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Gene: Tff1 MGI:88135

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Gene Summary

Name:
trefoil factor 1
Synonyms:
PS2,  Bcei

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating serum albumin level Tff1tm1a(EUCOMM)Wtsi HOM Early adult 5.30×10-09
decreased circulating total protein level Tff1tm1a(EUCOMM)Wtsi HOM Early adult 3.05×10-05
increased lean body mass Tff1tm1a(EUCOMM)Wtsi HOM Early adult 5.26×10-05
decreased circulating fructosamine level Tff1tm1a(EUCOMM)Wtsi HOM Early adult 8.11×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Tff1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Tff1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Tff1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Tff1tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Tff1tm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 70 images

Tff1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Tff1tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Tff1tm1a(EUCOMM)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI
Tff1tm1a(EUCOMM)Wtsi
abnormal sebaceous gland morphology, HOM, Female, WTSI
Tff1tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Tff1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tff1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Gastric Cancer
Stomach cancer OMIM:613659
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Desmoid Disease, Hereditary
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Jejunal Atresia
Jejunal atresia OMIM:243600
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... ORPHA:263665
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Lymphoma, Malabsorption ORPHA:100025
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Diarrhea 9
Villous atrophy OMIM:618168
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast ORPHA:618
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology ORPHA:281090
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Chylous Ascites
Neoplasm, Abnormal intestine morphology ORPHA:1160
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... OMIM:617100
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Dengue Fever
Hypoproteinemia ORPHA:99828
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation ORPHA:1201
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2070
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... OMIM:158350
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia OMIM:608104
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Duodenal Atresia
Duodenal atresia OMIM:223400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hypoalbuminemia OMIM:617021
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma, Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carc... ORPHA:217390
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer, Breast carcinoma OMIM:608615
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight ORPHA:1667
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation ORPHA:79405
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia ORPHA:367
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... ORPHA:440437
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbi... OMIM:251880
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... ORPHA:83469
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation ORPHA:79406
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina... OMIM:619055
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia OMIM:618329
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circula... ORPHA:89842
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation ORPHA:79411
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom... ORPHA:79409
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hypoalbuminemia, Weight loss OMIM:619487
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Dysphagia, Abn... OMIM:226600
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... OMIM:175200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... ORPHA:14
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Alg12-Cdg
Hyponatremia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Neoplasm of the skin OMIM:616395
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Hypotriglyceri... ORPHA:2298
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality... OMIM:222470
Intussusception
Intussusception OMIM:147710
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Pierson Syndrome
Hypoproteinemia OMIM:609049
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Fg Syndrome 3
Pyloric stenosis OMIM:300406
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... ORPHA:2929
Aicardi Syndrome
Hiatus hernia, Cleft palate, Carcinoma, Teratoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... OMIM:304050
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Galloway-Mowat Syndrome 1
Small for gestational age, Hypoalbuminemia OMIM:251300
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Esophageal strictu... OMIM:305000
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Whim Syndrome
Abnormal small intestine morphology, Papilloma, Cutaneous melanoma, Cervix cancer, Verrucae, Paro... ORPHA:51636
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Dextrocardia
Neuroblastoma, Meckel diverticulum, Intestinal malrotation ORPHA:1666
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Hypoalbuminemia ORPHA:79396
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failur... OMIM:613658
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Primary Sclerosing Cholangitis
Hypoalbuminemia, Weight loss ORPHA:171
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Chronic Granulomatous Disease
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption ORPHA:379
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation OMIM:615577
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Lymphoma, Inflammation of the ... OMIM:614700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Smith-Lemli-Opitz Syndrome
Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo... OMIM:270400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Dysphagia OMIM:619461
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... ORPHA:1199
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... ORPHA:904
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss OMIM:619381
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Wolfram Syndrome
Gastrointestinal hemorrhage, Gastric ulcer, Malabsorption ORPHA:3463
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time OMIM:619377
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematological neoplasm, Hematemesis, Enterocolitis, Hemat... ORPHA:73263
Matthew-Wood Syndrome
Duodenal stenosis ORPHA:2470
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... ORPHA:731
Kindler Epidermolysis Bullosa
Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... ORPHA:2908
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tarp Syndrome
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology ORPHA:2886
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis ORPHA:809
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Inflammation of the large intestine, Colitis, Anoperineal fi... OMIM:301074
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Enterocolitis, Abno... ORPHA:391487
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Leptospirosis
Hyperproteinemia ORPHA:509
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Autoimmune Lymphoproliferative Syndrome
Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T-cell lymphoma... ORPHA:3261
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Acute myeloid leukemia, Myelodysplasia, Leukemia, Stea... ORPHA:811
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... OMIM:301068
Isolated Biliary Atresia
Acholic stools, Fat malabsorption ORPHA:30391
Syndromic Diarrhea
Hepatoblastoma, Villous atrophy, Colitis, Gastritis ORPHA:84064
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology OMIM:601776
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma ORPHA:221
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:1708
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... OMIM:190685
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... OMIM:619573
Fanconi Anemia
Aganglionic megacolon, Myelodysplasia, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula... ORPHA:84
Trisomy 8P
Neuroblastoma, Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Pyloric stenosis, Renal cell carcinoma ORPHA:93111
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Steatorrhea OMIM:557000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix ORPHA:2072
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Hemangioma, Int... OMIM:135900
Viss Syndrome
Exostosis of the external auditory canal, Chronic gastritis, Duodenitis, Intestinal malrotation, ... OMIM:619472
Knobloch Syndrome 2
Pyloric stenosis OMIM:618458
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Cleft palate, Facial capillary hemangioma OMIM:274000
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Pmm2-Cdg
Reduced thyroxin-binding globulin, Failure to thrive, Hypoalbuminemia ORPHA:79318
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... OMIM:312870
Wolf-Hirschhorn Syndrome
Hemangioma, Malrotation of small bowel, Gastroesophageal reflux, Cleft palate OMIM:194190
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia OMIM:606170
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348

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 Tff1

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 Tff1.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Trefoil factor 1 inhibits the development of esophageal adenocarcinoma from Barrett's epithelium. Laboratory investigation; a journal of technical methods and pathology (March 2022) Tff1tm1a(EUCOMM)Wtsi 35279702
Premalignant pancreatic cells seed stealth metastasis in distant organs in mice. Oncogene (March 2021) Tff1tm1a(EUCOMM)Wtsi 33649537
Nuclear MYH9-induced CTNNB1 transcription, targeted by staurosporin, promotes gastric cancer cell anoikis resistance and metastasis. Theranostics (June 2020) Tff1tm1a(EUCOMM)Wtsi PMC7359096
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tff1tm1a(EUCOMM)Wtsi PMC7263671
Trefoil Factor Family 1 Inhibits the Development of Hepatocellular Carcinoma by Regulating β-Catenin Activation. Hepatology (Baltimore, Md.) (March 2020) Tff1tm1a(EUCOMM)Wtsi 31733149
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tff1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tff1tm1a(EUCOMM)Wtsi PMC6459510
Loss of trefoil factor 1 inhibits biliary regeneration but accelerates the hepatic differentiation of progenitor cells in mice. Biochemical and biophysical research communications (October 2018) Tff1tm1a(EUCOMM)Wtsi 30333090
Trefoil factor 1 inhibits epithelial-mesenchymal transition of pancreatic intraepithelial neoplasm. The Journal of clinical investigation (July 2018) Tff1tm1a(EUCOMM)Wtsi 29809170
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Tff1tm1a(EUCOMM)Wtsi PMC5827107
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Tff1tm1a(EUCOMM)Wtsi PMC3996542

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tff1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tff1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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