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Gene: Nipal3 MGI:1921802

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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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
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... OMIM:615513
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... OMIM:613502
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... OMIM:619707
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Asthma, Co... OMIM:607271
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Recurren... OMIM:613500
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Bronchiec... OMIM:301082
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Immunodeficiency 20
Reduced natural killer cell count, Wheezing, Recurrent sinusitis, Reduced natural killer cell act... OMIM:615707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased lymphocyte proliferation in response to mitogen, Defective T cell proli... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Bronchiectasis, Increased circula... OMIM:618982
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Decreased circulating antib... OMIM:618108
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Chronic sinusitis... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Asthma, Eosinophilia, Pneumonia, Increased circu... OMIM:617638
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia... OMIM:619220
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Cutan... OMIM:619752
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Bronchiectasis, Reduced circulating interleukin... OMIM:619632
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... OMIM:618969
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pn... OMIM:247800
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of an... OMIM:607594
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, ... ORPHA:277
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... OMIM:601859
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Incre... OMIM:243700
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:615767
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Asthma, Recurrent sinusitis, Pneumonia, Increased circulati... ORPHA:217390
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Decreased proportion of CD4-positive hel... OMIM:312863
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:276
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 52
Bronchiectasis, Decreased circulating antibody level, Increased proportion of gamma-delta T cells... OMIM:617514
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Thrombocytosis, Increase... OMIM:209950
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Asthma, Hypoxemia, Increased circulating IgE level, Pleural effusion, Crackles... ORPHA:2902
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocytopenia, Absent circulati... OMIM:619705
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Bronchiectasis, Pancytopenia, Decreased circulating IgE, Decreas... OMIM:618394
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Decreased T cell activation, Hemolytic anemia, Hypoxemia, Decreased circulating IgE... OMIM:308230
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Decreased circulating total IgM, Monocytopenia, Decreased prop... OMIM:619802
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Sinusitis, Decreased circul... OMIM:242860
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Exertional dyspnea, Increased circulating antibody level, Dyspne... OMIM:178500
Immunodeficiency 48
Absence of CD8-positive T cells, Pneumonia, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Impai... OMIM:600802
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Eosinophilia OMIM:618523
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... ORPHA:331206
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Bronchiectasis, Decreased circulating antibody level, Lymphopeni... OMIM:616100
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Decreased proportion of class-switched... OMIM:614878
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Bone marrow hyp... ORPHA:443811
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Mental deterioration OMIM:182410
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent pneumonia, Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Whim Syndrome 1
Decreased circulating antibody level, Neutropenia, Bronchiectasis, Decreased circulating IgG level OMIM:193670
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Asthma, Increased circulating antibody level... ORPHA:449400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Asthma, Absent specific antibody response, De... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Boutonneuse Fever
Leukopenia, Increased circulating IgM level, Respiratory failure, Thrombocytopenia, Increased cir... ORPHA:83313
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Aspergillosis
Neutropenia, Bronchiectasis, Asthma, Chronic pulmonary obstruction, Increased circulating IgE lev... ORPHA:1163
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
Netherton Syndrome
Hypereosinophilia, Allergic rhinitis, Asthma, Increased circulating IgE level, Decreased circulat... OMIM:256500
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Schnitzler Syndrome
Leukocytosis, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Asthma, Recurrent sinusitis, Recurrent pneumonia, Decreased circ... OMIM:615577
Thrombocytopenia 1
Increased circulating IgE level, Epistaxis, Increased circulating IgA level, Congenital thrombocy... OMIM:313900
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Bronchiectasis, Recurrent sinusitis, Cutaneous abscess, Recurrent pneumonia, Dec... OMIM:618282
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Pancytopen... OMIM:275350
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... ORPHA:2442
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Th... OMIM:616050
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Impaired T cell function, Decreased cir... OMIM:240500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Increased circulating IgA level, Thrombocytosis, Increased circu... OMIM:615934
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, Bronchiectasis, B lymphocytop... OMIM:614700
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Increased circulating antibody level, Interstitial... ORPHA:723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Pneumonia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Asthma, Increased circulating IgG level, Lym... OMIM:615816
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:619767
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Increas... OMIM:618495
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic pulmonary obst... OMIM:616576
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... OMIM:300853
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... OMIM:614470
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil chemotaxis, B l... OMIM:618986
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circul... OMIM:617388
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Lead Poisoning
Anemia, Memory impairment, Cognitive impairment, Abnormal T cell morphology, Impaired social inte... ORPHA:330015
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Pneumonia, Decreased circulating IgA level, Decreased proportio... OMIM:619652
Iga Pemphigus
Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Eosi... ORPHA:555905
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 54
Respiratory insufficiency, Reduced natural killer cell count, Respiratory failure, Splenomegaly OMIM:609981
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Netherton Syndrome
Asthma, Decreased circulating antibody level, Increased circulating IgE level, Emphysema ORPHA:634
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Caffey Disease
Respiratory insufficiency, Increased circulating antibody level ORPHA:1310
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Delayed speech and language development, Decreased circulating IgA level, Decreased circulating a... OMIM:617744
Lassa Fever
Dyspnea, Increased circulating IgM level, Cough ORPHA:99824
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Tempi Syndrome
Increased hematocrit, Hypoxemia, Polycythemia, Transudative pleural effusion, Increased circulati... ORPHA:284227
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Monoclonal elevation of IgG,... ORPHA:91139
Chilblain Lupus
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Lymphopenia, Recurrent ... OMIM:617780
Mogs-Cdg
Hypoventilation, Decreased circulating total IgM, Decreased circulating antibody level, Respirato... ORPHA:79330
Selective Igm Deficiency
Decreased circulating total IgM, Bronchiectasis, Allergic rhinitis, Asthma, Neutropenia in presen... ORPHA:331235
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Multiple Myeloma
Anemia, Decreased circulating antibody level, Pleural effusion, Increased circulating IgA level, ... ORPHA:29073
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Xq28 (MECP2) duplication
Delayed speech and language development, Decreased circulating IgA level, Absent speech, Anxiety DECIPHER:45
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Thymic Tumor
Language impairment, Dyspnea, Dysgammaglobulinemia, Cough ORPHA:100100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Decreased circulating antibody level ORPHA:85317
Autosomal Dominant Hyper-Ige Syndrome
Cough, Eosinophilia, Increased circulating IgE level ORPHA:2314
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Delayed speech and language development, Pa... OMIM:620133
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Riddle Syndrome
Decreased circulating total IgM, Recurrent sinusitis, Chronic sinusitis, Emotional lability, Recu... ORPHA:420741
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... OMIM:226990
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... OMIM:615559
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Respiratory distress, Absent speech, Recurrent pneumonia, Bone marrow hypocel... OMIM:617303
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, No social interaction, Decreased circulating total IgM, Decreased lymphocyte p... ORPHA:508533
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Adult-Onset Nemaline Myopathy
Paraproteinemia, Reduced vital capacity, Respiratory insufficiency due to muscle weakness ORPHA:171442
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Reticular Dysgenesis
Leukopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:33355
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Respiratory distress, Cutaneous absc... ORPHA:3392
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Anemia, Decreased circulating total I... OMIM:620005
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... ORPHA:572
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... ORPHA:507
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, B ly... OMIM:601495
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve... OMIM:260920
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Recurren... ORPHA:79124
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Pancytopenia, Hemophagocytosis, Aplastic anemia, Splenomegaly OMIM:300635
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, Sp... OMIM:612301
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating total IgM, Anemia, Decreased circulating I... OMIM:620040
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Japanese Encephalitis
Cognitive impairment, Respiratory paralysis, Irregular respiration, Increased circulating antibod... ORPHA:79139
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Bronchiectasis, ... ORPHA:183675
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Good Syndrome
Anemia, Bronchiectasis, Decreased circulating antibody level, Dyspnea, Sinusitis, Cough, Thromboc... ORPHA:169105
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Leukopenia, Anemia, Respiratory distress, Absent speech, Hepatos... ORPHA:505248
Bloom Syndrome
Acute myeloid leukemia, Rhinitis, Decreased circulating total IgM, Decreased circulating antibody... ORPHA:125
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... OMIM:300972
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Bloom Syndrome
Decreased circulating total IgM, Bronchiectasis, Decreased circulating IgA level, Elevated hemogl... OMIM:210900
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Spondyloepimetaphyseal Dysplasia, Krakow Type
Asthma, Delayed speech and language development, Decreased circulating total IgM, Allergic rhinitis OMIM:618162
Rasmussen Subacute Encephalitis
Cognitive impairment, Emotional lability, Decreased circulating total IgA, Irritability, Memory i... ORPHA:1929
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Pancytopenia, Progressive psychomotor deterioration ORPHA:251009
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le... ORPHA:2298
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Decre... OMIM:619381
Ataxia-Telangiectasia
Cognitive impairment, Lymphopenia, Decreased circulating antibody level ORPHA:100
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Int... ORPHA:37042
Waldenström Macroglobulinemia
Respiratory insufficiency, Memory impairment, Leukemia, Normocytic anemia, Cryoglobulinemia, Abno... ORPHA:33226
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Lymphopenia, Dyspnea, Cough, Thrombocytopenia ORPHA:319218
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgA level, Decreased circulat... ORPHA:275
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pleural effus... ORPHA:90363
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level, Asthma, Hepatosplenomegaly, Recurrent pneumonia, Microcytic... OMIM:619750
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Autosomal Agammaglobulinemia
Neutropenia, Bronchiectasis, Sinusitis, Cough, Agammaglobulinemia ORPHA:33110
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Delayed speech and language developm... OMIM:208900
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Lymphopenia, Emphysema, Hepatosplenomegaly, Recurrent pneumoni... OMIM:242700
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Coccidioidomycosis
Cognitive impairment, Pleural empyema, Granuloma, Exudative pleural effusion, Respiratory distres... ORPHA:228123
Prolidase Deficiency
Anemia, Asthma, Increased circulating antibody level, Recurrent pneumonia, Thrombocytopenia, Chro... OMIM:170100
Trichinellosis
Apathy, Increased circulating IgE level, Irritability, Memory impairment ORPHA:863
Tick-Borne Encephalitis
Leukopenia, Cognitive impairment, Abnormality of serum cytokine level, Increased circulating IgM ... ORPHA:297
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presence of anti-n... OMIM:615952
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Thymoma
Decreased circulating antibody level, Pure red cell aplasia, Abnormal lymphocyte proliferation, A... ORPHA:99867
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Recurrent ... ORPHA:353298
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation, Mental deterioration ORPHA:83600
Common Variable Immunodeficiency
Hemolytic anemia, Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Emphysema, A... ORPHA:1572
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Impaired social interactions, Absent speech, Language impairment, Hyperventi... OMIM:610042
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... OMIM:301078
Ring Chromosome 21 Syndrome
Delayed speech and language development, Decreased circulating antibody level ORPHA:1445
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Increased circulating IgG4 level, Increased circulating IgA level, Increased ci... ORPHA:79078
Rift Valley Fever
Anemia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent sinusitis, Bronchiectasis OMIM:615207
Postinfectious Vasculitis
Increased circulating antibody level, Cryoglobulinemia, Increased circulating IgA level, Pneumoni... ORPHA:48435
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Increased circulating interleukin 6 concentration, Perianal ab... OMIM:301074
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level OMIM:618165
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Dyspnea, Sinusitis, Eosinophilia, Mental deterioration, Complem... ORPHA:449427
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly, Anxiety ORPHA:2137
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dementia, Mental deterioration ORPHA:52368
Schimke Immunoosseous Dysplasia
Pulmonary arterial hypertension, Anemia, Abnormal T cell morphology, Decreased circulating antibo... OMIM:242900
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Brucellosis
Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Lung abscess, Pleural effusion, Thro... ORPHA:1304
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Bone marrow hypocel... ORPHA:381
Macrocephaly/Autism Syndrome
Delayed speech and language development, Splenomegaly, Lymphopenia, Decreased circulating antibod... OMIM:605309
Cntnap2-Related Developmental And Epileptic Encephalopathy
Aggressive behavior, Intermittent hyperventilation, Delayed speech and language development, Abse... ORPHA:163681
X-Linked Agammaglobulinemia
Anemia, Neutropenia, Recurrent pneumonia, Recurrent cutaneous abscess formation, Sinusitis, Throm... ORPHA:47
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Pancytopenia, Decreased circulating IgA level, Reduced forced expiratory volume in... OMIM:613385
Immunodeficiency 58
Decreased T cell activation, Bronchiectasis, Allergic rhinitis, Asthma, Decreased circulating ant... OMIM:618131
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Decreased circulating antibody level, Thrombocytosis, Iron deficiency... OMIM:226300
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Central sleep apnea, Decreased circulating IgA level, Obstructive sleep apnea, Decreased circulat... ORPHA:369837
C3 Glomerulopathy
Decreased circulating complement C4 concentration, Paraproteinemia, Decreased circulating complem... ORPHA:329918
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Decreased circulating IgA level ORPHA:457485
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Sinusitis, Thrombocytopenia, Splenomegaly OMIM:617591
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Agammaglobulinemia, Cognitive impairment, Lymphopenia ORPHA:935
Alg12-Cdg
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia, Impaired lymphocyte ... OMIM:243150
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... ORPHA:540
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Irritability, Dyspnea, Hyperventilation OMIM:229700
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Decreased circulating complement C3 concentration, Interstitial... ORPHA:449395
Crimean-Congo Hemorrhagic Fever
Pulmonary arterial hypertension, Leukopenia, Hemothorax, Neutrophilia, Emotional lability, Pancyt... ORPHA:99827
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Anemia, Increased circulating antibody level, Hypers... ORPHA:77259
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Sinusitis, Eosinophilia, Increased circulating IgE level ORPHA:449563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Hemolytic anemia, Elliptocytosis, Tachypnea, Reticulocytosis, Hepatosp... OMIM:618278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, B lymphocytopenia, Respiratory distress, Absent speech, Severe B... ORPHA:83617
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Cystic Echinococcosis
Peritoneal abscess, Asthma, Increased circulating antibody level, Splenic cyst, Eosinophilia, Abs... ORPHA:400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Hyperventilation, Suicidal ideation, Anxiety ORPHA:98784
Primary Sjögren Syndrome
Leukopenia, Decreased circulating complement C3 concentration, Cognitive impairment, Decreased pr... ORPHA:289390
Whim Syndrome
Neutropenia, Bronchiectasis, Decreased circulating antibody level, Abnormality of neutrophil morp... ORPHA:51636
Poems Syndrome
Pulmonary arterial hypertension, Increased circulating antibody level, Polycythemia, Pleural effu... ORPHA:2905
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Pneumonia, Sinusitis, Absent circulating B cells OMIM:307200
Childhood Absence Epilepsy
Abnormal social behavior, Hyperventilation, Anxiety ORPHA:64280
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatosplenomegaly, Pleural effusion, Polyclonal elevation of IgM... ORPHA:171
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... ORPHA:79329
Liver Failure, Infantile, Transient
Irritability, Decreased circulating IgG level OMIM:613070
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Abnormal cytokin... ORPHA:158048
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation, Absent speech OMIM:617903
Celiac Disease, Susceptibility To, 1
Anxiety, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia OMIM:212750
Gaucher Disease Type 3
Pulmonary arterial hypertension, Anemia, Increased circulating antibody level, Dementia, Pancytop... ORPHA:77261
Q Fever
Anemia, Increased circulating antibody level, Granuloma, Cryoglobulinemia, Respiratory distress, ... ORPHA:781
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Delayed speech and language development, Absent speech, Dec... OMIM:617062
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Hyperventilation, Tachypnea OMIM:253270
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Bronchiectasis, Increased circulating antibody level, Hypoxemia,... OMIM:181000
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly ORPHA:373
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Scleromyxedema
Paraproteinemia, Exertional dyspnea ORPHA:167635
Alveolar Echinococcosis
Anemia, Increased circulating antibody level, Liver abscess, Abnormal spleen morphology, Cutaneou... ORPHA:284
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Al Amyloidosis
Anemia, Howell-Jolly bodies, Increased circulating antibody level, Dyspnea, Nonproductive cough, ... ORPHA:85443
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Aapoaiv Amyloidosis
Paraproteinemia, Chronic pulmonary obstruction ORPHA:439232
Cysticercosis
Increased circulating antibody level, Apathy, Dementia, Emotional lability, Mental deterioration,... ORPHA:1560
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Nijmegen Breakage Syndrome
T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Delayed speech and language development, Re... OMIM:251260
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Splenomegaly, Decreased circulating IgA level OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Delayed speech and language development, Decreased circulating IgA level, Thrombocytosis, Decreas... OMIM:212065
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Thrombocytopenia, Decreased specific anti-polysaccharide ... OMIM:614576
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Autoimmune thrombocyto... ORPHA:293978
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Recurrent sinusitis, Pancytopenia, Hepa... OMIM:615688
Viss Syndrome
Pulmonary arterial hypertension, Hypereosinophilia, Pneumothorax, Asthma, Increased circulating I... OMIM:619472
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation, Panic attack ORPHA:420492
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Joubert Syndrome 8
Hyperventilation, Absent speech OMIM:612291
Trichothiodystrophy 1, Photosensitive
Asthma, Delayed speech and language development, Decreased circulating IgG level OMIM:601675
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating antibody level... ORPHA:3132
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Splenomegaly, Decreased circulating antibody level OMIM:248500
Intellectual Developmental Disorder, Autosomal Dominant 54
Aggressive behavior, Neutropenia, Delayed speech and language development, Absent speech, Apnea, ... OMIM:617799
Dubowitz Syndrome
Delayed speech and language development, Acute lymphoblastic leukemia, Decreased circulating IgA ... OMIM:223370
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leuko... OMIM:610377
Aicardi-Goutieres Syndrome 7
Anemia, Hemolytic anemia, Increased circulating antibody level, Irritability, Absent speech, Panc... OMIM:615846
Rett Syndrome
Intermittent hyperventilation, Apnea, Motor deterioration OMIM:312750
Vici Syndrome
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... OMIM:242840
Lysinuric Protein Intolerance
Respiratory insufficiency, Leukopenia, Anemia, Cognitive impairment, Decreased circulating antibo... ORPHA:470
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Joubert Syndrome 17
Hyperventilation OMIM:614615
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Pitt-Hopkins Syndrome
Aggressive behavior, Echolalia, Self-injurious behavior, Happy demeanor, Absent speech, Abnormal ... ORPHA:2896
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-biting, Absent speech, Hyperventilation, Self-mutilation, Central apnea, Sleep apnea, Reduce... ORPHA:522077
Hennekam Syndrome
Respiratory insufficiency, Decreased circulating antibody level, Lymphopenia, Chylothorax, Spleno... ORPHA:2136
Diarrhea 10, Protein-Losing Enteropathy Type
Pleural effusion, Decreased circulating antibody level OMIM:618183
Cartilage-Hair Hypoplasia
Respiratory insufficiency, Anemia, Cognitive impairment, Decreased circulating antibody level, Ne... ORPHA:175
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreased circulating antibody level, ... ORPHA:227990
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Hyperventilation, Normochromic anemia OMIM:618775
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Reduced so... ORPHA:33364
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreased circulating antibody level, ... ORPHA:227982
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Cholera
Irritability, Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Intellectual Developmental Disorder, Autosomal Dominant 57
Delayed speech and language development, Hyperventilation, Anxiety OMIM:618050
Marburg Hemorrhagic Fever
Leukopenia, Aggressive behavior, Increased circulating antibody level, Reticulocytosis, Lymphopen... ORPHA:99826
Trichohepatoenteric Syndrome 1
Splenomegaly, Cognitive impairment, Decreased circulating antibody level, Thrombocytosis, Increas... OMIM:222470
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia, Laryngotracheomalacia, Decreased circulating IgG level OMIM:271510
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Leukocyte Adhesion Deficiency Type Ii
Anemia, Abnormal isohemagglutinin level, Neutrophilia, Recurrent pneumonia, Leukocytosis, Microcy... ORPHA:99843
Syndromic Diarrhea
Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean platelet volume, Lymphopenia, ... ORPHA:84064
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Self-injurious behavior, Absent speech OMIM:610954
Gaucher Disease
Respiratory insufficiency, Pulmonary arterial hypertension, Anemia, Increased circulating antibod... ORPHA:355
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Biotinidase Deficiency
Apnea, Hyperventilation, Respiratory distress ORPHA:79241
Cocaine Intoxication
Pneumothorax, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea ORPHA:90068
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Increased circulatin... ORPHA:91500
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Absent speech OMIM:300749
Acute Liver Failure
Hypocapnia, Abnormal respiratory system physiology, Emotional lability, Euphoria, Abnormal patter... ORPHA:90062
Thrombocytopenia-Absent Radius Syndrome
Anemia, Decreased circulating antibody level, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thr... OMIM:274000
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Hyperventilation, Episodic respiratory distress ORPHA:255210
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Anemia, Decreased circulating antibody level ORPHA:247598
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Secretory IgA deficiency, Decreased circulating IgG level, Emphysema ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level, Happy demeanor, Absent speech, Expressive languag... ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Impaired social interactions, Decreased circulating antibody level, Happy demeanor, Anx... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level, Happy demeanor, Absent speech, Expressive languag... ORPHA:261552
Pallister-Killian Syndrome
Apneic episodes in infancy, Hyperventilation, Absent speech 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nipal3tm45716(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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