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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Vomiting, Gastroesophageal reflux, Failure to thrive, Leukocytosis, Abdominal distention, Chronic... 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
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal col... OMIM:615863
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Epi... ORPHA:209964
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Hernia, Weight ... ORPHA:26790
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Diarrhea, Malnutrition, Hypoch... OMIM:246700
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leu... ORPHA:2070
Desmoid Disease, Hereditary
Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa... OMIM:616050
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... ORPHA:103910
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstr... OMIM:226300
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Normocytic anemia, Jejunitis, Hypomagnesemia, Microc... ORPHA:398063
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Iron deficiency anemia, Thrombocytopenia, Rectal prolapse, Intussu... OMIM:112200
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... OMIM:174900
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Decreased propo... ORPHA:543
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre... ORPHA:2869
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Immunodeficiency 76
Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Colitis, Chronic diarrhea OMIM:619164
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis, Impaired lymphocyte transformation with phytohemagglu... OMIM:617006
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... ORPHA:44890
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... OMIM:617638
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruc... ORPHA:67
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Col... OMIM:300635
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Weight loss, Oligozoospermia, Dyspepsia, Ab... ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom... ORPHA:897
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased RBC distribution width, Increased mean corpuscular... OMIM:261000
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... ORPHA:873
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Fai... ORPHA:79319
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv... OMIM:608104
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Abdominal distention, Hypoproteinemia, ... OMIM:256300
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Episodic abdominal pain, Hamartomatous p... ORPHA:251992
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased LDL cholesterol concent... ORPHA:79320
Infantile Myofibromatosis
Chondrocalcinosis, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistu... ORPHA:2591
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia, Anemia, Abdominal... ORPHA:100025
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Crohn's disease OMIM:615767
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi... ORPHA:79327
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thri... OMIM:602579
Dubin-Johnson Syndrome
Abdominal pain, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology ORPHA:234
Immunodeficiency 70
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... 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
Hypereosinophilia, Intestinal obstruction, Weight loss, Elevated circulating C-reactive protein c... ORPHA:449400
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, H... ORPHA:90362
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Hyperbilirubinemia, Leukopenia, Sple... ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Anal ... ORPHA:89842
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Colitis OMIM:613101
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Esophageal stenosis OMIM:615190
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Jejunal Atresia
Jejunal atresia OMIM:243600
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Testicular neoplasm, Abdominal distention, Ane... ORPHA:83469
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Chronic diarr... OMIM:304790
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting,... ORPHA:90363
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Splenomegaly, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Abdominal distention, Malnutrition, Villous atro... ORPHA:95427
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Anemia, Abnormality of the gastrointestinal tract, W... ORPHA:160
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Failure to thrive OMIM:620357
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Somatostatinoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97283
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction OMIM:606764
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... ORPHA:97280
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... ORPHA:1201
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly, Lipodystr... OMIM:608776
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Multiple gastric polyps, Iron d... OMIM:175200
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Immunodeficiency 27A
Hypoalbuminemia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss,... OMIM:209950
Alpha-1-Antitrypsin Deficiency
Gastric varix, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellula... OMIM:613490
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Failure to thrive, Lymphopenia, Chronic diarrhea, Intestinal obstruc... OMIM:600802
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Failure to thrive, Decreased liver function, Hepatosplenomegaly... ORPHA:367
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
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Pyloric Stenosis, Infantile Hypertrophic, 1
Failure to thrive, Projectile vomiting, Pyloric stenosis OMIM:179010
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Chorioretinal scar, Malabsorption OMIM:277175
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Malabsorption, Absence of subcutaneous fat, Intestinal obstruction, Flexion contrac... OMIM:601675
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia, Constipation, Abnormal circulating creatine concentration ORPHA:52503
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Splenomegaly, Elevated circulating creatine kinase concentration, Lipod... OMIM:613327
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abn... ORPHA:85443
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Sanjad-Sakati Syndrome
Hyperphosphatemia, Abnormal dental enamel morphology, Cryptorchidism, Hypocalcemia, Intestinal ob... ORPHA:2323
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Hepa... ORPHA:911
Waardenburg Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia... ORPHA:3440
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Shigellosis
Microangiopathic hemolytic anemia, Anorexia, Abdominal pain, Abnormal blood ion concentration, In... ORPHA:810
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Chronic diarrhea, Microcytic anemia OMIM:618805
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Membranous nephropathy, Eosinophilic... OMIM:618999
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Intestinal obstruction, Eosinophilia... ORPHA:183
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... ORPHA:507
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Diarrhea, Vomiting, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, Or... ORPHA:32960
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Decreased liver function, Increased circulating ferritin conce... ORPHA:540
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Oral leukoplakia, Pancolitis, E... OMIM:620133
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatos... ORPHA:247598
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia, Villous atrophy, Abn... OMIM:212065
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Diarrhea, Vomiting, Decreased HDL cholesterol concent... ORPHA:247585
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Sple... OMIM:618935
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Meconium ileus, Exocrine pancreatic insufficiency, Hepatosplenomeg... OMIM:219700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... OMIM:617021
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume OMIM:301108
Porphyria Variegata
Ileus, Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Constipation, Abdomi... ORPHA:79473
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Weight loss, Anorexia, Elevated circulating C-reactive protein con... OMIM:619381
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Dysphagia, Failure to thrive OMIM:613559
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Cyclic Neutropenia
Periodontitis, Cervical lymphadenopathy, Otitis media, Perianal abscess, Enterocolitis, Peritonit... ORPHA:2686
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Lymphadenopathy, Arthritis, ... ORPHA:69126
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Feeding difficulties in ... OMIM:619013
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hy... OMIM:618183
Congenital Lethal Erythroderma
Hypoalbuminemia, Malabsorption, Failure to thrive ORPHA:1954
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Constipation, Reduced erythrocyte porphobili... OMIM:176000
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Feeding difficulties OMIM:614652
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Anemia, Cachexia, Abdominal dis... ORPHA:75233
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Enamel hypoplasia, Failure to thrive, Pyloric stenosis OMIM:226700
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Splenomegaly, ... ORPHA:2137
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Cerebral Creatine Deficiency Syndrome 1
Vomiting, Failure to thrive, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Eleva... OMIM:300352
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Hypocholesterolemia, Abnormal ... ORPHA:14
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hy... ORPHA:98813
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:620532
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Abdominal distention, Hypogonadotropic hypogonadism,... ORPHA:298
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Malabsorption, Eosinophilic infiltration of the esophagus, Hy... OMIM:615508
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec... ORPHA:100079
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... OMIM:620565
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Familial Mediterranean Fever
Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L... ORPHA:342
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Pyloric stenosis ORPHA:664
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Gastroesophageal reflux, Vomiting, Failure to thrive, Decreased liver function, ... OMIM:613658
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Failure to thrive, Bloody diarrhea OMIM:614328
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Bifid uvula, Increased circulating iron concentration, Hypermethioninemia, Small... OMIM:222470
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, High palate, Ileus, Congenital contracture OMIM:620156
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Geographic tongu... ORPHA:247353
Alg12-Cdg
Hypoalbuminemia, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Hypocholeste... ORPHA:79324
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Rectal prolapse OMIM:235510
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Dubowitz Syndrome
Anal stenosis, Eczematoid dermatitis, Malabsorption, Chronic diarrhea, Submucous cleft hard palat... ORPHA:235
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Hiatus hernia, Camptodactyly, High palate OMIM:617729
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... ORPHA:447877
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic failure, Abnormal circulating lipid concentration, Splenomegaly, Hyperch... ORPHA:186
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 11
Hypoalbuminemia, High palate, Hypercholesterolemia, Cleft palate OMIM:616730
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy ORPHA:254930
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increased circul... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption, Hepa... OMIM:601847
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Decreased liver function, Increased circulating ferritin conce... ORPHA:158061
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... ORPHA:480536
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Abdominal pai... ORPHA:163746
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Hypocholesterolemia, Acanthocytosis, Abdominal distention,... ORPHA:71
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Chilblains, Intestinal inflammation, Membranoproliferative glomerulonephritis... OMIM:619858
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Cervical... OMIM:617718
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Wolcott-Rallison Syndrome
Hypoalbuminemia, Exocrine pancreatic insufficiency, Acute hepatic failure, Hyperbilirubinemia, Hy... ORPHA:1667
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Prostatitis, Weight los... ORPHA:900
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr... OMIM:276700
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pyloric stenosis OMIM:614262
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Diarrhea, Failure to thrive, Hypocholesterolemia, Splenomegaly, Conjugated hyper... OMIM:607765
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula ORPHA:3016
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Omphalocele OMIM:190440
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Fg Syndrome 3
Cryptorchidism, Chronic constipation, Joint contracture, Feeding difficulties, Pyloric stenosis OMIM:300406
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy... OMIM:611376
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hepatic failure, Chondrocalcinosis, Vomiting, Acute hepatic failur... OMIM:277900
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Lipoatrophy, Cryptorchidism, Shagreen patch ORPHA:2617
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, High palate, Small ... OMIM:251300
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Bronchogenic Cyst
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Gastroesophageal reflux, Hypoplasia of the thymus, Rectal ... OMIM:613177
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Hepatic failure, Increased mean corpuscular volume, Splenomegaly, Gastric varix, Thrombocytopenia... OMIM:620367
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Failure to t... OMIM:619510
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis, Feeding difficulties OMIM:618154
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia OMIM:200100
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Macroglossia, F... OMIM:617303
Avian Influenza
Hypoalbuminemia, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Elevated circulating creatine kinas... ORPHA:454836
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Hemophagocytosis, Increased circulating ferri... ORPHA:158057
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia OMIM:254900
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis ORPHA:1759
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Lymphopenia, Cryptorchidism, Hypertriglyceridemia OMIM:617575
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Fat mal... OMIM:211600
Cystic Fibrosis
Gastroesophageal reflux, Bronchiectasis, Meconium ileus, Exocrine pancreatic insufficiency, Malab... ORPHA:586
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage m... ORPHA:292
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Abdominal distention ORPHA:1198
Primary Sclerosing Cholangitis
Hypoalbuminemia, Cholelithiasis, Acute hepatic failure, Hepatosplenomegaly, Splenomegaly, Abdomin... ORPHA:171
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Smooth tongue, Failure to thrive, Atrophic scars, Gastrostomy tube feeding in in... ORPHA:79396
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormality of bo... ORPHA:2298
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Increa... OMIM:619377
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr... OMIM:603041
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa... OMIM:618963
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Periventricular Nodular Heterotopia
Hernia, Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Arteriosclerosis, Severe Juvenile
Anemia, Gastric ulcer OMIM:208060
Spinal Cord Injury
Paralytic ileus, Hypercalcemia ORPHA:90058
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Feedi... OMIM:616395
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Fasciitis, Acute hepatitis, ... ORPHA:39812
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Hyponatremia, Constipation, Abdomin... ORPHA:79276
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Hypocalcemia, Splenomegaly, Cryptorchidism... OMIM:618440
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam... OMIM:610965
Cog8-Cdg
Protein-losing enteropathy, Failure to thrive ORPHA:95428
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... ORPHA:309031
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Fulminant hepatic failure, Abdominal distention, Hype... OMIM:618528
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased HDL cholesterol concentration, ... OMIM:278000
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Malnutrition, Esophageal stricture, Atrophic scars, Corneal scarring, Abnormal esophagus morpholo... OMIM:226600
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Diarrhea, Arthrogryposis multiplex congenita, Failure... OMIM:601110
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Diarrhea, Vomiting, Fasciitis, Elevated circulating creatinine conce... ORPHA:36234
Liver Failure, Infantile, Transient
Hypoalbuminemia, Vomiting, Acute hepatic failure, Hyperbilirubinemia, Feeding difficulties in inf... OMIM:613070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hepatic failure, Vomiting, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal... ORPHA:2929
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, B lymphocytopenia, Neutropenia,... OMIM:601495
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Atrophic scars, Congenital pyloric atresia, Esophageal atresia, Enamel hypo... OMIM:226730
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck ORPHA:163961
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Splenomegaly, Esophageal varix OMIM:614576
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture... OMIM:619461
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Splenome... OMIM:615895
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... OMIM:239300
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Anemia, Hemolytic anemia, Fe... OMIM:619487
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Anorexia, Abdominal pain, Elevated ... ORPHA:99826
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Failure to thrive, Splenomegaly, Elevated circulating... ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Failure to thrive, Hyperbilirubinemia, Fat malabsorption, Decrease... OMIM:214950
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic an... OMIM:557000
Wolfram Syndrome
Gastrointestinal hemorrhage, Male hypogonadism, Hypogonadism, Malabsorption, Feeding difficulties... ORPHA:3463
Fanconi Anemia, Complementation Group O
Anal atresia, Rectal atresia OMIM:613390
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, ... OMIM:614162
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Decreased liver function, Hyperalaninemia, Bile duct prolifer... OMIM:618329
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Recurrent gastroenteritis, Hernia, Thrombocytope... ORPHA:505248
Anorectal Anomalies
Anal atresia, Rectovaginal fistula OMIM:107100
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Decreased liver function, Hyperammonemia, Decreased serum zin... OMIM:617093
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Feeding difficulties ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Feeding difficulties ORPHA:529808
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Cryptorchidism, Aganglionic megac... OMIM:609136
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Failure to thrive, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal se... ORPHA:79303
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... OMIM:618213
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Duodenal stenosis ORPHA:2547
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe... ORPHA:96180
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Bifid uvula, Gastroesophageal reflux, Microglossia, Failure to thrive, Vomiting,... OMIM:270400
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Poliomyelitis
Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia ORPHA:2912
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphology, Inguinal hernia, ... ORPHA:666
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Chro... OMIM:617053
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abdominal pain, Peritonitis ORPHA:656
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hypocalcemia, Inguinal ... OMIM:235255
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Umbilical he... ORPHA:93932
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal distention, Eczematoid dermatitis, Vomiting, Cerv... ORPHA:3260
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, H... OMIM:606367
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa... ORPHA:98850
Intussusception
Intussusception OMIM:147710
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A... ORPHA:512
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia ORPHA:139466
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Leukopenia, Feeding difficulties in infancy, Thrombocytopenia OMIM:301056
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe... ORPHA:2847
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... ORPHA:2538
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Hepatosplenomegaly, Hyperbilirubinemia, Fat malabsorption, Bile duct proliferation ORPHA:79302
Myasthenic Syndrome, Congenital, 21, Presynaptic
Feeding difficulties, Meconium ileus, Knee flexion contracture OMIM:617239
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... OMIM:277380
Netherton Syndrome
Failure to thrive, Hypereosinophilia, Recurrent infection of the gastrointestinal tract, Villous ... OMIM:256500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Elevated circulating creatine kinase concentration, Small for... OMIM:619055
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Splenomegaly, Hypoplasia of the thymus, Hepatoblastoma, Ga... ORPHA:84064
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Diarrhea, Recurrent pneumoni... OMIM:301000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Ing... ORPHA:1655
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Protuberant abdomen, Pancr... OMIM:232220
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Duodenal stenosis, Congenital diaphragmatic hernia, Cryptorc... ORPHA:2470
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Ch... OMIM:116920
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Secretory diarrhea OMIM:614441
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Gastroesophageal reflux, Eczematoid dermatitis, High palate, Rectal prolapse, Feeding difficulties OMIM:617157
Leprechaunism
Megarectum, Rectal prolapse, Abdominal distention ORPHA:508
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Cutaneous abscess, Otitis... ORPHA:331235
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... ORPHA:436252
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Multiple Osteochondromas
Dysphagia, Intestinal obstruction ORPHA:321
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Reduced progressive sperm motility, Duodenal atresia, Polysplenia OMIM:619608
Classical Ehlers-Danlos Syndrome
Vomiting, Gastroesophageal reflux, Chronic constipation, Hiatus hernia, Osteoarthritis, Nausea, R... ORPHA:287
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasm... OMIM:620358
Acute Transverse Myelitis
Priapism, Gastroparesis, Paralytic ileus, Constipation, Abnormal libido, Decreased circulating co... ORPHA:139417
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Secretory diarrhea, Lymphopenia, ... OMIM:619573
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Failure to thrive, Hyperbilirubinemia, Hype... OMIM:617156
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Female hypogonadism, Male hypogonadism, Cholelithiasis, Diarrhea, Malabsorpti... OMIM:240300
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Gastrointestina... ORPHA:285
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis,... OMIM:616457
Whim Syndrome
Cellulitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine morp... ORPHA:51636
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Kawasaki Disease
Hypoalbuminemia, Strawberry tongue, Diarrhea, Leukocytosis, Nausea and vomiting, Thrombocytosis, ... ORPHA:2331
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Polycystic ovaries, Enterocol... ORPHA:79259
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Malabsorption, Nausea and vomiting, A... ORPHA:904
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Splenomegaly, Chronic constipation, Orchitis, Crohn's disease, Ep... OMIM:249100
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:131100
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... ORPHA:275761
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Isolated Biliary Atresia
Failure to thrive, Decreased liver function, Hypopituitarism, Atretic gallbladder, Splenomegaly, ... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic failure, Villous atrophy, Hyperlipidemia, Splenomegaly, Biliary hyperplas... ORPHA:567983
Coffin-Lowry Syndrome
Narrow palate, High palate, Rectal prolapse OMIM:303600
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, D... ORPHA:36426
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Parotitis, Hepatosplenomegaly, Splenomegaly, Abdominal pain, Arthrit... OMIM:620376
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Splenomegaly, Iridocyclitis, Gener... OMIM:181000
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Increased circulating very long-chain fatty acid... OMIM:609313
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ... OMIM:260400
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Atrophic scars, Congenital pyloric atresia, Elevated circulating creatine kinase concen... ORPHA:158684
Duodenal Atresia
Duodenal atresia OMIM:223400
Muir-Torre Syndrome
Colonic diverticula, Duodenal adenocarcinoma, Benign gastrointestinal tract tumors, Adenoma sebac... OMIM:158320
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Abdominal pain, Hydrocele testis, Hyperlipidemia ORPHA:567546
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Recurrent infection of the gastrointe... OMIM:301110
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Fumarase Deficiency
Hepatic failure, High palate, Necrotizing enterocolitis, Mitochondrial swelling OMIM:606812
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Splenomegaly, Gastr... ORPHA:809
Williams-Beuren Syndrome
Colonic diverticula, Gastroesophageal reflux, Recurrent otitis media, Chronic constipation, Feedi... OMIM:194050
Dextrocardia
Intestinal malrotation, Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia ORPHA:1666
Liver Disease, Severe Congenital
Diarrhea, Hyperbilirubinemia, Abdominal distention, Hypoproteinemia, Chronic gastritis, Hypocalce... OMIM:619991
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Tracheoes... ORPHA:537
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Lipoma, Narrow palate, Hamar... ORPHA:109
Acrocephalopolydactylous Dysplasia
Polysplenia, Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intestine OMIM:200995
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Failure to thrive, High palate, Glossoptosis, Tongue nodule... OMIM:311900
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Pheochromocytom... OMIM:162300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Azoospermia, Splenom... ORPHA:2072
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Hyperbilirubinemia, Hypersplenism, Bilateral cleft palate,... OMIM:301068
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Gastroesophageal reflux, Failure to thrive, Increased circulating ferritin conce... OMIM:619534
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat... OMIM:617137
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Gl... ORPHA:2886
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Nausea and vomiting, Intestinal atresia, Enamel hypoplasia, Abdominal... ORPHA:79403
Fraser Syndrome 2