Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CCAAT/enhancer binding protein (C/EBP), epsilon
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cyclic Neutropenia
Peritonitis, Bone pain, Sinusitis, Cyclic neutropenia, Otitis media, Lymphadenopathy, Cervical ly... ORPHA:2686
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Felty Syndrome
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymp... ORPHA:47612
Autosomal Dominant Severe Congenital Neutropenia
Neutropenia, Pneumonia, Diarrhea, Eosinophilia, Osteopenia, Acute lymphoblastic leukemia, Recurre... ORPHA:486
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Cough, Chronic otitis media, Epicanthus, Neutropenia, M... ORPHA:33110
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Aspergillosis
Pleuritis, Bronchiectasis, Dacryocystitis, Cough, Abnormal esophagus morphology, Neutropenia, Pne... ORPHA:1163
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurren... OMIM:613501
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Recurrent bronchiolitis, Splenomegaly,... OMIM:619164
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
X-Linked Agammaglobulinemia
Skin rash, Neutropenia, Anemia, Sinusitis, Abnormality of the tonsils, Osteomyelitis, Chronic dia... ORPHA:47
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Onychomycosis, Neutropenia, Pneumonia, Maculopapu... ORPHA:228119
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abdominal pain, Abnormal pleura morphology, Cough, Respiratory in... ORPHA:724
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ch... OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Narrow pa... ORPHA:443811
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233710
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, ... OMIM:613502
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Epistaxis, Hepatomegaly, Splenomegaly,... OMIM:612840
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233690
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent fractures, O... OMIM:259710
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Abnormal natural killer cell phys... OMIM:613101
Majeed Syndrome
Skin rash, Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Bone pain, Delayed skel... OMIM:609628
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Diarrhea, Myocarditis, Sin... ORPHA:36234
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Anorexia, Pancytopenia, Thr... ORPHA:507
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Joint hypermobility, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, High palate, Recu... OMIM:618282
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Pneumonia, Anorexia, Recurrent abscess forma... ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fung... OMIM:147060
Fanconi-Like Syndrome
Pancytopenia, Recurrent lower respiratory tract infections, Multiple bilateral pneumothoraces, Os... OMIM:227850
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Shigellosis
Peritonitis, Pneumonia, Anorexia, Myocarditis, Vomiting, Bloody diarrhea, Paralytic ileus, Microa... ORPHA:810
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly,... OMIM:269840
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Neutropenia, Biliary tract abnormality, Panhypogammaglobuline... OMIM:209920
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Maculopapular Cutaneous Mastocytosis
Dyspnea, Rhinitis, Diarrhea, Nausea and vomiting, Cutaneous mastocytosis ORPHA:79457
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Eczema, Lymphadenopathy, Pulmonary fibrosis, Lymphadenitis, Acute pancreatitis, Re... OMIM:618935
Isolated Agammaglobulinemia
Sepsis, Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Malabsorption, Pne... ORPHA:229717
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Osteomyelitis, Craniosynostosis, Increased circulating IgE level, Joint hyperflexibili... ORPHA:2314
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Diarrhea, Myocarditis, Sinusitis,... ORPHA:73263
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Persistent EBV viremia, Bronchiectasis, Fo... OMIM:619126
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Flexion cont... ORPHA:77297
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Bone pain, Generalized osteosclerosis, Recurrent fractures, Anemia, Ava... ORPHA:53
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Erythroderma, Recurrent viral infections, ... OMIM:603554
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Steatorrhea, Hepat... OMIM:612714
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Abdominal pain, Leukocytosis, Abnormality of the gastrointe... ORPHA:2070
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Scedosporiosis
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pulmonary tuberculosis, Pneumonia, ... ORPHA:449280
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Knee flexion co... OMIM:604416
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Poor appetite, Osteolysis, Palmoplantar pustulosi... ORPHA:324964
Immunodeficiency 23
Joint hypermobility, Bronchiectasis, Recurrent Staphylococcus aureus infections, Neutropenia, Inc... OMIM:615816
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Generalized lymphadenopathy, Neutropenia, Abnormally low T cell receptor excision... OMIM:618986
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Decreased CD69 upregulation upon TCR activation, Chronic ac... OMIM:300853
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Hypereosinophi... OMIM:256500
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Macroglossia, Craniosynostosis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis... OMIM:618523
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Osteolysis, Respiratory distress, Periostitis, Pulmonary fibrosis, Stomatitis... OMIM:612852
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Lipemia retinalis, Splenomegaly OMIM:615947
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Abdominal pain, Leukocytosis, Pleural effusion, Orchitis, H... OMIM:249100
Coccidioidomycosis
Coccidioidal meningitis, Peritonitis, Skin rash, Pericarditis, Cough, Pneumonia, Increased circul... ORPHA:228123
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Necrotizing Enterocolitis
Peritonitis, Apnea, Leukocytosis, Neonatal sepsis, Neutropenia, Thrombocytopenia, Diarrhea, Vomit... ORPHA:391673
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Jaundice, Diarrhea, Myocarditis, Vomiting, Hepatic granulom... ORPHA:533
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia OMIM:131400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pleuritis, Pericarditis, Abdominal pain, Leukocytosis, Constipation, Uvei... ORPHA:32960
Cernunnos-Xlf Deficiency
T lymphocytopenia, Convex nasal ridge, Bulbous nose, Decreased circulating antibody level, Lympho... ORPHA:169079
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:169154
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Hurler-Scheie Syndrome
Corneal opacity, Hepatomegaly, Rhinitis, Splenomegaly, Abnormality of the tonsils, Limitation of ... ORPHA:93476
Immunodeficiency 52
Coombs-positive hemolytic anemia, Persistent EBV viremia, Autoimmune thrombocytopenia, Bronchiect... OMIM:617514
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Lymphadenitis, Severe toxoplas... ORPHA:319552
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Dacryocystitis, Thyroiditis, Pneumonia, ... ORPHA:31204
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Sinusitis, An... ORPHA:811
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci... OMIM:300400
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Lassa Fever
Skin rash, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Chemosis, Palpebral edema, Pleu... ORPHA:99824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Apnea, Chronic gastritis, Dysphagia, Neutropenia, Colitis, R... OMIM:608809
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Malabsorption, Agammaglobulinemia, Rec... OMIM:300310
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Recurrent infections, Lymphadenopathy OMIM:615387
Cryptococcosis
Peritonitis, Prostatitis, Cirrhosis, Osteolysis, Dyspnea, Respiratory distress, Pleural effusion,... ORPHA:1546
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Maculopapular exanthema ORPHA:157991
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... OMIM:608957
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615504
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Secretory diarrhea, Pancytopenia, Meningitis, Thrombocytopenia, Reduc... OMIM:616050
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Leukocytosis, Periodontitis, Rectal abscess, Recurrent bacte... OMIM:116920
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Osteoporosis, Abdominal cramps, Maculopapula... ORPHA:98848
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Recurr... OMIM:618999
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Generalized lymphadenopathy, Osteom... OMIM:615978
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Thymoma
Skin rash, Pericarditis, Thyroiditis, Cough, Abnormality of the peritoneum, Pancytopenia, Xerosto... ORPHA:99867
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Flexion contracture, ... OMIM:617591
Immunodeficiency 55
Neutropenia, Recurrent infections, Diarrhea, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Meningitis, Eosinophilia, Anemia, Hepatosplenomegaly, Lymphaden... OMIM:607115
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Chronic sinusitis, Anomalous p... ORPHA:244
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615505
Avian Influenza
Cough, Pneumonia, Diarrhea, Leukopenia, Vomiting, Ground-glass opacification, Respiratory distres... ORPHA:454836
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thrombocytopenia, ... OMIM:259700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Bloom Syndrome
Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Otitis media, Rec... ORPHA:125
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Underdeveloped nasal alae, Prominent eyelashes,... ORPHA:353298
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Decrease... OMIM:618131
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Pachydermoperiostosis
Osteoporosis, Seborrheic dermatitis, Osteolysis, Gastrointestinal hemorrhage, Eczematoid dermatit... ORPHA:2796
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE l... OMIM:610163
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Q Fever
Pericarditis, Cough, Pneumonia, Maculopapular exanthema, Anorexia, Anemia, Myocarditis, Osteomyel... ORPHA:781
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:131
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia, Agammaglobulinemia OMIM:615214
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Conjunctivitis, Recurrent aphthous stomatitis, Conjunctiva... OMIM:191900
Scleroderma
Pericarditis, Abnormality of the small intestine, Myocarditis, Pulmonary arterial hypertension, O... ORPHA:801
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE ... ORPHA:277
Roifman Syndrome
Underdeveloped nasal alae, Prominent eyelashes, Recurrent otitis media, Lymphadenopathy, Hepatome... OMIM:616651
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Pycnodysostosis
Osteolysis, Narrow palate, Abnormal pattern of respiration, Recurrent fractures, Bone pain, Hepat... ORPHA:763
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Restrictive ventilatory defect, Abdominal pain, Abnormality o... ORPHA:575
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Pneumonia, Absent specific antibody response, Diarrhea, Sinusitis, Eosi... OMIM:102700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Feeding difficulties, Epicanthus, Short palpebral fissure, Recurrent infections, Asthma, Thin eye... OMIM:618092
Hypocomplementemic Urticarial Vasculitis
Skin rash, Cough, Diarrhea, Lymphadenopathy, Uveitis, Nausea and vomiting, Airway obstruction, Ar... ORPHA:36412
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Hyperostosis, Anemia, Sinusitis, Eczema, Acute leukemia, Otitis me... ORPHA:906
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Sinusitis, Recurrent infections, Splenomegaly, Recurrent respiratory i... OMIM:226990
Gorham-Stout Disease
Cortical irregularity, Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral d... ORPHA:73
Brucellosis
Pericarditis, Pneumonia, Anorexia, Increased circulating IgG level, Leukopenia, Hypersplenism, An... ORPHA:1304
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Recurrent systemic pyogenic inf... OMIM:214500
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Eosinophilia OMIM:610247
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Abdominal ... ORPHA:90038
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Neutropenia, Pancytopenia, Lymphadenopathy, Reduced natural killer cell activity, ... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Xerostomia, Joint stiffness, Leukopenia, Myocarditis, Pulmona... ORPHA:809
H Syndrome
Abnormal eyebrow morphology, Osteolysis, Bronchiectasis, Microcytic anemia, Camptodactyly, Delaye... ORPHA:168569
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal resp... OMIM:612649
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Ery... ORPHA:39041
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Ano... OMIM:244400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Epicanthus, Pneumonia, Recurrent infections, Hi... OMIM:614069
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Cataract, Asthma, Eczema, Recu... OMIM:603165
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Bone pain, Pancytopenia, Anorexia, Pathologic fracture, Dec... ORPHA:98850
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Hepatomegaly, Diarrhea, Increased circu... ORPHA:343
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absen... OMIM:614874
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Eosinophilia OMIM:253600
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Recurrent r... OMIM:618801
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Lymphadeno... ORPHA:342
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Ch... OMIM:616005
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Extramedull... ORPHA:822
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Decreased circulating antibody level, Erythroderma, Neutropenia, Mac... ORPHA:540
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, ... ORPHA:169090
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Chronic otitis media, Absent inner and outer dynein arms, Neonatal respira... OMIM:618063
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Diarrhea, Pulmonary arterial hypertension, Eczema, Recurrent herpes,... ORPHA:391487
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Whim Syndrome
Severe periodontitis, Parotitis, Respiratory tract infection, Bronchiectasis, Recurrent upper res... ORPHA:51636
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Diarrhea, Eczema, Lymphadenopathy, Autoimmune thrombocytopenia, Recurrent upper r... OMIM:616100
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Gastrointestinal hemorrhage, Increased inflammatory respons... ORPHA:727
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Palpebral edema, Rhinorrhea, Ptosis, Rhinitis, Nau... ORPHA:157835
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Yellow Nail Syndrome
Biliary tract neoplasm, Pleuritis, Dyspnea, Bronchiectasis, Cough, Hypoplasia of lymphatic vessel... ORPHA:662
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Anorexia, Pancytopeni... ORPHA:824
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Respir... OMIM:259720
Granulomatosis With Polyangiitis
Pleuritis, Cough, Chronic otitis media, Uveitis, Elevated bronchoalveolar lavage fluid neutrophil... OMIM:608710
Chronic Recurrent Multifocal Osteomyelitis
Palmoplantar pustulosis, Bone pain, Osteomyelitis OMIM:259680
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pyoderma, P... OMIM:300755
Hereditary Folate Malabsorption
Glossitis, Megaloblastic anemia, Decreased circulating antibody level, Gastroesophageal reflux, R... ORPHA:90045
Scheie Syndrome
Corneal opacity, Hepatomegaly, Joint stiffness, Rhinitis, Splenomegaly, Limitation of joint mobility ORPHA:93474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant plate... ORPHA:238459
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Unusual skin infection... ORPHA:31202
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropen... OMIM:258360
African Iron Overload
Peritonitis, Osteoporosis, Micronodular cirrhosis, Viral hepatitis, Esophageal carcinoma, Hepatoc... ORPHA:139507
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Neuropathy, Hereditary Sensory, Type If
Osteolytic defects of the phalanges of the hand, Osteomyelitis OMIM:615632
Mycetoma
Osteoporosis, Recurrent fungal infections, Recurrent bacterial skin infections, Bone cyst, Painle... ORPHA:2583
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Acute colitis, Abnormal sputum, Gastrointestinal dysmotility, Constrictive pericard... ORPHA:67
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Cystic Echinococcosis
Bone cyst, Abnormality of the peritoneum, Jaundice, Abdominal symptom, Eosinophilia, Invasive par... ORPHA:400
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
3-Methylglutaconic Aciduria, Type Vii
Cataract, Recurrent infections, Neutropenia, Feeding difficulties OMIM:616271
Erdheim-Chester Disease
Xanthelasma, Skin rash, Osteolysis, Dyspnea, Pulmonary fibrosis, Abdominal pain, Pleural effusion... ORPHA:35687
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Cough, Respiratory failure requiring assisted ventilation, Pneumonia, Neutropenia, Ano... ORPHA:95455
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Erythroderma, ... ORPHA:139402
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Chronic diarrhea, Pneumonia, Rhinorrhea, Melena, C... OMIM:158310
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Hemophagocytosis, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122
Primary Peritoneal Carcinoma
Peritonitis, Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Pleuritis, Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Maculopapula... OMIM:142680
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Pleuritis, Abdominal pain OMIM:134610
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Chédiak-Higashi Syndrome
Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Neutropenia, Pancytopenia... ORPHA:167
Toxic Epidermal Necrolysis
Cough, Neutropenia, Anemia, Entropion, Respiratory distress, Abnormal pleura morphology, Acute he... ORPHA:537
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Dyspnea, Nausea and vomiting, Corneal erosion, Abnormality of neu... ORPHA:36426
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Stiff interphalangeal joints, Limited shoulder movement, Chro... ORPHA:39812
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myeloid leukemia, An... ORPHA:86841
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract... OMIM:615952
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Severe infection, Meningitis, Ja... ORPHA:464370
Idiopathic Hypereosinophilic Syndrome
Cough, Generalized lymphadenopathy, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, ... ORPHA:3260
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Leukopenia, Bone marrow hypoc... OMIM:615190
Hermansky-Pudlak Syndrome 2
Neutropenia, Recurrent abscess formation, Reduced natural killer cell activity, Chronic oral cand... OMIM:608233
Gaucher Disease
Arthrogryposis multiplex congenita, Corneal opacity, Bone pain, Increased bone mineral density, P... ORPHA:355
Malignant Peritoneal Mesothelioma
Peritonitis, Dyspnea, Abdominal pain, Ileus, Abdominal distention ORPHA:168811
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, ... OMIM:613496
Immunodeficiency 49
Upslanted palpebral fissure, Lymphopenia, Short palpebral fissure, Pulmonary artery stenosis, Eos... OMIM:617237
Chronic Granulomatous Disease
Chronic pulmonary obstruction, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Otiti... ORPHA:379
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Iris coloboma, Maculopapular exanthema, Thr... ORPHA:448237
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Extramedullary hematopoiesis, Decreased calvarial ossification,... ORPHA:313855
Sepsis In Premature Infants
Abnormal mucociliary clearance, Neonatal sepsis, Decreased pulmonary function, Neutropenia, Jaund... ORPHA:90051
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Foot osteomyelitis OMIM:162400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Increased circulating IgM level, Short nose, Bronchiectasis, Epi... OMIM:242860
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Dysphagia, Recurrent urinar... ORPHA:169105
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteolytic defects of the phalanges of the hand, Osteomyelitis OMIM:613115
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Osteolysis, Abdominal pain, Palmoplantar... ORPHA:793
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Gastrointestinal stroma tumor, Hemolytic an... ORPHA:1572
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Lichtenstein Syndrome
Osteoporosis, Epicanthus, Neutropenia, Synophrys, Recurrent infections, Decreased circulating IgA... OMIM:246550
Ovarian Fibroma
Peritonitis, Abdominal pain, Pleural effusion, Mesenteric cyst, Abdominal distention ORPHA:314473
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Ciliary Dyskinesia, Primary, 40
Cough, Rhinitis OMIM:618300
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Diarrhea, Anemia, Vomiting, Bilateral ptosis ORPHA:230
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Nasal po... OMIM:242680
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Fechtner syndrome
Developmental cataract, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil... OMIM:153640
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Cough, Panhypogammaglobulinemia, Abnormal natural killer ... ORPHA:79124
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Malnutrition, Spontaneous esophageal perforation, Dysphagia, Constipation, Flexion contracture, A... OMIM:226600
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Neuropathy, Hereditary Sensory, Type Id
Osteomyelitis OMIM:613708
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... OMIM:618699
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Sweet Syndrome
Inflammation of the large intestine, Pustule, Leukocytosis, Chronic lymphatic leukemia, Panniculi... ORPHA:3243
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, C... OMIM:242700
Congenital Insensitivity To Pain With Severe Intellectual Disability
Decreased corneal reflex, Corneal erosion, Recurrent fractures, Nasogastric tube feeding in infan... ORPHA:453510
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Dermatochalasis, Decreased specific antibody response to vaccination, D... ORPHA:221139
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Atopic dermatitis, Wheezing, Recurrent upper and lower respirator... ORPHA:171876
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Respiratory insufficiency, Pulmonary... OMIM:612541
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n... OMIM:169400
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Erythroderma, Delayed ossification of carpal b... OMIM:617425
Systemic Mastocytosis With Associated Hematologic Neoplasm
Bone pain, Chronic myelomonocytic leukemia, Increased susceptibility to fractures, Diarrhea, Abno... ORPHA:98849
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Perioral eczema, Anorexia, Thrombocytopenia, Nausea and vomiting... ORPHA:79242
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Refractory Anemia
Erythroid hypoplasia, Dyspnea, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic ane... ORPHA:98826
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Intestinal malrotation, Abnormal pelvis bone ossifi... OMIM:215140
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Pulmonary fibrosis, Abdominal pain, A... ORPHA:29207
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Malignant Atrophic Papulosis
Peritonitis, Intestinal perforation, Arteritis, Gastrointestinal hemorrhage, Abdominal pain, Gast... ORPHA:679
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hurler Syndrome
Camptodactyly of finger, Macroglossia, Feeding difficulties, Chronic diarrhea, Corneal opacity, W... ORPHA:93473
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Bone pain, Increased bone mineral densi... ORPHA:37748
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Bronchiectasis, Rhinorrhea OMIM:617577
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227990
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Downslanted palpebral fissures, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis OMIM:239840
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Abdominal pain, Increased circu... ORPHA:449400
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... ORPHA:231401
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur... ORPHA:1451
Autosomal Recessive Malignant Osteopetrosis
Apnea, Craniosynostosis, Recurrent fractures, Recurrent respiratory infections, Bone pain, Osteop... ORPHA:667
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cough, Nasal polyposis, Respiratory insufficiency, Sinusitis, Myocarditis, Myositis, E... ORPHA:183
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Abnormal proportion of CD4... ORPHA:133
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Feeding difficulties, Abdominal pain, Neutropenia, Anorexia, Thrombocytopen... ORPHA:79312
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Recurrent infections, Diarrhea, Recurrent aphthous... OMIM:613960
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Nausea a... ORPHA:289916
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Gaucher Disease, Type Ii
Apnea, Feeding difficulties, Protuberant abdomen, Dysphagia, Thrombocytopenia, Hepatomegaly, Anem... OMIM:230900
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Lower limb pain, Abdominal pain, Leukocytosis, Lymphadenopathy, Pharyngalgia, Splenome... OMIM:611762
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Delayed skeletal maturation, Neutropenia, Cataract, Decreased cir... ORPHA:2643
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis OMIM:614116
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Immunodeficiency 12
Osteoporosis, Delayed skeletal maturation, Recurrent viral infections, Recurrent bacterial infect... OMIM:615468
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Absent respiratory ciliary axoneme ra... OMIM:242670
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Leukocytosis, Incr... OMIM:260920
Hemochromatosis, Type 3
Cirrhosis, Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Leukopenia, Anemia, Pulmonary arterial hypertension, Stridor, Macroglossia, Incr... ORPHA:505248
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Ovarian Fibrothecoma
Peritonitis, Pleural effusion, Abdominal distention, Abdominal pain ORPHA:314478
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:155100
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Trichothiodystrophy
Craniosynostosis, Panhypogammaglobulinemia, Neutropenia, Increased bone mineral density, Anemia, ... ORPHA:33364
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Recurrent infections, Neutropenia, Anemia OMIM:617056
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Abdominal pain, Pulmonary embolism, Minimal change glom... ORPHA:567548
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Recurrent respiratory infections... ORPHA:3226
Hemorrhagic Fever-Renal Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Leukocytosis, Pleural effusion, Respiratory insuffic... ORPHA:340
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227982
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Wide nasal bridge, Conjunctivitis,... OMIM:602562
Idiopathic Achalasia
Malnutrition, Wheezing, Dysphagia, Cough, Gastroesophageal reflux, Bronchitis, Recurrent aspirati... ORPHA:930
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Neutropenia, Saccular conjunctival dilat... OMIM:180080
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Cough, Bone cyst, Generalized lymphadenopathy, Anorexia, Pancytopenia, Pulmonary ... OMIM:181000
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Abnormality of the peritoneum,... ORPHA:26790
Mirage Syndrome
Radial club hand, Lymphopenia, Gastroesophageal reflux, Recurrent urinary tract infections, Chron... OMIM:617053
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Abdominal pain, Leukocytosis,... ORPHA:829
Microcephalic Primordial Dwarfism, Toriello Type
Downslanted palpebral fissures, Delayed skeletal maturation, Neutropenia, Cataract, Decreased cir... OMIM:251190
Igg4-Related Ophthalmic Disease
Dacryocystitis, Thyroiditis, Increased circulating IgG4 level, Sinusitis, Retroperitoneal fibrosi... ORPHA:449563
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Presenile cataracts, Increased mea... ORPHA:182050
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Recurrent infections, Diar... OMIM:229050
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Onychomycosis, Recurrent sinopu... OMIM:614468
Endove Syndrome, Limb-Brain Type
Gastrojejunal tube feeding in infancy, Joint laxity, Recurrent urinary tract infections, Osteomye... OMIM:619218
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Abdominal pain, Decreased circulating antibody level, Pne... OMIM:226300
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot osteomyelitis OMIM:600882
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Corneal scarring,... OMIM:263700
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Apnea, Hepatomegaly, Conjunctivitis, Diarrhea, Splenomegaly, Vo... OMIM:253260
Systemic Sclerosis
Pericarditis, Abnormality of the small intestine, Abnormal esophagus morphology, Myocarditis, Pul... ORPHA:90291
Kawasaki Disease
Skin rash, Glossitis, Pericarditis, Abdominal pain, Leukocytosis, Cholecystitis, Cheilitis, Abnor... ORPHA:2331
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris, Recurrent infections, Recu... OMIM:612783
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Feeding difficulties, Upslanted palpebral fissure, Joint contracture o... OMIM:248910
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Gastrointestinal hemorrhage, Abd... ORPHA:2137
Dermatomyositis
Gastrointestinal stroma tumor, Pericarditis, Abnormal eyelid morphology, Pulmonary fibrosis, Diff... ORPHA:221
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Viral hepatitis, Gastrointestinal infarctions, Hepat... ORPHA:91138
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Wells Syndrome
Eosinophilia ORPHA:901
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Recurrent Staphylococcus aureus infections, Feeding difficulties, Dysph... ORPHA:642
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Hepatosplenomegaly, Di... OMIM:259730
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic hepati... OMIM:269200
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Perianal abscess, Rectovaginal fistula, Enterocolitis OMIM:612567
Alpha-Mannosidosis, Adult Form
Macroglossia, Recurrent gastroenteritis, Pneumonia, Corneal opacity, Pancytopenia, Cataract, Recu... ORPHA:309288
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Abnormality of neutrophils, Decreased circula... ORPHA:381
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency, Hip contracture,... ORPHA:97244
Infection-Related Hemolytic Uremic Syndrome
Pleuritis, Pneumonia, Diarrhea, Myocarditis, Vomiting, Bloody diarrhea, Severe viral infection, G... ORPHA:544482
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Thyroiditis, Increased susceptibility to fractures, Diarrhea, Anemia, Osteoporosis, ... ORPHA:79259
Acute Promyelocytic Leukemia
Exertional dyspnea, Leukocytosis, Abdominal pain, Neutropenia, Stomatitis, Bone pain, Pancytopeni... ORPHA:520
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Painless fractures due to injury OMIM:608654
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Respiratory tract infection, Wheezing, Dyspnea, Bron... ORPHA:60033
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Septic a... OMIM:617780
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Camptodactyly of finger, Ectropion, Dysphagia, ... ORPHA:2908
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Lymphade... OMIM:618048
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Castleman Disease
Dyspnea, Myelofibrosis, Nausea and vomiting, Abdominal pain, Abnormality of the gastrointestinal ... ORPHA:160
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Cough, Bone cyst, Jaundice, Decreased liv... ORPHA:284
3-Methylglutaconic Aciduria, Type Viii
Apnea, Feeding difficulties, Neutropenia, Cataract, Respiratory failure, Poor suck OMIM:617248
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Pulmonary infiltrates, Neutropenia, Stomatitis, Thrombocytopenia,... OMIM:246400
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Ectropion, Conjunctivitis, Keratitis, Sparse and thin eyebrow, Corneal dystrophy, B... OMIM:308800
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Lymphoproliferative Syndrome 1
Persistent EBV viremia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circu... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Cutaneous Mastocytoma
Abdominal pain, Cutaneous mastocytosis ORPHA:79455
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Corneal erosion, Ulcerative colitis, Cataract, Recurrent... OMIM:614878
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Exocrine pancreatic insufficiency, Abdominal pain, Rickets,... ORPHA:309031
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Crouzon Disease
Convex nasal ridge, Narrow palate, Iris coloboma, Choanal atresia, Respiratory insufficiency, Con... ORPHA:207
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Abdominal pain, Liver abscess, Abnormality of the pancreas, Diarrhea, A... ORPHA:54251
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis OMIM:613640
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Atelectasis, Chronic sinusitis... OMIM:300455
Developmental And Epileptic Encephalopathy 66
Neutropenia, Synophrys, Wide nasal bridge, Anemia, Downslanted palpebral fissures, Astigmatism OMIM:618067
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Villous atrophy, Panhypogammaglobulinemia, Increased mean... ORPHA:84064
Immunodeficiency 77
Recurrent tonsillitis, Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis, Gastropa... OMIM:619223
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Inflammatory Bowel Disease (Crohn Disease) 1