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Gene: Hmgn5 MGI:1355295

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
high-mobility group nucleosome binding domain 5
Synonyms:
Nsbp1,  nucleosome binding protein 45,  NBP-45,  GARP45

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Hmgn5 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 Hmgn5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... ORPHA:60033
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased circulating IgG2 lev... OMIM:615897
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Sarcoidosis, Susceptibility To, 2
Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... OMIM:300400
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... OMIM:617638
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... OMIM:618982
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Leukocytosis, Hypereosinophilia, Increa... ORPHA:2902
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Hypophosphatasia
Anemia, Emphysema, Respiratory insufficiency ORPHA:436
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Asthma, Recurrent pneumonia, Increased circulating IgE level, Br... OMIM:619752
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... ORPHA:98826
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... OMIM:618048
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Increased circulating IgE level, Recurrent upper respiratory trac... ORPHA:277
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Increased circulating IgA level, Tachypnea, Leukopenia, Increas... OMIM:615934
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... OMIM:614699
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Partial absence of s... OMIM:618986
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... OMIM:618394
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Asthma, Increased circulating IgE level, T lymphocyt... ORPHA:217390
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... ORPHA:723
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgA lev... ORPHA:2298
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... OMIM:605258
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:618969
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... OMIM:617241
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Asthma, Recurrent pneumonia, Increased circulat... OMIM:243700
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Netherton Syndrome
Recurrent respiratory infections, Asthma, Increased circulating IgE level, Decreased circulating ... ORPHA:634
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on the sur... OMIM:301000
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Splenomegaly, Restrictive ventilatory defect, Pleural effusion, Cough, Complement defici... ORPHA:36412
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Bron... OMIM:616005
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis,... OMIM:240500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... OMIM:611926
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Reduced natural killer cell co... OMIM:615214
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Panhy... OMIM:269840
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increase... OMIM:209950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:615767
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of naive T cells, Pneumonia, Abnormal immun... ORPHA:276
Aspergillosis
Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality o... ORPHA:1163
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... ORPHA:436159
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly... ORPHA:169160
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent upper and lowe... OMIM:608106
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, Decreased c... OMIM:619510
X-Linked Sideroblastic Anemia
Splenomegaly, Dyspnea, Anemia, Glucose intolerance ORPHA:75563
Immunodeficiency 92
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... OMIM:619652
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... OMIM:616100
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Chronic n... OMIM:614700
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Bronchiectasis, Decreased circulating antibod... OMIM:618108
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Recurrent respiratory infections, Increased circulating IgE level, Bronchiectasis OMIM:618523
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal p... OMIM:181000
Wolfram-Like Syndrome
Glucose intolerance, Diabetes mellitus, Respiratory insufficiency ORPHA:411590
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decreased circulating antibody... OMIM:616740
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Chronic pulmonary obstruction, R... OMIM:616576
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Diabetes mellitus, Sinusitis, Dy... ORPHA:169105
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusit... OMIM:102700
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... ORPHA:284227
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... OMIM:300310
Immunodeficiency, Common Variable, 10
Hypoglycemia, Asthma, Recurrent pneumonia, Recurrent viral upper respiratory tract infections, De... OMIM:615577
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Thrombocytopenia, Leukocytosis, Increased circula... ORPHA:3392
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... OMIM:615559
Igg4-Related Aortitis
Increased circulating IgG4 level, Asthma, Increased circulating IgE level, Hypereosinophilia, Inc... ORPHA:449400
Agammaglobulinemia, X-Linked
Wheezing, Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, T lymphocytopenia, Decreased c... OMIM:300755
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... OMIM:242860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Sterile abscess, Bronchiecta... OMIM:618282
Aregenerative Anemia
Pancytopenia, Fatigable weakness of skeletal muscles, Dyspnea, Erythroid hypoplasia, Reticulocyto... ORPHA:101096
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia... OMIM:618495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, Re... OMIM:602450
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Chilblain Lupus
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Allergic rhinitis, Eosinophilia, Abscess, Ast... OMIM:615816
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level OMIM:616069
Netherton Syndrome
Recurrent respiratory infections, Allergic rhinitis, Asthma, Increased circulating IgE level, Hyp... OMIM:256500
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Abnormal ... ORPHA:572
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... ORPHA:507
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Neutropenia OMIM:616022
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D... OMIM:615758
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:90362
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia ORPHA:70592
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Selective Igm Deficiency
Paraproteinemia, Decreased proportion of transitional B cells, Decreased proportion of CD3-positi... ORPHA:331235
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Ataxia-Telangiectasia
Decreased circulating IgG level, Diabetes mellitus, Sinusitis, Recurrent bronchitis, Decreased ci... OMIM:208900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... OMIM:615952
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Boutonneuse Fever
Leukopenia, Respiratory failure, Increased circulating IgG level, Increased circulating IgM level... ORPHA:83313
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Splenomegaly, Leukopenia, Decr... OMIM:620210
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Nocardiosis
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Nonproductive co... ORPHA:31204
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia ORPHA:171442
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 67
Transient neutropenia, Liver abscess, Increased circulating IgE level OMIM:607676
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory in... OMIM:613658
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Increased circulating IgE level, Cough ORPHA:2314
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Prolidase Deficiency
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Increased circ... OMIM:170100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Hepatosplenomegaly, Decreased circ... ORPHA:79330
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemophagocytosis, ... OMIM:301078
Ebola Hemorrhagic Fever
Dyspnea, Leukopenia, Increased circulating antibody level, Cough, Lymphopenia, Thrombocytopenia ORPHA:319218
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Cough, Bronchiectasis, Agammaglobulinemia, Neutropenia ORPHA:33110
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
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
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Lymphopenia, Interstitial emphysema, Bronchiectasis OMIM:619708
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Pneumoni... ORPHA:125
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... ORPHA:88
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Sarcoidosis
Hemolytic anemia, Eosinophilia, Abnormal pleura morphology, Dyspnea, Increased T cell count, Pneu... ORPHA:797
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Reduced forced expiratory volume in one second, H... OMIM:613385
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:79312
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Diabetes mellitus, Liver abscess, Pneumonia, Allergic rhinitis,... ORPHA:183675
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Impaired glucose tolerance, Increased circulat... OMIM:256040
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Lead Poisoning
Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy... ORPHA:330015
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Decreased ... OMIM:210900
Felty Syndrome
Recurrent respiratory infections, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia,... ORPHA:47612
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Emphysema, Anemia ORPHA:324
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema ORPHA:357074
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Decreased lymphocyte proliferation in response to anti-CD3, Abnorm... ORPHA:221139
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Hypoglycemia, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Recurrent upper and lower respiratory tract infecti... ORPHA:275
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Autoimmune hemolytic anemia, Pneumonia, A... ORPHA:37042
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... ORPHA:486
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Abnormal lung morphology, Rec... ORPHA:47
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Acute respiratory distress syndrome, Severe B ... OMIM:620005
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Letterer-Siwe Disease
Dyspnea, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2962
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia ORPHA:289
Propionic Acidemia
Pancytopenia, Apnea, Hypoglycemia, Thrombocytopenia, Tachypnea, Neutropenia, Anemia OMIM:606054
Poems Syndrome
Diabetes mellitus, Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ... ORPHA:2905
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocy... ORPHA:520
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hemochromatosis, Type 4
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance, Anemia OMIM:606069
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypoglycemia, Recurrent pneumonia, Recurrent upper respiratory tract infect... OMIM:607143
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent upper respiratory tract infections, B... OMIM:614868
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary interstitial morp... ORPHA:77259
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Postinfectious Vasculitis
Pneumonia, Increased circulating IgA level, Abnormality of humoral immunity, Increased circulatin... ORPHA:48435
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... OMIM:618213
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... ORPHA:90349
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Neonatal hypoglycemia, Decreased circulating IgA level ORPHA:457485
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hypoglycemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Erythrocytosis, Familial, 2
Increased red blood cell mass, Pulmonary arterial hypertension, Increased hematocrit, Increased h... OMIM:263400
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Necrotizing Enterocolitis
Apnea, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytopenia ORPHA:391673
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Dyspnea, Thrombocytopenia, Abnormal T cell morpholog... OMIM:242900
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Abscess, Eosinophilia, Asthma, Abnormal subpleural morp... ORPHA:400
Alg12-Cdg
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... ORPHA:79324
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema OMIM:224690
Smith-Kingsmore Syndrome
Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... OMIM:245150
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Bone marrow hypocellularity, Infection associated neutropenia,... ORPHA:445038
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Thrombocytopenia OMIM:614857
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent... OMIM:617303
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia,... ORPHA:292
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni... ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Pulmona... OMIM:603585
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Dyspnea, Nasal... ORPHA:90051
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Agammaglobulinemia, Neutropenia, Recurrent lower re... OMIM:209920
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Q Fever
Respiratory distress, Cryoglobulinemia, Pneumonia, Thrombocytopenia, Splenomegaly, Abnormal pulmo... ORPHA:781
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... ORPHA:2330
Lassa Fever
Dyspnea, Increased circulating IgM level, Cough ORPHA:99824
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... OMIM:608233
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Viss Syndrome
Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Increased circulating IgE level, Increased circ... OMIM:619472
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Dyspnea, Abnormal spleen morphology, Increased circu... ORPHA:284
Aapoaiv Amyloidosis
Diabetes mellitus, Abnormal lung morphology, Chronic pulmonary obstruction, Paraproteinemia ORPHA:439232
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Decreased eosinophi... ORPHA:2686
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Insulin resistance, Recurrent pneumonia, Hyperinsulinemia, Decreased circulating Ig... OMIM:613327
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Shwachman-Diamond Syndrome 1
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Thromb... OMIM:260400
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Al Amyloidosis
Howell-Jolly bodies, Dyspnea, Nonproductive cough, Abnormal pulmonary interstitial morphology, Pu... ORPHA:85443
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypo... OMIM:612541
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Secretory IgA deficiency, Respiratory failure, Emphysema, Decreased cir... ORPHA:500150
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Sinusitis, Aplas... ORPHA:811
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Iron deficiency anemia, Type I diabetes mellitus, Thrombocytosis, Decreased ci... OMIM:212750
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Myeloma, Multiple
Paraproteinemia OMIM:254500
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax OMIM:154700
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autosomal Dominant Cutis Laxa
Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis ORPHA:90348
Primary Sjögren Syndrome
Normocytic anemia, Lymphocytic interstitial pneumonia, Bronchitis, Nonproductive cough, Usual int... ORPHA:289390
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology... OMIM:617050
Hemochromatosis, Type 1
Splenomegaly, Glucose intolerance, Pleural effusion, Diabetes mellitus OMIM:235200
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, N... OMIM:615387
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia ORPHA:293173
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... ORPHA:77261
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Thrombocytopenia, Recurrent pneumonia, Leukopenia, Neutropenia, Neonatal hy... OMIM:616271
Fusariosis
Brain abscess, Sinusitis, Lung abscess, Pneumonia, Productive cough, Abnormality of the spleen, H... ORPHA:228119
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hepatosplenomegaly, Str... ORPHA:505248
Papa Syndrome
Type I diabetes mellitus, Increased circulating antibody level ORPHA:69126
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Bronchitis, Splenomegaly, Bronchiectasis, Decre... OMIM:619381
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Sinusitis, Abnormal eosinophil morphology, Ep... ORPHA:906
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Scleromyxedema
Abnormal lung morphology, Paraproteinemia, Abnormal pulmonary artery morphology, Exertional dyspnea ORPHA:167635
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation ORPHA:83600
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Japanese Encephalitis
Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM level, Respiratory... ORPHA:79139
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Dyspnea, Neutropenia, Microcytic anemia OMIM:251900
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Neutr... OMIM:613989
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Dyspnea, Abnormal lung morphology, Com... ORPHA:449427
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Leukocytosis, Abnormality of complement system, Polycythemia, An... ORPHA:542643
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Thromb... ORPHA:537
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Abnormal lung morphology, Increased circulating I... ORPHA:449395
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Dyspnea, Glucose intolerance, Glycosuria, Exertional dyspnea OMIM:616539
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Restrictive ventilatory... OMIM:607944
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2834
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Pancytopenia, Epistaxis, Thrombo... ORPHA:167
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... ORPHA:158048
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Brucellosis
Liver abscess, Lung abscess, Pneumonia, Bronchitis, Hypersplenism, Thrombocytopenia, Leukocytosis... ORPHA:1304
Myotonic Dystrophy 2
Insulin insensitivity, Decreased circulating IgG level, Decreased circulating total IgM, Type II ... OMIM:602668
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Abnormal lung morphology, Increased ci... ORPHA:449563
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Poikiloderma With Neutropenia
Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, Recurrent s... OMIM:604173
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Lysinuric Protein Intolerance
Thrombocytopenia, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Hepatosplen... ORPHA:470
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent bronc... OMIM:302060
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypopnea, Respiratory failure, Neutropenia, Respiratory arrest, Neonatal hypoglycemia OMIM:617248
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Diabetes mellitus ORPHA:90003
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Glucose intolerance, Impaired glucose tolerance OMIM:615630
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Impaired glucose tolerance OMIM:614407
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... OMIM:242840
Coccidioidomycosis
Respiratory distress, Pneumonia, Eosinophilia, Abscess, Abnormality of the spleen, Increased circ... ORPHA:228123
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level OMIM:615508
Wolcott-Rallison Syndrome
Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lymphocytosis, Neutropenia ORPHA:1667
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Impaired neutro... ORPHA:2968
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Nonproductive cough, Neutrophilia in presence of infe... ORPHA:99826
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Pneumonia, Splenomegaly, Anemia, Increased circulating antibody l... OMIM:615846
Gaucher Disease
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal pulmonary interstitial morphology, Respira... ORPHA:355
Abcd Syndrome
Polycythemia OMIM:600501
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insulin resistance, Gluco... OMIM:617253
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Bronc... ORPHA:33364
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Asthma, Allergic rhinitis OMIM:618162
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Type I diab... OMIM:557000
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Fatig... ORPHA:297
Zygomycosis
Brain abscess, Sinusitis, Diabetes mellitus, Epistaxis, Atelectasis, Pneumothorax, Neutropenia, A... ORPHA:73263
Leigh Syndrome
Hypoglycemia, Respiratory failure, Neutropenia, Abnormal pattern of respiration, Anemia ORPHA:506
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypoglycemia, Megaloblastic anemia, Pulmonary embolism, Neutropenia, Pulmon... ORPHA:79282
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Sotos Syndrome
Acute lymphoblastic leukemia, Small cell lung carcinoma, Neonatal hypoglycemia, Pulmonary bleb ORPHA:821
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Abnormal lung lobation, Decreased circulating IgA level ORPHA:369837
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia OMIM:271510
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Cartilage-Hair Hypoplasia
Anemia, Decreased circulating antibody level, Respiratory insufficiency, Neutropenia ORPHA:175
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia, Apnea, Hyperventilation OMIM:617799
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Hermansky-Pudlak Syndrome
Pulmonary fibrosis, Dyspnea, Epistaxis, Neutropenia ORPHA:79430
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Ogden Syndrome
Peripheral pulmonary artery stenosis, Apnea, Maternal diabetes, Pulmonary artery stenosis, Pulmon... OMIM:300855
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Hypoglycemia, Neutropenia OMIM:618005
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Epistaxis, Diffuse alveolar hemorrhage, Splenomegaly, Leukocytosis, L... ORPHA:99827
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Ty... ORPHA:171
Kikuchi-Fujimoto Disease
Thrombocytopenia, Splenomegaly, Abnormal pulmonary interstitial morphology, Leukopenia, Lymphocyt... ORPHA:50918
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoac... ORPHA:358
Trichinellosis
Increased circulating IgE level ORPHA:863
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Hypoglycemia, Polysplenia ORPHA:373
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Recurrent upper respiratory tract infections, Hypoglycemia, Cycl... OMIM:232240
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopeni... ORPHA:83617
Autosomal Dominant Progressive External Ophthalmoplegia
Glucose intolerance, Diabetes mellitus, Respiratory insufficiency, Exertional dyspnea ORPHA:254892
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227646
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Brain abscess, Pulmonary arteriovenous malformation, Dyspnea, H... OMIM:187300
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Neutropenia, Pulmonary a... ORPHA:163956
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Thrombocytopenia, Splenomegaly, Glycosuria, Bon... ORPHA:699
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Impaired glucose tolerance OMIM:610131
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia OMIM:117550
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Impaired glucose tolerance, Pulmonary arteriovenous malformation, Insul... OMIM:606721
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Brain abscess, Pulmonary arteriovenous malformation, Dyspnea, P... OMIM:600376
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Polycythemia OMIM:193300
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance OMIM:219090
Fumarase Deficiency
Polycythemia OMIM:606812
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Neutropenia,... ORPHA:95455
Glycogen Storage Disease Ib
Splenomegaly, Hypoglycemia, Neutropenia OMIM:232220
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Cohen Syndrome
Neutropenia ORPHA:193
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia ORPHA:785
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia ORPHA:309854
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Glucose into... OMIM:137920
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia, Neutropenia ORPHA:93357
Cysticercosis
Increased circulating antibody level ORPHA:1560
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Glucose intolerance ORPHA:189427
Beckwith-Wiedemann Syndrome
Splenomegaly, Hypoglycemia, Polycythemia, Neonatal hypoglycemia ORPHA:116
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hemoglobin A1c OMIM:619127
Aniridia 1
Glucose intolerance, Increased proinsulin:insulin ratio OMIM:106210
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus ORPHA:99226
Williams-Beuren Syndrome
Glucose intolerance, Diabetes mellitus, Peripheral pulmonary artery stenosis OMIM:194050
Primrose Syndrome
Glucose intolerance, Diabetes mellitus OMIM:259050

Histopathology

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

There is no histopathology data for Hmgn5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hmgn5.

No publications found that use IMPC mice or data for Hmgn5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hmgn5tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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