Gene Summary

Name:
GIT ArfGAP 2
Synonyms:
ARF GTPase activating protein 2,  Cat-2,  9630056M03Rik,  B230104M05Rik,  5830420E16Rik,  1500036H07Rik,  Cool associated tyrosine phosphorylated-2

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.

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.

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Git2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Git2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... OMIM:618986
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 108 With Autoinflammation
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent absces... OMIM:260570
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... OMIM:608971
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 88
Asthma, BCGosis, Eosinophilia OMIM:619630
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... ORPHA:724
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233710
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... ORPHA:169160
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... OMIM:601457
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ... OMIM:620282
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ... OMIM:212050
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... OMIM:306400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmune thromb... OMIM:614470
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Seps... ORPHA:464370
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 102
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomeg... OMIM:301082
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Rec... OMIM:615122
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... OMIM:603554
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Severe varicella zos... OMIM:615387
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... OMIM:618963
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... OMIM:613490
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... OMIM:612444
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... ORPHA:3392
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Immunodeficiency 25
Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Rec... OMIM:610163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Impaired T cell funct... OMIM:613179
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumoni... OMIM:619652
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurr... OMIM:618449
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial in... ORPHA:169090
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Asthma, Atopic dermati... OMIM:618999
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Increased ... OMIM:617021
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Hepatome... OMIM:301078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Aspergillosis
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... ORPHA:1163
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura... OMIM:619632
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Severe infectio... ORPHA:36238
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Severe infection, Splenic infarction, Hy... ORPHA:251380
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... ORPHA:77260
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Melioidosis
Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Foot osteomyelitis, Pneumonia... ORPHA:31202
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... OMIM:612649
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Lymphaden... ORPHA:39041
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
C1Q Deficiency 2
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Sepsis, Bronchiectas... OMIM:620321
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Rec... OMIM:619752
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Immunodeficiency 40
Hepatomegaly, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia... OMIM:616433
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma ORPHA:280785
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Recurrent viral infections, Splenomegaly, Respira... OMIM:609981
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Polymicrogyria, Aspiration pneumonia OMIM:609528
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:796
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, M... OMIM:607115
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, Increased circulating IgG... ORPHA:443811
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Hepatomegaly, ... OMIM:620210
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... OMIM:603909
Babesiosis
Hemolytic anemia, Hepatomegaly, Recurrent pharyngitis, Splenomegaly, Jaundice, Respiratory insuff... ORPHA:108
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia ORPHA:75563
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch... OMIM:241600
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections ORPHA:477814
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... ORPHA:79303
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... ORPHA:3132
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, R... ORPHA:829
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Abs... OMIM:615816
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ... ORPHA:2902
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... OMIM:615468
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I... OMIM:256500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col... ORPHA:37042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Severe infection, Increase... OMIM:304790
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Inva... ORPHA:158048
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Asthma, Eosinophilia, Recurrent infections OMIM:618092
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... ORPHA:100026
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen... OMIM:616050
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Meningitis, Infectious ence... ORPHA:781
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting e... OMIM:170100
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Recurrent infections, Anemia, Lymphad... OMIM:617591
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Abnormality of neuronal migration, Hepatomegaly ORPHA:2204
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Lymphadenopathy,... ORPHA:139402
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Roifman Syndrome
Eosinophilia, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Thromboc... OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop... ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... ORPHA:90045
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... OMIM:242860
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Abnormal sperm motility, Perib... ORPHA:244
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Roifman Syndrome
Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent... OMIM:616651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Invasive parasitic infect... ORPHA:400
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... ORPHA:70578
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis OMIM:228000
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, In... OMIM:301000
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy... ORPHA:391
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... ORPHA:85414
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Uveitis, Lymphadenopathy, Inflammat... ORPHA:36412
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Splenomegaly, Recurrent pharyngitis, Jaundice, Abnormal... ORPHA:549
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Cough, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, B... OMIM:620233
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... OMIM:612541
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Atopic dermatitis, Ascites, Anemia ORPHA:2070
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia... ORPHA:420741
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic in... ORPHA:2357
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Abno... ORPHA:1304
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ven... ORPHA:83317
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Simplified gyral pattern, Aspiration pneumonia,... OMIM:618253
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media... ORPHA:809
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocy... ORPHA:540
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, ... ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Spl... OMIM:612852
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cirrhosis, Recurrent infection of t... OMIM:613489
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Recurrent infections, Reduced spe... OMIM:615434
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90037
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Restrictive ventilatory defect, Art... ORPHA:575
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... ORPHA:2314
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, N... ORPHA:2552
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cough, Infectious e... ORPHA:3386
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Disseminated viral infection, Abnormal mucociliary clearance, Thro... ORPHA:90051
Poikiloderma With Neutropenia
Skin rash, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumonia, Leukopenia, ... OMIM:604173
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:617303
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... ORPHA:391487
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency