Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fas cell surface death receptor
Synonyms:
Tnfrsf6,  CD95,  APO-1,  TNFR6

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 Fas 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 predicted to be associated to Fas by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Lupus nephritis, Anti-dsDNA antibody positivit... OMIM:614420
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Decreased c... OMIM:613652
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec... OMIM:613779
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Recurrent infections, Herpes simplex encephalitis, Incre... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle ant... OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Persistent CM... OMIM:618495
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 4A Deficiency
Purpura, Vasculitis, Reduced circulating CH50 activity, Systemic lupus erythematosus, Glomerulone... OMIM:614380
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, C3 nephritic factor positivity, Glomerular subendothelial electron-dense dep... ORPHA:54370
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Recurrent infections, Lymphocyt... OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Anti-dsDNA ... OMIM:619375
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon... ORPHA:3261
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Spider... ORPHA:2137
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
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 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Rheumatoid factor positiv... OMIM:209950
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:329918
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Recurrent infections, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated... ORPHA:449395
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased circulat... OMIM:240500
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Decreased circulating total IgM, Absent peripheral lymph nodes in presenc... ORPHA:98813
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Abnormal intestine morphology, Splenomegaly, Abnormal blood ... ORPHA:37042
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp... ORPHA:276
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, Increased circulating IgE lev... ORPHA:277
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea... OMIM:617388
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Pneumonia, Hepatomegaly, Impaired lymphocyte transformation with phytoh... OMIM:300400
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
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
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ... OMIM:607271
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Leukocytosis, Increased ... ORPHA:37748
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormal heart morphology, Abnormality o... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Type I diabetes mellitus,... ORPHA:436159
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Chronic diarrhea, T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, Typ... OMIM:606367
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Cytoplasmic antineutro... OMIM:615934
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Reni Syndrome
Hyperpigmentation of the skin, Sensorineural hearing impairment, Focal segmental glomeruloscleros... OMIM:617575
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnormality of the... ORPHA:29073
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uv... ORPHA:1304
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Antinuclear antibody positivity, Mesangial hypercellula... OMIM:616414
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia,... OMIM:209920
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Arthritis, Decreased FOXP3-expressing T cell cou... OMIM:304790
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Increased circulating antibody level, ... ORPHA:449400
Omenn Syndrome
Pneumonia, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Chronic diarrhea, Abnormal lymphoc... ORPHA:39041
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Hyperlipidemia, Hypertension, Cerebral ischemia, Abnormal intesti... ORPHA:1830
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Lymphadenopath... ORPHA:444463
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Complete or near-complete a... OMIM:620282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreas... OMIM:102700
Hypocomplementemic Urticarial Vasculitis
Irregular hyperpigmentation, Small vessel vasculitis, Inflammatory abnormality of the eye, Sensor... ORPHA:36412
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Sepsis, Hemophagocytosis, Lymphadenopathy, Persi... OMIM:615122
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Thyroiditis, Recurrent... ORPHA:83471
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections... OMIM:615285
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encepha... ORPHA:42642
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Iga Nephropathy, Susceptibility To, 1
Purpura, Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kid... OMIM:161950
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Skin rash, Bone marrow hypocellularity, Pericarditis, S... ORPHA:829
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,... OMIM:610725
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Purpura, Anemia, Hematuria, Arthritis, Vasculitis, Proteinuria, Autoimmunity, Ren... ORPHA:375
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:301078
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage... ORPHA:91138
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
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
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Hypertension, C... ORPHA:48435
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans... ORPHA:540
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Pulm... ORPHA:809
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Tularemia
Cervical lymphadenopathy, Pneumonia, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circ... ORPHA:3392
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Nodular goiter, Increased circulating IgG4 level, Cytoplasmic antineutrophil ant... ORPHA:79078
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Immunodeficiency 20
BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i... OMIM:615707
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody ... OMIM:620632
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Chronic mucocutaneous candidiasis, T lymph... OMIM:608971
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Persistent ... OMIM:613011
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Obesity, Barrett esophagus, Lymphadenopathy ORPHA:99976
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Focal segmen... OMIM:617303
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Immunodeficiency 23
Somatic sensory dysfunction, Increased circulating IgG level, Sensorineural hearing impairment, I... OMIM:615816
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Spider hemangioma, Adenocarcinoma of the large intestine, Cholestasis... ORPHA:171
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Lupus anticoagulant, Anemia, Elevated circulat... ORPHA:231111
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG4 level, Enlarged lacrimal glands,... ORPHA:449432
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Hypocalcemia, Abnormal pitui... ORPHA:64744
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Autoimmune antibody positivity, Splenomega... ORPHA:3386
Systemic Sclerosis
Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Anti-topoisomerase I an... ORPHA:90291
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Hemophagocytosis... OMIM:619644
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Abnormal intestine ... ORPHA:391487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia... OMIM:602450
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Glomerulopathy, Lymphocytosis, Hearing impairm... ORPHA:79087
Legionnaires Disease
Myocarditis, Sepsis, Jaundice, Pancreatitis, Hematuria, Recurrent pharyngitis, Lymphadenopathy, H... ORPHA:549
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c... OMIM:619281
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural ... ORPHA:158048
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Vasculi... ORPHA:575
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Biliary cirrhosis, Leuk... ORPHA:2298
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, P... ORPHA:507
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Increase... ORPHA:470
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Al Amyloidosis
Gastrointestinal hemorrhage, Increased circulating antibody level, Gastroparesis, Abnormal autono... ORPHA:85443
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Pneumonia, Recurrent otitis media, Purpura, Lymphadenopathy, Juveni... OMIM:607944
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Diarrhea, B lymphocytopenia, Decreased circul... OMIM:612692
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Acquired Ichthyosis
Hyperkeratosis, Dry skin, Recurrent skin infections, Palmoplantar keratoderma, Autoimmunity, Rena... ORPHA:454
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Hypertension, Bone marrow hypocellularity, Aphthous ulcer, Recurrent sinusitis, Leukop... OMIM:615688
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, Granuloma, Hepatosplenomegal... OMIM:619858
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Glomerulonephritis, Myositis, Abnormal lymphocyte... ORPHA:99867
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Arthritis, Increased circulating IgA level, ... OMIM:260920
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Perinuclear antineutrophil ant... OMIM:618394
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Recurrent aphthous st... ORPHA:343
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Vertigo, Epistaxis, Splenomegaly, Ataxia, Normocytic anemia, Memory ... ORPHA:33226
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hemophagocytosis... OMIM:603553
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Skin rash, Hypertension, Sinusitis, Dysphagia, Myocarditis, Vasculitis, T... ORPHA:183
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Chronic diarrhea, Abnormal platelet fun... ORPHA:906
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Gaisböck Syndrome
Hypertriglyceridemia, Elevated plasma cell count, Hypertension, Hypernatriuria, Nephrocalcinosis,... ORPHA:90041
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Inflammatory abnormality of the skin, Antinuclear antibody positivity, Ab... ORPHA:90159
C1Q Deficiency 3
Recurrent bacterial meningitis, Discoid lupus rash, Antinuclear antibody positivity OMIM:620322
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
X-Linked Agammaglobulinemia
Chronic otitis media, Hypopigmented skin patches, Anemia, Sensorineural hearing impairment, Abnor... ORPHA:47
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph... OMIM:162000
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulatin... OMIM:619381
Igg4-Related Ophthalmic Disease
Palpebral edema, Sinusitis, Increased circulating IgG4 level, Enlarged lacrimal glands, Abnormali... ORPHA:449563
Neuromyelitis Optica Spectrum Disorder
Myelitis, Optic neuritis, Functional abnormality of the bladder, Autoimmune antibody positivity, ... ORPHA:71211
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Cognitive impairment, Increased circulating lactate dehydrogenase ... ORPHA:93552
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Autoimmune antibody positivity, Monoclonal elevati... ORPHA:555905
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocy... OMIM:607624
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, ... OMIM:603278
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Pulmonary embolism, Intestinal lymphangiectasia, Anemia, Iron deficiency ... OMIM:226300
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Steatorrhea, Ascites, Biliary cirrhosis, Splenomegaly, ... ORPHA:186
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Diarrhea, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhi... OMIM:601457
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Diffu... OMIM:615244
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Chronic diarrhea, Hypoproteinemia, Ascites, Abnorma... ORPHA:90362
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Aspergillosis
Abnormality of the kidney, Invasive pulmonary aspergillosis, Increased circulating IgE level, Men... ORPHA:1163
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Polyarticular art... ORPHA:85435
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Skin ulcer, Diffuse telangiectasia, P... OMIM:170100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly... OMIM:613179
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Immunodeficiency 32B
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Eosinophilia... OMIM:226990
Myeloma, Multiple
Paraproteinemia OMIM:254500
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Skin rash, Sinusitis, Pericarditis, Epistaxis, Oliguria, Subcutaneou... ORPHA:727
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Neutropenia in pres... ORPHA:228426
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ... ORPHA:66661
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Inappropriate antidiuretic hormone... ORPHA:99827
Galloway-Mowat Syndrome 4
Hypermelanotic macule, Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrot... OMIM:617730
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Elevated jugular venous pressure, Hepatocellular carc... ORPHA:465508
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Splenic ... ORPHA:400
Pauci-Immune Glomerulonephritis
Acute kidney injury, Purpura, Pancreatitis, Decreased glomerular filtration rate, Glomerular scle... ORPHA:93126
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopen... OMIM:152800
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Skin ulcer, Chronic diarrhea, Megaloblastic anemia, Increased... OMIM:620603
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema ORPHA:2337
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis, Decreased s... OMIM:618985
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Scrub Typhus
Myocarditis, Lymphadenopathy, Skin rash, Meningitis, Splenomegaly, Anterior uveitis, Renal insuff... ORPHA:83317
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Diarrhea, Elevated circulating a... OMIM:230400
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Autoimmune antibody positivity, Thromb... OMIM:301054
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural k... OMIM:616050
Spondyloenchondrodysplasia
Anti-dsDNA antibody positivity, Chorea, Skin rash, Hypertension, Granuloma, Decreased response to... ORPHA:1855
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Anti-smooth muscle antibody positivity, Anti-liver cytosoli... ORPHA:562639
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched me... OMIM:233600
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp... ORPHA:86893
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, High palate, Furrowed tongue, Narrow mouth, Ha... OMIM:158350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, S... OMIM:603552
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Recurren... ORPHA:169090
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Short philtrum, Chr... OMIM:613385
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Spleno... OMIM:620376
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Maculopapular exanthema, Leukocytosis, Hearing impairment, Conjunc... OMIM:191900
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Immunodeficiency 92
Recurrent oral herpes, Hepatomegaly, Cholangitis, Sclerosing cholangitis, Persistent CMV viremia,... OMIM:619652
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Diarrhea, Optic neuritis, Skin rash... ORPHA:509
Macrophage Activation Syndrome
Hypertriglyceridemia, Splenomegaly, Abnormality of tumor necrosis factor secretion, Neutropenia, ... ORPHA:158061
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Increased circulating IgG level, Leukocytosis, Diffuse peripheral... ORPHA:206594
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... OMIM:256040
Papa Syndrome
Skin ulcer, Increased circulating antibody level, Lymphadenopathy, Myositis, Arthritis, Crohn's d... ORPHA:69126
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Hypsarrhythmia, EEG with occipital epileptiform discharges, Sy... OMIM:619428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Patent foram... ORPHA:505248
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Increased circulatin... OMIM:620514
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Increased circulating interleukin 6 concentration, Lymphadenopathy, Hype... OMIM:614034
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Myelitis, Malar ... OMIM:301080
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Abnormal optic disc morphology, Increased circulating IgM level, ... ORPHA:448237
Avian Influenza
Acute kidney injury, Sepsis, Elevated circulating hepatic transaminase concentration, Myelitis, M... ORPHA:454836
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Systemic Lupus Erythematosus
Cheilitis, Chorea, Discoid lupus rash, Hypertension, Anti-Sm antibody positivity, Leukopenia, Ant... ORPHA:536
Complement Factor H Deficiency
Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos... OMIM:609814
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Lymphadenopathy, Vasculitis, Decreased circulating antibody leve... ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 12
Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Proteinuria, Conjugate... OMIM:620010
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Me... OMIM:618999
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Chronic diarrhea, Decreased circulating antibody level, Intermi... OMIM:616740
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Majeed Syndrome
Delayed puberty, Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Inflammatory abn... OMIM:609628
Amyloidosis, Familial Visceral
Hematuria, Skin rash, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Renal tubular atrophy, Proteinuria, Diffuse ... OMIM:256300
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormality... ORPHA:229717
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Infectious encephalitis ORPHA:205
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Hypertension... ORPHA:49041
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Limitation of knee mobility, Arthritis, Ulnar deviation of the ... OMIM:228000
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg... OMIM:619126
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Blau Syndrome
Polyarticular arthritis, Skin rash, Hypertension, Pericarditis, Splenomegaly, Erythema nodosum, S... ORPHA:90340
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:227982
Typhoid
Skin rash, Hepatomegaly, Splenomegaly, Infectious encephalitis ORPHA:99745
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autosomal Agammaglobulinemia
Chronic otitis media, Diarrhea, Arthritis, Abnormal pinna morphology, Skin rash, Sinusitis, Epica... ORPHA:33110
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S... ORPHA:100093
Neonatal Alloimmune Neutropenia
Sepsis, Jaundice, Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil a... ORPHA:464370
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Vasculitis... OMIM:617718
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Decreased circulating antibody level, Hypoproteinemia, Lymphedema, Lymphopenia ORPHA:1116
Congenital Enterovirus Infection
Myocarditis, Sepsis, Neutropenia, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis,... ORPHA:292
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Celiac Disease, Susceptibility To, 1
Delayed puberty, Prolonged prothrombin time, Steatorrhea, Recurrent aphthous stomatitis, Iron def... OMIM:212750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Enlarged tonsils, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Anemia, Vascular dilatation, I... ORPHA:3287
Pediatric-Onset Graves Disease
Hypertension, Thyrotoxicosis with diffuse goiter, Sinus tachycardia, Hyperhidrosis, Splenomegaly,... ORPHA:525731
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:114580
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Giant Cell Arteritis
Vertigo, Cerebral ischemia, Pericarditis, Hyperhidrosis, Epistaxis, Ataxia, Optic atrophy, Vascul... ORPHA:397
Autoimmune Hypoparathyroidism
Prolonged QT interval, Coronary artery atherosclerosis, Confusion, Chronic mucocutaneous candidia... ORPHA:36913
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Myocarditis, Increased circulating myelo... ORPHA:36234
Granulomatosis With Polyangiitis
Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Inflammatory abnormali... ORPHA:900
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Anemia, Diarrhea, Skin rash, Decreased circulating antibody lev... ORPHA:33355
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Chronic diarrhea, Myocardial eosinophilic infiltration, Angioedema, Splenomegaly... ORPHA:3260
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... ORPHA:494424
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Galloway-Mowat Syndrome 9
Gastroesophageal reflux, Low-set ears, Focal segmental glomerulosclerosis, Almond-shaped palpebra... OMIM:619603
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Coccidioidomycosis
Abnormality of the endocrine system, Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Eryth... ORPHA:228123
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a... ORPHA:90003
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Microsporidiosis
Intermittent diarrhea, Adrenocortical abnormality, Chronic diarrhea, Sinusitis, Biliary tract abn... ORPHA:2552
Severe Hemophilia A
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Epidural hemorrhage, Anemia, Cepha... ORPHA:169802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib