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
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 61
Decreased circulating total IgM, Attention deficit hyperactivity disorder, Decreased circulating ... OMIM:300310
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Respiratory failure, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to unconjugated pneu... OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na... OMIM:619802
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Sneddon Syndrome
Decreased circulating total IgM, Mental deterioration, Lymphopenia OMIM:182410
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, R... ORPHA:83313
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ... ORPHA:397596
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Angiostrongyliasis
Hypereosinophilia, Irritability, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In... OMIM:617388
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu... OMIM:615934
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Lead Poisoning
Abnormality of humoral immunity, Memory impairment, Depression, Imbalanced hemoglobin synthesis, ... ORPHA:330015
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... ORPHA:436159
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Simple Cryoglobulinemia
Progressive neurologic deterioration, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, R... ORPHA:91139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt... OMIM:620565
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Thro... OMIM:613101
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Immunodeficiency 54
Reduced natural killer cell count, Respiratory failure, Splenomegaly OMIM:609981
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Decreased circulating antibody level ORPHA:85317
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Reticular Dysgenesis
Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils ORPHA:33355
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, In... OMIM:260920
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Decreased circulating antibody level OMIM:300635
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased... ORPHA:29073
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Hypoventila... ORPHA:79330
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Xq28 (MECP2) duplication
Decreased circulating IgA level, Depression DECIPHER:45
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Rasmussen Subacute Encephalitis
Memory impairment, Emotional lability, Irritability, Attention deficit hyperactivity disorder, Co... ORPHA:1929
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Eosinophilia ORPHA:2314
Lassa Fever
Increased circulating IgM level ORPHA:99824
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Tick-Borne Encephalitis
Depression, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Diminished abi... ORPHA:297
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:572
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Maternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc... OMIM:617303
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Cognitive impairment ORPHA:100
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Caffey Disease
Increased circulating antibody level ORPHA:1310
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... OMIM:612301
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Selective Igm Deficiency
Decreased proportion of transitional B cells, Cutaneous abscess, Paraproteinemia, Decreased propo... ORPHA:331235
Tularemia
Brain abscess, Cutaneous abscess, Confusion, Leukocytosis, Increased circulating antibody level, ... ORPHA:3392
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... ORPHA:125
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Emotional lability, Decreased c... ORPHA:420741
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Trichinellosis
Increased circulating IgE level, Confusion, Memory impairment, Irritability ORPHA:863
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Leukopenia, Increased circulating IgA le... ORPHA:2298
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemi... ORPHA:37042
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Primary Biliary Cholangitis
Increased circulating IgA level, Splenomegaly, Increased circulating IgM level ORPHA:186
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... OMIM:601495
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula... ORPHA:90363
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Bloom Syndrome
Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Decreased circulating... OMIM:210900
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Wolfram Syndrome 2
Depression, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Autoimmune Hepatitis
Increased circulating IgG level, Depression, Splenomegaly, Increased circulating antibody level ORPHA:2137
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Cognitive impairment, Increased circulating antibo... ORPHA:79139
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Pneumocystosis
Abnormal neutrophil count, Respiratory failure, Increased circulating antibody level ORPHA:723
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level, Hypoventilation OMIM:606056
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma ORPHA:562639
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Macrocephaly/Autism Syndrome
Lymphopenia, Decreased circulating antibody level, Short attention span, Splenomegaly OMIM:605309
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul... ORPHA:183675
Encephalitis Lethargica
Hyperventilation, Mental deterioration, Increased circulating antibody level ORPHA:83600
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom... OMIM:620376
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophi... ORPHA:381
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Brucellosis
Depression, Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Throm... ORPHA:1304
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Memory impairment, Splenomegaly, Leuk... ORPHA:33226
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil... OMIM:615952
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior ORPHA:444002
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Cognitive impairment ORPHA:935
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:353298
Postinfectious Vasculitis
Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir... ORPHA:48435
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level OMIM:619750
Igg4-Related Kidney Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449395
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... OMIM:615468
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... OMIM:243150
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi... ORPHA:540
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Cognitive impairment, Increased circ... ORPHA:228123
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Mental deterioration, Attention deficit hyperactivity disorder, Dementia ORPHA:52368
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level ORPHA:319218
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level OMIM:170100
Hsd10 Disease
Short attention span, Abnormal social behavior ORPHA:391417
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Childhood Absence Epilepsy
Hyperventilation, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
X-Linked Agammaglobulinemia
Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Crimean-Congo Hemorrhagic Fever
Confusion, Pancytopenia, Leukopenia, Leukocytosis, Emotional lability, Splenomegaly, Thrombocytop... ORPHA:99827
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Leukemia, Pure ... ORPHA:99867
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia OMIM:617591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Pitt-Hopkins-Like Syndrome 1
Hyperventilation, Attention deficit hyperactivity disorder, Progressive language deterioration, R... OMIM:610042
Igg4-Related Pachymeningitis
Mental deterioration, Increased circulating IgG4 level, Reduced circulating complement concentrat... ORPHA:449427
Good Syndrome
Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Gaucher Disease
Splenic infarction, Depression, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:355
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis OMIM:226300
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Pancytopenia, Splenomegaly, Hypersplenism OMIM:613385
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Celiac Disease, Susceptibility To, 1
Depression, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Thrombocy... OMIM:212750
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Irritability OMIM:613070
Gaucher Disease Type 1
Splenic infarction, Depression, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Sple... ORPHA:77259
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Depression, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Abnormal cytok... ORPHA:158048
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Cysticercosis
Mental deterioration, Memory impairment, Confusion, Emotional lability, Increased circulating ant... ORPHA:1560
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation, Attention deficit hyperactivity disorder, Depression, Cognitive impairment ORPHA:98784
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Irritability,... OMIM:618278
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ... ORPHA:99829
Common Variable Immunodeficiency
Lymphopenia, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia, Hem... ORPHA:1572
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Okur-Chung Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Decreased circulating IgG level, Decreased circulating ... OMIM:617062
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess for... OMIM:147060
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Primary Sjögren Syndrome
Normocytic anemia, Depression, Reduced circulating complement concentration, Lymphopenia, Decreas... ORPHA:289390
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia ORPHA:400
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... ORPHA:79329
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis OMIM:212065
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior ORPHA:1020
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Decreased circulating IgA level, Short attentio... OMIM:223370
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr... ORPHA:227990
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Increased c... OMIM:610377
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly OMIM:248500
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia, Dementia ORPHA:77261
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto... OMIM:615688
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level... ORPHA:293978
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Whim Syndrome
Abnormal neutrophil morphology, Lymphopenia, Decreased circulating antibody level, Neutropenia ORPHA:51636
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr... ORPHA:227982
Holocarboxylase Synthetase Deficiency
Hyperventilation, Thrombocytopenia, Irritability OMIM:253270
Fructose-1,6-Bisphosphatase Deficiency
Hyperventilation, Irritability OMIM:229700
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level... OMIM:619472
Scleromyxedema
Paraproteinemia ORPHA:167635
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Poems Syndrome
Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level ORPHA:2905
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... ORPHA:284
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytopen... ORPHA:781
Al Amyloidosis
Anemia, Howell-Jolly bodies, Increased circulating antibody level ORPHA:85443
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ... ORPHA:470
Trichohepatoenteric Syndrome 1
Splenomegaly, Cognitive impairment, Thrombocytosis, Decreased circulating antibody level, Increas... OMIM:222470
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation, Mental deterioration, Progressive language deterioration, Low frus... ORPHA:163681
Cartilage-Hair Hypoplasia
Anemia, Decreased circulating antibody level, Cognitive impairment, Neutropenia ORPHA:175
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Irritability, Increased circulating antibody level, Thrombocytopenia,... OMIM:615846
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Reduced social rec... ORPHA:33364
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, In... ORPHA:84064
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation, Thrombocytopenia, Normochromic anemia OMIM:618775
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Emotional lability, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Joubert Syndrome 17
Hyperventilation OMIM:614615
Rett Syndrome
Intermittent hyperventilation, Motor deterioration OMIM:312750
Hennekam Syndrome
Lymphopenia, Decreased circulating antibody level, Splenomegaly ORPHA:2136
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... ORPHA:91500
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Confusion, Lymphopenia, Abnormal lymphocyte morphology, Le... ORPHA:99826
Chronic Pneumonitis Of Infancy
Hyperventilation ORPHA:91359
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperventilation, Neutropenia, Irritability OMIM:617799
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Hyperventilation OMIM:617903
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Abnormal isohemagglutinin level, Neutrophilia, Anemia ORPHA:99843
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Cholera
Hyperventilation, Irritability ORPHA:173
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Fructose-1,6-Bisphosphatase Deficiency
Intermittent hyperventilation, Irritability ORPHA:348
Joubert Syndrome 8
Hyperventilation OMIM:612291
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a... OMIM:274000
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:247598
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation, Attention deficit hyperactivity disorder OMIM:618050
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Hepatosplenomegaly, Low f... ORPHA:646
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Acute Liver Failure
Depression, Confusion, Emotional lability, Euphoria, Thrombocytopenia, Hyperventilation ORPHA:90062
Cocaine Intoxication
Delirium, Hyperventilation, Mania ORPHA:90068
Biotinidase Deficiency
Hyperventilation ORPHA:79241
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Abnormal social behavior, Reduced social reciprocity ORPHA:177907
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hyperventilation ORPHA:522077
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Pitt-Hopkins Syndrome
Hyperventilation ORPHA:2896
Mitochondrial Dna-Associated Leigh Syndrome
Hyperventilation ORPHA:255210
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Tuberous Sclerosis Complex
Respiratory failure, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:805
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... ORPHA:363958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Respiratory failure ORPHA:500150
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior ORPHA:314647
Mend Syndrome
Abnormal social behavior ORPHA:401973
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level, Reduced social reciprocity ORPHA:2152
Williams Syndrome
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior, Overfriendliness ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552
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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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