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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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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
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... OMIM:613502
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Malabsorption OMIM:137100
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract OMIM:609529
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Decreased cir... OMIM:618969
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Recurrent otitis media, Complete or near-complete absence of specific an... OMIM:615401
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell function, Recurre... OMIM:240500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Mucoid diarrhea, Increased ... OMIM:615767
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Decreased c... OMIM:616100
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Vomiting, Eczematoid dermatitis, Decreased circulating IgA level... OMIM:619510
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi... OMIM:607594
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Decreased ... OMIM:614069
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis OMIM:300988
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... OMIM:619924
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent skin infections, Erythema... OMIM:300635
Immunodeficiency 112
Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections,... OMIM:617744
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Colitis, Esophageal stenosis OMIM:615190
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Chronic diarrhea, Agammaglobulinemia, ... OMIM:615592
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Defective T cell proliferation, Decreased c... OMIM:617514
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Xq28 (MECP2) duplication
Gastroesophageal reflux, Decreased circulating IgA level, Feeding difficulties in infancy, Consti... DECIPHER:45
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess, Chron... OMIM:619752
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Diarrhea, Impaired memory B cell generation, Hepatitis, Abnormal... OMIM:308230
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
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, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Decreased circulating antibody level, Abnormal natural killer cell physiology, Recurrent... OMIM:613101
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Protracted diarrhe... OMIM:209920
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea OMIM:614102
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level OMIM:619773
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Immunodeficiency 22
Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Decreased circulating IgA level, ... OMIM:615758
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Decreas... OMIM:619802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Diarrhea, Decreased circulating IgA level, Malabsorption, Protruding tongue, Sinusitis... OMIM:242860
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Erythema nodosum, Panhypogammaglobulinemia OMIM:615214
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent otitis media, Diarrhea, Absent isohemagglutinin level OMIM:613501
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Intestinal lym... ORPHA:90362
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Immunodeficiency 9
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... OMIM:612782
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Abdominal pain, Abnormal small intestine morphology, Malabsorption ORPHA:100025
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Decrease... OMIM:616576
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:331206
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis OMIM:193670
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... OMIM:606367
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Chronic sinusitis, Abnor... ORPHA:397596
Immunodeficiency 46
Conjunctivitis, Decreased circulating antibody level, Chronic diarrhea, Chronic oral candidiasis OMIM:616740
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Malabsorption, Intestinal lymphangiectasia OMIM:152800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjun... OMIM:601457
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Chronic diarrhea, Increased cir... OMIM:616005
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... OMIM:616050
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Decreased circulating... OMIM:620040
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Abnormal immunoglobulin level, Feeding difficulties in infancy, Exocrine pancreatic ... OMIM:618752
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Decreased specific pneumococcal antibody level, Increased circulating IgM level, ... OMIM:615513
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level, Bronchiectasis OMIM:615872
Immunodeficiency 48
Pneumonia, Chronic diarrhea, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Decreased circulating IgA level, Decreased c... OMIM:275350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... OMIM:619705
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... OMIM:618982
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Superficial ... OMIM:620632
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... OMIM:618534
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Otitis media, Sinusitis OMIM:312863
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... OMIM:301081
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous st... OMIM:212750
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Chronic mucocutan... OMIM:102700
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Pustular rash, Recurrent otitis m... OMIM:619381
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Decreased circulating IgA level, Intestinal polyp, Protuberant abdomen ORPHA:457485
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... ORPHA:2137
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Reticular Dysgenesis
Diarrhea, Malabsorption, Skin rash, Decreased circulating antibody level, Chronic otitis media ORPHA:33355
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level, Feeding difficulties in in... OMIM:606056
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eo... OMIM:618213
Angiostrongyliasis
Vomiting, Increased circulating specific IgE antibody, Nausea, Abdominal pain, Increased circulat... ORPHA:74
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Gastrostomy tube feeding in ... OMIM:613385
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Gastroesophageal reflux, Decreased cir... ORPHA:221139
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Gastroesophageal reflux, Uveitis, Neoplasm... ORPHA:125
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Mogs-Cdg
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Chron... ORPHA:79330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent otitis media, Decreased circulating antibody level OMIM:616910
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level, Ileus, Constipation, Dysphagia, Feeding dif... OMIM:613327
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Feeding difficulties OMIM:616638
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level, Eczematoid dermatitis OMIM:618116
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Decreased ... OMIM:607143
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Agammaglobulinemia,... ORPHA:33110
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... OMIM:600802
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Immunodeficiency 12
Bronchiectasis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous st... OMIM:615468
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased liver function OMIM:301045
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Interstitial pneumonitis, Abnormal inte... OMIM:615952
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Diarrhea, Vomiting, Decreased circulating IgA level, Villous atr... OMIM:212065
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent sinusiti... OMIM:300853
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections, Clef... OMIM:620210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Neutrophilic infiltration of the skin, Skin rash, Increased circu... OMIM:618048
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Septic arthritis, Decreased circulating ant... OMIM:617780
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Diarr... ORPHA:572
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Malabsorption ORPHA:1116
Immunodeficiency 17
Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent otitis ... OMIM:615607
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Hereditary Folate Malabsorption
Cheilitis, Diarrhea, Gastroesophageal reflux, Nausea and vomiting, Anorexia, Glossitis, Decreased... ORPHA:90045
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612301
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Wolfram Syndrome 2
Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Malar rash, Increased c... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatic failure, Decreased circulating antibody level, Fulminant... OMIM:308240
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Abnormal lymphocyte physiology, Myositis, Glomeruloneph... ORPHA:99867
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Protruding tongue, Constipation... OMIM:617062
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Exocrine pancreatic ins... OMIM:300972
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Oral leukoplakia, Pancolitis, E... OMIM:620133
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Feeding difficulties, Panhypogammaglobulinemia ORPHA:251009
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Immunodeficiency 27A
Pneumonia, Diarrhea, Increased inflammatory response, Salmonella osteomyelitis, Anorexia, Increas... OMIM:209950
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Panniculitis, Skin rash, Increased circulating IgA level, Abdominal pain, Chronic diarr... OMIM:617099
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Cernunnos-Xlf Deficiency
Decreased circulating antibody level ORPHA:169079
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Diarrhea, Lymphocytic interstitial pneum... OMIM:618495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Impaired oxidative burst... OMIM:618935
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level, Oral leukoplakia OMIM:619767
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Velopharyngeal insufficiency, Eczematoi... OMIM:223370
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Conjunctivitis, P... OMIM:620376
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:208900
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Malabsorption, Chronic diarrhea, Skin rash, Agamma... ORPHA:47
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circul... OMIM:617388
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis OMIM:301108
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Decreased circulati... OMIM:210900
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Peritonitis, Pancreatitis, Abdominal pain, Co... ORPHA:90038
Boutonneuse Fever
Diarrhea, Skin rash, Maculopapular exanthema, Nausea, Abdominal pain, Increased circulating IgG l... ORPHA:83313
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased specific anti-polysaccharide antibody le... OMIM:301000
Pgm3-Cdg
Allergic rhinitis, Bone marrow hypocellularity, Recurrent pneumonia, Gastroesophageal reflux, Bro... ORPHA:443811
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level, Chronic diarrhea, Atopic dermat... OMIM:620603
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Decreased circulating IgA level, Abnormal gastroint... ORPHA:369837
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Meckel diverticulum, Feeding difficulties, Pyloric stenosis OMIM:616395
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Bloo... ORPHA:810
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Viral hepatitis,... ORPHA:91139
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circ... OMIM:620565
Hyper-Igd Syndrome
Diarrhea, Vomiting, Lymphadenitis, Skin rash, Increased circulating IgA level, Arthritis, Chronic... OMIM:260920
Good Syndrome
Diarrhea, Decreased circulating antibody level, Sinusitis, Recurrent skin infections, Dysphagia, ... ORPHA:169105
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encep... OMIM:307200
Monosomy 18Q
Decreased circulating IgA level, High palate ORPHA:1600
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Oral leukoplakia OMIM:618165
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Cutaneous abscess, Parapr... ORPHA:331235
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent sinusitis, Increased circulating antibody level, Decreased circ... OMIM:615559
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Decreased circulating antibody level, Recurrent pneumonia OMIM:619750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgG level, Exocrine pancreatic insufficiency, Decreased circulating IgA lev... OMIM:620005
Roifman Syndrome
Recurrent otitis media, Recurrent pneumonia, Decreased circulating antibody level, Eczematoid der... ORPHA:353298
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Increased circulating IgA level, Increas... OMIM:615934
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Malabsorption, Skin rash, Erythroderma, D... ORPHA:634
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Griscelli Syndrome
Bone marrow hypocellularity, Decreased circulating antibody level, Hepatitis, Pyloric stenosis ORPHA:381
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Perianal abscess, Enterocolitis, Sinusitis, Abdominal p... ORPHA:2686
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Lymphadenitis, Decreased lymphocyte prolife... OMIM:618986
Icf Syndrome
Malabsorption, Macroglossia, Decreased circulating antibody level, Protruding tongue ORPHA:2268
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Intestinal obstruction, Constrictive pericarditis... ORPHA:67
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, ... ORPHA:544482
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Stomatitis OMIM:613011
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Vomiting, Acute hepatic failure, Feeding difficulties in infancy... OMIM:613070
Alg12-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Abnormal circulating IgM level, Intestinal malrotat... ORPHA:79324
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Ataxia-Telangiectasia
Decreased circulating antibody level ORPHA:100
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Villous atrophy, Hepatoblastoma, Gastritis, Depen... ORPHA:84064
Primary Biliary Cholangitis
Hepatic failure, Hepatitis, Increased circulating IgA level, Gastrointestinal inflammation, Abdom... ORPHA:186
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Dysphagia, Aspiration pneumonia ORPHA:52368
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Feeding difficulties in infanc... ORPHA:1493
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Panhypogammaglobulinemia, Increased circulating IgE level, Otitis media, Chronic diarrhea OMIM:602450
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
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Otitis media, Gastrointestinal stroma tumor, Anal atresia, Decreased c... ORPHA:1572
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal small intestine morphology, Ot... ORPHA:51636
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... OMIM:619472
Macrocephaly/Autism Syndrome
Recurrent otitis media, High palate, Decreased circulating antibody level OMIM:605309
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Iridocyclitis, Keratoconjunctivi... ORPHA:227990
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Recurrent otitis media, Recurrent a... OMIM:301078
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Aganglionic megacolon, Malabsorption ORPHA:935
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Decreased circulating antibody leve... OMIM:618183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Igg4-Related Submandibular Gland Disease
Xerostomia, Increased circulating IgE level, Reduced circulating complement concentration, Increa... ORPHA:449432
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Chronic hepatic failure, Polyclonal el... ORPHA:171
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, High palate, Decreased circulating antibody level, Hamartom... OMIM:158350
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Hashimoto thyroiditis, Iridocycl... ORPHA:227982
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Decreased circulating antibody level, Erythroderma OMIM:617425
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... ORPHA:309031
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Chronic mucocutaneous candidiasis, Panh... ORPHA:79124
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... ORPHA:79329
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ... ORPHA:79078
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczematoid dermatitis, Constipation, Decreased circulating total IgM, High pal... OMIM:618162
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... OMIM:601675
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... OMIM:617718
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Lymphadenitis, Chapped lip, Skin rash, I... ORPHA:707
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... OMIM:619573
Distal Deletion 19P
Decreased circulating antibody level, Cleft palate ORPHA:96129
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Abdominal distention, Eczematoid dermatitis, Mala... ORPHA:3260
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Skin rash, Increas... ORPHA:2298
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... OMIM:615895
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ... OMIM:251260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Feeding difficulties,... OMIM:615688
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Rift Valley Fever
Melena, Hepatitis, Skin rash, Infectious encephalitis, Hematemesis, Anorexia, Increased circulati... ORPHA:319251
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Increased circulating interleukin 8 concentration, Conjunctivitis, Increased circul... OMIM:256040
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... ORPHA:3132
Schimke Immunoosseous Dysplasia
Abnormal immunoglobulin level, Decreased circulating antibody level, Protuberant abdomen OMIM:242900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... ORPHA:79259
Primary Sjögren Syndrome
Arteritis, Xerostomia, Parotitis, Chronic active hepatitis, Reduced circulating complement concen... ORPHA:289390
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Anorexia, Abdominal pai... ORPHA:1304
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent otitis media, Psoriasiform dermatitis, Recurrent sinusitis, Decrea... ORPHA:293978
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Decreased circulating antibody level OMIM:248500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Decreased circulating antibody level OMIM:616084
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Vomiting, Hepatic failure, Reduced circulating complem... ORPHA:470
Trichohepatoenteric Syndrome 1
Bifid uvula, Intractable diarrhea, Hepatic failure, Villous atrophy, Decreased circulating antibo... OMIM:222470
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Recurrent skin infections, Gastrostomy tube feeding in infancy, Decreased circulat... ORPHA:79396
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Median clef... OMIM:242840
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... OMIM:232220
Fumarase Deficiency
Hepatic failure, High palate, Necrotizing enterocolitis OMIM:606812
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Recurrent otitis media, Protruding tongue, Recurrent gastroenteri... ORPHA:99843
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Hennekam Syndrome
Malabsorption, Decreased circulating antibody level, Erysipelas, Pyloric stenosis ORPHA:2136
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Decreased circulating antibody level, Malabsorption ORPHA:175
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Recurrent gastroenteritis, Conjunct... ORPHA:505248
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Gastrointestinal hemorrhage, Decreased circulating antibody level, Poor appetite ORPHA:247598
Trichothiodystrophy
High, narrow palate, Eczematoid dermatitis, Panhypogammaglobulinemia, Congenital exfoliative eryt... ORPHA:33364
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level, Meckel diverticulum, Seborrheic dermatitis, Cleft palate OMIM:274000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Feeding difficulties OMIM:618278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Gastrostomy tube ... ORPHA:83617
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine ORPHA:70591
Bardet-Biedl Syndrome
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... ORPHA:110
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Gastroparesis, Secretory I... ORPHA:500150
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level ORPHA:93357
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Aganglionic megacol... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Aganglionic megacol... 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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