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Gene: Nipal3 MGI:1921802

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Gene Summary

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

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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 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency 95
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... OMIM:619773
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... OMIM:300400
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... OMIM:618982
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 20
Wheezing, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural killer cell act... OMIM:615707
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp... OMIM:618108
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... OMIM:617638
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:300310
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decrea... OMIM:619752
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Increased circulating IgE level, Recurrent pneumonia, Lack of T cell function, Abnorma... ORPHA:277
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Incre... OMIM:243700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Recurre... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Lymphopenia, Decreased proportion of naive ... ORPHA:276
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased circulatin... OMIM:618394
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increase... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ... OMIM:616005
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Increased circulating IgE level, Wheezing, Asthma, Leukoc... ORPHA:2902
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
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
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Bronchiectasis OMIM:618523
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectas... OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Interstitial pneumonitis, Decreased proportion of class-switched... OMIM:614878
Sneddon Syndrome
Mental deterioration, Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia, Cutaneous abscess OMIM:147060
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Boutonneuse Fever
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia... ORPHA:83313
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Igg4-Related Aortitis
Increased circulating IgG4 level, Asthma, Increased circulating IgE level, Hypereosinophilia, Inc... ORPHA:449400
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Schnitzler Syndrome
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia ORPHA:37748
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Interstitial Lung Disease 2
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... OMIM:178500
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, B ... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Sinusitis, Severe B lymphocytopenia, Pneumonia, A... OMIM:102700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Sterile absce... OMIM:618282
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency, Common Variable, 10
Asthma, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circ... OMIM:615577
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Tachypnea, Increased circulating IgG level, Leukopenia, Thromboc... OMIM:615934
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis,... OMIM:240500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Aspergillosis
Sinusitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Increased circulating IgE level, Chronic pul... ORPHA:1163
Netherton Syndrome
Allergic rhinitis, Asthma, Increased circulating IgE level, Hypereosinophilia, Chronic rhinitis, ... OMIM:256500
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulat... OMIM:618495
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Respiratory insufficiency, Decreased circulating antibody level OMIM:618042
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Immunodeficiency 23
Hemolytic anemia, Allergic rhinitis, Abscess, Eosinophilia, Asthma, Increased circulating IgE lev... OMIM:615816
Lead Poisoning
Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy... ORPHA:330015
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... ORPHA:436159
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Chronic neutropenia, Autoimmune thrombocyto... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Decreased lymphocyte proliferation in response to anti-CD3, Abnorm... ORPHA:221139
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Agammaglobulinemia, X-Linked
Wheezing, Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Decreased circulating total Ig... OMIM:300755
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... ORPHA:158057
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... OMIM:616576
Immunodeficiency 54
Splenomegaly, Respiratory failure, Reduced natural killer cell count, Respiratory insufficiency OMIM:609981
Immunodeficiency 92
Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia... OMIM:619652
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... OMIM:613101
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Netherton Syndrome
Asthma, Emphysema, Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Progressive neurologic deterioration, Monoclonal immunog... ORPHA:91139
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... ORPHA:284227
Lassa Fever
Dyspnea, Increased circulating IgM level, Cough ORPHA:99824
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Chilblain Lupus
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Decreased circulating antibody level, Hepatosplenom... ORPHA:79330
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Confusion, Thrombocytopenia, Leukocytosis, Increa... ORPHA:3392
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Decreased circulating antibody level ORPHA:85317
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia, Cough ORPHA:2314
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:33355
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circulating total IgM, Restrictive v... ORPHA:420741
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... OMIM:608233
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thromboc... ORPHA:572
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circulating ... OMIM:617303
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... ORPHA:507
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia ORPHA:100025
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia ORPHA:171442
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating... OMIM:607143
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Decreased c... OMIM:615122
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... OMIM:601495
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, De... ORPHA:79124
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Xq28 (MECP2) duplication
Depression, Decreased circulating IgA level DECIPHER:45
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Rasmussen Subacute Encephalitis
Emotional lability, Irritability, Cognitive impairment, Attention deficit hyperactivity disorder,... ORPHA:1929
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Thr... OMIM:620005
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Abscess, Chronic... ORPHA:125
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Decreased circulating total IgM, Leukemia, Decreased cir... OMIM:210900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Tick-Borne Encephalitis
Leukocytosis, Depression, Increased circulating IgG level, Increased circulating IgM level, Dimin... ORPHA:297
Maternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Pneumonia, Allergic rhinitis, Asthma, Recurrent pneumonia, Bronchiectasis, Decreas... ORPHA:183675
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgA lev... ORPHA:2298
Ataxia-Telangiectasia
Lymphopenia, Cognitive impairment, Decreased circulating antibody level ORPHA:100
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Pneumonia, Splenomegaly, ... OMIM:619381
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Spleno... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Japanese Encephalitis
Respiratory distress, Neutrophilia, Increased circulating IgM level, Respiratory paralysis, Incre... ORPHA:79139
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Thrombocytopenia, Bronchiectasis, Decreased ci... ORPHA:169105
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Thrombocytopenia, Hepatosplenomegaly, Stridor, Increased circulating IgM le... ORPHA:505248
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Trichinellosis
Memory impairment, Irritability, Increased circulating IgE level, Confusion ORPHA:863
Waldenström Macroglobulinemia
Cryoglobulinemia, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respira... ORPHA:33226
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibod... OMIM:619750
Ebola Hemorrhagic Fever
Dyspnea, Leukopenia, Increased circulating antibody level, Cough, Lymphopenia, Thrombocytopenia ORPHA:319218
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Immunodeficiency 12
Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiect... OMIM:615468
Encephalitis Lethargica
Mental deterioration, Increased circulating antibody level, Hyperventilation ORPHA:83600
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Decr... ORPHA:353298
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Asthma, Allergic rhinitis OMIM:618162
Autosomal Agammaglobulinemia
Sinusitis, Cough, Bronchiectasis, Agammaglobulinemia, Neutropenia ORPHA:33110
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Prolidase Deficiency
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Increased circ... OMIM:170100
Coccidioidomycosis
Respiratory distress, Pneumonia, Abscess, Eosinophilia, Abnormality of the spleen, Increased circ... ORPHA:228123
Thymoma
Aplastic anemia, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Pure red cell... ORPHA:99867
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Brucellosis
Liver abscess, Lung abscess, Pneumonia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:1304
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Bronchiectasis, Acute lymphoblastic leuk... OMIM:208900
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level, Depression ORPHA:2137
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Dementia, Attention deficit hyperactivity disorder, Aspiration pneumonia, Men... ORPHA:52368
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... OMIM:301074
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... ORPHA:1572
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Postinfectious Vasculitis
Pneumonia, Increased circulating IgA level, Abnormality of humoral immunity, Increased circulatin... ORPHA:48435
Igg4-Related Pachymeningitis
Sinusitis, Confusion, Increased circulating IgG4 level, Eosinophilia, Dyspnea, Mental deteriorati... ORPHA:449427
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... ORPHA:158061
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Macrocephaly/Autism Syndrome
Splenomegaly, Short attention span, Lymphopenia, Decreased circulating antibody level OMIM:605309
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis OMIM:615207
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Dyspnea, Thrombocytopenia, Abnormal T cell morpholog... OMIM:242900
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:444002
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Childhood Absence Epilepsy
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Hyperventilation ORPHA:64280
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Recurrent pneumonia, Agammagl... ORPHA:47
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Cognitive impairment ORPHA:935
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Reduced forced expiratory volume in one second, Hypersplenism, Splenomegaly, Chroni... OMIM:613385
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis,... OMIM:226300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Asthma, Decreased circulating IgA level ORPHA:457485
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... ORPHA:540
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Depression, Decreased circulating antibody level OMIM:604928
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Pitt-Hopkins-Like Syndrome 1
Attention deficit hyperactivity disorder, Progressive language deterioration, Impaired social int... OMIM:610042
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Epistaxis, Confusion, Splenomegaly, Leukocytosis, Emotional lability,... ORPHA:99827
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Immunodeficiency 58
Recurrent cutaneous abscess formation, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, ... OMIM:618131
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... ORPHA:77259
Igg4-Related Ophthalmic Disease
Sinusitis, Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Hsd10 Disease
Short attention span, Abnormal social behavior ORPHA:391417
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Polyclonal elevatio... ORPHA:171
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... OMIM:618278
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Attention deficit hyperactivity disorder, Cognitive impairment, Hyperventilation ORPHA:98784
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Irritability, Apnea, Hyperventilation OMIM:229700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Depression, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA ... OMIM:212750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Primary Sjögren Syndrome
Normocytic anemia, Lymphocytic interstitial pneumonia, Nonproductive cough, Decreased proportion ... ORPHA:289390
Cystic Echinococcosis
Abscess, Eosinophilia, Asthma, Increased circulating antibody level, Splenic cyst, Peritoneal abs... ORPHA:400
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok... ORPHA:158048
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Panhypogammaglobulinemia, Pneumonia, Absent circulating B cells OMIM:307200
Liver Failure, Infantile, Transient
Irritability, Decreased circulating IgG level OMIM:613070
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Whim Syndrome
Sinusitis, Pneumonia, Recurrent pneumonia, Bronchiectasis, Abnormal neutrophil morphology, Decrea... ORPHA:51636
Mgat2-Cdg
Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circu... ORPHA:79329
Poems Syndrome
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect,... ORPHA:2905
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Dementia, Increased circulating antibody level, Pulmonary art... ORPHA:77261
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Holocarboxylase Synthetase Deficiency
Irritability, Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Cysticercosis
Confusion, Emotional lability, Dementia, Increased circulating antibody level, Mental deteriorati... ORPHA:1560
Okur-Chung Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Decreased circulating IgG level, Decreased circulating ... OMIM:617062
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Decreased circulating IgA level OMIM:613327
Q Fever
Respiratory distress, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pleural effu... ORPHA:781
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Scleromyxedema
Paraproteinemia, Exertional dyspnea ORPHA:167635
Aapoaiv Amyloidosis
Paraproteinemia, Chronic pulmonary obstruction ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Dyspnea, Abnormal spleen morphology, Increased circulating antibody ... ORPHA:284
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumonia, Bronchiectasis, Decre... ORPHA:293978
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Decreased circulating antibody level, Hepatosplenomegal... OMIM:615688
Al Amyloidosis
Howell-Jolly bodies, Dyspnea, Nonproductive cough, Increased circulating antibody level, Anemia ORPHA:85443
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Dyspnea, Splenomegaly, Bronchiectasis, Hypoxemia,... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Viss Syndrome
Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypereosinophilia, Increased circ... OMIM:619472
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Dubowitz Syndrome
Short attention span, Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp... OMIM:610377
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... OMIM:251260
Lysinuric Protein Intolerance
Thrombocytopenia, Respiratory insufficiency, Decreased circulating antibody level, Hepatosplenome... ORPHA:470
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... OMIM:242840
48,Xxxy Syndrome
Pulmonary embolism, Asthma, Irritability, Attention deficit hyperactivity disorder, Abnormal soci... ORPHA:96263
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Irritability, A... ORPHA:348
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227990
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Joubert Syndrome 17
Hyperventilation OMIM:614615
Rett Syndrome
Motor deterioration, Apnea, Intermittent hyperventilation OMIM:312750
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Progressive language deterioration, Intermittent hyperventilation, Low frus... ORPHA:163681
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Hennekam Syndrome
Splenomegaly, Respiratory insufficiency, Decreased circulating antibody level, Chylothorax, Lymph... ORPHA:2136
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Leukopenia,... ORPHA:227982
Trichothiodystrophy 1, Photosensitive
Asthma, Decreased circulating IgG level OMIM:601675
Diarrhea 10, Protein-Losing Enteropathy Type
Pleural effusion, Decreased circulating antibody level OMIM:618183
Cartilage-Hair Hypoplasia
Respiratory insufficiency, Decreased circulating antibody level, Cognitive impairment, Neutropeni... ORPHA:175
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Bronchospasm, Neutropenia, Reduced social re... ORPHA:33364
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia, Hyperventilation OMIM:618775
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Pneumonia, Thrombocytopenia, Splenomegaly, Irritability, Increase... OMIM:615846
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... ORPHA:309271
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Cognitive imp... OMIM:222470
Cholera
Irritability, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia OMIM:271510
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Confusion, Nonproductive cough, Neutrophilia in presence of infecti... ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia, Irritability, Apnea, Hyperventilation OMIM:617799
Joubert Syndrome 8
Hyperventilation OMIM:612291
Gaucher Disease
Pancytopenia, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Depression, Increased ci... ORPHA:355
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... ORPHA:309263
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... ORPHA:84064
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Microcytic anemia, Leukocytosis, Recurrent pneumonia, Anemia, Abnormal isohemagglut... ORPHA:99843
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Mania, Delirium, Hyperventilation ORPHA:90068
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bone-marrow foam cells, Splenomegaly, Respiratory insuffici... ORPHA:646
Fg Syndrome Type 1
Pulmonary arterial hypertension, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:93932
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Acute Liver Failure
Confusion, Abnormal respiratory system physiology, Depression, Euphoria, Hypocapnia, Emotional la... ORPHA:90062
Intellectual Developmental Disorder, Autosomal Dominant 57
Attention deficit hyperactivity disorder, Hyperventilation OMIM:618050
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Dihydropyrimidine Dehydrogenase Deficiency
Respiratory failure requiring assisted ventilation, Abnormal social behavior, Irritability, Abnor... ORPHA:1675
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Anemia, Decreased circulating antibody level ORPHA:247598
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Attention deficit hyperactivity disorder, Abnormal social behavior, Impaire... ORPHA:177907
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Pitt-Hopkins Syndrome
Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Tuberous Sclerosis Complex
Respiratory distress, Depression, Respiratory failure, Attention deficit hyperactivity disorder, ... ORPHA:805
Sponastrime Dysplasia
Recurrent pneumonia, Neutropenia, Decreased circulating antibody level ORPHA:93357
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Attention deficit hyperactivity disorder, Tracheomalacia, Abnormal social... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Attention deficit hyperactivity disorder, Tracheomalacia, Abnormal social... ORPHA:363958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Decreased circulating IgG level, Secretory IgA deficiency, Emphysema 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, Impaired social interactions, Decreased circulating antibody level ORPHA:2152
Williams Syndrome
Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, 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
Apneic episodes in infancy, 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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