Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

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
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:137100
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
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
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:609529
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Masp2 Deficiency
Complement deficiency, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ... OMIM:614699
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Chronic di... OMIM:617765
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 70
Furuncle, Decreased circulating antibody level, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci... OMIM:619281
Agammaglobulinemia 5, Autosomal Dominant
High palate, Agammaglobulinemia OMIM:613506
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Chronic diarrhea, Pneumonia, Agam... OMIM:300400
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Frequent Giardia l... OMIM:300310
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Colitis OMIM:617006
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Decreased ... OMIM:615767
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 1
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Conjunctivitis, Impaired ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Decreased circu... OMIM:616100
Immunodeficiency 15B
Decreased circulating antibody level, Chronic diarrhea, Agammaglobulinemia OMIM:615592
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Diarrhea, Pneumonia OMIM:269840
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Diarrhea, Agammaglobulinemia OMIM:613501
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Increased circulating antibody level, Pneumonia, Anorexia... ORPHA:169160
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Pyloric stenosis, Decreased circulating IgG level, F... OMIM:615577
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Colitis,... OMIM:300635
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Diarrhea, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent gastroenteritis, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile r... ORPHA:275
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Atopic dermatitis, Increased circulating IgE level, Recurrent otitis media, De... OMIM:618944
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Diarrhea, Agammaglobulinemia, Recurren... OMIM:612692
Okur-Chung Neurodevelopmental Syndrome
Feeding difficulties, Decreased circulating antibody level, Constipation, Decreased circulating I... OMIM:617062
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, Colitis OMIM:615190
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Protruding tongue, Diar... OMIM:242860
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
Xq28 (MECP2) duplication
Dysphagia, Constipation, Gastroesophageal reflux, Decreased circulating IgA level, Feeding diffic... DECIPHER:45
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... OMIM:613101
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Bronchi... OMIM:614700
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted... OMIM:209920
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Erythroderma, Increased circula... OMIM:610163
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Decreased circulating IgG level, Sec... OMIM:600351
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Pneumonia, Otitis media, Sinusitis OMIM:312863
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Diarrhea, Decreased circulating IgA level, Vomiting, Decreased c... OMIM:275350
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Decreased circulating antibody level, Pneumonia OMIM:614069
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Pustule, Chronic oral candidiasis, Partial IgA deficiency, Lack of T cell function, Ch... ORPHA:35078
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Dec... OMIM:608809
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Pneumonia, Recurrent cu... ORPHA:276
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Malabsorption, Decreased circulating IgG level OMIM:152800
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Cystic Fibrosis
Decreased circulating antibody level, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, Diarrhea, Otitis media, A... OMIM:601457
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Chronic oral candidiasis, Decreased specific anti-polysaccharide... OMIM:606367
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... OMIM:616576
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Dysgammaglobulinemia, Abdominal pain ORPHA:100025
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis OMIM:193670
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Reticular Dysgenesis
Skin rash, Decreased circulating antibody level, Chronic otitis media, Diarrhea, Malabsorption ORPHA:33355
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Immunodeficiency 46
Conjunctivitis, Decreased circulating antibody level, Chronic diarrhea, Chronic oral candidiasis OMIM:616740
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Villous atrophy, Episodic vomiting, Feeding diff... OMIM:616050
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul... OMIM:618534
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Protuberant abdomen, Lactose intolerance, Decreased circulating IgA level, Intestinal polyp ORPHA:457485
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Pneumonia, Absent specific ant... OMIM:102700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Malabsorption ORPHA:1116
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Celiac Disease, Susceptibility To, 1
Abdominal pain, Thyroiditis, Stomatitis, Steatorrhea, Diarrhea, Decreased circulating IgA level, ... OMIM:212750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased proportion of CD25+ mast cells, Increased circulat... ORPHA:2442
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Bronchi... OMIM:618982
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Bloom Syndrome
Bronchiectasis, Malar rash, Decreased circulating IgA level, Decreased circulating total IgM, Dec... OMIM:210900
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Feeding difficulties OMIM:616638
Lipodystrophy, Congenital Generalized, Type 4
Feeding difficulties, Dysphagia, Constipation, Decreased circulating IgA level, Ileus, Pyloric st... OMIM:613327
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Chronic oral candidiasis, Decreased circulating total IgM, Decreased sp... ORPHA:221139
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Malabsorption, Chronic otitis media, Conjunctivitis, Hepatitis, Diarrh... ORPHA:33110
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Angiostrongyliasis
Increased circulating IgM level, Projectile vomiting, Abdominal pain, Constipation, Nausea, Gastr... ORPHA:74
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Increased circulating IgA lev... ORPHA:343
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased circulating antibody level, Septic arthritis, Recurrent pneumonia, Vomiting, Eczema OMIM:617780
Bloom Syndrome
Skin rash, Poor appetite, Recurrent gastroenteritis, Decreased circulating antibody level, Gastro... ORPHA:125
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... OMIM:619220
Immunodeficiency 76
Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Chronic diarrhea, Panhypogammaglobulinemia, Pneumonia, ... OMIM:600802
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hashimoto thyroiditis, Chronic diarrhea, Gastrostomy tube feeding in inf... OMIM:613385
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Decreased circulating antibody level, Pneumonia, Diarrhea, Vomiting, Abnormal int... OMIM:226300
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Abnormal intes... OMIM:256500
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Glomerulonephritis, Complete or near-complete absence of... OMIM:613496
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Fulminant hepatitis, Dysga... OMIM:308240
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Diarrhea, Pneumonia, Otitis media OMIM:602450
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Riddle Syndrome
Chronic sinusitis, Abdominal pain, Recurrent sinusitis, Pneumonia, Diarrhea, Decreased circulatin... ORPHA:420741
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Interstitial pneumonitis, Decreased circulating antibody level... OMIM:615952
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Increased serum interferon-gamma level, Erythroderma, Decreased circulating antibody l... ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Bone marrow hypocellularity OMIM:618116
Ataxia-Telangiectasia
Defective B cell differentiation, Bronchiectasis, Decreased circulating IgG2 level, Decreased cir... OMIM:208900
Immunodeficiency 52
Decreased circulating antibody level, Bronchiectasis, Recurrent pneumonia OMIM:617514
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased liver function OMIM:301045
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Dubowitz Syndrome
Gastroesophageal reflux, Chronic diarrhea, Episodic vomiting, Velopharyngeal insufficiency, Decre... OMIM:223370
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Immunodeficiency 47
Decreased circulating antibody level OMIM:300972
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Immunodeficiency 43
Decreased circulating IgG level, Bronchiectasis OMIM:241600
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Decreased circulating IgA level, Vomiting, Feeding difficulties in infancy, Decreased c... OMIM:212065
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Chronic hepatitis due to cryptosporidium infection, Abnormality of humoral immunity, L... ORPHA:572
Immunodeficiency 36
Decreased circulating antibody level, Chronic diarrhea, Bronchiectasis OMIM:616005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Bloody diarrhea, Anoperineal fis... OMIM:618213
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Erythroderma, Increased circulating antibody level, Chronic diar... ORPHA:169154
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Re... OMIM:300853
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Abdominal pain, Chronic diarrhea, Panniculitis, Diarr... OMIM:617099
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic diarrhea, Chronic otitis media, Conjunctivitis, Hepatitis... ORPHA:47
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Recurrent skin infections, Malabsorption, Arthritis ORPHA:90363
Hereditary Folate Malabsorption
Glossitis, Decreased circulating antibody level, Gastroesophageal reflux, Cheilitis, Anorexia, Di... ORPHA:90045
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Gastrointestinal hemorrhage, Malar rash, Increased circulating I... OMIM:603909
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Panhypogammaglobulinemia, Feeding difficulties ORPHA:251009
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Hepatitis, Colitis OMIM:614602
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Perianal abscess... OMIM:618935
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Punctate keratitis, Increased circulating IgG level, Keratoconjunctivitis s... OMIM:617388
Thymic Tumor
Dysphagia, Dysgammaglobulinemia, Pericarditis ORPHA:100100
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Morphological abnormality of the gastrointestinal tract, Gastroesophageal reflux, Nasogastric tub... ORPHA:369837
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Colitis, Increased circulating interleukin 8, Recurrent pneumon... OMIM:301220
Pgm3-Cdg
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Immunodeficiency 59 And Hypoglycemia
Acne inversa, Arteritis, Decreased circulating antibody level, Stomatitis, Diarrhea, Encephalitis... OMIM:233600
Igg4-Related Aortitis
Increased circulating IgE level, Abdominal pain, Increased inflammatory response, Increased circu... ORPHA:449400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Panhypo... OMIM:307200
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Icf Syndrome
Protruding tongue, Macroglossia, Malabsorption, Decreased circulating antibody level ORPHA:2268
Wolfram Syndrome 2
Decreased circulating antibody level, Gastric ulcer, Impaired collagen-induced platelet aggregation OMIM:604928
Netherton Syndrome
Skin rash, Increased circulating IgE level, Erythroderma, Decreased circulating antibody level, E... ORPHA:634
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron... OMIM:614576
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Increased circulating IgD lev... OMIM:260920
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten... ORPHA:90038
Macrocephaly/Autism Syndrome
Decreased circulating antibody level OMIM:605309
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Uveitis, Decreased lymphocyte proliferation in response to ... OMIM:615122
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:301000
Shigellosis
Peritonitis, Paralytic ileus, Acute colitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Good Syndrome
Bronchiectasis, Dysphagia, Decreased circulating antibody level, Diarrhea, Sinusitis, Recurrent s... ORPHA:169105
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Abdominal pain, Nausea, Maculopapular exanthema, Incr... ORPHA:83313
Thrombocytopenia 1
Eczema, Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Thymoma
Skin rash, Pericarditis, Thyroiditis, Dysphagia, Decreased circulating antibody level, Xerostomia... ORPHA:99867
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Reduced natural killer cell activity, Increased circulating antibo... OMIM:615559
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgM level, Hepatocellular carcinoma, Hepatit... ORPHA:186
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Malar rash, Pustular rash, Increased circulating IgG level, Increased circula... OMIM:615934
Roifman Syndrome
Eczema, Recurrent otitis media, Decreased circulating antibody level, Recurrent pneumonia ORPHA:353298
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level, Chronic diarrhea OMIM:300953
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Monosomy 18Q
High palate, Decreased circulating IgA level ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iib
High palate, Feeding difficulties in infancy, Decreased circulating antibody level OMIM:606056
Griscelli Syndrome
Decreased circulating antibody level, Hepatitis, Pyloric stenosis, Bone marrow hypocellularity ORPHA:381
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection... ORPHA:2686
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Hematochezia, Abdominal pain OMIM:203300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Bro... OMIM:618986
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Malabsorption, Aganglionic megacolon, Agammaglobulinemia ORPHA:935
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Psoriasiform derma... ORPHA:324964
Primary Intestinal Lymphangiectasia
Abdominal pain, Decreased circulating antibody level, Diarrhea, Ileus, Nausea and vomiting, Malab... ORPHA:90362
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Stomatitis OMIM:613011
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Protracted diarrhea, Diarrhea, Intestin... ORPHA:67
Syndromic Diarrhea
Villous atrophy, Panhypogammaglobulinemia, Colitis, Gastritis, Intractable diarrhea, Dependency o... ORPHA:84064
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Abdominal cramps, Gastrointestinal infarctions, Abdominal ... ORPHA:544482
Popov-Chang syndrome
Decreased circulating antibody level, Recurrent otitis media, Gastroesophageal reflux, Feeding di... OMIM:618428
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy OMIM:618999
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Bronchiectasis, Decreased circulating antibody level, Chronic otit... ORPHA:1572
Vici Syndrome
Feeding difficulties, Decreased circulating IgG2 level, High palate, Feeding difficulties in infa... ORPHA:1493
Mohr-Tranebjaerg Syndrome
Dysphagia, Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating a... ORPHA:51636
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Decreased circulating antibody level, Rheumatoid arthritis, Chronic atrophic gastr... ORPHA:227990
Sepsis In Premature Infants
Gastrointestinal dysmotility, Increased circulating interleukin 6, Functional abnormality of the ... ORPHA:90051
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Esophageal carcinoma, Thyroiditis, Villous atrophy, Hepatitis, Diarrhea, Encephal... ORPHA:391487
Multiple Myeloma
Decreased circulating antibody level, Functional abnormality of the gastrointestinal tract, Incre... ORPHA:29073
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level, Anal atresia OMIM:617425
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Decreased circulating antibody level, Hematochezia, Secretory diarrhea OMIM:618183
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Nijmegen Breakage Syndrome
Recurrent pneumonia, Bronchiectasis, Anal stenosis, Cleft palate, Anal atresia, Diarrhea, Dysgamm... OMIM:251260
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Decreased circulating antibody level, Rheumatoid arthritis, Hashimoto thyroiditis,... ORPHA:227982
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Acute hepatic... ORPHA:171
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Furrowed tongue, Colonic diverticula, High pal... OMIM:158350
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgM level, Increased circulating IgE level, Bronchiectas... OMIM:615816
Trichothiodystrophy 1, Photosensitive
Erythroderma, Chronic diarrhea, Decreased circulating IgG level, Keratoconjunctivitis sicca, Mala... OMIM:601675
Igg4-Related Submandibular Gland Disease
Prostatitis, Sialadenitis, Increased circulating IgE level, Increased circulating antibody level,... ORPHA:449432
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Recurrent gastroenteritis, Chronic hepatic failure, Panhypogamm... ORPHA:79124
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Cheilitis, Esophageal... ORPHA:2908
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Keratoconjunctivitis sic... ORPHA:309031
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level, Feeding difficulties OMIM:607143
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal pain, Erythroderma, Dysphagia, Chronic diarrhea, ... ORPHA:3260
Insulin-Resistance Syndrome Type B
Skin rash, Decreased serum complement factor B, Abnormal salivary gland morphology, Pneumonia, In... ORPHA:2298
Sandifer Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Distal Monosomy 19P13.3
Decreased circulating antibody level, Cleft palate ORPHA:96129
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Feeding difficulties, Abdominal pain, Decreased circulating antibody level, Recurrent ... OMIM:615688
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG2 level, Decreased T cell activation, Chronic mucocuta... OMIM:242840
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... ORPHA:293978
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Conjunctivitis, Diarr... ORPHA:29207
Cocaine Intoxication
Intestinal perforation, Abdominal pain, Gastrointestinal infarctions, Nausea, Colitis, Glomerulon... ORPHA:90068
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Epididymitis, Increased serum interferon-gamma level, Protuberant abdomen, Increase... OMIM:256040
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Panniculitis, Impaired neutrophil chemotaxis, Eczema, High ... ORPHA:3132
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis... ORPHA:707
Primary Sjögren Syndrome
Parotitis, Arteritis, Cryoglobulinemia, Chronic active hepatitis, Thyroiditis, Decreased circulat... ORPHA:289390
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Macroglossia OMIM:248500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Thyroiditis, Hepatocellular carcinoma, ... ORPHA:79259
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal platelet function, Hematemesis, Hematochezia, Chron... ORPHA:906
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Feeding difficulties, Decreased circulating antibody level, Gastrostomy tube feeding in infancy, ... ORPHA:79396
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Brucellosis
Pericarditis, Pneumonia, Anorexia, Increased circulating IgG level, Anterior uveitis, Myocarditis... ORPHA:1304
Lysinuric Protein Intolerance
Feeding difficulties, Abnormality of humoral immunity, Decreased circulating antibody level, Incr... ORPHA:470
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Recurrent gastroenteritis, Abnormal isohemagglutinin level, ... ORPHA:99843
Hennekam Syndrome
Pyloric stenosis, Erysipelas, Malabsorption, Decreased circulating antibody level ORPHA:2136
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Ulcerative colitis, Cleft palate, Bifid uvula, High palate, Feeding diff... OMIM:617137
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Malabsorption, Aganglionic megacolon ORPHA:175
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Increased circulating IgM level, Recurrent gastroenteritis, Conjunctivitis, Decreas... ORPHA:505248
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Decreased circulating antibody level, Seborrheic dermatitis OMIM:274000
Trichothiodystrophy
Panhypogammaglobulinemia, Conjunctivitis, Congenital exfoliative erythroderma, Keratoconjunctivit... ORPHA:33364
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Gastrointestinal hemorrhage, Diarrhea, Poor appetite ORPHA:247598
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Seborrheic dermatitis, Gastrostomy tube feeding in infancy, Superficial dermal perivascular infla... ORPHA:83617
Mowat-Wilson Syndrome
Dysphagia, Constipation, Recurrent otitis media, Aganglionic megacolon, Decreased circulating ant... ORPHA:2152
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99413
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Dysphagia, Chronic diarrhea, Gastrostomy tube feeding in infancy, Gastr... ORPHA:500150
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia ORPHA:93357
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dysphagia, Constipation, Recurrent otitis media, Aganglionic megacolon, Decreased circulating ant... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dysphagia, Recurrent otitis media, Constipation, Aganglionic megacolon, Decreased circulating ant... 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.

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MGI Allele Allele Type Produced
Gcnt3em1(IMPC)Marc Exdel Mice
Gcnt3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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