Gene Summary

Name:
NIPA-like domain containing 3
Synonyms:
9130020G22Rik,  Npal3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nipal3 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 Nipal3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 25
Recurrent pneumonia, T lymphocytopenia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Increased circulating IgG level, Increased B cel... OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 20
Reduced natural killer cell count, Wheezing, Recurrent sinusitis, Reduced natural killer cell act... OMIM:615707
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Bronchiectas... OMIM:618108
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, Neutrophilia, B lymphocytopenia, ... OMIM:619281
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurrent sinusitis, Pneum... OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral i... ORPHA:277
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Cough, Decreased proportion of CD4-positive helper T cells, Abnormally low T cell receptor excisi... ORPHA:276
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent sinusitis, Pneumonia, B lymphocytop... ORPHA:217390
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased circulating IgE, Decreased baso... OMIM:618394
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Pneumonia, Histiocytosis, Increase... OMIM:209950
Immunodeficiency 48
Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma OMIM:270300
Immunodeficiency 52
Coombs-positive hemolytic anemia, Bronchiectasis, Autoimmune thrombocytopenia, Decreased circulat... OMIM:617514
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmona... OMIM:178500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Neutropenia, Chronic sinusitis OMIM:613502
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia, Increased circulating IgE level, Bronchiectasis OMIM:618523
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Irritability, Decreased circulating IgA level, Decr... OMIM:275350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia OMIM:147060
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Interstitial pneumonitis OMIM:614878
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis OMIM:193670
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level, Respiratory f... ORPHA:83313
Immunodeficiency, Common Variable, 10
Recurrent sinusitis, Decreased circulating IgA level, Asthma, Recurrent pneumonia, Decreased circ... OMIM:615577
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Hypereosinophilia, Asthma, Decreased circulat... OMIM:256500
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Aspergillosis
Abnormality on pulmonary function testing, Increased circulating IgE level, Dyspnea, Bronchiectas... ORPHA:1163
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Pneumonia OMIM:614069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, B lymphocytopenia OMIM:601457
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 61
Recurrent sinusitis, Agammaglobulinemia OMIM:300310
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Bronchiectasis, Autoimmune thrombocytopeni... OMIM:614700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Respiratory insufficiency OMIM:618042
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Pneumonia, Neutropenia... OMIM:601495
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splenomegaly, Reduced ... OMIM:616050
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, An... OMIM:615934
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly OMIM:618495
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Increased circulating antibody level, Pleu... ORPHA:723
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgE level, Increased circulating IgM level, Bronchiectas... OMIM:615816
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Recurrent pneumonia, Decreased mean platelet volume, Increased circulatin... OMIM:301000
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Chronic sinusitis OMIM:612692
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Decreased specific anti-polysaccharide antibody level, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy... OMIM:617388
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 54
Reduced natural killer cell count, Respiratory failure, Respiratory insufficiency, Splenomegaly OMIM:609981
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Iga Pemphigus
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... ORPHA:555905
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Myeloma, Multiple
Paraproteinemia OMIM:254500
Netherton Syndrome
Decreased circulating antibody level, Emphysema, Increased circulating IgE level, Asthma ORPHA:634
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Bloom Syndrome
Bronchiectasis, Chronic lung disease, Decreased circulating IgA level, Decreased circulating tota... OMIM:210900
Lead Poisoning
Impaired social interactions, Increased circulating IgE level, Abnormality of humoral immunity, D... ORPHA:330015
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level, Hypoxemia, Transudative pleu... ORPHA:284227
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia, Asthma ORPHA:90280
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count ORPHA:100024
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Immunodeficiency 47
Decreased circulating antibody level, Leukopenia, Splenomegaly OMIM:300972
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Autosomal Dominant Hyper-Ige Syndrome
Cough, Increased circulating IgE level, Eosinophilia, Atelectasis ORPHA:2314
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, P... OMIM:613011
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinusitis, Pneumonia, Emotional la... ORPHA:420741
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Multiple Myeloma
Decreased circulating antibody level, Pleural effusion, Increased circulating IgG level, Splenome... ORPHA:29073
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Progressive neurologic deterioration ORPHA:85317
Selective Igm Deficiency
Recurrent pneumonia, Allergic rhinitis, Cutaneous abscess, Decreased proportion of CD8-positive T... ORPHA:331235
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Irritability, Splenomegaly OMIM:615846
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Splenomegaly, Decreased lym... OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Adult-Onset Nemaline Myopathy
Paraproteinemia, Reduced vital capacity, Respiratory insufficiency due to muscle weakness ORPHA:171442
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Respiratory distress, Neutropenia, Thrombocytopenia, Splenomegal... OMIM:617303
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia ORPHA:33355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Coug... ORPHA:79124
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Tularemia
Cutaneous abscess, Respiratory distress, Leukocytosis, Increased circulating antibody level, Coug... ORPHA:3392
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Aplastic anemia, Splenomegaly OMIM:300635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Thrombocytopenia, Anemia, S... ORPHA:169105
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating IgA level, Anemia, Recurrent pneumonia, Decreased circulating... OMIM:612301
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Bloom Syndrome
Chronic pulmonary obstruction, Abnormal proportion of CD8-positive T cells, Decreased circulating... ORPHA:125
Immunodeficiency 43
Decreased circulating IgG level, Bronchiectasis OMIM:241600
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Thymic Tumor
Dyspnea, Cough, Dysgammaglobulinemia ORPHA:100100
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-... OMIM:208900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Respiratory distress, Decreased circulating IgG level, Thrombocy... ORPHA:505248
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia OMIM:602450
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Pneumonia, Thrombocytopenia, Increased circulating IgG level... ORPHA:2298
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Xq28 (MECP2) duplication
Anxiety, Decreased circulating IgA level DECIPHER:45
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Ataxia-Telangiectasia
Cognitive impairment, Decreased circulating antibody level, Lymphopenia ORPHA:100
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Progressive psychomotor deterioration, Panhypogammaglobulinemia ORPHA:251009
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Japanese Encephalitis
Increased circulating IgM level, Respiratory distress, Irregular respiration, Increased circulati... ORPHA:79139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Rasmussen Subacute Encephalitis
Emotional lability, Irritability, Decreased circulating total IgA, Cognitive impairment, Memory i... ORPHA:1929
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Pleural effusion, Lymphopenia ORPHA:90363
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Pleural effusion, Epistaxis, Respiratory insufficie... ORPHA:33226
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Autosomal Agammaglobulinemia
Bronchiectasis, Cough, Neutropenia, Agammaglobulinemia, Sinusitis ORPHA:33110
Tick-Borne Encephalitis
Increased circulating IgM level, Leukocytosis, Abnormality of serum cytokine level, Thrombocytope... ORPHA:297
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Decreased cir... OMIM:615952
Common Variable Immunodeficiency
Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmune thrombocytopenia, De... ORPHA:1572
Thymoma
Dyspnea, Hemolytic anemia, Decreased circulating antibody level, Cough, Abnormal lymphocyte morph... ORPHA:99867
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Chronic lung disease, Splenomegaly, Asthm... OMIM:170100
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hypoventilation OMIM:606056
Coccidioidomycosis
Increased circulating IgM level, Respiratory distress, Cough, Exudative pleural effusion, Granulo... ORPHA:228123
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Emphysema, Lymphopenia, Abnormal T cell morphology, Recurr... OMIM:242700
Trichinellosis
Memory impairment, Irritability, Increased circulating IgE level, Apathy ORPHA:863
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea, Decreased circulating IgG level, Neutropenia OMIM:608809
Encephalitis Lethargica
Increased circulating antibody level, Mental deterioration, Hyperventilation ORPHA:83600
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia, Recurrent pneumonia ORPHA:353298
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Interstitial pneumonitis, Decr... ORPHA:449395
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Impaired social interactions, Aggressive behavior, Hyperventi... OMIM:610042
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Igg4-Related Pachymeningitis
Dyspnea, Increased circulating IgG4 level, Complement deficiency, Sinusitis, Mental deterioration... ORPHA:449427
Proteasome-Associated Autoinflammatory Syndrome 1
Increased serum interferon-gamma level, Microcytic anemia, Increased circulating antibody level, ... OMIM:256040
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Central sleep apnea, Obstructive sleep apnea, Decreased circulat... ORPHA:369837
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Anxiety, Splenomegaly ORPHA:2137
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Pneumonia, Pulmonar... OMIM:226300
Mohr-Tranebjaerg Syndrome
Mental deterioration, Aspiration pneumonia, Agammaglobulinemia, Dementia ORPHA:52368
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Leukopenia, S... ORPHA:381
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Immunodeficiency 58
Allergic rhinitis, Chronic pulmonary obstruction, Cutaneous abscess, Bronchiectasis, Decreased sp... OMIM:618131
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Decreased circulating IgA level ORPHA:457485
X-Linked Agammaglobulinemia
Neutropenia, Sinusitis, Thrombocytopenia, Agammaglobulinemia, Recurrent cutaneous abscess formati... ORPHA:47
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Chronic lung disease, Splenomegaly, Decreased circulating IgA level, Hypersplenism,... OMIM:613385
C3 Glomerulopathy
Decreased serum complement C3, Paraproteinemia, Decreased serum complement C4 ORPHA:329918
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Cognitive impairment, Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Brucellosis
Lung abscess, Increased circulating IgM level, Thrombocytosis, Leukocytosis, Pleural effusion, Gr... ORPHA:1304
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Sinusitis, Anemia, Splenomegaly OMIM:617591
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Self-injurious behavior OMIM:618428
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Whim Syndrome
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Pneumonia, Neutropenia, Atelec... ORPHA:51636
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level, Sinusitis ORPHA:449563
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leuko... ORPHA:77259
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Irritability, Dyspnea, Hyperventilation OMIM:229700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, Respiratory distress, B lymphocytopenia ORPHA:83617
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Bronchiectasis, Autoimmune thrombocytopenia, Decreased circulating anti... ORPHA:293978
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Decreased circulating antibody level, Pleural effusion, Lymphopenia ORPHA:90362
Primary Sjögren Syndrome
Cryoglobulinemia, Dementia, Decreased circulating antibody level, Increased circulating antibody ... ORPHA:289390
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Hyperventilation ORPHA:64280
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia OMIM:617425
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Tachypnea, Irritability, Hyperventilation OMIM:253270
Poems Syndrome
Restrictive ventilatory defect, Thrombocytosis, Increased circulating antibody level, Pleural eff... ORPHA:2905
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Splenic cyst, Asthma, Abscess, Eosinoph... ORPHA:400
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Granulo... OMIM:233600
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Anxiety, Hyperventilation ORPHA:98784
Gaucher Disease Type 3
Dementia, Increased circulating antibody level, Thrombocytopenia, Pancytopenia, Anemia, Splenomeg... ORPHA:77261
Dopa-Responsive Dystonia
Abnormal social behavior, Agoraphobia, Emotional lability, Panic attack, Irritability, Anxiety ORPHA:255
Primary Sclerosing Cholangitis
Pleural effusion, Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly ORPHA:171
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Anxiety, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Nijmegen Breakage Syndrome
T lymphocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Sinusitis, Thrombocytopenia, Dysg... OMIM:251260
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly ORPHA:373
Scleromyxedema
Paraproteinemia, Exertional dyspnea ORPHA:167635
Q Fever
Cryoglobulinemia, Respiratory distress, Increased circulating antibody level, Cough, Pleural effu... ORPHA:781
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Increa... OMIM:181000
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Pneumonia, Sinusitis OMIM:300755
Cysticercosis
Dementia, Increased circulating antibody level, Apathy, Emotional lability, Memory impairment, Me... ORPHA:1560
Alveolar Echinococcosis
Cutaneous abscess, Dyspnea, Increased circulating antibody level, Cough, Abnormal spleen morpholo... ORPHA:284
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior ORPHA:101039
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis OMIM:212065
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Pneumonia, Sinusitis OMIM:307200
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Abnormal social behavior ORPHA:444002
Al Amyloidosis
Dyspnea, Increased circulating antibody level, Nonproductive cough, Anemia, Howell-Jolly bodies, ... ORPHA:85443
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurrent sinusi... OMIM:615688
Aapoaiv Amyloidosis
Paraproteinemia, Chronic pulmonary obstruction ORPHA:439232
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... OMIM:614576
Rett Syndrome
Apnea, Motor deterioration, Intermittent hyperventilation, Dementia OMIM:312750
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227990
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Dubowitz Syndrome
Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG level, Decreased circula... OMIM:223370
Adult-Onset Cervical Dystonia, Dyt23 Type
Panic attack, Hyperventilation ORPHA:420492
Joubert Syndrome 17
Hyperventilation OMIM:614615
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia OMIM:158350
Lysinuric Protein Intolerance
Hemophagocytosis, Abnormality of humoral immunity, Decreased circulating antibody level, Increase... ORPHA:470
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Asthma OMIM:601675
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, ... OMIM:610377
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia... ORPHA:227982
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level, Pleural effusion OMIM:618183
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... ORPHA:3132
48,Xxxy Syndrome
Abnormal social behavior, Pulmonary embolism, Irritability, Anxiety, Asthma, Abnormal aggressive,... ORPHA:96263
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Neutropenia, Respiratory insufficiency, Anemia, Cognitive i... ORPHA:175
Hennekam Syndrome
Decreased circulating antibody level, Lymphopenia, Respiratory insufficiency, Chylothorax, Spleno... ORPHA:2136
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Bronchospasm, Panhypogammaglobulinemia, Neut... ORPHA:33364
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Semantic dementia, Dementia, Abnormal social behavior ORPHA:1020
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Sleep apnea, Poor eye contact, Central apnea, Self-biting, Hyperventilation ORPHA:522077
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia, Laryngotracheomalacia OMIM:271510
Developmental And Epileptic Encephalopathy 2
Poor eye contact, Hyperventilation OMIM:300672
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Hyperventilation OMIM:618775
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Aggressive behavior, Hyperventilation OMIM:610954
Cholera
Tachypnea, Irritability, Aspiration pneumonia, Hyperventilation ORPHA:173
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Joubert Syndrome 8
Hyperventilation OMIM:612291
Niemann-Pick Disease Type C
Bone-marrow foam cells, Progressive neurologic deterioration, Aggressive behavior, Dementia, Apat... ORPHA:646
Pitt-Hopkins Syndrome
Sleep apnea, Aggressive behavior, Self-injurious behavior, Hyperventilation, Abnormal pattern of ... ORPHA:2896
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Anemia, Hepatosplenomegaly,... OMIM:274000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Anemia ORPHA:79396
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume, Hypoplasia... ORPHA:84064
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Gaucher Disease
Increased circulating antibody level, Respiratory insufficiency, Pancytopenia, Thrombocytopenia, ... ORPHA:355
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia, Recurrent pneumonia, Ne... ORPHA:99843
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Tachypnea, Pneumothorax, Hyperventilation ORPHA:90068
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Acute Liver Failure
Hypocapnia, Abnormal respiratory system physiology, Emotional lability, Thrombocytopenia, Euphori... ORPHA:90062
Metachromatic Leukodystrophy, Adult Form
Dementia, Abnormal social behavior, Emotional lability, Progressive psychomotor deterioration, Me... ORPHA:309271
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Reduced hematocrit, Normocytic anemia, Normochromic anemia,... ORPHA:91500
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Respiratory distress, Abnormal social behavior, Head-... ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Respiratory failure requiring assisted ventilation, Irritability, Abnor... ORPHA:1675
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability ORPHA:309263
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Hepatosplenomegaly, Anemia ORPHA:247598
Fg Syndrome Type 1
Pulmonary arterial hypertension, Abnormal social behavior ORPHA:93932
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability ORPHA:309256
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia, Recurrent pneumonia ORPHA:93357
Tuberous Sclerosis Complex
Respiratory distress, Aggressive behavior, Abnormal social behavior, Self-injurious behavior, Res... ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Anxiety, Tracheomalacia, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Tracheomalacia, Overfriendliness ORPHA:363958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Emphysema, Decreased circulating IgG level, Respiratory failure ORPHA:500150
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Aggressive behavior, Abnormal social behavior ORPHA:314647
Mend Syndrome
Abnormal social behavior, Aggressive behavior ORPHA:401973
Mowat-Wilson Syndrome
Impaired social interactions, Decreased circulating antibody level, Asplenia, Anxiety, Happy deme... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia, Happy demeanor ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia, Happy demeanor ORPHA:261552
Williams Syndrome
Abnormal social behavior, Anxiety, Overfriendliness ORPHA:904
Pallister-Killian Syndrome
Hyperventilation OMIM:601803

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 Nipal3

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 Nipal3.

No publications found that use IMPC mice or data for Nipal3.

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MGI Allele Allele Type Produced
Nipal3tm530(L1L2_gt0) Targeting vectors
Nipal3tm45716(L1L2_gt0) Targeting vectors

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