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Gene: Reg3g MGI:109406

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Gene Summary

Name:
regenerating islet-derived 3 gamma
Synonyms:
RegIII (gamma)

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Reg3gtm1a(KOMP)Wtsi HOM Early adult 3.35×10-10
increased circulating HDL cholesterol level Reg3gtm1a(KOMP)Wtsi HOM Early adult 3.90×10-10
increased circulating cholesterol level Reg3gtm1a(KOMP)Wtsi HOM Early adult 1.29×10-10

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Legacy Phenotype Associated Images
Reg3gtm1a(KOMP)Wtsi
HOM, Female, WTSI
Reg3gtm1a(KOMP)Wtsi
HOM, Female, WTSI
Reg3gtm1a(KOMP)Wtsi
HOM, Female, WTSI
Reg3gtm1a(KOMP)Wtsi
HOM, Female, WTSI
Reg3gtm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 70 images

Reg3gtm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

Human diseases caused by Reg3g 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 Reg3g by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... OMIM:617765
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ... OMIM:619281
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymp... OMIM:612692
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Chron... OMIM:619824
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... OMIM:618048
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Diarrhea, Chronic diarrhea, Increase... OMIM:617099
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Chronic diarrhea, T lymphocytopenia, Decreased circulating total... OMIM:619510
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antib... OMIM:607594
Angiostrongyliasis
Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased circulating sp... ORPHA:74
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... OMIM:615285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Chronic diarrhea, Increased circulating Ig... ORPHA:98813
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Ulcerativ... ORPHA:555905
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Ulcerative colitis, Decreased ci... OMIM:617638
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 92
Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched memory B cells, B lymphocy... OMIM:619652
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Chronic lymphatic leukemia, Incr... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Diarrhea, Hepatosplenomegaly, Protracted diarrhea,... ORPHA:169160
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Diarrhea, Decreased circulating IgG level, Partial absenc... OMIM:240500
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... ORPHA:343
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thro... OMIM:616100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopeni... OMIM:614069
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormalit... ORPHA:277
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Diarrhea, Chronic diar... OMIM:260920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of naive T cells, Abnormal immunoglobulin l... ORPHA:276
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 22
Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, Decrea... OMIM:615758
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... OMIM:615934
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocytopenia, I... OMIM:618108
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M... ORPHA:91139
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Increased circulating IgG level, Increa... OMIM:209950
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopen... ORPHA:436159
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... OMIM:275350
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... OMIM:144650
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Increased circulating IgG level, Decreased C... OMIM:618495
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Xq28 (MECP2) duplication
Constipation, Gastroesophageal reflux, Decreased circulating IgA level, Dysphagia DECIPHER:45
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, ... OMIM:242860
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... OMIM:615559
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Secretory diarrhea, Vomiting OMIM:616069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Chronic diarrhea, Decreased circulating antibody level, Decrease... ORPHA:90362
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Increa... OMIM:243700
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level, Gastrointestinal inflammation ORPHA:186
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune th... OMIM:614700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Recurrent aphthous... ORPHA:275
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea, Eosinophilia, Increased circulating IgE level OMIM:618523
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Myeloma, Multiple
Paraproteinemia OMIM:254500
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating IgG4 level, Increased circulating IgE level, Hypere... ORPHA:449400
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Chronic diarrhea, Increased circulating IgE le... OMIM:602450
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Melena, Leukopenia, Vomiting, Increased circulating antibo... ORPHA:319218
Agammaglobulinemia, X-Linked
Chronic diarrhea, Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymph... OMIM:300755
Boutonneuse Fever
Diarrhea, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Nausea, T... ORPHA:83313
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Leukope... ORPHA:2298
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Parotitis, Increased circulating interleukin 8... OMIM:256040
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Increased circulat... ORPHA:79078
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Postinfectious Vasculitis
Increased circulating IgA level, Gastrointestinal inflammation, Abnormality of humoral immunity, ... ORPHA:48435
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Diarrhea, Abnormal T cell subset dist... ORPHA:221139
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Pyoderma Gangrenosum
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decreased circulating IgG le... OMIM:620040
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia ORPHA:171442
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, Ileus, Increased c... OMIM:304790
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Chronic diarrhea, Acute lympho... OMIM:208900
Papa Syndrome
Increased circulating antibody level, Crohn's disease ORPHA:69126
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... ORPHA:397596
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Bloody diarrhea OMIM:614328
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Chronic diarrhea, Decreased circulating antibo... OMIM:300972
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Diarrhea, Iron deficiency anemia, Vomiting, Recurrent aphthous stomatitis, Ste... OMIM:212750
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Chronic constipation, Decreased circula... ORPHA:79330
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Decreased c... OMIM:613385
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Chronic diarrhea, Decreased circulating... ORPHA:90363
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Vomiting, Nausea ORPHA:90003
Caffey Disease
Increased circulating antibody level ORPHA:1310
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Splenomegaly, Ulcerative colitis, Increased circulating IgG level, I... ORPHA:2137
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Zika Virus Disease
Increased circulating IgM level, Vomiting, Thrombocytopenia ORPHA:448237
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Gastritis, Splenomegaly, Diarrhea, Decreased circulating t... OMIM:619381
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Vomiting, Steatorrhea, Thrombocytosis, Decreased circulating IgG level, Decreased circu... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Ileus, Constipation, Dysphagia, Decreased circulating IgA level OMIM:613327
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Xerostomia, Incr... ORPHA:449432
Lassa Fever
Increased circulating IgM level, Diarrhea, Dysphagia ORPHA:99824
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytopenia, De... OMIM:620005
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Diarrhea... OMIM:610377
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Decreased circulating total IgM, Decreased circulating IgG leve... ORPHA:183675
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Constipation, Decreased circulating IgA level, Decreased circula... OMIM:617062
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Dubowitz Syndrome
Aplastic anemia, Chronic diarrhea, Acute lymphoblastic leukemia, Gastroesophageal reflux, Decreas... OMIM:223370
Riddle Syndrome
Decreased circulating total IgM, Diarrhea, Decreased circulating IgG level, Decreased circulating... ORPHA:420741
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia OMIM:170100
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopenia, Splenomegaly, Ileus, Secreto... ORPHA:37042
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... ORPHA:77259
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Scleromyxedema
Paraproteinemia, Gastroesophageal reflux, Dysphagia, Hypoperistalsis ORPHA:167635
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Al Amyloidosis
Gastrointestinal hemorrhage, Howell-Jolly bodies, Gastroparesis, Xerostomia, Increased circulatin... ORPHA:85443
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Encephalitis Lethargica
Increased circulating antibody level, Bowel incontinence ORPHA:83600
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Gastroesophageal reflux, Decreased circulating IgA level ORPHA:369837
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Vomit... ORPHA:297
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... OMIM:617303
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Ulcerative colitis, Increased circulating IgG level, Inflammation of the large intestine, Granulo... ORPHA:562639
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Vomiting, Increased circulating antibody... ORPHA:284
Japanese Encephalitis
Neutrophilia, Diarrhea, Increased circulating IgM level, Vomiting, Increased circulating antibody... ORPHA:79139
Rift Valley Fever
Hematemesis, Melena, Increased circulating IgG level, Anemia, Increased circulating IgM level, Th... ORPHA:319251
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Eosinophilic infiltration of the esophagus OMIM:615508
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytopenia, Diarrhea, Sple... OMIM:615846
Primary Sjögren Syndrome
Normocytic anemia, Thrombocytopenia, Xerostomia, Decreased circulating antibody level, Complement... ORPHA:289390
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... ORPHA:1304
Poems Syndrome
Thrombocytosis, Polycythemia, Increased circulating antibody level ORPHA:2905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Increased circulating antibody level, Cryogl... ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... ORPHA:505248
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Diarrhea, Neutrophilia in presence of infection, Bloody diarrhea, L... ORPHA:99826
Trichinellosis
Increased circulating IgE level, Nausea, Dysphagia ORPHA:863
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Hematemesis, Diarrhea, Leukocyto... ORPHA:99829
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Increased circulating IgG level, I... ORPHA:228123
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Hematemesis, Thrombocytopenia, Diarrhea, Leukocytosis, Splenomegaly, ... ORPHA:99827
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:77261
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Inflammation of the large intestine... OMIM:181000
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Viss Syndrome
Chronic gastritis, Chronic diarrhea, Hypereosinophilia, Increased circulating IgE level, Chronic ... OMIM:619472
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Ulcerative colitis, Hepatosplenomegaly, Polyclonal ... ORPHA:171
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Dysphagia, Thrombocytop... ORPHA:355
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Cysticercosis
Increased circulating antibody level ORPHA:1560
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500

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 Reg3g

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 Reg3g.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nociceptor-derived Reg3γ prevents endotoxic death by targeting kynurenine pathway in microglia. Cell reports (March 2022) Reg3gtm1c(KOMP)Wtsi Reg3gtm1a(KOMP)Wtsi 35263589
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Reg3gtm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Reg3gtm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Reg3gtm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Reg3gtm1a(KOMP)Wtsi PMC5827107
RNAseq expression analysis of resistant and susceptible mice after influenza A virus infection identifies novel genes associated with virus replication and important for host resistance to infection. BMC Genomics (September 2015) Reg3gtm1a(KOMP)Wtsi PMC4557482
Epithelial IL-22RA1-mediated fucosylation promotes intestinal colonization resistance to an opportunistic pathogen. Cell host & microbe (September 2014) Reg3gtm1a(KOMP)Wtsi PMC4190086

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
Reg3gtm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Reg3gtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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