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Gene: Tlx2 MGI:1350935

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

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 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
phenotypes		 Matching phenotypes Source
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
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
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation, Short-segment aganglionic megacolon OMIM:619465
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... OMIM:613662
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
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Growth delay, Steatorr... ORPHA:75233
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis OMIM:600501
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation ORPHA:95713
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m... ORPHA:897
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Thyroid Hemiagenesis
Growth delay, Macroglossia, Constipation, Abdominal distention ORPHA:95719
L1 Syndrome
Nausea and vomiting, Aganglionic megacolon ORPHA:275543
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Small intes... ORPHA:298
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Malignant Peritoneal Mesothelioma
Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Dermotrichic Syndrome
Aganglionic megacolon, Proportionate short stature ORPHA:99688
Feingold Syndrome Type 2
Jejunal atresia, Short stature ORPHA:391646
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Cleft pala... OMIM:270420
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Pancreatic Colipase Deficiency
Growth delay, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Hepatocellular carcinoma, Abdominal distention, Growth delay, Delayed puberty ORPHA:369
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, I... OMIM:608104
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Piebald Trait
Aganglionic megacolon OMIM:172800
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Short stature ORPHA:52503
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... ORPHA:2070
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty OMIM:618985
Nephrotic Syndrome, Type 1
Growth delay, Pyloric stenosis, Gastroesophageal reflux, Abdominal distention OMIM:256300
Goldberg-Shprintzen Megacolon Syndrome
Short stature, Aganglionic megacolon, Cleft palate ORPHA:66629
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon ORPHA:1438
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon ORPHA:261222
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Growth delay, Intrauterine growth re... ORPHA:85284
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption ORPHA:452
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Short stature, Abdominal distention, Disproportionate short-trunk short sta... OMIM:277300
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... ORPHA:100924
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Celiac Disease, Susceptibility To, 1
Short stature, Abdominal pain, Celiac disease, Postnatal growth retardation, Abdominal distention... OMIM:212750
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Thyroid Hypoplasia
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation ORPHA:95720
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... ORPHA:79327
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Neoplasm of the liver, Vomiting, Nausea ORPHA:90003
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Cleft palate ORPHA:2604
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
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Short stature, Diarrhea, Hepatocellular carcinoma OMIM:601847
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab... ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure OMIM:602579
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... ORPHA:436252
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Ileus, Vomiting, Constipation OMIM:300352
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Cleft palate, Growth delay, Anal atresia OMIM:614749
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Alg6-Cdg
Macroglossia, Protein-losing enteropathy, Feeding difficulties ORPHA:79320
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Gastroesophageal reflux, Abdominal distention, Feeding difficulties OMIM:620275
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate OMIM:613885
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... OMIM:250250
Refractory Celiac Disease
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en... ORPHA:398063
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Severe short stature OMIM:619345
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Perianal abscess, Gastrointestinal obstruction, Abdominal dist... OMIM:176450
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Colitis, Steatorrhea ORPHA:309031
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Postnatal growth retardation, Pyloric stenosis, Feeding difficulties OMIM:617219
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intrau... OMIM:601346
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Intrauterine growth retard... OMIM:614602
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High palate OMIM:162300
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Feeding difficulties in infancy, Secretory diarrhea, Enterocoliti... OMIM:616050
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Duodenal Atresia
Duodenal atresia OMIM:223400
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Feeding difficulti... OMIM:174300
Piebaldism
Aganglionic megacolon ORPHA:2884
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Abdominal distention, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Folinic Acid-Responsive Seizures
Abdominal distention, Optic atrophy ORPHA:79097
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abdominal distention, High palate, Protein-losing enteropathy, Hepa... ORPHA:1655
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... OMIM:209880
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate, Feeding difficulties ORPHA:220497
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Optic... ORPHA:847
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Short stature, Aganglionic megacolon, Cleft palate OMIM:614207
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption ORPHA:935
Mednik Syndrome
Jejunal atresia, Diarrhea, Growth delay, Volvulus, Microcolon OMIM:609313
Achondrogenesis, Type Ib
Abdominal distention, Neonatal short-limb short stature OMIM:600972
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Short stature, Diarrhea OMIM:211600
Fanconi-Bickel Syndrome
Postnatal growth retardation, Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Hepatic failure OMIM:235255
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... ORPHA:85443
Ramos-Arroyo Syndrome
Severe short stature, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic... ORPHA:1051
Waardenburg Syndrome Type 1
Aganglionic megacolon, Cleft palate ORPHA:894
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Schimke Immuno-Osseous Dysplasia
Short stature, Abdominal distention, Disproportionate short-trunk short stature, Growth delay, Ab... ORPHA:1830
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... ORPHA:2059
Achondrogenesis Type 1A
Abdominal distention, Severe short stature ORPHA:93299
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Disproportionate short-limb short stature, Cleft palate ORPHA:85166
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp, Protuberant abdomen ORPHA:457485
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Primary Biliary Cholangitis
Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep... ORPHA:186
Joubert Syndrome
Feeding difficulties in infancy, Aganglionic megacolon ORPHA:475
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Microcolon, Ileal atresia OMIM:619351
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th... ORPHA:653
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Severe short stature, Disproportionate short-limb short stature, Cleft palate OMIM:184250
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate, Feeding difficulties ORPHA:220493
Ovarian Fibroma
Abdominal distention, Abdominal pain ORPHA:314473
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... OMIM:278000
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, Growth delay, High palate, Bifid uvula, Gastrostom... ORPHA:247262
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula ORPHA:2919
Fraser Syndrome 2
Abdominal distention, Rectal atresia, Intestinal malrotation, Anal atresia OMIM:617666
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palate, Rectal prolapse,... ORPHA:79076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Serkal Syndrome
Growth delay, Malrotation of small bowel ORPHA:139466
Toriello-Carey Syndrome
Aganglionic megacolon, Short stature, Postnatal growth retardation, Feeding difficulties in infan... ORPHA:3338
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... ORPHA:160
Lead Poisoning
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Constipation, Abdominal cramps, Delayed... ORPHA:330015
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Chronic diarrhea, Growth delay, Vomiting, Tube feeding OMIM:619510
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Short stature, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Toriello-Lacassie-Droste Syndrome
Growth delay, Aganglionic megacolon, Feeding difficulties ORPHA:3339
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Anal atresia ORPHA:870
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Postnatal growth retardation, Feeding difficulties, Growth ... ORPHA:2896
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... OMIM:603041
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Nausea ORPHA:100086
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:93552
Trichothiodystrophy 3, Photosensitive
Short stature, Pyloric stenosis, Feeding difficulties, Intrauterine growth retardation, Meckel di... OMIM:616395
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Thyroid Ectopia
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation ORPHA:95712
Fanconi-Bickel Syndrome
Growth delay, Abdominal distention, Hepatic failure, Hepatocellular carcinoma ORPHA:2088
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula OMIM:601110
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure ORPHA:79302
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the liver, Nausea ORPHA:100085
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation, Aganglionic megacolon OMIM:613603
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Neo... ORPHA:309271
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Waardenburg Syndrome, Type 4C
Aganglionic megacolon OMIM:613266
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Fat malabsorption, Hepatic failure, Steatorrhea ORPHA:79303
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption, Hepatic failure OMIM:214950
Donohue Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Abdominal distention OMIM:246200
Ovarian Fibrothecoma
Abdominal distention, Abdominal pain ORPHA:314478
Niemann-Pick Disease, Type A
Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen OMIM:257200
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Diarrhea, Malnutrition, Optic atrophy, Fat malabsorp... ORPHA:96180
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia ORPHA:158684
Immunodeficiency 31C
Villous atrophy, Short stature, Diarrhea, Gastrointestinal eosinophilia, Growth delay, Protein-lo... OMIM:614162
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Neoplasm of... ORPHA:512
Achondrogenesis, Type Ii
Protuberant abdomen, Disproportionate short-trunk short stature, Disproportionate short-limb shor... OMIM:200610
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Constipation, Vomiting, Chronic hep... ORPHA:469
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Protracted diarrhea, Malabsorption OMIM:209920
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea ORPHA:391673
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Short stature OMIM:619423
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting OMIM:620233
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:521219
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... OMIM:115470
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Short stature, Reye syndrome-like episodes, Abdominal distention, Diarrhea... OMIM:256810
Glycogen Storage Disease Ib
Short stature, Hepatocellular carcinoma, Inflammation of the large intestine, Protuberant abdomen... OMIM:232220
Muir-Torre Syndrome
Colonic diverticula, Benign gastrointestinal tract tumors, Duodenal adenocarcinoma, Colon cancer OMIM:158320
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:64739
Fg Syndrome Type 1
Short stature, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon,... ORPHA:93932
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Severe short-limb dwarfism, Cleft palate, Mesomelic/rhizomelic limb shortening ORPHA:2347
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Anal atresia OMIM:607323
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Protuberant abdomen OMIM:613330
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction velocity, Optic... ORPHA:309256
Wilson Disease
Acute hepatic failure, Hepatocellular carcinoma, Decreased nerve conduction velocity, Abdominal d... OMIM:277900
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy, Short stature OMIM:618440
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Glycogen Storage Disease Ia
Short stature, Hepatocellular carcinoma, Growth delay, Protuberant abdomen, Delayed puberty, Inte... OMIM:232200
Leprechaunism
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Megarectum, Severe intrauter... ORPHA:508
Schneckenbecken Dysplasia
Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate OMIM:269250
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Short stature, Pyloric stenosis, Gastrointestinal ... OMIM:270400
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Optic disc coloboma, Aganglionic megacolon ORPHA:959
Down Syndrome
Aganglionic megacolon, Short stature, Protruding tongue, Duodenal stenosis, Macroglossia, Anal at... OMIM:190685
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Protuberant abdomen OMIM:617102
Goldberg-Shprintzen Syndrome
Aganglionic megacolon OMIM:609460
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Protuberant abdomen, High palate, Cleft palate OMIM:616038
Idiopathic Hypereosinophilic Syndrome
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... ORPHA:3260
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... OMIM:229850
Diaphanospondylodysostosis
Intrauterine growth retardation, Protuberant abdomen, Disproportionate short-trunk short stature,... OMIM:608022
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Sialuria
Macroglossia, High palate, Protuberant abdomen OMIM:269921
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain ORPHA:370348
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Cartilage-Hair Hypoplasia
Rhizomelia, Aganglionic megacolon, Disproportionate short-limb short stature, Malabsorption ORPHA:175
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Duodenal Atresia
Duodenal atresia ORPHA:1203
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Bloody diarr... ORPHA:90038
Intussusception
Intussusception OMIM:147710
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Tarp Syndrome
Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Intraute... OMIM:311900
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy ORPHA:309263
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Bardet-Biedl Syndrome 1
Aganglionic megacolon, High, narrow palate, High palate OMIM:209900
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Protuberant abdomen, Intrauterine ... OMIM:269860
Fanconi Anemia
Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula,... ORPHA:84
Gaucher Disease, Type Ii
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia OMIM:230900
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Feeding difficulties OMIM:618183
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short stature, Rhizomelia, Feeding difficulties in infancy, Pyloric stenos... ORPHA:818
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Villous atrophy, Ileus OMIM:304790
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Disproportionate short stature, Severe short stature ORPHA:93352
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Growth delay, Macroglossia, Constipation OMIM:218700
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Postnatal growth retardation, Macroglossia, Protuberant abdomen OMIM:253220
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Disproportionate short-limb short stature OMIM:602557
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Narrow palate, Protein-losing enteropathy, In... OMIM:235510
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Short stature, Bowel ... ORPHA:567
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Growth delay,... ORPHA:79259
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Disproportionate short-limb short stature, Protuberant abdomen OMIM:187600
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Feeding difficulties in infancy, Cleft palate,... ORPHA:989
Hereditary Spherocytosis
Growth delay, Abdominal distention, Abdominal pain ORPHA:822
Fibrochondrogenesis 1
Protuberant abdomen, Rhizomelia, Cleft palate OMIM:228520
Matthew-Wood Syndrome
Intrauterine growth retardation, Duodenal stenosis ORPHA:2470
Mowat-Wilson Syndrome
Short stature, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submucous cleft har... OMIM:235730
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Short stature, Aganglionic megacolon, Cleft palate OMIM:154400
Meckel Syndrome 14
Abdominal distention, Protuberant abdomen OMIM:619879
Kasabach-Merritt Syndrome
Abdominal distention, Hepatic hemangioma, Abdominal pain ORPHA:2330
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Anteriorly placed... ORPHA:1708
Mucopolysaccharidosis Type 3
Malabsorption, Optic atrophy, Macroglossia, Constipation, Protuberant abdomen, Dysphagia, Intermi... ORPHA:581
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... OMIM:614700
Dextrocardia
Meckel diverticulum, Intestinal malrotation ORPHA:1666
Schimke Immunoosseous Dysplasia
Growth delay, Intrauterine growth retardation, Disproportionate short-trunk short stature, Protub... OMIM:242900
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
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen OMIM:151210
Hypocalcemic Vitamin D-Dependent Rickets
Postnatal growth retardation, Short stature, Protuberant abdomen ORPHA:289157
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Protuberant abdomen, Protruding tongue OMIM:200600
Hurler Syndrome
Macroglossia, Short stature, Protuberant abdomen OMIM:607014
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Narrow palate, Hamartom... ORPHA:109
Atelosteogenesis Type Ii
Bilateral cleft palate, Rhizomelia, Cleft palate, Rhizomelic arm shortening, Protuberant abdomen ORPHA:56304
Tarp Syndrome
Optic atrophy, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth reta... ORPHA:2886
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Liver Disease, Severe Congenital
Chronic gastritis, Abdominal distention, Diarrhea, Malnutrition, Dependency on parenteral nutriti... OMIM:619991
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Hem... ORPHA:73263
Arboleda-Tham Syndrome
Intestinal malrotation, Optic atrophy, Cleft palate, Feeding difficulties, Growth delay, Gastroes... OMIM:616268
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... ORPHA:95455
Schinzel-Giedion Syndrome
Aganglionic megacolon, Anteriorly placed anus, Macroglossia, High palate, Dysphagia, Hepatoblasto... ORPHA:798
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Atelosteogenesis, Type I
Protuberant abdomen, Rhizomelia, Disproportionate short-limb short stature, Cleft palate OMIM:108720
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Abdominal distention, Ectopic anus, Disproportionate short-limb short stature... ORPHA:93271
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen, Protruding tongue ORPHA:50945
X-Linked Acrogigantism
Abdominal distention, Delayed puberty ORPHA:300373
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hepatic failure, Abdominal distention OMIM:617156
Weill-Marchesani Syndrome 2
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen OMIM:608328
Isolated Biliary Atresia
Acholic stools, Fat malabsorption, Decreased liver function ORPHA:30391
Musculocontractural Ehlers-Danlos Syndrome
Constipation, Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Protuberant abdomen, Disproportionate short-trunk short stature ORPHA:239
Opsismodysplasia
Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:258480
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Enterocolitis, Growth delay, Abno... ORPHA:391487
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Feeding difficulties, Growth d... ORPHA:731
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Growth delay, Severe short stature, Aganglionic megacolon, Feeding difficulties ORPHA:2273
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Hepatic failure OMIM:557000
Mucolipidosis Ii Alpha/Beta
Growth delay, Macroglossia, Severe postnatal growth retardation, Protuberant abdomen OMIM:252500
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Bloody diarrhea, Colitis, Hepatoblastoma, Intrauterine... ORPHA:84064
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Hepatic failure, Abdominal pain ORPHA:567983
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Feeding difficulties, Disproportionate short-limb short stature, Protuberant abdomen, Tube feeding OMIM:619479
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Protuberant abdomen, Gastrostomy tube feeding in inf... ORPHA:576
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... OMIM:265380
Meier-Gorlin Syndrome 7
Anal stenosis, Short stature, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Growth del... OMIM:617063
Cranioectodermal Dysplasia 1
Rhizomelia, High, narrow palate, High palate, Protuberant abdomen, Hepatic failure OMIM:218330
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Short stature, Malnutrition, Growth delay, Steatorrhea... ORPHA:811
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... OMIM:619381
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Constipation, Abnormal duodenum... OMIM:601776
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Optic disc colobom... OMIM:309800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Growth delay, Short stature, Aganglionic megacolon, Cleft palate OMIM:308205
Abetalipoproteinemia
Fat malabsorption, Chronic diarrhea, Vomiting, Steatorrhea ORPHA:14
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula ORPHA:90349
Trichohepatoenteric Syndrome 1
Villous atrophy, Short stature, Intractable diarrhea, Intrauterine growth retardation, Hepatic fa... OMIM:222470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Postnatal growth retardation, Feeding difficulties, Growth delay, Macroglossia, Pr... ORPHA:96334
Greenberg Dysplasia
Severe short-limb dwarfism, Rhizomelia, Disproportionate short-limb short stature, Protuberant ab... OMIM:215140
Atresia Of Urethra
Abdominal distention ORPHA:105
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Feeding difficulties, Vomiting, Small bowel diverticula, Intrauteri... ORPHA:90348
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intestinal malrotation, Microcolon, Intrauterine growth retardation OMIM:600001
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Mild short stature, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:618019
Mowat-Wilson Syndrome
Aganglionic megacolon, Short stature, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Ga... ORPHA:2152
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Esophageal varix, Abdominal distention, Short stature OMIM:619534
Proteasome-Associated Autoinflammatory Syndrome 1
Short stature, Growth delay, Macroglossia, Chronic constipation, Protuberant abdomen, Parotitis OMIM:256040
Trisomy 8P
Malrotation of small bowel, Constipation, Bifid uvula, Cleft palate ORPHA:264450
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Short stature, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cl... ORPHA:261537
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Short stature, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Op... ORPHA:261552
Sotos Syndrome
Gastroesophageal reflux, Constipation, Aganglionic megacolon, Feeding difficulties ORPHA:821
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Short stature, Cleft palate OMIM:274000
Wolf-Hirschhorn Syndrome
Short stature, Malrotation of small bowel, Cleft palate, Growth delay, Severe postnatal growth re... OMIM:194190
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Feeding difficulties, Anteriorly placed anus, Dysphagi... OMIM:606170
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Restrictive Dermopathy
Intrauterine growth retardation, Submucous cleft hard palate, Microcolon ORPHA:1662
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... OMIM:312870

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 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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