Not currently registered for phenotyping at IMPC

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

Gene Summary

SEC23 homolog B, COPII coat complex component

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 Sec23b mutations

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

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

The table below shows human diseases associated to Sec23b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sec23b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia OMIM:601820
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... OMIM:615710
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Type I diabetes mellitus, Recurrent upper respiratory tract infecti... OMIM:615952
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hep... OMIM:612714
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic... ORPHA:314652
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... OMIM:615935
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Exocrine pancreatic insufficiency OMIM:618752
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Abnormal pancreas morphology, Abnormal upper lip morpholo... ORPHA:2849
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Cryptorchidism, Death in infancy, Aganglionic megacolon, Hypoh... ORPHA:452
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... ORPHA:2315
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Nasal polyposis,... ORPHA:2869
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis, Anorexia ORPHA:313906
Shwachman-Diamond Syndrome 2
Diarrhea, Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hyperechogenic... OMIM:617941
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis OMIM:211400
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Acholic stools, Jau... ORPHA:65682
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Polydipsia, Abnormality of endocrine pancreas physiology, Abnormality of exocri... ORPHA:93111
Rauch-Steindl Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Exocrine pancreatic insufficiency, Chro... OMIM:619695
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Adrenal insufficiency, Hepatic steatosis, Death in infancy, Pancreatitis, Anorexia OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Hypoglycemia, Pancreatitis OMIM:620137
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Thin upper lip vermilion, Hyperechogenic pancreas, Abnormal li... ORPHA:456312
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Choanal atresia, Depressed nasal bridge, Pancreatic hypoplasia, Long philtrum, ... OMIM:610199
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... OMIM:616263
Benign Schwannoma
Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, A... ORPHA:252164
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... ORPHA:2470
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Nasal polyposis, Bile duct polyp, Bloody diarrhe... OMIM:175200
Deeah Syndrome
Narrow mouth, Cryptorchidism, Decreased circulating free T3, Chronic constipation, Death in child... OMIM:619004
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Type I diabetes mellitus, Long philtrum, Exocrine pancreatic insufficienc... OMIM:618500
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Death in ... OMIM:557000
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... ORPHA:103918
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... ORPHA:1666
Cystic Fibrosis
Nasal polyposis, Biliary cirrhosis, Bronchiectasis, Recurrent pneumonia, Diarrhea, Exocrine pancr... OMIM:219700
Feingold Syndrome
Depressed nasal bridge, Annular pancreas, Abnormality of the spleen, Anteverted nares, Orofacial ... ORPHA:1305
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Death in infancy, Convex nasal ridge, Diabete... OMIM:609069
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary adrenal ... OMIM:269200
Bone Marrow Failure Syndrome 3
Downturned corners of mouth, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Cryptorchi... OMIM:617052
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate, Nasal polyposis OMIM:155145
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia OMIM:260450
Trichohepatoneurodevelopmental Syndrome
Recurrent otitis media, Hepatomegaly, High palate, Patent ductus arteriosus, Cholelithiasis, Gast... OMIM:618268
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... ORPHA:31202
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Wide nasal bridge, Depressed nasal bridge, Vomiting,... OMIM:619418
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Oral ulcer, Pancreatitis, ... OMIM:232220
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Orofaciodigital Syndrome Type 1
Open bite, High palate, Chronic otitis media, Accessory oral frenulum, Choanal atresia, Hamartoma... ORPHA:2750
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Shwachman-Diamond Syndrome
Pneumonia, Carious teeth, Delayed eruption of teeth, Pancreatic hypoplasia, Eczematoid dermatitis... ORPHA:811
Lipoid Proteinosis
Abnormal oral mucosa morphology, Acne, Nasal polyposis, Microglossia, Thick lower lip vermilion, ... ORPHA:530
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Abnormality of ... ORPHA:85443
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Anorexia ORPHA:79312
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Cach Syndrome
Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia ORPHA:135
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Liver abscess, Cholecystitis, Sclero... ORPHA:69663
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Pancreatitis, Hepatic steatosis OMIM:618805
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... OMIM:155310
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of tee... ORPHA:2348
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Sple... OMIM:618935
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Renal Cysts And Diabetes Syndrome
Glycosuria, Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,... ORPHA:2255
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys... ORPHA:79083
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficie... ORPHA:699
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatom... ORPHA:435651
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Downturned corne... ORPHA:99885
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... ORPHA:779
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Absent gallbladd... ORPHA:556955
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Type II diabetes mellitus, Iridocyclitis, Pancreatitis, Hypothyroidism,... ORPHA:412057
Cystic Fibrosis
Nasal polyposis, Gastroesophageal reflux, Bronchiectasis, Meconium ileus, Exocrine pancreatic ins... ORPHA:586
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:145981
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death OMIM:612138
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Pancreatitis, Dental crowding, Hepatic steatosis OMIM:236200
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancreatitis, Agita... OMIM:610475
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency OMIM:260400
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... ORPHA:1667
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Exocrine pancreatic insufficiency, Glucose intolerance, Narrow mouth, Cirrhosis OMIM:616539
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... ORPHA:3032
Congenital Syphilis
Pneumonia, Uveitis, Diarrhea, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Rhinitis, M... ORPHA:499009
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... ORPHA:733
Maple Syrup Urine Disease, Type Ia
Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
Microscopic Polyangiitis
Epistaxis, Gastrointestinal hemorrhage, Uveitis, Diarrhea, Gastrointestinal infarctions, Episcler... ORPHA:727
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Dysphagia ORPHA:449427
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... ORPHA:2494
Schimke Immuno-Osseous Dysplasia
Depressed nasal bridge, Minimal change glomerulonephritis, Broad nasal tip, Abnormality of thyroi... ORPHA:1830
Propionic Acidemia
Vomiting, Eczematoid dermatitis, Hypoglycemia, Constipation, Pancreatitis, Hepatomegaly OMIM:606054
Citrullinemia Type Ii
Hepatic fibrosis, Diarrhea, Vomiting, Abnormal eating behavior, Hepatic steatosis, Aggressive beh... ORPHA:247585
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Steatorrhea, Colitis ORPHA:309031
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... ORPHA:252183
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage... ORPHA:73263
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Glycosuria, Intestinal malrotation, Hypergl... OMIM:600001
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambiguus, Chronic sinusitis... OMIM:617092
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Mehmo Syndrome
Cleft lip, Broad nasal tip, Long philtrum, Widely spaced teeth, Decreased response to growth horm... OMIM:300148
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Dysphagia, Melena, Nausea, Maculopapu... ORPHA:319218
Igg4-Related Ophthalmic Disease
Keratitis, Retroperitoneal fibrosis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the ante... ORPHA:449563
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Depressed nasal bridge, Exocrine pancreatic insufficiency, De... OMIM:620005
Legionnaires Disease
Diarrhea, Hepatitis, Anorexia, Splenomegaly, Infectious encephalitis, Pancreatitis, Recurrent pha... ORPHA:549
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Anorexia, Endocardit... ORPHA:2552
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Cholelithiasis, Pancreatic hypoplasia, Underdeveloped nasal alae, Eczematoid d... ORPHA:83617
Darier-White Disease
Enlargement of parotid gland OMIM:124200
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Hypoglycemia, Pancreatitis, Hepatomegaly, Tubulointerstitial nephritis OMIM:251000
Primary Ciliary Dyskinesia
Nasal polyposis, Bronchiectasis, Polysplenia, Nasal congestion, Intestinal malrotation, Recurrent... ORPHA:244
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Colonic stenosis... ORPHA:90038
Campomelia, Cumming Type
Death in infancy, Abnormal intestine morphology, Hepatomegaly, Pancreatic cysts, Cleft palate, Ab... ORPHA:1318
Mirizzi Syndrome
Cholelithiasis, Vomiting, Anorexia, Nausea, Pancreatitis, Abnormal ductus choledochus morphology,... ORPHA:521219
Mccune-Albright Syndrome
Gastroesophageal reflux, Dental malocclusion, Hepatitis, Increased circulating prolactin concentr... ORPHA:562
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:600740
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Cryptorchidism, Neonatal death, Cleft... OMIM:615524
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Diarrhea, Hepatic steatosis, O... ORPHA:79259
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology ORPHA:1190
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... ORPHA:144
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Cryptorchidism, Ps... ORPHA:116
Familial Mediterranean Fever
Diarrhea, Oral leukoplakia, Erysipelas, Gastrointestinal infarctions, Splenomegaly, Intestinal ob... ORPHA:342
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Cholestasis, Exocrine pancreatic i... OMIM:300972
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... ORPHA:480520
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Glycogen Storage Disease Ia
Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Intermittent diarrhea, Hepa... OMIM:232200
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Vomiting, Hypoglycemia, Hepatic periportal necrosis, Dysphagia, Hepatomeg... ORPHA:26791
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... OMIM:619991
Peripheral Primitive Neuroectodermal Tumor
Pancreatitis, Anorexia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:370348
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Tracheoesophageal fistula, Pancreatitis, Conjunctivitis,... ORPHA:537
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn... ORPHA:449395
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Splenomegaly, Iridocyclitis, Arthr... OMIM:181000
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... ORPHA:79086
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphology OMIM:606528
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Polydipsia, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Constipatio... ORPHA:99880
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Cleft upper lip, Supernumerar... OMIM:605039
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism, Abnormal palate morphology ORPHA:2022
Systemic Capillary Leak Syndrome
Myocarditis, Diarrhea, Pancreatitis, Pericarditis ORPHA:188
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Perianal abscess, Recurrent pancreatit... ORPHA:444490
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... ORPHA:171
Acute Lung Injury
Pneumonia, Addictive alcohol use, Acute pancreatitis ORPHA:178320
Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Parathyroid Carcinoma
Peptic ulcer, Polydipsia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... ORPHA:143
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Constipation, High palate, Patent duc... OMIM:618162
Feingold Syndrome 1
Accessory spleen, Wide nasal bridge, Annular pancreas, Polysplenia, Depressed nasal tip, Antevert... OMIM:164280
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma OMIM:145980
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Pancreatitis, Conjunctivitis, Dysphagia, Esophageal stricture ORPHA:36426
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Gastroesophageal reflux, Skin rash, Intestinal obstruction, Increased inflammato... ORPHA:183
Blau Syndrome
Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Splenomegaly, Skin rash, Syno... ORPHA:90340
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of tee... ORPHA:280365
Distal Deletion 12Q
Obsessive-compulsive trait, Patent ductus arteriosus, Duodenal atresia, High, narrow palate, Annu... ORPHA:96149
Neonatal Hemochromatosis
Hypoglycemia, Prominent nose, Anteverted nares, Congenital hepatic fibrosis, Prolonged neonatal j... ORPHA:446
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Choanal atresia, Anosmia, A... ORPHA:2363
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Granulomatosis With Polyangiitis
Epistaxis, Gastrointestinal hemorrhage, Abnormality of the nose, Otitis media, Intestinal obstruc... ORPHA:900
Glycogen Storage Disease Iii
Hepatic fibrosis, Depressed nasal bridge, Broad nasal tip, Hypoglycemia, Thin upper lip vermilion... OMIM:232400
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Pauci-Immune Glomerulonephritis
Arteritis, Oral ulcer, Scleritis, Abnormality of the gastrointestinal tract, Pancreatitis, Glomer... ORPHA:93126
Behçet Disease
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Splenomegaly, Oral ulcer, Orchitis, I... ORPHA:117
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Wide nasal bridge, Gastrointestinal hemorrhage, Gastroesophageal ref... ORPHA:508488
Johanson-Blizzard Syndrome
Cryptorchidism, Death in childhood, Hepatomegaly, Anal atresia, Rectovaginal fistula, Intrahepati... OMIM:243800
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gl... OMIM:154500
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis OMIM:615518
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Wide nasal bridge, Long philtrum, Exocrine pancreatic insufficiency, Thin upper lip vermilion, Mo... ORPHA:508498
Alagille Syndrome 1
Depressed nasal bridge, Cholestasis, Exocrine pancreatic insufficiency, Bulbous nose, Reduced num... OMIM:118450
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Hypoglycemia, ... OMIM:232240
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Choanal atresia, Carious teeth, Xerostomia, Broad nasal tip, Selective tooth agenesis, Cleft uppe... OMIM:129900
Kikuchi-Fujimoto Disease
Malar rash, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Skin rash, Pustule, Myocardit... ORPHA:50918
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper ... OMIM:604292
Type I diabetes mellitus, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Type II diabetes mel... ORPHA:550
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Nasal congestion OMIM:616037
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Long philtrum, Cryptorchidism, Hepatomegaly, Dysphagia OMIM:618958
Jacobsen Syndrome
Wide nasal bridge, Annular pancreas, Broad columella, Long philtrum, Eczematoid dermatitis, Intes... ORPHA:2308
Ciliary Dyskinesia, Primary, 1
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Aspleni... OMIM:244400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Pancreatic fibrosis OMIM:615503
Ciliary Dyskinesia, Primary, 22
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Exocrine pancreatic insufficiency, Splenomegaly, Primary hypothyroidism, ... OMIM:219800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Cholestasis, Decreased circulating... OMIM:608104
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Rec... OMIM:147060
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Choanal atresia, Cleft lip, Annular pancreas, Gastroesophageal reflux, Fur... OMIM:616975
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Wide nasal bridge, Hepatic sinusoidal dilatation, Bulbous nose, Anteverted nares, Tented upper li... OMIM:620371
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Nonketotic hypoglycemia, Epi... ORPHA:20
Fryns Syndrome
Wide nasal bridge, Ectopic pancreatic tissue, Meckel diverticulum, Long philtrum, Cleft upper lip... OMIM:229850
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Vomiting, Hepatospl... ORPHA:3260
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infestation, Decreased response to gr... OMIM:615577
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper l... OMIM:263520
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Pancreatitis ORPHA:405
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Gingival fibrom... ORPHA:2591
Mhc Class I Deficiency 1
Nasal polyposis OMIM:604571
Perlman Syndrome
Wide nasal bridge, Distal ileal atresia, Depressed nasal bridge, Volvulus, Everted upper lip verm... OMIM:267000
Jacobsen Syndrome
Depressed nasal bridge, Annular pancreas, Anteverted nares, Cryptorchidism, U-Shaped upper lip ve... OMIM:147791
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Self-mutilation, Ch... OMIM:619487
Nephronophthisis 13
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:614377
Marburg Hemorrhagic Fever
Uveitis, Diarrhea, Vomiting, Hypoglycemia, Bloody diarrhea, Skin rash, Orchitis, Aggressive behav... ORPHA:99826
Ciliary Dyskinesia, Primary, 5
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:608647
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Pyloric stenosis ORPHA:664
Fetal Gaucher Disease
Depressed nasal bridge, Abnormality of the spleen, Anteverted nares, Splenomegaly, Death in infan... ORPHA:85212
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Agen... OMIM:268400
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypohidrosis, Attention deficit... ORPHA:281090
Acute pancreatitis, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus ORPHA:412
Glycerol Kinase Deficiency
Vomiting, Downturned corners of mouth, Hypoglycemia, Adrenal insufficiency, Chronic pancreatitis,... OMIM:307030
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism OMIM:619471
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Polyph... OMIM:608594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Glucose intolerance, Narrow mou... OMIM:606721
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hepatic amyloidosis, Decreased response to growth hormone stimulation test, H... ORPHA:470
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Erythema nodosum, Anorexia, Hepatomegaly, Jaundic... ORPHA:99827
Fanconi Anemia, Complementation Group O
Cryptorchidism, Death in infancy, Neonatal death, Rectal atresia, Anal atresia, Miscarriage OMIM:613390
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa... ORPHA:264450
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Death in infancy, Bile duct proliferation, Pancreatic fibrosis, Jaun... OMIM:208500
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Annular pancreas, Downturned corners of mouth, Cleft palate ORPHA:488642
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,... OMIM:269700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Type I diabetes mellitus, Inflammation of the large intestine, Rec... ORPHA:436159
Bronchiectasis, Parotitis, Enlargement of parotid gland, Portal hypertension, Maculopapular exant... ORPHA:797
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Skin rash, Nausea, Hematemesis, Jaundice, Acute pancr... ORPHA:99829
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Death in childhood, Death in infan... OMIM:609313
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:565612
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... ORPHA:228123
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis OMIM:238600
Meckel Syndrome, Type 7
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Bile duct proliferation,... OMIM:267010
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Intellectual Developmental Disorder, X-Linked 112
Gastroesophageal reflux, Volvulus, Pyelonephritis, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:301111
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Attention deficit hyperactivity disorder, Tracheoesophageal fis... OMIM:227646
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Cleft lip, Annular pancreas, Vomiting,... ORPHA:97297
1P36 Deletion Syndrome
Abnormality of the spleen, Narrow mouth, Cryptorchidism, Hepatic steatosis, Abnormal intestine mo... ORPHA:1606
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Macroglossia, Neonatal hypo... OMIM:130650
Meckel Syndrome
Accessory spleen, Depressed nasal ridge, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Crypt... ORPHA:564
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Death in childhood, Death in infancy, Neonatal death, Death in adol... OMIM:202400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Eczematoid dermatitis... OMIM:616100
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac... OMIM:131100
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Long philtrum, Supernumerary nipple, Hypoglycemia, Submucous cleft hard... ORPHA:457279
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst, Hepatomegaly, Diabetes mellitus ORPHA:98908
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... OMIM:619859
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Intestina... OMIM:265380
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Splenomegaly, Pancreatitis, Hepatomegaly, Nausea OMIM:222700
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Immunodeficiency 59 And Hypoglycemia
Wide nasal bridge, Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Hypogly... OMIM:233600
Orofaciodigital Syndrome I
Wide nasal bridge, Hepatic fibrosis, Carious teeth, Cleft upper lip, Underdeveloped nasal alae, H... OMIM:311200
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Type I diabetes mellitus, Cholelithiasis, Diarrhea, Chronic mucocutaneous can... OMIM:240300
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenal hyperplasia, Hypoglycemia OMIM:201910
Pancreatic calcification, Jaundice, Vomiting, Diarrhea ORPHA:677
Boomerang Dysplasia
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death OMIM:112310
Mednik Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:171851
Schinzel-Giedion Syndrome
Recurrent pneumonia, Broad nasal tip, Annular pancreas, Delayed eruption of teeth, Anteriorly pla... ORPHA:798
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ... ORPHA:276152
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas OMIM:193300
Pneumonia, Vomiting, Hypoglycemia, Ulcerative colitis, Cholestasis, Bloody diarrhea, Paralytic il... ORPHA:810
Granulomatosis With Polyangiitis
Keratitis, Nasal mucosa vasculitis, Episcleritis, Oral ulcer, Sinusitis, Concave nasal ridge, Con... OMIM:608710
Scorpion Envenomation
Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Hyperhidrosis, Myocarditis, Restlessness, Acute pa... ORPHA:466677
Wolfram Syndrome
Gastrointestinal hemorrhage, Polydipsia, Abnormal mesentery morphology, Constipation, Diabetes me... ORPHA:3463
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Diarrhea, Pituitary adenoma, Hepatitis, Hypoglycemia, Graves disease, A... ORPHA:199299
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... OMIM:149730
Alveolar Echinococcosis
Biliary cirrhosis, Vomiting, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio... ORPHA:284
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Hypoglycemia, Cholestasis, Hepatic steatos... ORPHA:264580
Irida Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:209981
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Steatorrhea OMIM:605911
Williams Syndrome
Carious teeth, Open bite, Death in early adulthood, Type II diabetes mellitus, Cryptorchidism, Ov... ORPHA:904
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pyelonephritis, Hepatic cysts, Pancreatic cysts, Polycysti... ORPHA:730
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Pancreatic cysts ORPHA:464329
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Decreased ci... OMIM:607398
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Death in infancy, Hypothyroidism ORPHA:95496
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Xerostomia, Hepat... ORPHA:227982
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Xerostomia, Hepat... ORPHA:227990
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Wide nasal bridge, Bifid uvula, Hepatic fibrosis, Depressed nasal bridge, Widely spaced teeth, Ch... OMIM:266920
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Abnorm... OMIM:616113
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Paral... OMIM:276700
Syndromic Diarrhea
Wide nasal bridge, Hepatic fibrosis, Intractable diarrhea, Bloody diarrhea, Abnormality of the li... ORPHA:84064
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Hyperhidrosis, Myocarditis, Pancreatic c... ORPHA:892
Addison Disease
Type I diabetes mellitus, Diarrhea, Hypoglycemia, Primary adrenal insufficiency, Hashimoto thyroi... ORPHA:85138
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Oral ulcer, Anorexia, Recur... OMIM:619381
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Hepatosplenomegaly, Anteverted nares, Death in infancy, Seborrheic dermatiti... OMIM:274000
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Cholestasis, Hepatosple... OMIM:620376
Coffin-Siris Syndrome 1
Cryptorchidism, High palate, Duodenal ulcer, Patent ductus arteriosus, Gastric ulcer, Choanal atr... OMIM:135900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Bacterial endocarditis, Abnormality o... ORPHA:2072
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Conjunctivitis, Thick lower lip vermilion, Parotiti... OMIM:256040
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Hyperhidrosis, Gastric ulcer, Arthritis OMIM:161700
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Primary Sjögren Syndrome
Biliary cirrhosis, Xerostomia, Arteritis, Parotitis, Chronic hepatitis, Lymphocytic interstitial ... ORPHA:289390
Generalized Glucocorticoid Resistance Syndrome
Increased circulating cortisol level, Hypoglycemia, Adrenal hyperplasia, Decreased circulating al... ORPHA:786
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca, Neonatal death OMIM:615709
Cowden Syndrome 7
Ductal carcinoma in situ, Hashimoto thyroiditis, Intestinal polyposis, Goiter OMIM:616858
Cowden Syndrome
Goiter, Furrowed tongue, Enlarged polycystic ovaries, Hamartomatous polyposis, Adenoma sebaceum, ... ORPHA:201
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100


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 Sec23b

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 Sec23b.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SEC23B is required for pancreatic acinar cell function in adult mice. Molecular biology of the cell (May 2017) Sec23btm1c(EUCOMM)Wtsi Sec23btm1a(EUCOMM)Wtsi Sec23btm1d(EUCOMM)Wtsi PMC5509426
Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. Scientific reports (June 2016) Sec23btm1c(EUCOMM)Wtsi Sec23btm1a(EUCOMM)Wtsi Sec23btm1d(EUCOMM)Wtsi PMC4906273
Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B. Molecular and cellular biology (July 2014) Sec23btm1c(EUCOMM)Wtsi Sec23btm1a(EUCOMM)Wtsi Sec23btm1d(EUCOMM)Wtsi PMC4187739
SEC23B is required for the maintenance of murine professional secretory tissues. Proceedings of the National Academy of Sciences of the United States of America (June 2012) Sec23btm1a(EUCOMM)Wtsi Sec23btm1b(EUCOMM)Wtsi PMC3406820

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
Sec23btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sec23btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter