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, Neutrophilia, Leukocytosis, Hyponatremia, ... 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
Alopecia, Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increas... ORPHA:169154
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... OMIM:610163
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D... OMIM:308230
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Elevated circulating C-reactive protein concentrati... OMIM:615934
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Splenomegaly, Follicular hyperplasia, Increased circulating IgG le... OMIM:603909
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... OMIM:619644
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections OMIM:235900
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, He... OMIM:300400
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive protein concentrat... OMIM:617388
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Increased circulating IgA level, Neutrophilia, Leukocytosis, Elevated circulating... OMIM:617099
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio... OMIM:615559
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... ORPHA:2442
Retinitis Pigmentosa 60
Pallor OMIM:613983
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Increased circulating IgA level, Lymphopenia, B... OMIM:616395
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent otitis media OMIM:616022
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto... OMIM:300853
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... OMIM:300291
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglob... OMIM:269840
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Maculopapular exant... ORPHA:540
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P... ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Kerion Celsi
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Lymphadenopathy, Recur... ORPHA:499
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren... ORPHA:486
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Dissecting Cellulitis Of The Scalp
Pruritus, Abnormal hair morphology, Edema, Recurrent skin infections ORPHA:345
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Eczema, Bone marrow hypocellularity, Refractory anemia, Acute myeloid le... OMIM:616871
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Aplastic a... OMIM:308240
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Ulcerative coliti... OMIM:618394
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Abnormality of the nail, Hyperkeratosis,... ORPHA:2584
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Optic Atrophy 9
Pallor OMIM:616289
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocyt... OMIM:608971
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Netherton Syndrome
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG le... OMIM:256500
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re... OMIM:619510
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fine hair, Pruritus, Slo... ORPHA:90368
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, ... ORPHA:498359
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf... OMIM:619752
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Wiskott-Aldrich Syndrome
Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decr... OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Increased circulating interleukin 8 concentration, Hepatomegaly, Elevated circula... OMIM:256040
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... OMIM:609529
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Angiostrongyliasis
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... ORPHA:74
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... OMIM:243700
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Tularemia
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... ORPHA:3392
Insulin-Resistance Syndrome Type B
Hirsutism, Decreased serum complement factor B, Increased circulating IgA level, Abnormal circula... ORPHA:2298
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Recurrent upper and lower respi... ORPHA:70593
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent infections, Recurrent skin infections OMIM:610680
Retinitis Pigmentosa 70
Pallor OMIM:615922
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abnormal circulating... ORPHA:186
Evans Syndrome
Petechiae, Bruising susceptibility, Pallor, Epistaxis, Syncope, Jaundice ORPHA:1959
Anonychia With Flexural Pigmentation
Anonychia, Follicular hyperkeratosis, Hyperkeratosis, Abnormal hair morphology, Alopecia of scalp ORPHA:69125
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
Breath-Holding Spells
Pallor OMIM:607578
Netherton Syndrome
Sparse scalp hair, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Sparse eyebrow, S... ORPHA:634
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Hepatomegaly, Splenomegaly OMIM:615234
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... ORPHA:505
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion, Pruritus, Ridged nail, Parakeratosis ORPHA:83453
Reticular Dysgenesis
Skin rash, Leukopenia, Dehydration, Sepsis, Chronic otitis media, Abnormality of neutrophils, Dec... ORPHA:33355
Ichthyosis, Congenital, Autosomal Recessive 13
Onychomycosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Eosinophilia, Chronic mucocutaneou... OMIM:147060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Poikiloderma With Neutropenia
Blepharitis, Recurrent otitis media, Recurrent bronchopulmonary infections, Skin rash, Splenomega... OMIM:604173
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Recurrent... OMIM:617744
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail ... ORPHA:79503
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag... OMIM:615122
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid h... OMIM:612541
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent skin infections, Alopecia, Atrophic gastritis, Recu... OMIM:616576
Omenn Syndrome
Recurrent fungal infections, Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia,... OMIM:603554
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Peritonitis, Arthritis, Recurrent aphthous stomati... ORPHA:343
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom... OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, Panhypoga... OMIM:601457
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... OMIM:615767
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections OMIM:606445
Sézary Syndrome
Hepatomegaly, Splenomegaly, Alopecia, Abnormal immunoglobulin level, Edema, Nail dystrophy, Eryth... ORPHA:3162
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus, Nail dystrophy, Abnormal toenail morphology, Increased circulating IgE ... ORPHA:89843
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Generalized edema, Decreased circulating IgA level, Opportunistic infection,... ORPHA:90362
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ... OMIM:618108
Retinitis Pigmentosa 73
Pallor OMIM:616544
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Ichthyosis-Hypotrichosis Syndrome
Ichthyosis, Sparse hair ORPHA:91132
Parana Hard Skin Syndrome
Generalized hirsutism, Hyperkeratosis, Thickened skin ORPHA:2812
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... ORPHA:848
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Absent toenail, Ridg... ORPHA:89838
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... ORPHA:91139
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... OMIM:613011
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency 86
Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Sepsis, Decreased prealbumin level, Pneum... ORPHA:37042
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Atopic dermatitis, Thick eyebrow, Sparse hair, Widow's peak OMIM:606242
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H... ORPHA:276556
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... ORPHA:29073
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, F... ORPHA:276575
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Hyperkeratosis, Absent eyelashes, Recurrent otitis media, Nail dystr... OMIM:618625
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ... ORPHA:507
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased propor... OMIM:618204
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Ichthyosis, Hyp... OMIM:602540
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... OMIM:614576
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Alopecia, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneo... OMIM:618282
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Palmoplantar Keratoderma, Epidermolytic
Palmar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplant... OMIM:144200
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Ridged nail OMIM:101900
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Brittle hair, Eosinophilia, Nail dystrophy, Pruritus, Erythroderma, I... OMIM:270300
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Retinitis Pigmentosa 27
Pallor OMIM:613750
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Optic Atrophy 1
Pallor OMIM:165500
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin... OMIM:300861
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, Sepsis, Chronic otit... ORPHA:33110
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hypertrichosis, B lymphocytopenia, Decreased specific antibody response to vaccination, Recurrent... ORPHA:221139
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho... ORPHA:1008
Bone Marrow Failure Syndrome 4
Leukopenia, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... OMIM:618116
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Prolidase Deficiency
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Facial hirsutism, Eczema, Recur... OMIM:170100
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Cholecystitis, Jaundice, Reduced red cell pyr... OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, H... ORPHA:276580
X-Linked Agammaglobulinemia
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Alopecia, Sepsis, Abnormality of the lymphatic... ORPHA:47
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia, Ascites, Lympha... ORPHA:100025
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... OMIM:313900
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eosinophilia, Eczema, Autoimmune th... OMIM:304790
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art... OMIM:611762
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia ORPHA:276608
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
Insulin Autoimmune Syndrome
Increased circulating antibody level, Acanthosis nigricans, Arthralgia/arthritis ORPHA:411593
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis... OMIM:614204
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal cytokine s... ORPHA:158048
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Adult-Onset Still Disease
Joint swelling, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-re... ORPHA:829
Erythrokeratodermia Variabilis
Generalized hirsutism, Skin rash, Alopecia, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, A... ORPHA:317
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Sterile abscess, Hep... OMIM:604416
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu... ORPHA:79124
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Contact dermatitis, Acne, Hyperkeratotic papule, Sparse lateral eyebrow ORPHA:3406
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegal... OMIM:612852
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Sepsis, Coarse hair, Enlarged kidney, Long eyelashes, Bone marrow hypocellularity, ... OMIM:617303
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Primary Myelofibrosis
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Hepatosplenomegaly, Increased c... ORPHA:824
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration... ORPHA:381
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst... OMIM:617294
Lamellar Ichthyosis
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dehydration, Sepsis, Chronic otitis media, Ichthy... ORPHA:313
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Abnormal fin... ORPHA:742
Trichothiodystrophy 1, Photosensitive
Pili torti, Congenital nonbullous ichthyosiform erythroderma, Decreased circulating IgG level, Sp... OMIM:601675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice OMIM:194380
Roifman Syndrome
Hyperconvex nail, Eosinophilia, Eczema, Hepatosplenomegaly, Prominent eyelashes, Decreased circul... ORPHA:353298
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey... OMIM:602400
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Congenital Dyserythropoietic Anemia Type Iii
Melena, Post-partum hemorrhage, Pallor, Oral cavity bleeding, Elevated hepatic transaminase, Ging... ORPHA:98870
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr... ORPHA:90363
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Acquired Ichthyosis
Recurrent skin infections, Ichthyosis, Hyperkeratosis, Pruritus, Palmoplantar keratoderma ORPHA:454
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... OMIM:619381
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, High-output congestive heart failure, Hepatomegaly, Spl... ORPHA:231222
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... OMIM:301078
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,... OMIM:301220
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Alopecia Antibody Deficiency
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, De... ORPHA:1006
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... ORPHA:448237
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Eczema, Hypohidrosis, Abnormal fingernail morphology, Thin skin ORPHA:1810
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nai... OMIM:212360
Mal De Meleda
Inflammatory abnormality of the skin, Ichthyosis, Superficial dermal perivascular inflammatory in... ORPHA:87503
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Facial edema, Palpebral edema, Xerostomia, Myositis, Increased c... ORPHA:79078
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Eczema, Increased circulating IgG level, Membranoproliferativ... OMIM:615816
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Sparse hair, Reduced terminal:vellus ratio OMIM:601553
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Pruritus, Nail dystrophy ORPHA:79399
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating IgG level, Elevate... OMIM:208900
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Mogs-Cdg
Decreased circulating IgA level, Hirsutism, Decreased circulating IgG level, Hepatomegaly, Pulmon... ORPHA:79330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, T lymphocytopenia, Increased circulating IgM level, P... OMIM:242860
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Parakeratosis, Skin rash, Splenomegaly, Maculopapular exanthema, Aplas... ORPHA:398124
Popov-Chang syndrome
Lymphopenia, Coarse hair, Hyperkeratosis, Decreased circulating antibody level, Recurrent otitis ... OMIM:618428
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Angioma Serpiginosum, X-Linked
Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy OMIM:300652
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hepatomegaly, Alopecia, Elevated circulating creatine kinase concentration, Erysi... OMIM:615704
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bruising susceptibility, Splenomegaly, Pallor, Intracranial hemorrhage, Prolonged b... ORPHA:3226
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... OMIM:618131
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... ORPHA:83313
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Ab... ORPHA:92
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Sparse hair, Recurrent skin infections, Psoriasiform dermatitis, Hypernatremia, A... OMIM:615508
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Cirrhosis, Fragile nails, Ichthyosis, Hypoalbuminemia, Decreased circulati... OMIM:242150
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure, Splenomegaly ORPHA:98375
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Palmopla... OMIM:242300
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc... ORPHA:229717
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... OMIM:615024
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasia/Hypoplasia of the eyebrow, Eosinophil... ORPHA:39041
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Bathing Suit Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Sparse hair, Alopecia, Hypohidrosis, Palmoplant... ORPHA:100976
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... ORPHA:85436
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Tachycardia, Jaundice, Congestive heart failure ORPHA:90033
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... ORPHA:59303
Purine Nucleoside Phosphorylase Deficiency
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Pneumonia, Recurrent ... OMIM:613179
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis OMIM:618985
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... OMIM:600802
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Follicular hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis, Cardiomegaly, Co... OMIM:613576
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Paronychia, Chronic otitis media, Recurrent infec... ORPHA:2314
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... ORPHA:3386
Bazex Syndrome
Yellow nails, Acanthosis nigricans, Hyperkeratosis, Edema, Nail dystrophy, Pruritus, Palmoplantar... ORPHA:166113
Mevalonic Aciduria
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... OMIM:610377
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormal... ORPHA:2199
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Pancytopenia, Gener... OMIM:603553
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Conjugated hyperbilirubinemia,... OMIM:214900
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Bazex Syndrome
Pili torti, Sparse hair, Eczema, Acne inversa, Atopic dermatitis, Coarse hair, Trichorrhexis nodo... OMIM:301845
Olmsted Syndrome 2
Alopecia universalis, Cheilitis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Perioral ... OMIM:619208
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Quinquaud Folliculitis Decalvans
Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo... ORPHA:346
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Pallor, Increased hepatic ... ORPHA:263455
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... OMIM:618935
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Sparse hair, Eczema, Elevated circulating creatine kinase concentration, Synophrys OMIM:611091
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hirsutism, Hepatomegaly, Splenomegaly, Acanthosis nigricans, Ele... OMIM:613327
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Sepsis, Recur... OMIM:233600
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... OMIM:619693
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Hypereosi... ORPHA:2902
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Keratoderma Hereditarium Mutilans With Ichthyosis
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakeratosis, Alopecia, Palmop... ORPHA:79395
Proteus Syndrome
Lymphangioma, Hyperkeratosis, Splenomegaly OMIM:176920
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Skin rash, Leukopenia, Hydrops fetalis, Sepsis, Cholestasis, Abnorm... ORPHA:292
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge... OMIM:300972
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, S... ORPHA:85414
Trichothiodystrophy 5, Nonphotosensitive
Sparse hair, Brittle hair, Tiger tail banding, Decreased circulating antibody level, Recurrent in... OMIM:300953
Papillon-Lefèvre Syndrome
Periodontitis, Chronic furunculosis, Hypertrichosis, Pustule, Generalized hirsutism, Recurrent sk... ORPHA:678
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the large in... OMIM:608809
Q Fever
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... ORPHA:781
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Pal... ORPHA:2251
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Prur... OMIM:614594
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Olmsted Syndrome, X-Linked
Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopec... OMIM:300918
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Brittle hair, Patchy alopecia, Follicular hyperkeratosi... ORPHA:573
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy OMIM:619692
Hypotrichosis 6
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosi... OMIM:607903
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Keratoderma Hereditarium Mutilans
Alopecia, Hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Honeycomb palmoplantar hyperke... ORPHA:494
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Pancytopenia, Bone m... OMIM:615688
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Kid Syndrome
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Sepsis, Punctate keratitis, Onychogryposis,... ORPHA:477
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Congestive heart failure ORPHA:75564
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Joint swelling, Osteomyelitis... OMIM:609628
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections OMIM:605309
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Poems Syndrome
Increased circulating antibody level, Hypertrichosis, Leukonychia, Abnormality of skin physiology... ORPHA:2905
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart... ORPHA:77259
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Alopecia OMIM:275400
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Eczema, Ichthyosis, Microcytic anemia, Hyperkeratosis OMIM:612379
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Po... OMIM:613385
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Recurrent urinary t... ORPHA:169105
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... OMIM:615895
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Polyhydramnios, Allergic rhinitis, Pruritus, Erythroderma, Generalized... OMIM:608649
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Sparse hair, Hypohidrosis, Anhidrosis, Aplasia... OMIM:612132
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Alopecia, Sparse eyelashes, Dec... OMIM:620040
Idiopathic Trachyonychia
Nail pits, Patchy alopecia, Toenail dysplasia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Pityriasis Rubra Pilaris
Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat... ORPHA:2897
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Nail dystrophy, Palmoplantar keratoderma, Anemia, Scarring alopecia ... ORPHA:79402
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenop... ORPHA:2686
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Cirrhosis, Chronic hepatitis, Tric... OMIM:614602
Chromomycosis
Keratitis, Predominantly lower limb lymphedema, Hyperkeratotic papule, Recurrent bacterial infect... ORPHA:182
Lipoid Proteinosis
Pustule, Alopecia of scalp, Hyperkeratosis, Acne, Recurrent respiratory infections, Thickened skin ORPHA:530
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abno... ORPHA:391487
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Elevated creatine kinase after exercise, Superficial dermal perivascular inflammatory in... ORPHA:284426
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Eczema, Aplast... OMIM:617052
Aspergillosis
Keratitis, Bronchiectasis, Sinusitis, Osteomyelitis, Unusual CNS infection, Invasive pulmonary as... ORPHA:1163
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti... OMIM:120100
Noonan Syndrome 8
Left ventricular hypertrophy, Eczema, Polyhydramnios, Hyperkeratosis, Pleural effusion, Webbed ne... OMIM:615355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Abnormality of the periungual region, Severe B lymphocytopenia, Sepsis, Autoimmune thro... ORPHA:293978
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto... OMIM:615607
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Pustule, Paronychia, Onychogryposis, Erythroderma, Increased circulating IgE level OMIM:614328
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Sepsis, A... ORPHA:319218
Retinitis Pigmentosa 51
Pallor OMIM:613464
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... ORPHA:1818
Bacterial Toxic-Shock Syndrome
Sepsis, Abscess, Myocarditis, Severe viral infection, Elevated circulating creatinine concentrati... ORPHA:36234
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Schopf-Schulz-Passarge Syndrome
Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Palmoplantar keratoderma, Apocrine hi... OMIM:224750
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, Xerostomia, Trichor... ORPHA:238468
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, H... ORPHA:1304
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Dehydration, Long eyelashes, Recurrent pneumonia, Edema, Recurrent bronchiolitis OMIM:616069
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Restrictive cardiomyopathy, Skin ulcer, Jaundice ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Decreased serum complement C3, Complement deficiency, Decreased serum complement C4, A... ORPHA:567544
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive p... OMIM:608068
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Fragile nails, Ichthyosis, Hyperkeratosis, Nail dystrophy, Pruritus, Pa... OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Majeed Syndrome
Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, Congenital hypop... ORPHA:77297
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Curly hair OMIM:616638
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cronkhite-Canada Syndrome
Hypoplastic toenails, Hepatomegaly, Patchy alopecia, Alopecia, Splenomegaly, Sparse body hair, Ap... ORPHA:2930
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome