPHA:550
Rothmund-Thomson Syndrome Type 2
Erythema, Aplastic anemia, Cryptorchidism, Anemia, Facial erythema, Neutropenia, Leukemia, Small ... ORPHA:221016
Den Hoed-De Boer-Voisin Syndrome
Dry skin, Obesity, Intrauterine growth retardation, Decreased body weight, Overweight OMIM:619229
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Nevus, Congenital ichthyosiform erythroderma, Parakeratosis, Epidermal ... OMIM:308050
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Acral ulceration OMIM:256840
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Moderate postnatal growth retardation, Intrauterine growth retardation, Ich... ORPHA:1005
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Erythema, Failure to thrive, Cholestasis, Dry skin, Hepatosplenomegaly, De... OMIM:619503
Familial Mediterranean Fever
Erythema, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy ORPHA:342
Al Amyloidosis
Howell-Jolly bodies, Bruising susceptibility, Abnormality of the liver, Increased circulating ant... ORPHA:85443
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Patent ductus arteriosus ORPHA:369837
Hennekam Syndrome
Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia, Decreased c... ORPHA:2136
Cockayne Syndrome B
Failure to thrive, Progeroid facial appearance, Dry skin, Splenomegaly, Cryptorchidism, Reduced s... OMIM:133540
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Kawasaki Disease
Hepatitis, Cervical lymphadenopathy, Thrombocytosis, Leukocytosis, Cholecystitis, Palmoplantar er... ORPHA:2331
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Psoriasiform dermatitis, Scaling skin ORPHA:294023
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropeni... OMIM:617303
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteomyelitis, Acral ulceration, Osteoarthritis OMIM:608654
Adult Syndrome
Eczematoid dermatitis, Dry skin, Dermal atrophy, Conjunctivitis, Thin skin OMIM:103285
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int... ORPHA:391487
Parkes Weber Syndrome
Abnormal lymphatic vessel morphology, Prominent superficial blood vessels, Skin ulcer, Scaling skin ORPHA:90307
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin, Cryptorchidism OMIM:619244
Multiple Endocrine Neoplasia Type 4
Erythema, Thymoma, Hyperparathyroidism, Pituitary adenoma, Parathyroid carcinoma, Pituitary prola... ORPHA:276152
Atypical Werner Syndrome
Skin ulcer, Failure to thrive, Decreased body weight, Lack of skin elasticity, Aplasia/Hypoplasia... ORPHA:79474
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Nevus, Hyperparakeratosis ORPHA:276280
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Dry s... ORPHA:51
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Periodontitis, Skin ulcer, Failure to thrive, Delayed puberty, Thrombo... ORPHA:534
Monilethrix
Follicular hyperkeratosis ORPHA:573
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Ecchymosis, Increased body weight,... ORPHA:99889
Sunct Syndrome
Facial erythema, Flushing ORPHA:57145
Fetal Cytomegalovirus Syndrome
Hepatitis, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Ullrich Congenital Muscular Dystrophy 1A
Slender build, Follicular hyperkeratosis, Mildly elevated creatine kinase, Failure to thrive OMIM:254090
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Cockayne Syndrome A
Failure to thrive, Progeroid facial appearance, Dry skin, Cryptorchidism, Splenomegaly, Thymic ho... OMIM:216400
Trichinellosis
Increased circulating IgE level ORPHA:863
Erythroderma Desquamativum
Seborrheic dermatitis, Failure to thrive ORPHA:314
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Dry skin, Large for gestational age, Ichthyosis, Palmoplantar hyperkeratosis, Acute lymphoblastic... OMIM:280000
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... OMIM:158310
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo... ORPHA:1855
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Autoimmunity, Episcleritis, Splenomegaly, Skin rash, Inflammatory abnormality of ... ORPHA:36412
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Cryptorchidism, Telangiectasia, Anemia, Facial erythema, Neutropenia, Leukemia, ... ORPHA:221008
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1, Progeroid facial appearance, Panhypopituitarism, Decreased te... OMIM:300953
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron co... ORPHA:300298
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetany, Autoimmunity, Autoimmu... ORPHA:36913
Monosomy 22
Thickened skin, Hepatosplenomegaly, Scleroderma, Aplasia of the thymus, Seborrheic dermatitis, Hy... ORPHA:96123
Zollinger-Ellison Syndrome
Erythema, Hyperparathyroidism, Pituitary adenoma, Pituitary prolactin cell adenoma, Pituitary gro... ORPHA:913
X-Linked Intellectual Disability, Nascimento Type
Dry skin, Preauricular pit, Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Weigh... ORPHA:29207
Hermansky-Pudlak Syndrome
Thickened skin, Melanocytic nevus, Weight loss, Neutropenia, Hyperkeratosis ORPHA:79430
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Leukopenia, Autoimmunity, Splenomegaly, Skin rash, Myositis, Gastrit... ORPHA:809
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Cryptorchidism, Supernumerary nipple ORPHA:1812
Aicardi-Goutieres Syndrome 7
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Increased circulating antibody level, H... OMIM:615846
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Failure to thrive, Multiple lentigines, Splenomegaly, Ichthyosis, Short statur... OMIM:115150
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, H... OMIM:214500
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts OMIM:618999
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin, Absent nipple, Hypohidrotic ectodermal dysplasia OMIM:614940
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo... ORPHA:98870
Hallermann-Streiff Syndrome
Recurrent pneumonia, Dry skin, Dermal atrophy, Proportionate short stature, Small for gestational... OMIM:234100
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Nestor-Guillermo Progeria Syndrome
Short stature, Dry skin, Growth delay, Failure to thrive OMIM:614008
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Periorbital wrinkles, Dry skin, Hypoplastic nipples, Ectodermal dysplasia OMIM:614941
Biotinidase Deficiency
Skin rash, Splenomegaly, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections OMIM:253260
Mednik Syndrome
Erythema, Hepatic fibrosis, Cholestasis, Neonatal death, Cirrhosis OMIM:609313
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Abnormality of neutrophils, Abnormal granulocyte morphology, ... ORPHA:1451
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol... OMIM:601214
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Chronic ly... ORPHA:90033
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema OMIM:612843
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... ORPHA:699
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Ichthyosis, Keratoconjunctivitis sicca, Hyperkeratosis, Recurrent bacterial skin infec... OMIM:148210
Bethlem Muscular Dystrophy
Cigarette-paper scars, Hyperkeratosis, Elevated circulating creatine kinase concentration ORPHA:610
Viss Syndrome
Failure to thrive, Bruising susceptibility, Increased circulating IgE level, Decreased circulatin... OMIM:619472
Premature Aging Syndrome, Penttinen Type
Thickened skin, Keloids, Failure to thrive, Dermal atrophy, Palmoplantar hyperkeratosis, Skin nod... OMIM:601812
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Eczematoid dermatitis, Multiple lentigines, Large for gestational age, Ichthyo... OMIM:607721
Restrictive Dermopathy 1
Thin skin, Neonatal death, Scaling skin, Stillbirth, Epidermal hyperkeratosis OMIM:275210
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis OMIM:137940
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Cryptorchidism, Anemia, Retic... OMIM:227645
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Glomerulonephritis, Hyperkeratos... ORPHA:2035
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Cranioectodermal Dysplasia 3
Short stature, Dry skin, Rhizomelia, Cutis laxa OMIM:614099
Restrictive Dermopathy
Webbed neck, Generalized hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat glands, Scaling... ORPHA:1662
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Anemia, ... OMIM:274000
Cold Agglutinin Disease
Autoimmunity, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov... OMIM:613070
Antisynthetase Syndrome
Autoimmunity, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconj... ORPHA:81
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas... ORPHA:91500
Noonan Syndrome 2
Nevus, Hypermelanotic macule, Melanocytic nevus, Redundant neck skin, Palmoplantar cutis laxa, Sh... OMIM:605275
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Eczematoid dermatitis, Periorbital wrinkles, Dry skin, Hypoplastic-absent sebaceous glands, Rhini... OMIM:305100
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... OMIM:615726
Atopic Keratoconjunctivitis
Keratitis, Dry skin, Allergic conjunctivitis, Keratoconjunctivitis sicca, Blepharitis ORPHA:163934
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... ORPHA:77261
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Palmoplantar keratoderma, Orthokeratosis, P... ORPHA:79501
Alopecia Universalis
Atopic dermatitis, Autoimmunity, Psoriasiform dermatitis, Abnormal circulating lipid concentration ORPHA:701
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Menkes Disease
Thickened skin, Atypical scarring of skin, Dry skin, Intrauterine growth retardation, Osteomyelitis ORPHA:565
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatic amyloidosis, Reduced circulating compl... ORPHA:470
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Failure to thrive, Dry skin, Intrauterine growth retardation, Sev... OMIM:210710
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, D... OMIM:222470
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Spider hemangioma, Hepatitis, Palmar telangiectasia, Cholestasi... ORPHA:171
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Dry skin, Postnatal growth retard... OMIM:163950
Trichorhinophalangeal Syndrome, Type Iii
Short stature, Epidermal hyperkeratosis OMIM:190351
Chikungunya
Erythema, Cervical lymphadenopathy, Petechiae, Skin vesicle, Lymphadenopathy, Cutaneous photosens... ORPHA:324625
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Seborrheic dermatitis, Acne OMIM:167100
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema ORPHA:495
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Septic arthritis, Fasciitis, Dry skin, Osteomyelitis, Abscess, Tooth a... ORPHA:642
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Keratitis, Acral ulceration OMIM:256800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Ifap Syndrome 2
Perioral erythema OMIM:619016
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Panhypogammaglobulinemia OMIM:615207
Noonan Syndrome 10
Short stature, Palmoplantar cutis laxa, Hyperkeratosis, Cafe-au-lait spot OMIM:616564
Autosomal Dominant Hypocalcemia
Dry skin, Eczematoid dermatitis ORPHA:428
22Q11.2 Deletion Syndrome
Acne, Failure to thrive, Hypopigmented skin patches, Impaired T cell function, Obesity, Intrauter... ORPHA:567
Localized Scleroderma
Erythema ORPHA:90289
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Premature grayin... OMIM:127550
Castleman Disease
Increased circulating interleukin 6 concentration, Follicular hyperplasia, Generalized lymphadeno... ORPHA:160
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Acantholysis ORPHA:158687
Barber-Say Syndrome
Absent nipple, Premature skin wrinkling, Dry skin, Redundant skin, Cryptorchidism, Hypoplastic ni... OMIM:209885
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Progeroid facial appearance, Facial wrinkling, Dry skin, Cutis marmorata, Decr... OMIM:606721
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Leukocytosis ORPHA:2070
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Abnormal lymphatic ves... ORPHA:2330
Scalp-Ear-Nipple Syndrome
Thickened skin, Dry skin, Pyelonephritis, Aplasia cutis congenita, Short stature OMIM:181270
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... OMIM:181000
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Neoplasm of the pancreas ORPHA:2959
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Helix Syndrome
Hyperparathyroidism, Dry skin OMIM:617671
Thyroid Ectopia
Dry skin, Jaundice, Ectopic thyroid, Lingual thyroid ORPHA:95712
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin ORPHA:2092
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Bruising susceptibility, Lymphopenia, Abnormal lymphocyte ... ORPHA:99826
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Anemia, Jaundice, Decreased cir... ORPHA:247598
Fucosidosis
Failure to thrive, Generalized hyperkeratosis ORPHA:349
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Nevus OMIM:620189
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Acral ulceration, Short stature, Osteomyelitis leading to amputation due to sl... OMIM:256810
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Hepatomegaly, Abnormal isohemagglutinin level, Neutrophilia, Anemia ORPHA:99843
Lassa Fever
Jaundice, Increased circulating IgM level ORPHA:99824
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Limb-Mammary Syndrome
Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Multiple cafe-au-lait spots... ORPHA:69085
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Premature skin wrinkling, Dry skin, Prominent scalp veins, Cryptorchidism, Red... OMIM:264090
Ablepharon Macrostomia Syndrome
Dry skin, Redundant skin, Excessive wrinkled skin, Growth delay, Thin skin ORPHA:920
Fabry Disease
Delayed puberty, Short stature, Arthritis, Anemia, Subcutaneous nodule, Hyperkeratosis ORPHA:324
Transketolase Deficiency
Conjunctivitis, Seborrheic dermatitis, Proportionate short stature, Uveitis ORPHA:488618
Cartilage-Hair Hypoplasia
Hepatomegaly, Neutropenia, Anemia, Decreased circulating antibody level, Abnormality of the pancreas ORPHA:175
De Sanctis-Cacchione Syndrome
Severe short stature, Keratitis, Dermal atrophy, Parakeratosis, Conjunctivitis, Hypermelanotic ma... OMIM:278800
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Erythema, Cheilitis, Keratitis, Failure to thrive, Eczematoid dermatitis, G... ORPHA:2273
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Ramon Syndrome
Juvenile rheumatoid arthritis, Hyperkeratosis, Short stature, Decreased body weight OMIM:266270
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Subcutaneous nodule, Papule, Hyperkeratosis ORPHA:79280
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Streak ovary, S... ORPHA:3464
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor... ORPHA:85436
Scleromyxedema
Paraproteinemia, Aged leonine appearance, Generalized abnormality of skin ORPHA:167635
Leprechaunism
Thickened skin, Failure to thrive, Postnatal growth retardation, Decreased body weight, Acanthosi... ORPHA:508
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Failure to thrive OMIM:210210
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Auto... ORPHA:70591
Bartsocas-Papas Syndrome 1
Dry skin, Skin tags, Intrauterine growth retardation OMIM:263650
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Moderate postnatal growth retardation OMIM:118650
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Orofaciodigital Syndrome Type 1
Dry skin, Milia, Lip pit, Chronic otitis media ORPHA:2750
Cowden Syndrome
Palmoplantar keratoderma, Hypopigmented skin patches, Failure to thrive, Generalized hyperkeratos... ORPHA:201
Exercise-Induced Malignant Hyperthermia
Dry skin, Thrombocytopenia, Elevated circulating creatine kinase concentration ORPHA:466650
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ... ORPHA:355
Congenital Analbuminemia
Obesity, Small for gestational age, Increased circulating antibody level ORPHA:86816
Cryptococcosis
Pneumonia, Sepsis, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Prostatitis, Perito... ORPHA:1546
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin, Growth delay, Increased circulating thyroglobulin concentration OMIM:218700
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Obesity, Eczematoid dermatitis, Failure to thrive ORPHA:369950
Koolen-De Vries Syndrome Due To A Point Mutation
Eczematoid dermatitis, Recurrent otitis media, Slender build, Postnatal growth retardation, Ichth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Eczematoid dermatitis, Recurrent otitis media, Slender build, Postnatal growth retardation, Ichth... ORPHA:363958
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism, Neonatal death OMIM:601186
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Obesity, Splenomegaly, Rec... OMIM:188400
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Autoimmunity, Psoriasiform dermatitis, Autoimmune hemolytic anemia... ORPHA:436252
Corneodermatoosseous Syndrome
Erythema ORPHA:3194
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly OMIM:610644
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Acute myelomonocytic leukemia, Growth delay, Failure to thrive, Hyperpigment... ORPHA:99646
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Neutrophilia ORPHA:79139
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Failure to thrive, Abnormal testis morphology ORPHA:2556
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Molluscoid pseudotumors, Excessive wrinkled skin, Palmoplantar cutis laxa, F... OMIM:225400
Alzahrani-Kuwahara Syndrome
Short stature, Dry skin, Eczematoid dermatitis OMIM:619268
Warburg-Cinotti Syndrome
Erythema, Poor wound healing, Sterile abscess OMIM:618175
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Nevus, Recurrent otitis media, Dry skin, Redundant skin in infancy, Chronic ... OMIM:150230
Scorpion Envenomation
Acute pancreatitis, Erythema, Purpura ORPHA:466677
Relapsing Polychondritis
Erythema, Purpura, Hepatitis ORPHA:728
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Seborrheic dermatitis, Ichthyosis OMIM:300868
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Chand Syndrome
Dry skin, Commissural lip pit ORPHA:1401
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis OMIM:615510
Behcet Syndrome
Erythema OMIM:109650
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis ORPHA:676
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Autoimmunity, Abnormality of tumor necrosi... ORPHA:37202
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atrophic scars, Cutis laxa, Follicular hyperkeratosis OMIM:614557
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Ablepharon-Macrostomia Syndrome
Dry skin, Thin skin, Redundant skin, Premature skin wrinkling OMIM:200110
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Yellow Fever
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter... ORPHA:99829
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Increased circulating antibody level OMIM:606002
Velocardiofacial Syndrome
Impaired T cell function, Cryptorchidism, Hypocalcemia, Hypoparathyroidism, Recurrent infections OMIM:192430
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
6Q Terminal Deletion Syndrome
Obesity, Hyperkeratosis, Failure to thrive ORPHA:75857
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas, Patent ductus arteriosus OMIM:618162
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, ... ORPHA:2237
Baller-Gerold Syndrome
Erythema, Anomalous splenoportal venous system OMIM:218600
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Purpura ORPHA:183
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Abnormal granulocyte morphology ORPHA:98907
Sympathetic Ophthalmia
Erythema ORPHA:79098
Pseudoxanthoma Elasticum
Cutis laxa, Civatte bodies OMIM:264800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema, Failure to thrive, Truncal obesity OMIM:612474
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Atypical scarring of skin, Follicular hyperkeratosis, Thin skin ORPHA:536545
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Blepharitis, Thin skin OMIM:129900
Sarcoidosis
Bronchiectasis, Abnormal lymph node morphology, Parotitis, Leukopenia, Hypercalcemia, Enlargement... ORPHA:797
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Proteus Syndrome
Thickened skin, Thymus hyperplasia, Verrucous epidermal nevus, Generalized hyperkeratosis, Capill... ORPHA:744
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Autoimmunity, Pancreatitis, Hypocalcemic seizures, Hyper... ORPHA:405
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Blepharitis OMIM:604292
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Recurrent viral infections, Impaired T cell function OMIM:176690
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening ORPHA:73223
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased circulating IgG level, Secretory IgA deficiency, Absent g... ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level, Patent ductus arteriosus ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level, Patent ductus arteriosus ORPHA:261552
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Splenomegaly ORPHA:75565

Histopathology

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

There is no histopathology data for Nfkbia

IMPC related publications

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

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nfkbiatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nfkbiatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter