Gene Summary

Name:
NLR family, pyrin domain containing 1A
Synonyms:
Nalp1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Human diseases caused by Nlrp1a 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 Nlrp1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Increased circulating IgG ... OMIM:617388
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
Respiratory Papillomatosis, Juvenile Recurrent, Congenital
OMIM:618803
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
OMIM:606579

The table below shows human diseases predicted to be associated to Nlrp1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Failure to ... OMIM:269840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F... ORPHA:277
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory i... OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphadenopathy, Hypotension, Pericar... ORPHA:549
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, Eczemat... OMIM:608971
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Pleural effusion, Leukocytosis, C... ORPHA:292
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased circulating total IgM, Decreased proportion of CD8-positiv... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymph... ORPHA:829
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Abnormal immunoglobulin level, Decreas... ORPHA:276
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Hypotension, Pericard... ORPHA:188
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Caspase 8 Deficiency
Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ... OMIM:607271
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c... OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Reduced natural killer cel... OMIM:242860
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Skin rash, Cardiomyopathy, ... ORPHA:3386
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Palpitations, Recurrent pancreatitis OMIM:619290
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Scrub Typhus
Myocarditis, Lymphadenopathy, Skin rash, Hypotension, Hyperhidrosis, Splenomegaly, Anterior uveit... ORPHA:83317
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia, Splenomegaly, ... OMIM:615285
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis OMIM:610551
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Panniculitis, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Keratoconjunctivitis sicca... ORPHA:809
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Dextrocardia, Recurrent lower respiratory tract infections, Bronchiectasi... OMIM:618254
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro... OMIM:613021
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum... ORPHA:36234
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Arthritis, Abnormal heart v... ORPHA:3099
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Chylous Ascites
Pancreatitis ORPHA:1160
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased lym... OMIM:606367
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, N... OMIM:226990
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hypertension, Hepatomegaly, Pancreatitis ORPHA:79084
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis OMIM:211400
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme... OMIM:245480
Brucellosis
Bronchitis, Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, M... ORPHA:1304
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Skin... ORPHA:206569
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Agammaglobulinemia, Sinusitis, Conjunctivitis, Bronch... ORPHA:33110
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Arthriti... ORPHA:81
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Recurrent pn... OMIM:615207
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Myocardial infarction, Mediastina... ORPHA:3452
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... OMIM:618805
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia ORPHA:293964
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level... OMIM:243700
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Neutropenia OMIM:616022
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia,... OMIM:209920
Rat-Bite Fever
Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Anemia, Pancreatitis, Arthritis, Skin ... ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myocardial infarction, Myositis, Arthritis, Skin rash, Hyp... ORPHA:183
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormality of th... ORPHA:47
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating... ORPHA:69663
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Situs inversus totalis, Pneumonia, Recurrent otitis media, Chronic rhinitis... OMIM:612444
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... OMIM:619386
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ... OMIM:613101
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... OMIM:304790
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Ar... ORPHA:47612
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi... OMIM:300755
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent resp... OMIM:300991
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Thrombocytopenia, Leukopenia ORPHA:27
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Failure to thrive, Decreased ... OMIM:615758
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ... ORPHA:572
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss ORPHA:2902
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Recurrent upper respiratory tract infections OMIM:620137
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Bronchi... OMIM:620032
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Increased circulating lactate dehydrogenase conc... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Recurrent respiratory infections, Hepatitis ORPHA:363523
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Jaundice, Splenic abscess, Con... ORPHA:533
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Lymphade... OMIM:616100
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Elevated circulating hepatic transaminase concentration, Bradycardia, S... ORPHA:319213
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocy... OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... OMIM:603552
Congenital Syphilis
Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Rhini... ORPHA:499009
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Failure to t... OMIM:618048
Shigellosis
Myocarditis, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Leukocytosis, Hepatic failur... ORPHA:810
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Loeffler Endocarditis
Left atrial enlargement, Myocardial eosinophilic infiltration, Abnormal morphology of the chordae... ORPHA:75566
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:2137
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent ... OMIM:615451
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Bronchiectasis, Recurrent re... OMIM:608644
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Angina pectoris, Arthritis, Abnormal heart valve morphology, ... ORPHA:464343
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Fa... OMIM:612782
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Systemic Lupus Erythematosus
Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti... OMIM:152700
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Failure to thrive, Splenomegaly, De... OMIM:618495
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hereditary Chronic Pancreatitis
Jaundice, Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcifi... ORPHA:676
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ... ORPHA:50918
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615504
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Pleuritis OMIM:609939
Tularemia
Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly... ORPHA:3392
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res... OMIM:307200
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Vasculitis, Hypotension, Pneumonia, Shock ORPHA:70578
Immunodeficiency 31B
Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... ORPHA:911
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Acute pancreatitis, Th... ORPHA:319218
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Wilson Disease
Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:905
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Malignant Atrophic Papulosis
Pleural effusion, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Propiony... OMIM:606054
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Kawasaki Disease
Myocarditis, Congestive heart failure, Cheilitis, Abnormal pulmonary interstitial morphology, Jau... ORPHA:2331
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Arthritis, Skin rash, Vascul... ORPHA:727
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Avian Influenza
Pneumothorax, Congestive heart failure, Elevated circulating hepatic transaminase concentration, ... ORPHA:454836
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Pleural effusion, Exocrine pancreatic insufficiency, Pancrea... OMIM:167800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ... ORPHA:294
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encepha... ORPHA:42642
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Leukopenia, Splen... OMIM:620210
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Recurre... ORPHA:1572
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Bronchiectasis, R... OMIM:614679
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly... ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... OMIM:607765
Microlissencephaly
Pneumonia ORPHA:1083
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Leukopenia, ... OMIM:251000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Congenital Isolated Acth Deficiency
Hypotension, Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotrop... ORPHA:199296
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Recurrent pneumonia, Bronchiectas... OMIM:617092
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Acute pancreatitis OMIM:608600
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615505
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Elevated circulating hepatic transaminase concent... OMIM:214950
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud ... OMIM:301080
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Situs inversus totalis, Pulmonary insufficiency, Chronic rhinitis, Bronchie... OMIM:614017
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia, Cor pulmonale OMIM:247610
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Erysi... OMIM:214900
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Vasculitis, Leukocytosis, Increased ... ORPHA:37748
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Generalized Eruptive Histiocytosis
Leukemia, Elevated total serum tryptase, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... OMIM:614868
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Acute pancreatitis, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon... OMIM:615482
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... OMIM:615139
Yao Syndrome
Pleuritis, Arthritis, Skin rash, Xerostomia, Ventricular hypertrophy, Pericarditis, Inflammatory ... OMIM:617321
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Angina pectori... ORPHA:565612
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... OMIM:301078
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis OMIM:615872
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level OMIM:616069
Systemic Sclerosis
Myocarditis, Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Arthritis, Gast... ORPHA:90291
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Primary hypothyroidism, Lymphopenia, Thyroiditis, Patent foramen ovale, Pulmonary arterial hypert... ORPHA:391487
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,... OMIM:611762
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Cholestasis, Ascites,... ORPHA:171
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Bronchiect... OMIM:615481
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Hypertension, Leukocytosis,... ORPHA:544482
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon... OMIM:611884
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,... ORPHA:31824
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, Cardiomyop... OMIM:604250
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Abnormality of thyroid physiology, Ischemic stroke, Anemia, Pancreatiti... ORPHA:1830
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Abnorma... ORPHA:33355
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Neonatal Lupus Erythematosus
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, ... ORPHA:398124
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatome... ORPHA:79303
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,... OMIM:603554
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Vasculitis, Leukocytosis, Ascites... ORPHA:342
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... OMIM:269200
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi... ORPHA:79083
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... ORPHA:228426
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, ... ORPHA:2348
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... ORPHA:3226
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Infectious encephalitis ORPHA:205
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Interstitial Lung Disease 1