Not currently registered for phenotyping at IMPC

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

Gene Summary

T cell leukemia, homeobox 2
Hox11L.1,  NCX,  Tlx1l1,  Ncx1,  Enx,  Hox11l1

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 Tlx2 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 Tlx2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Small Bowel Atresia
Vomiting, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hy... ORPHA:1201
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay OMIM:251850
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Hirschsprung Disease
Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nausea and ... ORPHA:388
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis... ORPHA:35122
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Jejunal Atresia
Jejunal atresia OMIM:243600
Bile Acid Malabsorption, Primary, 1
Growth delay, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, High pala... OMIM:620045
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Chronic constipation OMIM:619465
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy OMIM:615863
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Alpha-Heavy Chain Disease
Abdominal pain, Abnormal small intestine morphology, Growth delay, Malabsorption ORPHA:100025
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Optic disc coloboma, Abnormal large intestinal mucosa morphology, V... ORPHA:92050
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Growth del... ORPHA:75233
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay, Feeding difficulties ORPHA:95713
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom... ORPHA:897
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Chylomicron Retention Disease
Vomiting, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Stea... OMIM:246700
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate OMIM:304100
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
L1 Syndrome
Aganglionic megacolon, Nausea and vomiting ORPHA:275543
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption OMIM:277175
Primary Peritoneal Carcinoma
Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Decreased motor nerve conduction velocity, Diarrhea, Vomiting, Nausea, G... ORPHA:298
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Malignant Peritoneal Mesothelioma
Abdominal pain, Ileus, Abdominal distention ORPHA:168811
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Wolman Disease
Acute hepatic failure, Vomiting, Abdominal distention OMIM:620151
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Chylomicron Retention Disease
Diarrhea, Vomiting, Growth delay, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Neoplasm of the liver, Abdominal distention, Abdominal pain ORPHA:90003
Dermotrichic Syndrome
Aganglionic megacolon, Proportionate short stature ORPHA:99688
Feingold Syndrome Type 2
Short stature, Jejunal atresia ORPHA:391646
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Optic disc coloboma, Intestinal malrotation, Abdominal distention, Anal atres... OMIM:270420
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abdominal distention, Short stature, Growth delay, Hepatocellular carcinoma ORPHA:369
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Intrauterine growth ret... OMIM:608104
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
X-Linked Creatine Transporter Deficiency
Short stature, Aganglionic megacolon, Ileus, Constipation ORPHA:52503
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abnormality of the autonomic ner... OMIM:611376
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Piebald Trait
Aganglionic megacolon OMIM:172800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Abnormality of the gastrointestinal trac... ORPHA:2241
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Growth delay, Abdominal distention, Pyloric stenosis OMIM:256300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation OMIM:618985
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abnormality of the g... ORPHA:2070
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Intrauterine growth retardation ORPHA:1438
Goldberg-Shprintzen Megacolon Syndrome
Short stature, Aganglionic megacolon, Cleft palate ORPHA:66629
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Chronic constipation ORPHA:261222
Bresek Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Growth delay, Cleft palate, Optic nerve h... ORPHA:85284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Haddad Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous system physiology ORPHA:99803
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Desmoplastic Small Round Cell Tumor
Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention ORPHA:83469
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption ORPHA:452
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Nausea, Constipation, Episodic vomiting, Abdominal di... ORPHA:100924
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Disproportionate short-trunk short stature, Protuberant abdomen, Abdominal ... OMIM:277300
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Postnatal growth retardation, Abdominal pain, Delayed puberty, Abdominal dist... OMIM:212750
Thyroid Hypoplasia
Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay ORPHA:95720
Familial Visceral Myopathy
Aganglionic megacolon, Cleft palate, Abdominal distention ORPHA:2604
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease... ORPHA:79327
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Intrauterine growt... OMIM:615710
Pancreatic Colipase Deficiency
Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi... ORPHA:51890
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
Qazi-Markouizos Syndrome
High, narrow palate, Chronic constipation, Abdominal distention ORPHA:3010
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Cirrhosis, Familial
Fulminant hepatitis, Esophageal varix, Abdominal distention OMIM:215600
Congenital Alveolar Capillary Dysplasia
Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis... ORPHA:210122
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Peritoneal Cystic Mesothelioma
Abdominal pain, Constipation, Abdominal distention ORPHA:168816
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retarda... ORPHA:436252
Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Septo-optic d... ORPHA:59315
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy, Steatorrhea OMIM:602579
Cerebral Creatine Deficiency Syndrome 1
Vomiting, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Constipation, Short stature OMIM:300352
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention, Macrogl... ORPHA:226313
Waardenburg Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia... ORPHA:3440
Radiation Proctitis
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... ORPHA:70475
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Anal atresia, Growth delay, Cleft palate OMIM:614749
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ... OMIM:239300
Protein-losing enteropathy, Macroglossia, Feeding difficulties ORPHA:79320
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Gastroesophageal reflux, Feeding difficulties, Abdominal distention OMIM:620275
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis OMIM:615190
Currarino Syndrome
Anal stenosis, Chronic constipation, Anal fistula, Perianal abscess, Neurogenic bladder, Abdomina... OMIM:176450
Meckel Syndrome, Type 8
Cleft palate, Abdominal distention OMIM:613885
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Abdominal distention OMIM:619345
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Feeding difficulties, Pyloric stenosis OMIM:617219
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Abdominal pain, Abdominal distention, Steatorrhea, Colitis, Growth delay ORPHA:309031
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Martinez-Frias Syndrome
Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Tracheoesophageal fistu... OMIM:601346
Duodenal Atresia
Duodenal atresia OMIM:223400
Trichohepatoenteric Syndrome 2
Diarrhea, Intrauterine growth retardation, Villous atrophy, Colitis, Chronic diarrhea, Bloody dia... OMIM:614602
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Aganglionic megacolon, Constipation, High palate OMIM:162300
Cartilage-Hair Hypoplasia
Anal stenosis, Absent pubertal growth spurt, Neonatal short-limb short stature, Malabsorption, Ag... OMIM:250250
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Feeding difficulties in infancy, Enterocolitis, Episodic vom... OMIM:616050
Orofaciodigital Syndrome V
Bifid uvula, Optic disc coloboma, Hamartoma of tongue, Ankyloglossia, Feeding difficulties, Agang... OMIM:174300
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Abdominal pa... ORPHA:398063
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Diarrhea, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck ORPHA:163961
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Postnatal growth retardation, Abdominal distention, ... ORPHA:1655
Protuberant abdomen ORPHA:221054
Folinic Acid-Responsive Seizures
Optic atrophy, Abdominal distention ORPHA:79097
Aganglionic megacolon ORPHA:2884
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Secretory diarrhea, Abdominal distention, Elevated stool chloride content OMIM:214700
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Chronic constipation, Aganglionic megacolon, Abnormal autonom... OMIM:209880
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Gastroesophageal reflux, Volvulus, Nausea and vomiting, Aganglionic megacolon, Fee... ORPHA:847
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Feeding difficulties, Cleft palate ORPHA:220497
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Congenital pyloric atresia, Intestinal atresia, Abdominal distention ORPHA:79403
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory tachycardia, Gast... ORPHA:85443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Aganglionic megacolon, Anal stenosis, Cleft palate OMIM:614207
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Growth delay OMIM:609313
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Abdominal distention OMIM:600972
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Abdominal distention, High palate, Cleft palate OMIM:235255
Schimke Immuno-Osseous Dysplasia
Intrauterine growth retardation, Abnormal intestine morphology, Disproportionate short-trunk shor... ORPHA:1830
Ramos-Arroyo Syndrome
Severe short stature, Xerostomia, Smooth tongue, Chronic constipation, Aganglionic megacolon, Fee... ORPHA:1051
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Anal atresi... ORPHA:2059
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Aganglionic megacolon, Constipation, Abdominal pain ORPHA:163746
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Cleft palate, Abdominal distention ORPHA:85166
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption ORPHA:935
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri... OMIM:243150
Achondrogenesis Type 1A
Severe short stature, Abdominal distention ORPHA:93299
Thyroid Hemiagenesis
Macroglossia, Constipation, Growth delay, Abdominal distention ORPHA:95719
Joubert Syndrome
Aganglionic megacolon, Feeding difficulties in infancy ORPHA:475
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Abdominal pain, Abdominal distention ORPHA:206484
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... OMIM:174900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Abdominal distention OMIM:619351
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate OMIM:184250
Multiple Endocrine Neoplasia Type 2
Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Aganglionic megacolon, Neoplasm of the... ORPHA:653
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Feeding difficulties, Cleft palate ORPHA:220493
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Ileus, Aganglionic mega... OMIM:609136
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abnormality of the gastrointestinal tract, Abdominal... ORPHA:160
Ovarian Fibroma
Abdominal pain, Abdominal distention ORPHA:314473
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Protuberant abdomen, Steatorrhea, Eso... OMIM:278000
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Aganglionic megacolon, ... ORPHA:247262
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Aganglionic megacolon, Bifid tongue ORPHA:2919
Fraser Syndrome 2
Intestinal malrotation, Anal atresia, Rectal atresia, Abdominal distention OMIM:617666
Lead Poisoning
Vomiting, Anorexia, Abnormality of the autonomic nervous system, Nausea, Constipation, Delayed pu... ORPHA:330015
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Hepatic failure OMIM:619431
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp, Protuberant abdomen ORPHA:457485
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, High palate, Short stature, Anal atresia, Cleft palate ORPHA:2473
Toriello-Carey Syndrome
Anteriorly placed anus, Postnatal growth retardation, Intrauterine growth retardation, Aganglioni... ORPHA:3338
Serkal Syndrome
Malrotation of small bowel, Growth delay ORPHA:139466
Fat malabsorption OMIM:200100
Immunodeficiency 85 And Autoimmunity
Vomiting, Villous atrophy, Tube feeding, Chronic diarrhea, Growth delay OMIM:619510
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Chronic constipation, Ag... ORPHA:870
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Primary Biliary Cholangitis
Hepatic failure, Orthostatic hypotension, Gastrointestinal inflammation, Abdominal distention, St... ORPHA:186
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Growth delay, Feeding difficulties ORPHA:3339
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Hiatus hernia, Aganglionic me... ORPHA:2896
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Diarrhea, Fat malabsorption OMIM:211600
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Feeding difficulties... ORPHA:275761
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Abnormality of the gastrointestinal tract, Abdominal distention, Abdominal pain ORPHA:93552
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Alternating Hemiplegia Of Childhood
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Gastrointestinal dysmotility... ORPHA:2131
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea ORPHA:100086
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Intrauterine growth retardation, Short stature, Feeding difficulties, Pylori... OMIM:616395
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Neoplasm of the liver, Anorexia, Nausea ORPHA:100085
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption OMIM:607765
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Optic atrophy, Diarrhea, Vomiting, Villous atrophy, High palate OMIM:601110
Necrotizing Enterocolitis
Vomiting, Diarrhea, Hypoactive bowel sounds, Abdominal rigidity, Abdominal distention, Bloody dia... ORPHA:391673
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Protein-losing enteropathy ORPHA:95428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Fanconi-Bickel Syndrome
Hepatic failure, Growth delay, Abdominal distention, Hepatocellular carcinoma ORPHA:2088
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Constipation OMIM:613603
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Thyroid Ectopia
Growth delay, Constipation, Abdominal distention, Short stature, Macroglossia, Dysphagia ORPHA:95712
Waardenburg Syndrome, Type 4C
Aganglionic megacolon OMIM:613266
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Growth delay, Villous atrophy, Delayed puberty, Short statu... OMIM:614162
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Vomiting, Submucous cleft hard palate, Aganglionic megacolo... OMIM:235730
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Abdominal distention ORPHA:158684
Donohue Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Abdominal distention OMIM:246200
Metachromatic Leukodystrophy
Abnormal stomach morphology, Decreased nerve conduction velocity, Gastrostomy tube feeding in inf... ORPHA:512
Ovarian Fibrothecoma
Abdominal pain, Abdominal distention ORPHA:314478
Niemann-Pick Disease, Type A
Vomiting, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Short stature OMIM:257200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Chronic diarrhea, Abdominal distention OMIM:620233
Achondrogenesis, Type Ii
Protuberant abdomen, Disproportionate short-trunk short stature, Disproportionate short-limb shor... OMIM:200610
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Hereditary Fructose Intolerance
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Abdominal distention OMIM:619423
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology ORPHA:2847
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Nausea ORPHA:521219
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Fat malabsorption ORPHA:79302
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Reye syndrome-like episodes, Abdomina... OMIM:256810
Ovarian Hyperstimulation Syndrome
Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention ORPHA:64739
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Oculoskeletodental Syndrome
Short stature, Protein-losing enteropathy, Macroglossia OMIM:618440
Abdominal pain, Abdominal distention ORPHA:180229
Glycogen Storage Disease Ib
Inflammation of the large intestine, Delayed puberty, Protuberant abdomen, Short stature, Hepatoc... OMIM:232220
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy, Malabsorption, Protracted diarrhea OMIM:209920
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Postnatal growth retardation, Hepatic failure, Fat malabsorption ORPHA:79303
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Optic nerve hypoplasia, Anal atresi... ORPHA:93932
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Feeding difficulties in infancy, Optic atrophy, Abdominal di... ORPHA:309256
Duane-Radial Ray Syndrome
Aganglionic megacolon, Anal atresia, Facial palsy, Anal stenosis OMIM:607323
Muir-Torre Syndrome
Colonic diverticula, Benign gastrointestinal tract tumors, Duodenal adenocarcinoma, Colon cancer OMIM:158320
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Protuberant abdomen OMIM:613330
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Cleft palate ORPHA:2347
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Fat malabsorption OMIM:214950
Schneckenbecken Dysplasia
Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate OMIM:269250
Megarectum, Postnatal growth retardation, Severe intrauterine growth retardation, Abdominal diste... ORPHA:508
Glycogen Storage Disease Ia
Delayed puberty, Protuberant abdomen, Short stature, Intermittent diarrhea, Growth delay, Hepatoc... OMIM:232200
Smith-Lemli-Opitz Syndrome
Bifid uvula, Gastroesophageal reflux, Microglossia, Vomiting, Poor suck, Intestinal malrotation, ... OMIM:270400
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Growth delay, D... ORPHA:2929
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Protuberant abdomen OMIM:617102
Intussusception OMIM:147710
Goldberg-Shprintzen Syndrome
Aganglionic megacolon OMIM:609460
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Diarrhea, Malnutrition, Postnatal growth retardation, Short stature, Fat malabsorp... ORPHA:96180
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Aganglionic megacolon, Optic disc coloboma ORPHA:959
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Short stature, Macroglossia, Anal at... OMIM:190685
Intrauterine growth retardation, Disproportionate short-trunk short stature, Protuberant abdomen,... OMIM:608022
Neu-Laxova Syndrome 2
Intrauterine growth retardation, High palate, Protuberant abdomen, Cleft palate OMIM:616038
Duodenal Atresia
Duodenal atresia ORPHA:1203
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Aganglionic megacolon, Esophageal atresia, Anal atre... OMIM:229850
Abnormal jejunum morphology ORPHA:449280
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Macroglossia, High palate, Protuberant abdomen OMIM:269921
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Abdominal distention OMIM:271520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Abdominal pain, Colonic stenosis, Acute col... ORPHA:90038
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Rhizomelia, Malabsorption, Disproportionate short-limb short stature ORPHA:175
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception... OMIM:619377
Tarp Syndrome
Optic atrophy, Hepatic failure, Meckel diverticulum, Intrauterine growth retardation, High palate... OMIM:311900
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abdominal distention ORPHA:309263
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, High palate OMIM:209900
Fanconi-Bickel Syndrome
Postnatal growth retardation, Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Episodic abdominal pain, Nausea and vomiting, Abdominal distention ORPHA:370348
Idiopathic Hypereosinophilic Syndrome
Vomiting, Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, C... ORPHA:3260
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Median cleft palate... OMIM:269860
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Feeding difficulties OMIM:618183
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Intrauterine growth reta... ORPHA:84
Gaucher Disease, Type Ii
Feeding difficulties, Gastroesophageal reflux, Dysphagia, Protuberant abdomen OMIM:230900
Smith-Lemli-Opitz Syndrome
Optic atrophy, Rhizomelia, Gastroesophageal reflux, Microglossia, Growth delay, Intrauterine grow... ORPHA:818
Chronic diarrhea, Horner syndrome, Abdominal distention ORPHA:635
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Disproportionate short stature, Abdominal distention ORPHA:93352
Wilson Disease
Hepatic failure, Vomiting, Acute hepatic failure, Decreased nerve conduction velocity, Abdominal ... OMIM:277900
Mucopolysaccharidosis, Type Vii
Severe short stature, Postnatal growth retardation, Protuberant abdomen, Short stature, Macroglossia OMIM:253220
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short-limb short stature, Abdominal distention OMIM:602557
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Constipation, Abdominal distention, Macroglossia, Growth delay OMIM:218700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus OMIM:304790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Intestinal lymphangiectasia, Mild postnatal growth retardation, Narro... OMIM:235510
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Enterocolitis, Delayed puberty, Protuberant abdome... ORPHA:79259
Thanatophoric Dysplasia, Type I
Protuberant abdomen, Disproportionate short-limb short stature, Lethal short-limbed short stature OMIM:187600
22Q11.2 Deletion Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Intestinal malrotation, Anor... ORPHA:567
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal cranial nerve morphology, Jejunal atresia, Feeding dif... ORPHA:989
Hereditary Spherocytosis
Abdominal pain, Growth delay, Abdominal distention ORPHA:822
Fibrochondrogenesis 1
Rhizomelia, Protuberant abdomen, Cleft palate OMIM:228520
Acrofacial Dysostosis 1, Nager Type
Short stature, Aganglionic megacolon, Velopharyngeal insufficiency, Cleft palate OMIM:154400
Matthew-Wood Syndrome
Intrauterine growth retardation, Duodenal stenosis ORPHA:2470
Meckel Syndrome 14
Protuberant abdomen, Abdominal distention OMIM:619879
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Villous atrophy, Colitis, Chronic diarrh... OMIM:614700
Kasabach-Merritt Phenomenon
Abdominal pain, Hepatic hemangioma, Abdominal distention ORPHA:2330
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Intrauterine growth retardation, Gastrostomy tube fe... ORPHA:1708
Schimke Immunoosseous Dysplasia
Intrauterine growth retardation, Disproportionate short-trunk short stature, Growth delay, Protub... OMIM:242900
Intestinal malrotation, Meckel diverticulum ORPHA:1666
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Protuberant abdomen OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Protuberant abdomen OMIM:277440
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Protuberant abdomen, Neonatal short-limb short stature OMIM:151210
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Atelosteogenesis Type Ii
Rhizomelia, Rhizomelic arm shortening, Bilateral cleft palate, Protuberant abdomen, Cleft palate ORPHA:56304
Hurler Syndrome
Short stature, Macroglossia, Protuberant abdomen OMIM:607014
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Protruding tongue, Protuberant abdomen OMIM:200600
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Short stature, Narrow palate, Hamartom... ORPHA:109
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal crania... ORPHA:73263
Tarp Syndrome
Optic atrophy, Intrauterine growth retardation, Abnormal duodenum morphology, Glossoptosis, Tongu... ORPHA:2886
Liver Disease, Severe Congenital
Dependency on parenteral nutrition, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiti... OMIM:619991
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Abdominal distention, Oral-pharyngeal dysphagia, Abnormality of the anus, G... ORPHA:95455
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Protuberant abdomen ORPHA:289157
Schinzel-Giedion Syndrome
Anteriorly placed anus, Gastrostomy tube feeding in infancy, Aganglionic megacolon, Hepatoblastom... ORPHA:798
Arboleda-Tham Syndrome
Optic atrophy, Gastroesophageal reflux, Growth delay, Intestinal malrotation, Intrauterine growth... OMIM:616268
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Mucopolysaccharidosis Type 3
Optic atrophy, Malabsorption, Constipation, Protuberant abdomen, Macroglossia, Intermittent diarr... ORPHA:581
Atelosteogenesis, Type I
Protuberant abdomen, Rhizomelia, Disproportionate short-limb short stature, Cleft palate OMIM:108720
Bardet-Biedl Syndrome
Inflammation of the large intestine, Aganglionic megacolon, Abnormality of the gastrointestinal t... ORPHA:110
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Ectopic anus, Esophageal atresia, Abdominal distention... ORPHA:93271
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Protuberant abdomen, Protruding tongue, Neonatal short-limb short stature ORPHA:50945
X-Linked Acrogigantism
Delayed puberty, Abdominal distention ORPHA:300373
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hepatic failure, Abdominal distention OMIM:617156
Weill-Marchesani Syndrome 2
Proportionate short stature, Protuberant abdomen, High palate, Short stature, Narrow palate OMIM:608328
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Disproportionate short-trunk short stature, Protuberant abdomen ORPHA:239
Mucolipidosis Ii Alpha/Beta
Macroglossia, Severe postnatal growth retardation, Growth delay, Protuberant abdomen OMIM:252500
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Constipation, Cleft palate ORPHA:2953
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Villous atrophy, Abnormal intestine morphology, Enterocolitis, Delayed puberty, Short s... ORPHA:391487
Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:258480
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Aganglionic megacolon, Growth delay, Feeding difficulties ORPHA:2273
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Growth delay, Feeding difficulties, Hepa... ORPHA:731
Syndromic Diarrhea
Intractable diarrhea, Intrauterine growth retardation, Villous atrophy, Hepatoblastoma, Gastritis... ORPHA:84064
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Hepatic failure, Villous atrophy ORPHA:567983
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Growth delay, Secretory diarrhea, Intrauterine growth retard... OMIM:619573
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Villous atrophy, Malabsorption, Anorexia, Steatorrhea, Chronic diarrhea OMIM:557000
Mucolipidosis Type Ii
Short stature, Postnatal growth retardation, Protuberant abdomen, Gastrostomy tube feeding in inf... ORPHA:576
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Tube feeding, Feeding difficulties, Disproportionate short-limb short stature, Protuberant abdomen OMIM:619479
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis ORPHA:90349
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Constipation, Abnormal duodenum morphology, High palate, C... OMIM:601776
Isolated Biliary Atresia
Fat malabsorption, Decreased liver function, Acholic stools ORPHA:30391
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Tracheoesophag... OMIM:265380
Meier-Gorlin Syndrome 7
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Anal atresia, Short stature, High palat... OMIM:617063
Cranioectodermal Dysplasia 1
High, narrow palate, Rhizomelia, Hepatic failure, Protuberant abdomen, High palate OMIM:218330
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Villous atrophy, Bowel irritabilit... OMIM:619381
Atresia Of Urethra
Abdominal distention ORPHA:105
Microphthalmia, Syndromic 1
High, narrow palate, Optic disc coloboma, Aganglionic megacolon, Anal atresia, High palate, Growt... OMIM:309800
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic failure, Intractable diarrhea, Intrauterine growth retardation, Villous atro... OMIM:222470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Intrauterine growth retardation, Gastrostomy tube feeding in infanc... ORPHA:96334
Greenberg Dysplasia
Rhizomelia, Disproportionate short-limb short stature, Severe short-limb dwarfism, Protuberant ab... OMIM:215140
Inflammation of the large intestine, Diarrhea, Vomiting, Ileitis, Enterocolitis, Hematemesis, Ano... ORPHA:707
Autosomal Dominant Cutis Laxa
Vomiting, Small bowel diverticula, Postnatal growth retardation, Intrauterine growth retardation,... ORPHA:90348
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intrauterine growth retardation, Microcolon, Intestinal malrotation OMIM:600001
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Disproportionate short-limb short stature, Mild short stature, Protuberant abdomen OMIM:618019
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Short stature, Aganglionic megacolon, Growth delay, Cleft palate OMIM:308205
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Growth delay, Aganglionic megacol... ORPHA:2152
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Cleft palate OMIM:219000
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Chronic constipation, Protuberant abdomen, Short stature, Macroglossia, Growth delay OMIM:256040
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Gastroesophageal reflux, Esophageal varix, Abdominal distention OMIM:619534
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Constipation, Cleft palate ORPHA:264450
Shwachman-Diamond Syndrome
Growth delay, Malnutrition, Abnormality of the gastrointestinal tract, Short stature, Steatorrhea... ORPHA:811
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Aganglionic megacolon, Constipation, Episod... ORPHA:261537
Abdominal distention ORPHA:3003
Multicystic Dysplastic Kidney
Abdominal distention ORPHA:1851
Sotos Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Feeding difficulties, Constipation ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Submucous cleft of soft and hard palate, Optic atrophy, Aganglionic megacolon, Const... ORPHA:261552
Thrombocytopenia-Absent Radius Syndrome
Short stature, Meckel diverticulum, Cleft palate OMIM:274000
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Intrauterine growth retardation, Severe post... OMIM:194190
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Anal atresia, Dysphagia, Feedi... OMIM:606170
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Restrictive Dermopathy
Intrauterine growth retardation, Microcolon, Submucous cleft hard palate ORPHA:1662
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Intestinal malrotation, Hep... OMIM:312870


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 Tlx2

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 Tlx2.

No publications found that use IMPC mice or data for Tlx2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tlx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tlx2tm278603(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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