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Gene: Agr2 MGI:1344405

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
anterior gradient 2
Synonyms:
mAG-2,  XAG-2,  Gob-4,  HAG-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Agr2 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.

The table below shows human diseases associated to Agr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Leukocytosis, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure ... OMIM:620233

The table below shows human diseases predicted to be associated to Agr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,... OMIM:615863
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... OMIM:246700
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Feeding dif... OMIM:616050
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Gastric Cancer
Stomach cancer OMIM:613659
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina... ORPHA:398063
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Iron deficiency anemia, Abnormal... OMIM:226300
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia, Malabsorption ORPHA:1954
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Colitis OMIM:619164
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... OMIM:617006
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... OMIM:243150
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Folliculitis, Inflamm... OMIM:300635
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... OMIM:617638
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalbuminemia, Increased serum bil... OMIM:619868
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Gastroesophageal reflux, Vomitin... ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Pro... ORPHA:67
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Con... ORPHA:897
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Thrombocytopenia, Elevated circulating creatinine concentration, Abdomi... OMIM:608104
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia, Dec... ORPHA:79319
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Nephrotic Syndrome, Type 1
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Abdominal distention, Gastroesophage... OMIM:256300
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, Hypocalcemia, A... ORPHA:100025
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Tracheoesophageal fistula, Abnor... ORPHA:2591
Alg6-Cdg
Decreased LDL cholesterol concentration, Feeding difficulties, Macroglossia, Protein-losing enter... ORPHA:79320
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... OMIM:604416
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Protein-losing enteropathy, Vomiting, Hypoalbuminemia... OMIM:602579
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia OMIM:618969
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abdominal pain ORPHA:234
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Igg4-Related Aortitis
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Hy... ORPHA:449400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Colitis, Recurrent sinusitis OMIM:613101
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu... ORPHA:64743
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrh... ORPHA:90362
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abd... ORPHA:83469
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Gastroesophageal reflux, Hypoalbuminemia, Decreased serum zinc, Abnormal eso... ORPHA:89842
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Jejunal Atresia
Jejunal atresia OMIM:243600
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High, narrow palate, Re... ORPHA:79076
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I... OMIM:304790
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Elevated ... ORPHA:160
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Neoplasm of... ORPHA:97283
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... ORPHA:97278
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Constipat... ORPHA:97280
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia OMIM:606764
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Vomiting, ... ORPHA:37042
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... ORPHA:343
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Hypomagnesemia, Diarrhea, Abdominal pain, Xerostomia, Hamartom... OMIM:175500
Grfoma
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... ORPHA:97261
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Hypoalbuminemia,... OMIM:209950
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Flexion contracture, Absence of... OMIM:601675
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... OMIM:600802
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chorioretinal scar OMIM:277175
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarrhea, Lymphocyt... ORPHA:436159
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Galloway-Mowat Syndrome 6
Hypoalbuminemia, High palate, Decreased response to growth hormone stimulation test, Decreased bo... OMIM:618347
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Esophageal varix, Hepatosplenomegaly, Hypoalbuminemia, Decreased liver funct... ORPHA:367
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive, Projectile vomiting OMIM:179010
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Sanjad-Sakati Syndrome
Hypoparathyroidism, Intestinal obstruction, Abnormal dental enamel morphology, Cryptorchidism, Hy... ORPHA:2323
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileus, Constipation ORPHA:52503
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Eosinophilia, Malabsorption, Abdominal pain, Weight ... ORPHA:183
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Pyloric ... OMIM:613327
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-... ORPHA:85443
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Failure to thrive, ... ORPHA:33355
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il... ORPHA:810
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Sp... OMIM:614700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Elevated circulating C-reactive protein concentration, Abdomin... ORPHA:32960
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Hypoalbuminemia, Hypernatremia, Failur... OMIM:615508
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Colitis... ORPHA:540
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... ORPHA:507
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Diarrhea, Hy... ORPHA:247585
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... OMIM:618999
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Feeding difficu... OMIM:212065
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Cervical lym... ORPHA:2686
Porphyria Variegata
Hyponatremia, Scarring, Abdominal pain, Abnormal circulating porphyrin concentration, Ileus, Cons... ORPHA:79473
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Obesity, Primary amenorrhea OMIM:600955
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... ORPHA:69126
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Failure to thrive, Dysphagia OMIM:613559
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... OMIM:618183
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Lymphocytic infiltra... OMIM:616100
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Sple... ORPHA:342
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Splenomegaly, Diarrhea, Abdominal pain, ... ORPHA:2930
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenomegaly, Hyp... OMIM:619013
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Wolman Disease
Nausea and vomiting, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal distention, Malnut... ORPHA:75233
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Feeding difficulties OMIM:614652
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Enamel hypoplasia, Failure to thrive, Atrophic scars OMIM:226700
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ... ORPHA:98813
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorptio... OMIM:601847
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Chronic diarrhea, Decre... ORPHA:14
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Elevated circulating creatine conc... OMIM:300352
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Hepatosple... OMIM:219700
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat ... ORPHA:71
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Isolated Agammaglobulinemia
Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Diarrhea, Cellulitis, Abnormal lymph... ORPHA:229717
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Hypergonadotropic hypogonadism, Hypogonadotropic hypog... ORPHA:298
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatic failure, Acholic stools, Steatorrh... OMIM:607765
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure, Hyperammonemia ORPHA:664
Dubowitz Syndrome
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... ORPHA:235
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Acute hepatic failure, Decreased circulating ceruloplasmin ... OMIM:277900
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Alg12-Cdg
Hyponatremia, Intestinal malrotation, Cryptorchidism, Feeding difficulties, Abnormal adipose tiss... ORPHA:79324
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Pancytopenia, Small for gestational age, Intestinal malrotation, Esophageal vari... OMIM:613658
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Congenital contracture, Ileus, High palate OMIM:620156
Trichohepatoenteric Syndrome 1
Villous atrophy, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hepatic... OMIM:222470
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangiectasia, Erysipelas OMIM:235510
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate OMIM:616730
Galloway-Mowat Syndrome 3
Hiatus hernia, High palate, Hypoalbuminemia, Camptodactyly, Failure to thrive OMIM:617729
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Primary Biliary Cholangitis
Celiac disease, Conjugated hyperbilirubinemia, Abdominal distention, Hepatic failure, Gastrointes... ORPHA:186
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption, Failure... OMIM:211600
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia ORPHA:254930
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Elevated circulating alpha-... OMIM:276700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Lymphade... OMIM:617718
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis, Feeding difficulties, Chronic constipation, Joint contracture OMIM:300406
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chronic diarrhea, ... OMIM:619858
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypogonadism, Constipation, Arthrogry... ORPHA:163746
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb... ORPHA:1667
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Lipoatrophy, Congenital pyloric atresia, Shagreen patch ORPHA:2617
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Elevated circulating C-... ORPHA:900
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties OMIM:618154
Trigonocephaly 1
Omphalocele, High, narrow palate, Meckel diverticulum OMIM:190440
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Multiple lipomas ORPHA:210548
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Galloway-Mowat Syndrome 1
Small for gestational age, Hiatus hernia, Feeding difficulties, High palate, Hypoalbuminemia, Cam... OMIM:251300
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly OMIM:614262
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... OMIM:613177
Cystic Fibrosis
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... ORPHA:586
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Flexion contracture, Macroglossia, Leukopenia, Hypoalbuminemia, N... OMIM:617303
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, T lymphocytopenia, Vomiting, Tub... OMIM:619510
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Atroph... OMIM:226730
Bronchogenic Cyst
Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, Fat m... OMIM:214950
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... ORPHA:171
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Wolfram Syndrome 2
Gastric ulcer, Oligomenorrhea, Primary amenorrhea OMIM:604928
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficultie... OMIM:616395
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... ORPHA:98850
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... ORPHA:292
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,... OMIM:618963
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ... ORPHA:2298
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Feeding difficulties, Atrophic scars, Smooth tongue, Hypoalbuminemia, Enamel hypoplasia... ORPHA:79396
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Conjugated hyperbilirubinemia, Abdominal distention, Hyperkalemia, Hyp... OMIM:618528
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia OMIM:254900
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Lymphopenia OMIM:617575
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux, Hernia ORPHA:98892
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Colonic Atresia
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia ORPHA:1198
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexion contracture... OMIM:618440
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Anemia OMIM:208060
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... ORPHA:79276
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infancy, Splenomega... OMIM:251880
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
X-Linked Agammaglobulinemia
Malabsorption, Thrombocytopenia, Chronic diarrhea, Neutropenia, Weight loss, Glossoptosis, Hypoca... ORPHA:47
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Hepatic failure, Abnormal serum bile... ORPHA:79303
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow... OMIM:278000
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalb... OMIM:610965
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Bacterial Toxic-Shock Syndrome
Fasciitis, Elevated circulating creatine kinase concentration, Abdominal pain, Diarrhea, Peritoni... ORPHA:36234
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Hypog... ORPHA:3463
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Small for gestational a... OMIM:557000
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Hypoalbum... OMIM:613070
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Malnutrition, Corn... OMIM:226600
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Failure to thrive, Diarrhea, Flexion contracture, High palate, Vomiting, Arthrog... OMIM:601110
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Congenital Disorder Of Glycosylation, Type Iil
Splenomegaly, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Conjunctivitis, Rectal absces... OMIM:601495
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Hematoche... OMIM:615895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoi... ORPHA:391487
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatosplenomegaly, Weight loss, Feeding difficulties, Hypoalbuminemia, Failure... OMIM:619487
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abdominal pain, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnorma... ORPHA:567548
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Leuko... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Fat malabsorption, Hepatic failure ORPHA:79302
Combined Oxidative Phosphorylation Deficiency 37
Feeding difficulties, Bile duct proliferation, Hypoalbuminemia, Decreased liver function, Hyperal... OMIM:618329
Fanconi Anemia, Complementation Group O
Rectal atresia, Anal atresia OMIM:613390
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79406
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Knee flexion contracture,... OMIM:619461
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Long-segment a... OMIM:609136
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Macroglossia, Leukopenia, Hypoalbumine... ORPHA:505248
Acute Bilirubin Encephalopathy
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... OMIM:614162
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Pylo... OMIM:270400
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Generalized lymphadenopathy, Cholangitis, Eczema, Abdominal... ORPHA:3260
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Splenomegaly, Enterocolitis, Functi... ORPHA:90051
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79411
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Abdominal distention,... OMIM:235255
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Duodenal stenosis ORPHA:2547
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia, Abdominal pain ORPHA:656
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Abnormal large intestine morphology, Malrotati... ORPHA:93932
Poliomyelitis
Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea ORPHA:2912
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... OMIM:618213
Osteogenesis Imperfecta
Intestinal obstruction, Inguinal hernia, Small for gestational age, Abnormal dental enamel morpho... ORPHA:666
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Chronic diarr... OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... OMIM:277380
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Icf Syndrome
Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia, Lym... ORPHA:2268
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... OMIM:606367
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia ORPHA:139466
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... ORPHA:99867
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233710
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... ORPHA:2470
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... ORPHA:544482
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... ORPHA:2847
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Feeding difficulties in infancy, Leukopenia, Thrombocytopenia, Megarectum OMIM:301056
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Protuberant abdomen... OMIM:232220
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Splenomegaly, Bloody diarrhea, Colitis, Hypoplasia of... ORPHA:84064
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Myasthenic Syndrome, Congenital, 21, Presynaptic
Feeding difficulties, Meconium ileus, Knee flexion contracture OMIM:617239
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... OMIM:619055
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Abdominal distention,... ORPHA:1655
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia OMIM:614441
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the ... ORPHA:2538
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Netherton Syndrome
Villous atrophy, Hypereosinophilia, Failure to thrive, Recurrent infection of the gastrointestina... OMIM:256500
Intussusception
Intussusception OMIM:147710
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233690
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... OMIM:116920
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, High palate OMIM:617157
Johanson-Blizzard Syndrome
Malabsorption, Anteriorly placed anus, Anemia, Failure to thrive, Hypoproteinemia, Anal atresia, ... ORPHA:2315
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Mal... OMIM:240300
Leprechaunism
Abdominal distention, Rectal prolapse, Megarectum ORPHA:508
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Splenomegaly, Conjugated hyperbilirubinemia, Acho... ORPHA:30391
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... ORPHA:436252
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hype... OMIM:620358
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Azoo... OMIM:615234
Multiple Osteochondromas
Intestinal obstruction, Dysphagia ORPHA:321
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Rectal prolapse, Osteoarthritis, Chronic constipation, Gastroesophageal reflux, Vo... ORPHA:287
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Intestinal malrotation, Polysplenia, Reduced progressive sperm motility OMIM:619608
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Abdominal distention, Hepatic failure, Hypoalbum... OMIM:617156
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... OMIM:616457
Acute Transverse Myelitis
Gastroparesis, Decreased circulating copper concentration, Paralytic ileus, Constipation, Abnorma... ORPHA:139417
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Whim Syndrome
Abnormal small intestine morphology, Lymphopenia, Abnormal neutrophil morphology, Neutropenia, Ce... ORPHA:51636
Familial Adenomatous Polyposis 4
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Williams Syndrome
Colonic diverticula, Nausea and vomiting, Peptic ulcer, Malabsorption, Abdominal pain, Abnormal g... ORPHA:904
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... ORPHA:79259
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... OMIM:131100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Episodic abdominal p... OMIM:249100
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hepatospl... ORPHA:275761
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Abdominal pain, Biliary hyperplasia, Splenomegaly, Co... ORPHA:567983
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate OMIM:303600
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... ORPHA:210122
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P... OMIM:260400
Mednik Syndrome
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... OMIM:609313
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... ORPHA:144
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the rectum, Acute lymphoblastic leukemia, Colorectal polyposi... ORPHA:524
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Aganglionic megacolon, Malabsorption, Lymphopenia, Anemia ORPHA:935
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Muir-Torre Syndrome
Colonic diverticula, Ovarian neoplasm, Colon cancer, Adenoma sebaceum, Benign gastrointestinal tr... OMIM:158320
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Iridocyclitis, Mediastinal lymphadenopathy, Splenomegaly, ... OMIM:181000
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Acute hepatic failure, Nausea and vomiting, Abnormality... ORPHA:36426
Williams-Beuren Syndrome
Colonic diverticula, Feeding difficulties in infancy, Celiac disease, Rectal prolapse, Chronic co... OMIM:194050
Duodenal Atresia
Duodenal atresia OMIM:223400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Abdominal pain ORPHA:567546
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Scarring alopecia of scalp, Abdominal distent... ORPHA:158684
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... ORPHA:440437
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vomiting, Lymphoc... OMIM:619991
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:306400
Fumarase Deficiency
Mitochondrial swelling, Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Gastritis, Splenomegaly, Xerostomia, Leukopenia, G... ORPHA:809
Dextrocardia
Pancreatic hypoplasia, Abnormality of the spleen, Meckel diverticulum, Intestinal malrotation ORPHA:1666
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... ORPHA:537
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intestine, Polysplenia OMIM:200995
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Meck... OMIM:311900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation ORPHA:79410
Hardikar Syndrome
Vomiting, Cleft soft palate, Abdominal pain, Hepatosplenomegaly, Decreased liver function, Hyperb... OMIM:301068
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... ORPHA:2072
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Abno... ORPHA:2886
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Splenomegaly, Incr... OMIM:619534
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Pgm3-Cdg
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... ORPHA:443811
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia OMIM:617666
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Enamel hypoplasia, Intesti... ORPHA:79403
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Biliary hyperplasia, Pancreatic cy... ORPHA:731
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Cryptorchidism, Malrotation of small bowel, Cleft palate, Atrophic scars, High p... ORPHA:2953
Fryns Syndrome
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for ... OMIM:229850
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Scarring, Hiatus hernia, Cryptorchidism, Cleft palate, Atrophic scars, Di... OMIM:601776
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Aganglionic megacolon, Aplasia/H... ORPHA:84
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... ORPHA:447
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Small for gestational age, Nasogastric tube feeding in... ORPHA:1708
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Recur... OMIM:309800
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hepatic failure, Esophagitis, Feeding difficulties ORPHA:541423
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Meier-Gorlin Syndrome 7
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... OMIM:617063
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cle... OMIM:265380
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Cleft palate OMIM:612562
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Testicular neoplasm, Pituitary corticotropic cell adenoma, Pit... ORPHA:276152
Microphthalmia With Linear Skin Defects Syndrome
Feeding difficulties, Abnormal rectum morphology, Abnormality of the anus ORPHA:2556
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Inguinal hernia, Hernia, Small bowel diverticula ORPHA:90349
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Vomiting, Hypocalcemia, Nausea ORPHA:31826
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipati... ORPHA:264450
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... ORPHA:99226
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Vomiting, Esophagitis, Feeding difficulties ORPHA:79351
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf... ORPHA:96182
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Coffin-Siris Syndrome 1
Inguinal hernia, Duodenal ulcer, Intestinal malrotation, Congenital diaphragmatic hernia, Feeding... OMIM:135900
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Malnutrition, Hypoalbuminemia ORPHA:75565
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Gastrointestinal inflam... ORPHA:79404
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hematochezia, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Orofaciodigital Syndrome Type 4
High, narrow palate, Submucous cleft hard palate, Rectal atresia, Cleft palate, Perineal fistula,... ORPHA:2753
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepatosplenomegaly,... OMIM:274000
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Blepharitis... ORPHA:280633
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Sacral Defect With Anterior Meningocele
Constipation, Rectal abscess OMIM:600145
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... OMIM:190685
Autosomal Dominant Cutis Laxa
Inguinal hernia, Feeding difficulties, Vomiting, Hernia, Small bowel diverticula ORPHA:90348
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Knee flexion contract... OMIM:606170
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft pa... OMIM:194190
Penile Agenesis
Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Rectal fistula ORPHA:49
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Inguinal hernia, Intestinal malrotation, Congenital diaphragmat... OMIM:312870
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... ORPHA:1359
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Leukocytosis, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure ... OMIM:620233

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 Agr2

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 Agr2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Agr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Agr2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Agr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Agr2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Agr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Agr2tm39920(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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