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
enlarged heart Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 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
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Corneal neovascularization, Increase... OMIM:617388
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization 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 With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... 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 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Pe... OMIM:618108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, Abnormality of humora... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... OMIM:615767
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... ORPHA:829
Immunodeficiency 8
Lymphopenia OMIM:615401
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia o... OMIM:300400
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Endocarditis, Arrhythmia, Myo... ORPHA:549
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 50
Lymphopenia, Eczema, Decreased circulating antibody level, Neutropenia, Recurrent respiratory inf... OMIM:300988
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, Failure to thr... OMIM:601457
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Skin rash, Hepatic failure, Leukopenia, Myocarditis, Abnormal... ORPHA:292
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... OMIM:619802
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Lymphopenia, Decreased circulating IgG level, Chronic oral ... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, T lym... OMIM:600802
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... ORPHA:781
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Cough, Rhinorr... ORPHA:188
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, D... ORPHA:3386
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Scrub Typhus
Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Hypotension, Cough, Infectious encephalit... ORPHA:83317
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... OMIM:607271
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thro... OMIM:616050
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... OMIM:242860
Mahvash Disease
Palpitations, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia OMIM:619290
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Hyper... ORPHA:563
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... OMIM:618254
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell recept... OMIM:602450
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... OMIM:618534
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, E... OMIM:618935
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis OMIM:610551
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating my... ORPHA:36234
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Mixed Connective Tissue Disease
Gastritis, Hepatomegaly, Skin rash, Splenomegaly, Leukopenia, Xerostomia, Mediastinal lymphadenop... ORPHA:809
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Respiratory insufficiency, Endocarditis, Arrhythmia,... ORPHA:3099
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Chylous Ascites
Pancreatitis ORPHA:1160
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 17
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... OMIM:615607
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia ORPHA:100024
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Cholesterol Pneumonia
Cough, Pneumonia, Tachypnea OMIM:215030
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Mitochondrial Complex I Deficiency, Nuclear Type 8
Respiratory insufficiency, Pancreatitis OMIM:618230
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615451
Antisynthetase Syndrome
Telangiectasia of the skin, Skin rash, Respiratory insufficiency, Xerostomia, Myositis, Myocardit... ORPHA:81
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Brucellosis
Hepatomegaly, Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee osteoarthritis... ORPHA:1304
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia, Neonatal... OMIM:608644
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytop... ORPHA:79312
Whipple Disease
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Mediastinal lymphadenopathy, Myositis, Myo... ORPHA:3452
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures ORPHA:293964
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Palpitations, Myositis, Myocarditis, Abnormal pulmonary interstiti... ORPHA:206569
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... OMIM:615294
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthr... ORPHA:158061
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Wheezing, Cough ORPHA:930
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... ORPHA:158057
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Abnormal pleura morphology, Myocardial infarction, Increased inflammatory response, ... ORPHA:183
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thy... OMIM:102700
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Situs inversus totalis, Bronchiectasis, Neonatal respiratory distress... OMIM:300991
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... OMIM:615207
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pancreatitis, Pulmonary edema, Hypotension, Vasculitis, Shock, Pneumoni... ORPHA:70578
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Insulin Autoimmune Syndrome
Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive... ORPHA:411593
Pgm3-Cdg
Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit... ORPHA:2552
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615504
Rat-Bite Fever
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... ORPHA:31205
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... OMIM:619386
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia,... OMIM:209920
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dy... OMIM:611884
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Respiratory insufficiency, Macrocytic anemia, Anemia, Thr... ORPHA:27
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Abnormality of the lymphatic system, A... ORPHA:47
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Felty Syndrome
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... ORPHA:47612
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Immunodeficiency 62
Bronchiectasis OMIM:618459
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly... OMIM:616005
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Situs inversus totalis, Recurrent pneumonia, Recurrent otitis media, Bronchi... OMIM:620032
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Acute otitis media, Sinusitis, Neutropenia in presence of anti-neutropil... ORPHA:572
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Listeriosis
Respiratory distress, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Respiratory failur... ORPHA:533
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... ORPHA:31202
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Res... ORPHA:848
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Nanophthalmos 4
Microphthalmia OMIM:615972
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess, Increased circulating IgE level OMIM:147060
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, We... ORPHA:449400
Zygomycosis
Melena, Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Hematochezia, Rhinorrhe... ORPHA:73263
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Increased cir... OMIM:618048
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Avian Influenza
Respiratory distress, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, Increased circulating ... ORPHA:454836
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615505
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocy... OMIM:603552
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections, Hypohidrosis ORPHA:363523
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Skin rash, Nonproductive cough, Maculo... ORPHA:319213
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ... ORPHA:3392
Shigellosis
Splenic abscess, Acute colitis, Leukocytosis, Hepatic failure, Hypovolemic shock, Peritonitis, Ab... ORPHA:810
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Situs inversus totalis, Chronic ... OMIM:614017
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Dextrocardia, Situs inversus total... OMIM:615482
Scleroderma
Keratitis, Myocarditis, Uveitis, Transient ischemic attack, Pericarditis, Osteomyelitis, Right ve... ORPHA:801
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat... ORPHA:381
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Pleuritis, Lupus nephritis, Malar rash, Peric... OMIM:152700
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss, Hypereosinophilia, Leukocytosis ORPHA:2902
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... ORPHA:464343
Kawasaki Disease
Cheilitis, Jaundice, Leukocytosis, Skin rash, Cervical lymphadenopathy, Double outlet right ventr... ORPHA:2331
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Abnormal aortic valve morphology, Myocarditis, Arthritis, ... ORPHA:728
Netherton Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... OMIM:256500
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Absence... OMIM:608184
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Tubulointers... OMIM:251000
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Fulminant hepatit... ORPHA:2137
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Maculopapular exanthema, Leukopenia, C... ORPHA:319218
Hereditary Chronic Pancreatitis
Abnormal enzyme/coenzyme activity, Leukocytosis, Recurrent pancreatitis, Pancreatic calcification... ORPHA:676
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... OMIM:615067
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology, Arthritis ORPHA:2582
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, De... OMIM:618495
Kikuchi-Fujimoto Disease
Hepatomegaly, Vasculitis in the skin, Cervical lymphadenopathy, Myocarditis, Lymphadenopathy, Spl... ORPHA:50918
Immunodeficiency 69
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic... OMIM:615816
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Immunodeficiency 31B
Herpes simplex encephalitis OMIM:613796
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Pleuritis, Arthritis OMIM:609939
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Propionic Acidemia
Apnea, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Propionyl-CoA carboxylase deficiency, E... OMIM:606054
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Lymphocytosis, Eosi... ORPHA:911
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, EBV encephalit... OMIM:615122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Pneumonia OMIM:614069
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Vascu... ORPHA:1572
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia ORPHA:464370
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Situs inversus totalis, Chronic sinusitis, Bronchiectasis, Recurrent res... OMIM:617092
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Lymphocytosis, Iron deficiency anemia, Thrombo... OMIM:301074
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... OMIM:616576
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pleural effusion, Pancrea... OMIM:167800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi... OMIM:307200
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arrhythmia, Vasculitis, Arthritis, Uveitis, Incr... ORPHA:727
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Decreased acid sphingomyelinase activity, Splenomegaly, Abn... OMIM:607616
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... ORPHA:97244
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Slc35A1-Cdg
Respiratory distress, Neutropenia, Pulmonary hemorrhage, Pneumonia, Giant platelets, Hypoxemia, T... ORPHA:238459
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Neonatal re... OMIM:618063
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... OMIM:618699
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase... ORPHA:480520
Macrocephaly/Autism Syndrome
Obesity, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Eczema, Pneumonia, Eczematoid dermatitis, Colitis, Osteomyelitis... ORPHA:37042
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
Graft Versus Host Disease
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, He... ORPHA:39812
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertension, Hepatomegaly OMIM:608600
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural e... ORPHA:85414
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Situs inversus totalis, Ch... OMIM:612650
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Respiratory distress, Pancreatitis, Neutrophilia, Vasculitis in the ... ORPHA:3260
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno... ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Chronic sinusitis, Ciliary dyskine... OMIM:614679
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hypotension, Hepatitis, Adreno... ORPHA:199296
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:608647
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Otiti... OMIM:613179
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Abnormal circulati... ORPHA:79124
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Hypertension, Hepatic steatosis, Cardiomy... ORPHA:90970
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells OMIM:615758
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat... OMIM:608233
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... ORPHA:449280
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Inflammatory abnormality of the skin, Hepatomegaly, Pancreatitis, Vacuolated lym... ORPHA:565612
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... OMIM:615952
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Colchicine Poisoning
Respiratory distress, Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myoc... ORPHA:31824
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Vasculitis, Arthritis, Increased circulating... ORPHA:37748
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Ventricular sep... OMIM:243150
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... OMIM:616740
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Yao Syndrome
Asthma, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctivitis sicca, ... OMIM:617321
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... OMIM:301078
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc... OMIM:617091
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Mmep Syndrome
Ventricular septal defect, Microphthalmia ORPHA:3434
Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... ORPHA:83471
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia ORPHA:157991
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventilatory defect, P... OMIM:610910
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody le... OMIM:601495
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Situs inversus totalis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent ... OMIM:613193
Systemic Sclerosis
Telangiectasia, Osteomyelitis, Intestinal bleeding, Recurrent skin infections, Raynaud phenomenon... ORPHA:90291
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Neonatal respiratory distress, Cough, Situs inversus totalis, Wheezing, Chron... OMIM:613808
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Situs inversus totalis... OMIM:613807
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci... OMIM:618213
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract i... OMIM:619446
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Telangiectases of the cheeks, Recurrent upper respiratory tract infections, Recur... OMIM:615139
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Immunodeficiency 31C
Lymphopenia, Eczema, Hypothyroidism, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anem... OMIM:614162
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Leukocytosis, Pleural empyema, Brain abscess, Myocarditis, Hemolytic... ORPHA:544482
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thr... OMIM:301080
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopapular exanthema, Hep... OMIM:619644
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, C... ORPHA:3226
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,... OMIM:611762
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Exocrine pancreatic insufficiency, Pancre... OMIM:219700
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... OMIM:612387
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:615297
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Esophagitis, Pneumonia, Upp... ORPHA:3348
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... ORPHA:507
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Neutropenia, Anemia, Cardiomyop... OMIM:604250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Graves disease, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune ... ORPHA:227982
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Respiratory... ORPHA:70587
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Lymphopenia, Pancreatitis, Impaired T cell function, Abnormal proporti... ORPHA:1830
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Neonatal Lupus Erythematosus
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Aplastic anemia, Abnormal electrophysiolo... ORPHA:398124
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Hyperthyroidism, Cirrhosis, Chronic hepatitis, Kerato... OMIM:269200
Panbronchiolitis, Diffuse
Hypoxemia, Rhonchi, Crackles, Cough, Wheezing, Bronchiectasis OMIM:604809
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi...