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Gene: Foxl1 MGI:1347469

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box L1
Synonyms:
Fkh6,  fkh6,  fkh-6,  FREAC7

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Otosclerosis 11
OMIM:620576

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Growth delay OMIM:251850
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology 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
Villous atrophy, Crypt hyperplasia 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
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Familial Intestinal Malrotation
Intestinal malrotation, Volvulus ORPHA:508410
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level 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
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Growth delay OMIM:613291
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay OMIM:246700
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Small Bowel Atresia
Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hypoplasia, ... ORPHA:1201
Autoinflammation With Infantile Enterocolitis
Short stature, Villous atrophy, Enterocolitis OMIM:616050
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Feingold Syndrome Type 2
Short stature, Jejunal atresia ORPHA:391646
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Growth delay ORPHA:100025
Trichohepatoenteric Syndrome 2
Colitis, Intrauterine growth retardation, Villous atrophy OMIM:614602
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate 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
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Gastroschisis
Volvulus, Intestinal malrotation, Intrauterine growth retardation, Intestinal atresia, Intestinal... ORPHA:2368
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Tumor Predisposition Syndrome 4
Stomach cancer OMIM:609265
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation OMIM:618985
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Growth delay OMIM:619510
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, 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, Testicular seminoma, Short stature, Cryptorchidism ORPHA:281090
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Congenital Short Bowel Syndrome
Intestinal malrotation, Short stature, Intestinal hypoplasia ORPHA:2301
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Jejunitis ORPHA:398063
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Volvulus Of Midgut
Intestinal malrotation, Neonatal intestinal obstruction, Volvulus OMIM:193250
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy OMIM:209920
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy OMIM:608776
Chylous Ascites
Abnormal intestine morphology ORPHA:1160
Immunodeficiency 31C
Protein-losing enteropathy, Growth delay, Villous atrophy, Delayed puberty, Short stature, Gastro... OMIM:614162
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Villous atrophy, Colitis, Growth delay OMIM:614700
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception OMIM:619377
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Pyloric stenosis OMIM:617219
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Short stature, High palate, Bilateral cryptorchidism, Pyloric stenosis 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, Gastric ulcer, Esophageal ulceration OMIM:618372
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
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
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption ORPHA:309108
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis 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
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy ORPHA:567983
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Arteriosclerosis, Severe Juvenile
Short stature, Delayed puberty, Gastric ulcer OMIM:208060
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal fistula OMIM:612567
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Serkal Syndrome
Malrotation of small bowel, Growth delay ORPHA:139466
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Abnormal intestine morphology, Enterocolitis, Delayed puberty, Short stature, Es... ORPHA:391487
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Syndromic Diarrhea
Intrauterine growth retardation, Villous atrophy, Hypoplasia of the thymus, Hepatoblastoma, Gastr... ORPHA:84064
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Fg Syndrome 3
Cryptorchidism, Pyloric stenosis OMIM:300406
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Short... ORPHA:96184
Irida Syndrome
Abnormal intestine morphology ORPHA:209981
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Growth delay, Intrauterine growth retardation, Villous atrophy, Perianal derm... 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, Intrauterine growth retardation, Short stature, Py... ORPHA:1715
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Intrauterine growth retardation, Cryptorchidism, Neonatal death 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, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... ORPHA:480536
Trichohepatoenteric Syndrome 1
Short stature, Bifid uvula, Intrauterine growth retardation, Villous atrophy OMIM:222470
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Villous atrophy, Pancreatic fibrosis OMIM:557000
Craniofacial Dyssynostosis With Short Stature
Short stature, Cryptorchidism, Pyloric stenosis OMIM:218350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl... ORPHA:512
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Mednik Syndrome
Microcolon, Volvulus, Neonatal death, Jejunal atresia, Growth delay OMIM:609313
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Cholelithiasis, Fat malabsorption OMIM:211600
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Intrauterine growth retardation, Short stature, Py... OMIM:616395
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Growth delay, Pyloric stenosis OMIM:256300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retarda... OMIM:243150
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Pyloric stenosis OMIM:616355
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis OMIM:617100
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Intussusception
Intussusception OMIM:147710
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis ORPHA:79350
Alg9-Cdg
Bifid uvula, Rhizomelia, Gastroesophageal reflux, Villous atrophy, Hypoplastic nipples, Hypoplasi... ORPHA:79328
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Villous atrophy, Crohn's disease, Gastritis, Colitis, Duodenal ulcer OMIM:619381
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... OMIM:147060
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation ORPHA:79302
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption, Growth delay ORPHA:71
Oculoskeletodental Syndrome
Short stature, Protein-losing enteropathy, Macroglossia, Cryptorchidism OMIM:618440
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis ORPHA:2575
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Midgut malrotation, Growth de... OMIM:263750
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Pyloric stenosis, Frequent Giardia lamblia... OMIM:615577
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Intrauterine growth retardation, Cryptorchidism, Aplasia/Hyp... ORPHA:2470
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Dysphagia, Pyloric stenosis OMIM:619461
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption, Acholic stools OMIM:607765
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Postnatal growth retardation, Fat malabsorption ORPHA:79303
Marden-Walker Syndrome
High, narrow palate, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidis... OMIM:248700
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Pyloric stenosis ORPHA:169189
Griscelli Syndrome
Short stature, Pyloric stenosis ORPHA:381
Lowry-Maclean Syndrome
High, narrow palate, Bilateral cryptorchidism, Intrauterine growth retardation, Midgut malrotatio... ORPHA:2409
Dextrocardia
Intestinal malrotation, Meckel diverticulum, Pancreatic hypoplasia ORPHA:1666
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Pancreatic lymphangiectasis, Postnatal growth retardation, Cryptorchi... ORPHA:1655
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Wolfram Syndrome
Gastrointestinal hemorrhage, Delayed puberty, Gastric ulcer ORPHA:3463
Tarp Syndrome
Meckel diverticulum, Intrauterine growth retardation, Neonatal death, High palate, Glossoptosis, ... OMIM:311900
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Growth delay, C... ORPHA:2929
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Growth delay, Intestinal ... ORPHA:1199
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, High palate, Cleft palate OMIM:235255
Ulnar-Mammary Syndrome
Breast aplasia, Cryptorchidism, Ectopic anus, Hypoplastic nipples, Delayed puberty, Short stature... ORPHA:3138
Chronic Granulomatous Disease
Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Cryptorchidism OMIM:618183
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Cryptorchidi... ORPHA:93932
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Mild postnatal growth retardation, Crypt... OMIM:235510
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis OMIM:200995
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Cutis Laxa, Autosomal Recessive, Type Iiib
Intrauterine growth retardation, Cryptorchidism, Pyloric stenosis OMIM:614438
Williams Syndrome
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Abnormal gastric muco... ORPHA:904
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Anoperineal fistula, Chronic gastritis, Esophagitis, Periana... OMIM:301074
2Q37 Microdeletion Syndrome
Supernumerary nipple, Short stature, Pyloric stenosis ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Cleft palate, Pyloric stenosis ORPHA:261197
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis ORPHA:90349
Mosaic Trisomy 16
Intrauterine growth retardation, Abnormality of the gastrointestinal tract, Meckel diverticulum, ... ORPHA:1708
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis ORPHA:809
Tarp Syndrome
Intrauterine growth retardation, Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tong... ORPHA:2886
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Cryptorchidism, Sho... OMIM:305450
Hardikar Syndrome
Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Unilateral cleft palate, Gastr... OMIM:301068
Chromosome 13Q33-Q34 Deletion Syndrome
Anteriorly placed anus, Cryptorchidism, Anal atresia, Short stature, High palate, Pyloric stenosis OMIM:619148
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Xerostomia, Anterior pituitary dysgenesis ORPHA:227990
Osteogenesis Imperfecta, Type X
Short stature, Rhizomelia, Pyloric stenosis OMIM:613848
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Delayed puberty, Growth delay, Gastric ulcer, Esophageal varix ORPHA:2072
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Dysphagia, Pyloric stenosis OMIM:613327
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Recurrent gastroenteritis, Abnormal intestine morphology, Gastritis, Colitis ORPHA:37042
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Xerostomia, Anterior pituitary dysgenesis, Autoimmune hypoparathyroidism, Cel... ORPHA:227982
Knobloch Syndrome 2
Pyloric stenosis OMIM:618458
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Hypoparathyroidism OMIM:240300
Coffin-Siris Syndrome 1
Intestinal malrotation, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchi... OMIM:135900
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Ileitis, Gastritis, Enterocolitis, ... ORPHA:73263
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Growth delay, Biliary hyperplasia, Hepat... ORPHA:731
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... OMIM:265380
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Ankyloglossia, Intrauterine growth retardation, Short stature, Growth delay,... ORPHA:261330
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, Esophageal at... OMIM:229850
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cryptorchidism, Cleft palate ORPHA:2953
Jacobsen Syndrome
Annular pancreas, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Ectopi... ORPHA:2308
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Ante... ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Hypoplasia of the thymus, Growth delay, Rectal prolapse, Pyloric stenosis OMIM:613177
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Esophageal atresia, Short... ORPHA:96149
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, High palate,... OMIM:601776
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Delayed puberty, High palate, Ulcerative co... OMIM:617137
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Celiac disease, Chronic gastritis ORPHA:183675
Jacobsen Syndrome
Intrauterine growth retardation, Annular pancreas, Cryptorchidism, Pyloric stenosis OMIM:147791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Pyloric stenosis ORPHA:93111
Marden-Walker Syndrome
Severe short stature, Bifid uvula, Intrauterine growth retardation, Submucous cleft hard palate, ... ORPHA:2461
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Intrauterine growth reta... ORPHA:84
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Cryptorchidism, Cleft palate OMIM:219000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:83617
Hennekam Syndrome
Mild postnatal growth retardation, Pyloric stenosis ORPHA:2136
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:264450
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Breast hypoplasia... OMIM:181450
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula ORPHA:90348
Autoimmune Lymphoproliferative Syndrome
Colitis, Gastritis, Neoplasm of the tongue, Hepatocellular carcinoma ORPHA:3261
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Intrauterine growth retardation, Cryptorchid... OMIM:194190
Plague
Inflammation of the large intestine, Ileitis, Enterocolitis, Hematemesis, Glossitis ORPHA:707
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Anal atresia, ... OMIM:606170
Liver Disease, Severe Congenital
Protein-losing enteropathy, Pancreatic hypoplasia, Chronic gastritis, Intrauterine growth retarda... OMIM:619991
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Supernumerary nipple, Cryptorchidism, Submucous cleft hard ... OMIM:235730
Microphthalmia, Syndromic 1
High, narrow palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High palate, Growth del... OMIM:309800
Otosclerosis 11
OMIM:620576

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 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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