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Gene: Gcnt3 MGI:1919327

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Gene Summary

Name:
glucosaminyl (N-acetyl) transferase 3, mucin type
Synonyms:
2210021I22Rik,  2010013H22Rik,  2210401J11Rik

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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

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 Gcnt3 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 Gcnt3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Malabsorption OMIM:137100
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Increa... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa... OMIM:613502
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level OMIM:609529
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Chronic diarrhea, Recurrent pneumonia, Decreased circulatin... OMIM:619281
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Chronic diarrhea, Recurrent pneumonia... OMIM:300400
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ulcerative colit... OMIM:617638
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di... OMIM:615767
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob... OMIM:300310
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 2
Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurren... OMIM:240500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increased circulating IgE... ORPHA:98813
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, Decre... OMIM:619510
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:607594
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decre... OMIM:619824
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Abnormal B cell ... OMIM:619652
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Feeding difficulties, Recurrent skin infections, Decreased circulating IgA level, Decreased circu... OMIM:617744
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythrod... ORPHA:169160
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric stenosis, Recurrent pneumo... OMIM:615577
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Skin rash, Recurrent aphthous stomatitis, Recurrent gastroenteritis, Ot... ORPHA:275
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Decreased lymphocyte ... OMIM:615592
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Decreased circ... DECIPHER:45
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Di... OMIM:308230
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... OMIM:618282
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... OMIM:610163
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Abnormal natural killer cell physiology, Recurrent sinusitis, Decreased circulating anti... OMIM:613101
Immunodeficiency 48
Diarrhea, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 22
Pericarditis, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, Panniculitis, Decre... OMIM:615758
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating... OMIM:619802
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Diarrhea, Absent isohemagglutinin level, Recurrent otitis media OMIM:613501
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 62
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... OMIM:618459
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Dysgammaglobulinemia, Malabsorption ORPHA:100025
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... ORPHA:90363
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Diarrhe... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Chronic diarrhea, Acute otitis media, Recurrent pneum... ORPHA:35078
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bronchiectasis, Recurrent pne... OMIM:300755
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted diarrhea, Decreased ci... ORPHA:331206
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... OMIM:620282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Decreased lymphocyte prolifer... OMIM:606367
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:616576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglob... OMIM:601457
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... ORPHA:397596
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 46
Chronic oral candidiasis, Chronic diarrhea, Conjunctivitis, Decreased circulating antibody level OMIM:616740
Transcobalamin Ii Deficiency
Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG level, Decreased c... OMIM:275350
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Chronic otitis media ORPHA:33355
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG leve... OMIM:616005
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, S... ORPHA:331235
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Reduced natural killer cell activity, Feeding difficulties in infancy... OMIM:616050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... ORPHA:183675
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decreased circulating IgG le... OMIM:620040
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Reduced antigen-... OMIM:616433
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... OMIM:241600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Malabsorption ORPHA:1116
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... OMIM:618534
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp, Protuberant abdomen, Decreased circulating IgA level ORPHA:457485
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Chronic diarrhea, Recurrent pneum... OMIM:615207
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Vomiting, Re... OMIM:212750
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Congenital Disorder Of Glycosylation, Type Iib
Feeding difficulties in infancy, High palate, Decreased circulating IgA level, Decreased circulat... OMIM:606056
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Gastrointest... ORPHA:74
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cleft palate, Decreased circulating antibody level ORPHA:85317
Myeloma, Multiple
Paraproteinemia OMIM:254500
Bloom Syndrome
Skin rash, Pneumonia, Poor appetite, Gastrostomy tube feeding in infancy, Esophageal neoplasm, Ch... ORPHA:125
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Immunodeficiency 52
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level OMIM:617514
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... ORPHA:343
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating total IgM, Chronic constipation, High... ORPHA:79330
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... ORPHA:540
Smith-Kingsmore Syndrome
Feeding difficulties, Decreased circulating IgA level OMIM:616638
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Chronic diarrhea, Hepatitis... OMIM:613385
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Celiac disease, Decreased circulating antibody level, Interstitial pneumonitis, Abnormal ... OMIM:615952
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Constipation, Dysphagia, Decr... OMIM:613327
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Glomeruloneph... OMIM:613496
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Ch... OMIM:600802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Feeding difficulties, Decreased circulating total IgM, Decreased circulating... OMIM:607143
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... OMIM:226300
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Bron... OMIM:615468
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Decreased circulating antibody level OMIM:301045
Riddle Syndrome
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Arthri... ORPHA:420741
Bone Marrow Failure Syndrome 4
Eczema, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Netherton Syndrome
Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE ... OMIM:256500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Bronchiectasis, Recurrent sinusitis, Recur... OMIM:300853
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea, ... OMIM:212065
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... OMIM:308240
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections, Clef... OMIM:620210
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ... OMIM:618048
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... ORPHA:572
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Vomiting, Septic arthritis OMIM:617780
Okur-Chung Neurodevelopmental Syndrome
Protruding tongue, Decreased circulating antibody level, Feeding difficulties, High palate, Const... OMIM:617062
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Chronic diarrhea, Increased cir... ORPHA:169154
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Decreased circulating antibody level, Gastroe... ORPHA:90045
Immunodeficiency 47
Decreased circulating total IgG, Chronic diarrhea, Decreased circulating antibody level, Decrease... OMIM:300972
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Thymoma
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... ORPHA:99867
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Gastroesophageal reflux, Feeding difficulties ORPHA:251009
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency 17
Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anope... OMIM:615607
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Abdominal pain, Increased circulating IgA level, Diarrhea, Chronic diarrhea, Increased... OMIM:617099
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Increased circulating IgA level, Increased circulating IgG level, In... OMIM:603909
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Chronic diarrhea, Bronchiectasis, Decreased circulati... OMIM:208900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Diarrhea, Lymphocytic interstitial pneum... OMIM:618495
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Increased circulating IgG level, ... OMIM:209950
Dubowitz Syndrome
Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Submucous cleft hard palat... OMIM:223370
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Thyroiditis, Uveitis, Increased circulating IgG level, Keratocon... OMIM:617388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Oral leukoplakia, Decreased circulating antibody level OMIM:619767
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Bloom Syndrome
Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... OMIM:210900
Pgm3-Cdg
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level... OMIM:614576
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Hematemesis, Reduced natural killer cell activity, Diarr... OMIM:301000
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Nasogastric tube feeding in infancy, Decreased circulating total IgM, Gastro... ORPHA:369837
Icf Syndrome
Macroglossia, Decreased circulating antibody level, Malabsorption, Protruding tongue ORPHA:2268
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV encephalitis, Uveitis, Decreased circulating antibody level, Decreased l... OMIM:615122
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgG level, In... ORPHA:83313
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Feeding difficulties, Increased circulating IgA level OMIM:616395
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Ulcerative... ORPHA:810
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... OMIM:260920
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, Pyoderma, Conju... OMIM:307200
Roifman Syndrome
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... ORPHA:353298
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Decreased circulating antibody le... ORPHA:169105
Monosomy 18Q
High palate, Decreased circulating IgA level ORPHA:1600
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Decreased circulating antibody level OMIM:618165
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohemagglutinin ... OMIM:615559
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Abdominal distention, Hepatitis, Gastrointestina... ORPHA:186
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, High palate, Decreased circulating antibody level OMIM:619750
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Feeding difficulties, Decreased circulating total IgM, Decreased... OMIM:620005
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... OMIM:615934
Griscelli Syndrome
Pyloric stenosis, Hepatitis, Bone marrow hypocellularity, Decreased circulating antibody level ORPHA:381
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Lymphoproliferative Syndrome 1
Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Aganglionic megacolon, Malabsorption ORPHA:935
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Nausea, Abdominal pain, Intestinal ... ORPHA:544482
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Decreased... OMIM:613070
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Alg12-Cdg
Intestinal malrotation, Partial absence of specific antibody response to Haemophilus influenzae t... ORPHA:79324
Syndromic Diarrhea
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hepatoblastoma, Dependency on intravenous n... ORPHA:84064
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abdominal distention, Gastrointestinal dysmoti... ORPHA:90051
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media, Panhypogammaglobulinemia OMIM:602450
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Vici Syndrome
Decreased circulating IgG level, Feeding difficulties in infancy, Feeding difficulties, High pala... ORPHA:1493
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Functional abnormality of the g... ORPHA:29073
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... ORPHA:391487
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Common Variable Immunodeficiency
Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Decreased circulating antibody level, O... ORPHA:1572
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chronic oral candidiasis, Recurrent o... OMIM:301078
Macrocephaly/Autism Syndrome
Recurrent otitis media, High palate, Decreased circulating antibody level OMIM:605309
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... ORPHA:227990
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Esophageal stricture, Increa... OMIM:615816
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Prostatitis, Increased circulating IgE level, Xero... ORPHA:449432
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... OMIM:618183
Cowden Syndrome 1
Colonic diverticula, Thyroiditis, Decreased circulating antibody level, Hamartomatous polyposis, ... OMIM:158350
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... ORPHA:227982
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Anal atresia, Decreased circulating antibody level OMIM:617425
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Chronic mucocutaneous candidiasis, Abnormal circulating interferon-gamma concentration,... ORPHA:79124
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... ORPHA:79078
Mgat2-Cdg
Gastroparesis, Decreased circulating antibody level, Feeding difficulties, Gastroesophageal reflu... ORPHA:79329
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Erythroderma... OMIM:601675
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, In... OMIM:181000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Feeding difficulties, Decreased circulating total IgM, Constipation, H... OMIM:618162
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Cl... OMIM:251260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Abdominal pain, Erythema nodosum, Esophageal varix, Decreased circulating anti... OMIM:615688
Distal Deletion 19P
Cleft palate, Decreased circulating antibody level ORPHA:96129
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Abnormal lymphocyte proliferation... OMIM:619573
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... ORPHA:707
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Protuberant abdomen, Decreased circulating antibody level OMIM:242900
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... ORPHA:3132
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Hepatitis, Uveitis, Melena, Increased circulating IgG level, In... ORPHA:319251
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammat... ORPHA:79259
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Brucellosis
Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious encephalitis... ORPHA:1304
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Decreased circulating antibody level OMIM:248500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent pneumonia, Thyroiditis, Bronchiectasis, Decreased circulating ... ORPHA:293978
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Lysinuric Protein Intolerance
Glomerulonephritis, Diarrhea, Decreased circulating antibody level, Feeding difficulties, Abnorma... ORPHA:470
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... ORPHA:449395
Trichohepatoenteric Syndrome 1
Villous atrophy, Decreased circulating antibody level, Intractable diarrhea, Hepatic failure, Bif... OMIM:222470
Glycogen Storage Disease Ib
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... OMIM:232220
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Smooth ton... ORPHA:79396
Vici Syndrome
Decreased circulating IgG2 level, Decreased T cell activation, Cleft palate, Chronic mucocutaneou... OMIM:242840
Hennekam Syndrome
Pyloric stenosis, Decreased circulating antibody level, Erysipelas, Malabsorption ORPHA:2136
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Keratitis, Chronic diarrhea, Recurrent pneumonia, Narrow... ORPHA:99843
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Aganglionic megacolon, Malabsorption ORPHA:175
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Poor appetite, Decreased circulating antibody level ORPHA:247598
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Increased circulating IgM level, Conjunctivitis, Bone marrow hypocellularity, Recur... ORPHA:505248
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, High, narrow palate, Keratoconjunctivitis sicca, Con... ORPHA:33364
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Meckel diverticulum, Cleft palate, Decreased circulating antibody level OMIM:274000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Decreased circulating IgG level, Feeding difficulties OMIM:618278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pyloric s... ORPHA:83617
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99226
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, S... ORPHA:500150
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level ORPHA:93357
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Dec... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Dec... ORPHA:261552

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 Gcnt3

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 Gcnt3.

No publications found that use IMPC mice or data for Gcnt3.

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
Gcnt3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gcnt3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gcnt3em1(IMPC)Marc Deletion Mice

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