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Gene: Ifih1 MGI:1918836

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Gene Summary

Name:
interferon induced with helicase C domain 1
Synonyms:
9130009C22Rik,  MDA-5,  Helicard,  MDA5

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating magnesium level Ifih1em1(IMPC)Wtsi HOM Early adult 1.83×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Ifih1 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 Ifih1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hepatomegal... OMIM:615846
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Short stature, Chilblains, Autoimmunity, Neonatal alloim... ORPHA:51
Singleton-Merten Syndrome 1
Recurrent respiratory infections OMIM:182250

The table below shows human diseases predicted to be associated to Ifih1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... OMIM:613496
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulatin... ORPHA:98813
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibo... ORPHA:397596
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... ORPHA:567544
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemi... OMIM:616005
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... OMIM:618495
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positiv... OMIM:615934
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, I... OMIM:300635
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Increased circulating IgM level, A... ORPHA:37748
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... OMIM:613953
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly... OMIM:300988
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... ORPHA:449400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level... OMIM:243700
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count, S... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... ORPHA:169160
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Splenome... OMIM:614470
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchie... OMIM:240500
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer... OMIM:618394
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, A... OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, A... ORPHA:99867
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie... ORPHA:37042
C1Q Deficiency 3
Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration OMIM:620322
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Increased... ORPHA:83313
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev... OMIM:212050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Short s... ORPHA:47
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Growth de... OMIM:615767
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytop... ORPHA:169079
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Eczema, Oligoarthritis, Growth delay, Decreased circulating total IgM, T lymphocytop... OMIM:619510
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Growth delay, B lymphocytop... OMIM:301078
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Short s... OMIM:620210
Zika Virus Disease
Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Increased circulating IgM level, ... ORPHA:448237
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... OMIM:617780
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Increased circulating I... OMIM:618282
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... OMIM:614699
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocyt... OMIM:242860
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Autoimmunity, Increased circulating IgA level, Antinuclear antibody positiv... ORPHA:2298
Immunodeficiency 22
Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculi... OMIM:615758
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Immunodeficiency 96
Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, ... OMIM:619774
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M... ORPHA:1830
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B... OMIM:614069
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... OMIM:102700
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa... OMIM:269840
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating specific IgE ... ORPHA:74
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Trichothiodystrophy 3, Photosensitive
Short stature, Increased circulating IgA level, Neutropenia, Intrauterine growth retardation, Lym... OMIM:616395
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Systemic Lupus Erythematosus 17
Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst... OMIM:301080
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Recurrent skin infections, Decreased circulating antibody level, Growth delay, Int... OMIM:617744
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hemolytic anemia,... OMIM:606367
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... ORPHA:2902
Galloway-Mowat Syndrome 2, X-Linked
Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... ORPHA:227990
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Increased circulating... ORPHA:100024
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Ne... OMIM:615952
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... OMIM:209920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Thrombocytopenia, Decreased circulating antibody level, Leukop... OMIM:618116
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Leukopenia, Renal fibrosis, Decreased glomerular filtration rate, H... ORPHA:470
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... OMIM:618985
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circula... OMIM:617303
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim... ORPHA:227982
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Growth delay, Arthritis, Recurrent ap... ORPHA:343
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... ORPHA:171
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre... ORPHA:381
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev... ORPHA:48377
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ... ORPHA:536
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Autoimmunity, Eosinophilia, R... ORPHA:449432
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Pruritus, Increased circulating IgE level, Erythroderma OMIM:270300
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv... ORPHA:3392
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... OMIM:170100
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... ORPHA:79087
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... OMIM:618986
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ... ORPHA:33355
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ... ORPHA:829
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Incr... OMIM:300291
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... OMIM:616740
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ... ORPHA:83471
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Splenomegaly, Abnormal natural killer cell physiolo... OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Short stature, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... OMIM:215250
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, P... OMIM:307200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature, Bronchiectasis OMIM:615139
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Abnormality ... ORPHA:29073
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Nephrotic Syndrome, Type 17
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematur... ORPHA:319251
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Short stature, Autoimmunity, Portal hypertension, Hypersplenism, Sple... OMIM:613385
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Short stature,... ORPHA:391487
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Abnormality... ORPHA:229717
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... OMIM:608971
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Short stature, Elevated circulating C-reactive protein concentration, Re... OMIM:616050
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Roifman Syndrome
Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Recurrent pneumonia, Decreased... ORPHA:353298
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Leukocytosis, Abnormal lactate dehydrogenase level, Bone ma... ORPHA:98827
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Abnormality of the kidney, Keratitis, Increase... ORPHA:1163
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Short stature,... OMIM:618935
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Short stature, Eczema, Proteinuria, Minimal change glomerulonephriti... OMIM:618348
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu... ORPHA:69126
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenis... ORPHA:228426
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia, Abnormality of the kidney ORPHA:284227
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... ORPHA:101330
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin... OMIM:256500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating... OMIM:602450
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Lassa Fever
Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria ORPHA:99824
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... OMIM:616744
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Impaired T... OMIM:613179
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar... OMIM:615190
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal... OMIM:614376
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Increased proportion of... ORPHA:98848
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, Splenome... OMIM:603552
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp... OMIM:617591
Tick-Borne Encephalitis
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Thrombocyto... ORPHA:297
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... ORPHA:99829
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta... ORPHA:2968
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... ORPHA:292
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Growth delay, Decreased c... ORPHA:90362
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Increased ... ORPHA:505248
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Recurrent pneumonia... OMIM:614379
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T ly... OMIM:242700
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Growth delay, Anemia ORPHA:100025
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449563
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Erythroderma, Abnormal lymph... ORPHA:3162
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc... ORPHA:90363
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... ORPHA:47612
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Elevated circulating ... ORPHA:90291
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom... ORPHA:77259
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E... ORPHA:549
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Eczema, Postnatal growth retarda... OMIM:212750
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level ORPHA:89843
Netherton Syndrome
Skin rash, Eczema, Short stature, Ectopic kidney, Increased circulating IgE level, Decreased circ... ORPHA:634
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... ORPHA:221139
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... ORPHA:275555
Lambert Syndrome
Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody level, Intrahepatic biliary at... ORPHA:1296
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S... ORPHA:905
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre... OMIM:610377
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop... OMIM:615387
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... ORPHA:90060
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder ORPHA:2571
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Short stature, Elevated circulating alph... OMIM:208900
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... ORPHA:91500
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hepatomegal... OMIM:615846
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic ... ORPHA:398124
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Chroni... ORPHA:2314
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Bloom Syndrome
Elevated hemoglobin A1c, Postnatal growth retardation, Bronchiectasis, Malar rash, Growth delay, ... OMIM:210900
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Omenn Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroi... ORPHA:39041
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Circulating immu... ORPHA:91138
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains OMIM:610448
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating ferritin concentration, Panniculi... OMIM:618398
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo... OMIM:601495
Acquired Ichthyosis
Pruritus, Renal insufficiency, Recurrent skin infections, Autoimmunity ORPHA:454
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... ORPHA:1572
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Anuria, Protein... ORPHA:340
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level, Infectious e... ORPHA:79139
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Severe short stature, Autoimmunity, Knee osteoarthritis, Hip ost... ORPHA:2619
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive... ORPHA:79099
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... ORPHA:1578
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Hypotrichosis Simplex Of The Scalp
Pruritus, Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurren... OMIM:619750
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... ORPHA:2035
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocytopenia, Bronchiecta... OMIM:620184
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D... OMIM:612301
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... OMIM:603553
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic micr... ORPHA:440713
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... ORPHA:169105
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypospadias... ORPHA:79324
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... OMIM:615010
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Lead Poisoning
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Chronic kidney disea... ORPHA:330015
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Cheilitis, ... ORPHA:90045
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Autoimmunity, Pruritus, Abnormality of the pancreas, Pr... ORPHA:69665
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Renal insufficiency, Abnormality of neutrophil... ORPHA:33226
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Autoimmunity, Protein... ORPHA:36412
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Myeloma, Multiple
Paraproteinemia OMIM:254500
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... OMIM:620005
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Macroscopic hematuria, Epis... ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... ORPHA:77297
Dyskeratosis Congenita, Digenic
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... OMIM:620040
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Linear Iga Dermatosis
Pruritus, Renal neoplasm, Inflammation of the large intestine, Autoimmunity ORPHA:46488
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Smith-Kingsmore Syndrome
Rhizomelia, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syn... OMIM:212065
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... OMIM:609939
Overlap Myositis
Elevated hepatic transaminase, Autoimmunity, Elevated circulating creatine kinase concentration, ... ORPHA:206572
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Erythroderma,... OMIM:617425
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Thrombocytopenia, ... OMIM:242900
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... OMIM:614377
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... ORPHA:31202
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... ORPHA:90036
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation OMIM:614171
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:614921
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... ORPHA:436252
Caffey Disease
Increased circulating antibody level ORPHA:1310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Abnormal lymphocyte morphology ORPHA:2584
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Jaundic... OMIM:613404
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon... ORPHA:293978
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter, Short stature ORPHA:3409
Dermatitis Herpetiformis
Pruritus, Autoimmunity, Eczema, Microcytic anemia ORPHA:1656
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Rhizomelia, Recurrent pneumonia, Decreased circulating total IgM, Micropenis, Decrea... OMIM:607143
Riddle Syndrome
Short stature, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumon... ORPHA:420741
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Roifman Syndrome
Hepatomegaly, Short stature, Eosinophilia, Eczema, Postnatal growth retardation, Splenomegaly, Re... OMIM:616651
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Recurrent oti... OMIM:605309
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Icf Syndrome
Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... OMIM:242840
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Short stature, Elevated circulating C-rea... ORPHA:355
Dubowitz Syndrome
Aplastic anemia, Eczema, Hypospadias, Short stature, Postnatal growth retardation, Acute lymphobl... OMIM:223370
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Encephalitis Lethargica
Urinary incontinence, Increased circulating antibody level, Autoimmunity ORPHA:83600
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Autoimmunity, Eosinophilia, Hepatitis, Hashimoto thyroiditis ORPHA:199299
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the ur... ORPHA:2552
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:613327
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... OMIM:606056
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Nephrotic... ORPHA:575
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Pa... ORPHA:811
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protein conce... ORPHA:247353
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Hypoalb... OMIM:226300
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo... ORPHA:85443
Nail-Patella Syndrome
Renal insufficiency, Short stature, Glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:161200
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Say-Barber-Miller Syndrome
Short stature, Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased ci... ORPHA:3132
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Eosinophilia, Glom... ORPHA:183
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A... ORPHA:51636
Vici Syndrome
Decreased circulating IgG level, Short stature, Ureteral atresia, Renal tubular acidosis, Decreas... ORPHA:1493
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... ORPHA:2686
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Hepatomegaly, Myoca... ORPHA:809
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholan... ORPHA:3260
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... ORPHA:83617
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Autoimmunity, Keratitis, Splenomegaly,... ORPHA:525731
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... OMIM:251260
Zygomycosis
Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, Gastritis, Brain abscess, Renal insuf... ORPHA:73263
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni... ORPHA:90033
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Antinuclear antibody positivity, P... OMIM:613471
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ... ORPHA:562
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Homocitrullinuria, Decreased liver function, Hepatomegaly OMIM:238970
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positiv... OMIM:607944
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Short stature, Hyp... OMIM:606054
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Trichohepatoenteric Syndrome 2
Hepatomegaly, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth retardation OMIM:614602
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Decreased circulating IgA level ORPHA:457485
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... ORPHA:88
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Short stature, Splenomegaly, Recur... OMIM:604173
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa... ORPHA:167
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Lymphopenia, Maculopapular exanthem... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Myocarditis, Leukocytosis, Jaundice, Hepatitis, Cheilitis, ... ORPHA:2331
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Growth delay, Increased... ORPHA:77261
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Infectious en... ORPHA:3386
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening... ORPHA:508542
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Autoimmunity, Splenomegaly ORPHA:56425
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Autoimmune ... ORPHA:206569
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Eczema, Decreased circulating total IgM, Elevated circulating alka... OMIM:618162
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Short stature,... OMIM:225750
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Dengue Fever
Hepatomegaly, Skin rash, Pruritus, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... ORPHA:83597
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure OMIM:177000
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i... OMIM:203800
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein con... OMIM:612852
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Pruritus, A... ORPHA:324636
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Chronic otitis media, Thro... ORPHA:169090
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... ORPHA:79329
Lichen Planopilaris
Pruritus, Hepatitis ORPHA:525
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c... ORPHA:50918
Antisynthetase Syndrome
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Autoimmunity, Pruritus, ... ORPHA:81
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Pruritus, Cheilitis, Hepatitis, Hematuria ORPHA:1334
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Elevated ... ORPHA:319213
Trichothiodystrophy 5, Nonphotosensitive
Intrauterine growth retardation, Micropenis, Chronic decreased circulating IgG1, Short stature OMIM:300953
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Elevated circu... ORPHA:900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Poems Syndrome
Polycythemia, Thrombocytosis, Increased circulating antibody level, Abnormality of skin physiology ORPHA:2905
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Low alkaline phosphatase OMIM:201100
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Short stature, Erythroderma OMIM:601675
Scleromyxedema
Pruritus, Paraproteinemia, Elevated circulating creatine kinase concentration, Abnormality of the... ORPHA:167635
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pustule, Pruritus, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Familial Benign Copper Deficiency
Short stature, Acne, Anemia ORPHA:1551
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, ... ORPHA:2237
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Growth delay, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Pancreatic steatosi... OMIM:617052
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Bronch... OMIM:181000
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Short stature, Meg... OMIM:277380
Acquired Purpura Fulminans
Thrombocytopenia, Hepatic failure, Skin rash, Elevated circulating C-reactive protein concentration ORPHA:49566
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Increased urinary glycerol, Elevated circ... ORPHA:247598
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Renal cyst, Hypercalciuria, Nephrocalcinosis, Decreased circulating tot... ORPHA:369837
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Growth delay,... ORPHA:79284
Mucopolysaccharidosis Type 7
Splenomegaly, Mucopolysacchariduria, Hepatitis ORPHA:584
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Ke... ORPHA:79128
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype... ORPHA:509
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Decreased circulating antibody level, Growth delay, Hypoalbuminemia, A... ORPHA:79396
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Congenital Analbuminemia
Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level ORPHA:86816
Hennekam Syndrome
Mild postnatal growth retardation, Ectopic kidney, Splenomegaly, Horseshoe kidney, Decreased circ... ORPHA:2136
Monosomy 18Q
Growth delay, Micropenis, Short stature, Decreased circulating IgA level ORPHA:1600
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Otitis ... ORPHA:379
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Pa... ORPHA:79086
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Arthritis, Kerato... OMIM:617321
Viss Syndrome
Chronic gastritis, Short stature, Eczema, Increased circulating IgE level, Hypereosinophilia, Ato... OMIM:619472
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Hypospadias, Eczema, Proportionate short stature, Atopic dermatitis, Recurrent otit... OMIM:620331
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Short stature, Chilblains, Autoimmunity, Neonatal alloim... ORPHA:51
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Peritonitis, Systemic lupus erythemato... ORPHA:1546
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
22Q11.2 Deletion Syndrome
Acne, Autoimmunity, Impaired T cell function, Seborrheic dermatitis, Hypospadias, Splenomegaly, S... ORPHA:567
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... ORPHA:93672
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Decreased liver function,... ORPHA:415
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Ele... ORPHA:26793
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... ORPHA:64
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... ORPHA:373
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Elevated circulating C-reactiv... ORPHA:70591
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Allergic rhinitis, Impaired T cell function, Short stature, Allergic conjunctivitis,... OMIM:176690
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepati... OMIM:619991
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, ... OMIM:188400
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit... ORPHA:342
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... OMIM:612132
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ... ORPHA:556
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Severe infection, Severe viral ... ORPHA:544482
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Occipital Horn Syndrome
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph... ORPHA:198
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... ORPHA:797
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria ORPHA:2483
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Abnormal p... ORPHA:95455
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Velocardiofacial Syndrome
Short stature, Impaired T cell function OMIM:192430
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin OMIM:610768
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Bilateral renal dysplasia, Unilateral renal agenesis, Proportionate short sta... ORPHA:500150
Singleton-Merten Syndrome 1
Recurrent respiratory infections OMIM:182250

Histopathology

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

There is no histopathology data for Ifih1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ifih1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ifih1em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Ifih1tm34460(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ifih1em1(IMPC)Wtsi Point Mutation Mice
Ifih1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ifih1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ifih1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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