Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
TANK-binding kinase 1
Synonyms:
1200008B05Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tbk1 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 Tbk1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ... ORPHA:1930
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis OMIM:617900
Amyotrophic Lateral Sclerosis
Xerostomia ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
OMIM:616439
Frontotemporal Dementia With Motor Neuron Disease
ORPHA:275872

The table below shows human diseases predicted to be associated to Tbk1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency 15B
Chronic oral candidiasis, Monocytosis, Recurrent infections, Decreased circulating antibody level... OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Inflammation of... OMIM:619281
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Na... OMIM:612783
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Increased T cell count, Recurrent sinusitis, Sparse hair, Increased circulating I... ORPHA:98813
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Increased circulat... OMIM:615934
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Nephritis, Autoimm... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C... OMIM:617514
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Recurrent lower respiratory tract infections, Lymphadenopathy, BC... OMIM:619644
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency 50
Neutropenia, Lymphopenia, Eczematoid dermatitis OMIM:300988
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Follicular hyperkeratosis, Elevated circulating C-reac... OMIM:617388
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of... OMIM:240500
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Elevated circulating... OMIM:620565
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Ichthyosis, Brittle hair, Recurrent infections, Increased circulating IgA l... OMIM:616395
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, ... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in... OMIM:300635
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Increase... OMIM:618282
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Skin rash, Splenomegaly, Abnormality of tumor ne... ORPHA:540
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Hemophagoc... ORPHA:158061
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ... ORPHA:486
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Arthritis, Increased circulating... OMIM:260920
Immunodeficiency 32B
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas... OMIM:226990
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Hyperkeratosis, ... ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Netherton Syndrome
Parakeratosis, Sepsis, Brittle hair, Increased circulating IgE level, Sparse scalp hair, Chronic ... OMIM:256500
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v... ORPHA:90064
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Incr... OMIM:300291
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Kerion Celsi
Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec... ORPHA:499
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Dissecting Cellulitis Of The Scalp
Edema, Recurrent skin infections, Pruritus, Abnormal hair morphology ORPHA:345
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer... ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Bronchiectasis, Decreased ... OMIM:618394
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Abnormality of the nail, Hyperkeratosis, Skin rash, Abnormal lymph... ORPHA:2584
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Neutropenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis OMIM:300299
X-Linked Sideroblastic Anemia
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Persistent EBV viremia, T lymphocytopenia, Decreased proportion of mem... OMIM:619510
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Lympha... OMIM:608971
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Parakeratosis, Alopecia of scalp, Hyperkeratosis, Increased circulating ... ORPHA:90368
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Ichthyosis, Lymphadenopathy, Hepatomegaly, P... OMIM:618495
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Immunodeficiency 88
Eosinophilia OMIM:619630
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increas... OMIM:256040
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Immunodeficiency 44
Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Lymphopenia, De... OMIM:616636
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Aquagenic Palmoplantar Keratoderma
Palmar pruritus, Atopic dermatitis, Orthokeratotic hyperkeratosis, Recurrent sinopulmonary infect... ORPHA:498359
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Ly... ORPHA:397596
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recurrent upper respiratory t... OMIM:619752
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar... ORPHA:189
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Mediastinal lymphadenopathy, Inflammator... ORPHA:3392
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Evans Syndrome
Jaundice, Petechiae, Epistaxis, Syncope, Bruising susceptibility, Pallor ORPHA:1959
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Onychomycosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea... OMIM:620282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Peripheral Cone Dystrophy
Pallor OMIM:609021
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Acanthosis nigricans, Hypotriglyceridemia, Increased ci... ORPHA:2298
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai... ORPHA:2722
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ... ORPHA:217390
Netherton Syndrome
Trichorrhexis nodosa, Ichthyosis, Acanthosis nigricans, Abnormal hair morphology, Recurrent infec... ORPHA:634
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 92
Recurrent oral herpes, Abnormal B cell proliferation, Thrombocytosis, Sclerosing cholangitis, Dec... OMIM:619652
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections... OMIM:615285
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Ascites, Onychomycosis, Biliary cirrhosis, Splenomegaly... ORPHA:186
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Anonychia With Flexural Pigmentation
Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkeratosis ORPHA:69125
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Breath-Holding Spells
Pallor OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Skin ras... OMIM:603552
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit... ORPHA:505
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Increased circu... OMIM:620603
Vulvovaginal Gingival Syndrome
Parakeratosis, Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail ORPHA:83453
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Decreased circulating total IgM, Increased circulati... OMIM:617638
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 69
BCGitis, Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, BC... OMIM:618963
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Increased circulating ... ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Reticular Dysgenesis
Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Dehydratio... ORPHA:33355
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Skin rash, Hyperkeratosis, Elevated circulating creatine ... OMIM:604173
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Hypocystinemia, Decreased circulating antibody leve... OMIM:617744
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting... ORPHA:79147
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin i... ORPHA:79503
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Palmoplantar keratoderma, Recurrent respiratory infections, Increased circulating IgE... OMIM:615508
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Increased circulating Ig... ORPHA:343
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Pneumonia, Sepsis, Alopecia of scalp, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of... OMIM:602450
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspi... ORPHA:79124
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Hypoproteinemia, Ascites, Opportunistic infection, ... ORPHA:90362
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Sepsis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancy... OMIM:615122
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:613561
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Dystrophic Epidermolysis Bullosa Pruriginosa
Nail dystrophy, Hyperkeratosis, Increased circulating IgE level, Abnormal toenail morphology, Pru... ORPHA:89843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... OMIM:613101
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple... OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Increased circulating antibody level, Panniculitis, A... OMIM:617591
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Sézary Syndrome
Nail dystrophy, Palmoplantar keratoderma, Hepatomegaly, Abnormal immunoglobulin level, Lymphadeno... ORPHA:3162
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Beta-Thalassemia
Hepatomegaly, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepa... ORPHA:848
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren... OMIM:137100
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis, Sparse hair ORPHA:91132
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice, Splenomegaly, Hepatomegaly OMIM:615631
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Pericarditis, Splenomegaly, Pallor ORPHA:163596
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Recurrent lower respir... OMIM:615758
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Atopic dermatitis, Sparse hair OMIM:606242
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnorma... ORPHA:70578
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperkeratosis, Dystrophic toenail, Absent toenail, Abnormal fingernail morphology, ... ORPHA:89838
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu... ORPHA:91139
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Palmoplantar keratoderma, Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashe... OMIM:602540
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Recurrent otitis media, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebr... OMIM:618625
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutrope... ORPHA:37042
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Facial hirsutism, Recurrent infection... OMIM:170100
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Foc... ORPHA:276575
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Rec... OMIM:614576
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkerato... OMIM:144200
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T... OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Recurrent... OMIM:612782
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Myelofibrosis
Splenomegaly, Purpura, Hepatomegaly, Pallor OMIM:254450
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly,... ORPHA:100025
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia univers... ORPHA:1008
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Increased circulating IgE level, Dehydration, Long eyelashes, Pustule, Recurrent ... OMIM:616069
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Synophrys, Decreased circulating IgG level, Decreased circulating total IgM, Decreased... OMIM:300861
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Splenomegaly, Pal... OMIM:266200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Increased circulating IgE level, Onycholysis, Erythroderma, Eosinop... OMIM:270300
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Palpebral edema, Decreased specific antibody response to vaccination, Low posterior hairline, Rec... ORPHA:221139
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Pneumocystis carinii pneumonia, Recurrent lower respirato... OMIM:620321
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276580
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Arthritis, Skin rash, Alopecia, Meningitis, A... ORPHA:47
Primary Myelofibrosis
Abnormal bleeding, Purpura, Hepatomegaly, Petechiae, Portal hypertension, Increased circulating l... ORPHA:824
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentra... OMIM:611762
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Hyperkeratosis, Hypohidrosis, Recurrent pneumonia, Bronchiectasis, Frontal upsweep... OMIM:301220
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E... OMIM:614878
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Acanthosis nigricans, Increased circulating antibody level ORPHA:411593
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor, Splenomegaly ORPHA:90037
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas... OMIM:603554
Ulerythema Ophryogenesis
Contact dermatitis, Sparse lateral eyebrow, Acne, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:3406
Erythrokeratodermia Variabilis
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Skin rash, Patchy palmoplantar... ORPHA:317
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r... OMIM:607115
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy, Cholangitis, Elevated circulating C-reactive protein concentration... OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Hypohidrosis,... OMIM:602400
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Hyper... OMIM:612852
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis OMIM:194380
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hepatoce... ORPHA:231222
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Splenomegaly, Chronic active Epstein-Barr virus infection, Hyperproteinemia... ORPHA:158048
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Prolidase Deficiency
Hepatomegaly, Hyperkeratosis, Hirsutism, Recurrent cystitis, White forelock, Thin skin, Abnormal ... ORPHA:742
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Recurrent infections, Small nail, Hyperkerato... OMIM:601675
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Arthritis, ... OMIM:604416
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ... OMIM:150550
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Melena, Post-partum hemorrhage, Gingival... ORPHA:98870
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp, Perifolliculitis OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to... OMIM:617294
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent bronchopulmonary infections, Low posterior hairline, Thickened skin, B... OMIM:617303
Griscelli Syndrome
Premature graying of hair, Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymp... ORPHA:381
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreas... OMIM:619381
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains OMIM:612952
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections, Pruritus ORPHA:454
Secondary Intestinal Lymphangiectasia
Anasarca, Cirrhosis, Intestinal lymphedema, Recurrent infections, Decreased circulating antibody ... ORPHA:90363
Lamellar Ichthyosis
Chronic otitis media, Sepsis, Ichthyosis, Abnormality of the nail, Hyperkeratosis, Dehydration, S... ORPHA:313
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Hydrops fetalis, Increased circu... OMIM:620376
Optic Atrophy 1
Pallor OMIM:165500
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Cardiac arrest ORPHA:49827
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Decreased circulating antibody level, Sparse body hair, Sparse hair,... ORPHA:1006
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Hypohidrosis, Blepharitis, Sparse ey... OMIM:618535
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Hepatomegaly, Cardiomegaly, Decreased circulating antibody level... ORPHA:79330
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... ORPHA:353298
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis, Alope... OMIM:212360
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Decreased circulating complement C3 concentrat... OMIM:620514
Bloom Syndrome
Cheilitis, Skin rash, Severe varicella zoster infection, Acute myeloid leukemia, Recurrent tonsil... ORPHA:125
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Leu... ORPHA:83313
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... OMIM:301078
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis, Pruritus ORPHA:79399
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA level, Xerosto... ORPHA:79078
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Foll... OMIM:613736
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypohidrosis, E... OMIM:615704
Neonatal Lupus Erythematosus
Aplastic anemia, Parakeratosis, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Mala... ORPHA:398124
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bruising susceptibility, Intracranial hemorrhage, Splenomegaly, Prolonged bleeding ... ORPHA:3226
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta... ORPHA:87503
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Ichthyosis, Palmoplantar keratoderma, Decreased circulating ceruloplasmin concentratio... OMIM:242150
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased circulating lactate dehydrogenase concentration, Pallor, Jaundice, Hepatomegaly OMIM:613839
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Abnormal hair morphology, Recurrent bronchitis, Hyp... OMIM:208900
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczematoid dermatitis, Hypohidrosis, Thin skin, Sparse body hair, Abnormal fingernail morphology,... ORPHA:1810
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Decreas... OMIM:242860
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Ichthyosis, Nail dystrophy, Congenital ichthyosiform erythroderma,... OMIM:242300
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Bathing Suit Ichthyosis
Parakeratosis, Ichthyosis, Nail dystrophy, Thickened skin, Hypohidrosis, Congenital nonbullous ic... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, ... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Cobblestone-like hyperkerat... OMIM:620150
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Onycholysis, Sacroiliac arthritis, Nail pits, Enth... ORPHA:85436
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Poroma, Apocrine... OMIM:224750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated hepatic iron concentration, Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Acanthosis nigricans, Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis... ORPHA:59303
Immunodeficiency 58
Chronic otitis media, Seborrheic dermatitis, Decreased specific antibody response to vaccination,... OMIM:618131
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Jaundice, Splenomegaly, Tachycardia, Pallor ORPHA:90033
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reac... OMIM:610377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepat... OMIM:607626
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Ichthyosis With Erythrokeratoderma
Parakeratosis, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Congen... OMIM:620507
Omenn Syndrome
Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Eryth... ORPHA:39041
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Pa... ORPHA:3386
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Congenital bullous ichthyosiform erythroderma, Hyperhidrosis, Sparse hair, Palmopla... OMIM:613576
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac... OMIM:619693
Bazex Syndrome
Parakeratosis, Nail dystrophy, Acanthosis nigricans, Anemia, Yellow nails, Hyperkeratosis, Palmop... ORPHA:166113
Olmsted Syndrome 2
Cheilitis, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palm... OMIM:619208
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy, Pruritus OMIM:131850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Skin rash, Hypoproteinemia, Leukopenia, Splenomegaly, Edema, Jaundice, Panc... OMIM:603553
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Sparse scalp hair, Hypohidrosis,... OMIM:612132
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Abnormal fingernail morphology, Hyperhidrosis, Palmoplantar ... ORPHA:2199
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Pleural e... ORPHA:2902
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Generalized keratosis follicularis, Absent eyelash... ORPHA:2890
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Dystrophic fingernails, Abnormal hair morphology, Recurrent infections, Inc... ORPHA:2314
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Congenital... ORPHA:79395
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor OMIM:616307
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Acanthosis nigricans, Recurrent infections, Hirsutism, Elevat... OMIM:613327
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Lymphedema, Hyperlipidemia, Erysipelas, Splenomegaly, Conjugat... OMIM:214900
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Alg12-Cdg
Sepsis, Polyhydramnios, Recurrent pharyngitis, Partial absence of specific antibody response to H... ORPHA:79324
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Cole Disease
Abnormal blood phosphate concentration, Abnormal hair morphology, Abnormality of the nail, Hyperk... OMIM:615522
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... ORPHA:85435
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Intellectual Developmental Disorder, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Synophrys, Eczematoid dermatitis, Thick eyebr... OMIM:611091
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in... ORPHA:346
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ... ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Crohn's disease, ... OMIM:618935
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... ORPHA:263455
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Neonatal hyperbilirubinemia, Sparse hair, Alopecia ORPHA:3363
Proteus Syndrome
Hyperkeratosis, Lymphangioma, Splenomegaly OMIM:176920
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Trichoepithelioma, Atopic dermatitis, Eczematoid dermatitis, H... OMIM:301845
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Patchy alopecia OMIM:247100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Sparse hair, Palmoplantar ... ORPHA:2251
Immunodeficiency 59 And Hypoglycemia
Sepsis, High anterior hairline, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased... OMIM:233600
Immunodeficiency 47
Cholestasis, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Decreased circulating total I... OMIM:300972
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Increased circulating antibody level,... ORPHA:77259
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Olmsted Syndrome, X-Linked
Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Posterior blepharitis, Blepharitis, A... OMIM:300918
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Poems Syndrome
Leukonychia, Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Pleural effusio... ORPHA:2905
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca... ORPHA:781
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Recurrent infections, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse... OMIM:300953
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Abnormal bleeding, Hepatomegaly, Splenomegaly, Pallor ORPHA:75564
Papillon-Lefèvre Syndrome
Nail dystrophy, Liver abscess, Severe periodontitis, Palmoplantar keratoderma, Periodontitis, Abn... ORPHA:678
Kid Syndrome
Nail dystrophy, Recurrent bacterial skin infections, Sparse hair, Recurrent cutaneous abscess for... ORPHA:477
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Congenital Enterovirus Infection
Myocarditis, Sepsis, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphology, Ski... ORPHA:292
Aspergillosis
Invasive pulmonary aspergillosis, Increased circulating IgE level, Meningitis, Pleural effusion, ... ORPHA:1163
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Pruritus, Follicular hyp... OMIM:607903
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Keratoderma Hereditarium Mutilans
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo... ORPHA:494
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, Ichthyosis, Tiger tail banding, Sparse eyebrow, Sparse hair OMIM:619692
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati... ORPHA:829
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf... OMIM:242700
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Recurrent r... OMIM:613385
Oliver-Mcfarlane Syndrome
Alopecia, Long eyebrows, Sparse hair, Long eyelashes OMIM:275400
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly... OMIM:613179
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Microcytic anemia, Hypertrichosis OMIM:612379
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Meige Disease
Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Lymphedema, Pleur... ORPHA:90186
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Polyhydramnios, Generalized ichthyosis, Allergic rhinitis, Erythroderma, Pruri... OMIM:608649
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, Recurrent Asper... ORPHA:391487
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Anemia, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar ker... ORPHA:79402
Generalized Pustular Psoriasis
Cheilitis, Sepsis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis... ORPHA:247353
Good Syndrome
Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Recurrent urinary tract infec... ORPHA:169105
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,... ORPHA:98848
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Idiopathic Trachyonychia
Nail dystrophy, Ichthyosis, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periung... ORPHA:79153
Tafro Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Anemia, Lymphadenopathy, Elevate... ORPHA:457077
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Skin rash, Hypoproteinemia, Abnormal platele... ORPHA:167
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, L... ORPHA:319218
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Leukocytosis... OMIM:615895
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Inflammatory abnormality of the eye, Breast aplasia, Xerostomia, Hyperkerat... ORPHA:238468
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Chromomycosis
Lymphangiectasis, Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphe... ORPHA:182
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neut... ORPHA:284426
Retinitis Pigmentosa 51
Pallor OMIM:613464
Noonan Syndrome 8
Polyhydramnios, Webbed neck, Hyperkeratosis, Pleural effusion, Eczematoid dermatitis, Curly hair,... OMIM:615355
Majeed Syndrome
Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Inflammatory abnormality of the s... OMIM:609628
Pityriasis Rubra Pilaris
Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Eczematoid dermatitis, Thickened s... ORPHA:2897
Lipoid Proteinosis
Alopecia of scalp, Hyperkeratosis, Thickened skin, Pustule, Acne, Recurrent respiratory infections ORPHA:530
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-r... OMIM:608068
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Hyperammonemia, Sparse hair, Bronchiectasis, Oligohydramnios, Neutropenia OMIM:618253
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni... OMIM:614602
Even-Plus Syndrome
Highly arched eyebrow, Recurrent urinary tract infections, Atopic dermatitis, Synophrys, Sparse h... OMIM:616854
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Dyskeratosis Congenita, Digenic
Nail dystrophy, Anemia, Recurrent infections, Sparse eyelashes, Decreased circulating IgG level, ... OMIM:620040
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancyto... OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, S... OMIM:612840
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Severe Epstein Barr virus infection, Hemophagocytosis, Intestinal infl... OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Pustule, Erythroderma, Paronychia, Onychogryposis OMIM:614328
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, P... ORPHA:231226
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/... ORPHA:1818
B4Galt1-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased LDL cholesterol conce... ORPHA:79332
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Pallor ORPHA:822
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio... OMIM:306400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Erythrokeratodermia Variabilis Et Progressiva 6