Not currently registered for phenotyping at IMPC

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

Gene Summary

forkhead box L1
Fkh6,  fkh6,  fkh-6,  FREAC7

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Foxl1 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 Foxl1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Otosclerosis 11

The table below shows human diseases predicted to be associated to Foxl1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Abnormal intestine morphology, Villous atrophy OMIM:251850
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 9
Villous atrophy OMIM:618168
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Gastric Cancer
Stomach cancer OMIM:613659
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Familial Intestinal Malrotation
Intestinal malrotation, Volvulus ORPHA:508410
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Chylomicron Retention Disease
Growth delay, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Bile Acid Malabsorption, Primary, 1
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Growth delay, Enterocolitis, Vo... ORPHA:95427
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Small Bowel Atresia
Intestinal hypoplasia, Intestinal malrotation, Short stature, Intrauterine growth retardation, Je... ORPHA:1201
Autoinflammation With Infantile Enterocolitis
Short stature, Enterocolitis, Villous atrophy OMIM:616050
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ... ORPHA:157798
Feingold Syndrome Type 2
Short stature, Jejunal atresia ORPHA:391646
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology ORPHA:100025
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Villous atrophy, Colitis OMIM:614602
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Intestinal perforation, Intestinal malrotation, Volvulus, Intrauterine growth retardation, Intest... ORPHA:2368
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Congenital pyloric atresia OMIM:619817
Tumor Predisposition Syndrome 4
Stomach cancer OMIM:609265
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Postnatal growth retardation, Delayed puberty, Short stature OMIM:618985
Immunodeficiency 85 And Autoimmunity
Growth delay, Villous atrophy OMIM:619510
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Netherton Syndrome
Intestinal atresia, Recurrent infection of the gastrointestinal tract, Villous atrophy OMIM:256500
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Abnormal small... ORPHA:90362
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Short stature ORPHA:2301
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Villous atrophy ORPHA:398063
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis OMIM:209920
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Volvulus Of Midgut
Intestinal malrotation, Neonatal intestinal obstruction, Volvulus OMIM:193250
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Villous atrophy OMIM:304790
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy OMIM:608776
Chylous Ascites
Abnormal intestine morphology ORPHA:1160
Immunodeficiency 31C
Delayed puberty, Protein-losing enteropathy, Gastrointestinal eosinophilia, Short stature, Growth... OMIM:614162
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Growth delay, Inflammation of the large intestine, Atrophic gastritis, Villous atrophy OMIM:614700
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Ileoileal intussusception, Villous atrophy OMIM:619377
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Postnatal growth retardation OMIM:617219
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism, Short stature ORPHA:314575
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Esophageal stenosis, Intrauterine growth retardation, Colitis OMIM:615190
Cap Polyposis
Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis ORPHA:160148
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Mitchell-Riley Syndrome
Annular pancreas, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Absent gall... OMIM:615710
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption, Cholelithiasis ORPHA:309108
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Hernia, Hiatus
Hiatus hernia OMIM:142400
Duodenal Atresia
Duodenal atresia OMIM:223400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Severe short stature, Congenital pyloric atresia ORPHA:2617
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy ORPHA:567983
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Small intestinal polyposis, Growth delay, Hematochezia, Adenomatous colonic pol... ORPHA:329971
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis OMIM:616744
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Hematochezia,... ORPHA:2070
Arteriosclerosis, Severe Juvenile
Delayed puberty, Gastric ulcer, Short stature OMIM:208060
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Enterocolitis, Enterocutaneous fistula OMIM:612567
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Mungan Syndrome
Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum OMIM:611376
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Inflammation of the large intestine OMIM:618108
Serkal Syndrome
Malrotation of small bowel, Growth delay ORPHA:139466
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Duodenal atresia ORPHA:3004
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormal intestine morphology, Esophageal carcinoma, Enterocolitis, Short statur... ORPHA:391487
Syndromic Diarrhea
Gastritis, Colitis, Hypoplasia of the thymus, Short stature, Hepatoblastoma, Intrauterine growth ... ORPHA:84064
Protein-losing enteropathy, Macroglossia ORPHA:79320
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Fat malabsorption OMIM:200100
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism OMIM:300406
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, High palate, Pyloric stenosis, Short stature, Bifid uvula, Cleft pa... ORPHA:96184
Irida Syndrome
Abnormal intestine morphology ORPHA:209981
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Growth delay, Cleft palate, Atrophic gastritis, Intrauterine growth re... OMIM:619573
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Villous atrophy OMIM:212065
Trisomy 18P
High, narrow palate, Bilateral cryptorchidism, Pyloric stenosis, Short stature, Intrauterine grow... ORPHA:1715
Protein-losing enteropathy ORPHA:95428
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Protein-losing enteropathy, Neonatal death, Cryptorchidism OMIM:608104
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation OMIM:249210
Duodenal Atresia
Annular pancreas, Duodenal atresia ORPHA:1203
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointestinal ca... OMIM:175500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Colon cancer,... ORPHA:480536
Trichohepatoenteric Syndrome 1
Intrauterine growth retardation, Bifid uvula, Short stature, Villous atrophy OMIM:222470
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Colon cancer, Hematochezia, Intussusception, Duodenal a... OMIM:174900
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Pancreatic fibrosis, Villous atrophy OMIM:557000
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Cryptorchidism, Short stature OMIM:218350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach morphology, Intussusc... ORPHA:512
Attenuated Familial Adenomatous Polyposis
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... ORPHA:220460
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Mednik Syndrome
Microcolon, Growth delay, Volvulus, Neonatal death, Jejunal atresia OMIM:609313
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Short stature, Intrauterine grow... OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Fat malabsorption, Cholelithiasis OMIM:211600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux, Growth delay OMIM:256300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Hypoplasia of the thymus, Intestinal malrotation, Enteroco... OMIM:243150
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Houge-Janssens Syndrome 1
Pyloric stenosis, Intrauterine growth retardation OMIM:616355
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis OMIM:617100
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Intussusception OMIM:147710
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Rhizomelia, Gastroesophageal reflux, Hypoplasia of the ovary, Hypoplastic nipples, Bifid uvula, V... ORPHA:79328
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... OMIM:155310
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Esophagitis, Gastroesophageal reflux ORPHA:79350
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Crohn's disease, Colitis OMIM:619381
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p... OMIM:147060
Chylomicron Retention Disease
Growth delay, Steatorrhea, Fat malabsorption ORPHA:71
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation ORPHA:79302
Oculoskeletodental Syndrome
Short stature, Macroglossia, Protein-losing enteropathy, Cryptorchidism OMIM:618440
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Hereditary Mixed Polyposis Syndrome
Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Rectal polyposis, A... ORPHA:157794
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Midgut malrotation, Pyloric stenosis, Growth delay, Cleft palate, C... OMIM:263750
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Decreased response to growth hormone stimulation test, Frequent Giardia lamblia... OMIM:615577
Bile Acid Synthesis Defect, Congenital, 1
Acholic stools, Steatorrhea, Fat malabsorption OMIM:607765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa OMIM:616100
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth reta... ORPHA:2470
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Dysphagia OMIM:619461
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malrotation, Short s... OMIM:115470
Abnormal jejunum morphology ORPHA:449280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Growth delay, Inflammation of the large intestine, Atrophic gastritis, Lymphocyt... ORPHA:436159
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Cryptorchidism, High palate OMIM:310400
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Fat malabsorption ORPHA:79303
Marden-Walker Syndrome
Postnatal growth retardation, High, narrow palate, High palate, Pyloric stenosis, Cleft palate, Z... OMIM:248700
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Cryptorchidism ORPHA:169189
Griscelli Syndrome
Pyloric stenosis, Short stature ORPHA:381
Lowry-Maclean Syndrome
High, narrow palate, Midgut malrotation, Bilateral cryptorchidism, Pyloric stenosis, Growth delay... ORPHA:2409
Meckel diverticulum, Intestinal malrotation, Pancreatic hypoplasia ORPHA:1666
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palat... ORPHA:1655
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Wolfram Syndrome
Delayed puberty, Gastrointestinal hemorrhage, Gastric ulcer ORPHA:3463
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Cleft palate, Neonatal death, Intrauterine growth... OMIM:311900
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Protein-losing enteropathy, Neoplasm of the pancreas, Stomach cancer... ORPHA:2929
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Barrett e... ORPHA:1199
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Cleft palate, Cryptorchidism OMIM:235255
Ulnar-Mammary Syndrome
Delayed puberty, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric stenosi... ORPHA:3138
Chronic Granulomatous Disease
Pyloric stenosis, Tracheoesophageal fistula ORPHA:379
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Cryptorchidism OMIM:618183
Fg Syndrome Type 1
Gastroesophageal reflux, Small pituitary gland, High palate, Anal atresia, Abnormal large intesti... ORPHA:93932
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Mild pos... OMIM:235510
Acrocephalopolydactylous Dysplasia
Hypoplasia of the small intestine, Pancreatic fibrosis, Hypoplastic colon OMIM:200995
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Cryptorchidism, Intrauterine growth retardation OMIM:614438
Williams Syndrome
Peptic ulcer, Rectal prolapse, Gastroesophageal reflux, Cholelithiasis, Tracheoesophageal fistula... ORPHA:904
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Chronic gastritis, Esophagitis, Inflammation of the large ... OMIM:301074
2Q37 Microdeletion Syndrome
Pyloric stenosis, Supernumerary nipple, Short stature ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Gastroesophageal reflux ORPHA:261197
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation ORPHA:90349
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus, Intrauter... ORPHA:1708
Mixed Connective Tissue Disease
Gastroesophageal reflux, Gastrointestinal hemorrhage, Gastritis, Xerostomia ORPHA:809
Tarp Syndrome
Glossoptosis, Cryptorchidism, Cleft palate, Abnormal duodenum morphology, Intrauterine growth ret... ORPHA:2886
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anal atresia, Intestinal malrotation, Pyloric stenosis, Short statu... OMIM:305450
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Anal atresia, Pyloric stenosis, Short stature, Cryptorchidism, Anteriorly placed anus OMIM:619148
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Autoimmune Polyendocrinopathy Type 4
Celiac disease, Anterior pituitary dysgenesis, Xerostomia, Atrophic gastritis ORPHA:227990
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Rhizomelia, Short stature OMIM:613848
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Azoospermia, Esophageal varix, Growth delay, Gastric ulcer ORPHA:2072
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Ileus, Dysphagia OMIM:613327
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Abnormal intestine morphology, Recurrent gastroenteritis, Ileus, Colitis ORPHA:37042
Autoimmune Polyendocrinopathy Type 3
Anterior pituitary dysgenesis, Autoimmune hypoparathyroidism, Atrophic gastritis, Celiac disease,... ORPHA:227982
Knobloch Syndrome 2
Pyloric stenosis OMIM:618458
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Atrophic gastritis OMIM:240300
Coffin-Siris Syndrome 1
Postnatal growth retardation, Duodenal ulcer, High palate, Intestinal malrotation, Short stature,... OMIM:135900
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Enterocolitis, Hematochezia, Ileitis... ORPHA:73263
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Protein-losing enteropathy, Esophageal varix, Pancreatic cysts, Bili... ORPHA:731
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... OMIM:265380
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Ankyloglossia, Pyloric stenosis, Short stature, Growth delay, Cleft palate, ... ORPHA:261330
Fryns Syndrome
Stillbirth, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intesti... OMIM:229850
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft palate, High palate, Cryptorchidism ORPHA:2953
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Short stature, Growth d... ORPHA:2308
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Pyloric stenosis, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:618419
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Gastroesophageal reflux, Anterior pituitary hypoplasia, Pyloric stenosis, Shor... ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Gastroesophageal reflux, Hypoplasia of the thymus, Pyloric stenosis, Growth delay OMIM:613177
Distal Deletion 12Q
High, narrow palate, Annular pancreas, Esophageal atresia, Unilateral cryptorchidism, Pyloric ste... ORPHA:96149
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Cryptorchidism, ... OMIM:601776
Frontometaphyseal Dysplasia 2
Delayed puberty, Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palat... OMIM:617137
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Celiac disease, Chronic gastritis ORPHA:183675
Jacobsen Syndrome
Pyloric stenosis, Annular pancreas, Cryptorchidism, Intrauterine growth retardation OMIM:147791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Aplasia/Hypoplasia of the pancreas ORPHA:93111
Marden-Walker Syndrome
Pyloric stenosis, Growth delay, Bifid uvula, Severe short stature, Cleft palate, Intrauterine gro... ORPHA:2461
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Azoospermia, High pa... ORPHA:84
Fraser Syndrome 1
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormality of the anus OMIM:219000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Pyloric... ORPHA:83617
Hennekam Syndrome
Pyloric stenosis, Mild postnatal growth retardation ORPHA:2136
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Trisomy 8P
Annular pancreas, Bifid uvula, Cleft palate, Malrotation of small bowel, Cryptorchidism, Aplasia/... ORPHA:264450
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip... OMIM:181450
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Postnatal growth retardation, Small bowel diverticula ORPHA:90348
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Gastritis, Colitis ORPHA:3261
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Severe postnatal growth retardation, Short stature, Growth delay, Cleft ... OMIM:194190
Hematemesis, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis ORPHA:707
Genitopatellar Syndrome
Anal stenosis, Anal atresia, Dysphagia, Malrotation of small bowel, Cryptorchidism, Anteriorly pl... OMIM:606170
Liver Disease, Severe Congenital
Protein-losing enteropathy, Chronic gastritis, Pancreatic hypoplasia, Biliary hyperplasia, Intrau... OMIM:619991
Mowat-Wilson Syndrome
Aganglionic megacolon, Pyloric stenosis, Short stature, Cleft palate, Abnormal enteric ganglion m... OMIM:235730
Microphthalmia, Syndromic 1
High, narrow palate, Rectal prolapse, Aganglionic megacolon, High palate, Anal atresia, Pyloric s... OMIM:309800
Otosclerosis 11


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 Foxl1

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 Foxl1.

No publications found that use IMPC mice or data for Foxl1.

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