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Gene: Sec23b MGI:1350925

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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:
SEC23 homolog B, COPII coat complex component
Synonyms:
N/A

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cowden Syndrome 7
Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Goiter OMIM:616858
Cowden Syndrome
Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate,... ORPHA:201
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Abnormality of the dentition, Celiac disease, Recurrent upper respiratory tract infection... OMIM:615952
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Carious teeth, Splenomegaly, Jaundice, Steatorrhea, E... OMIM:612714
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... ORPHA:314652
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Aganglionic megacolon, Malabsorption, Cryptorchidism, Patent ductus arteriosus,... ORPHA:452
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Diabetes mellitus, Malabsorption, Underdeveloped nas... ORPHA:2315
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Exocrine pancreatic insufficiency OMIM:618752
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Perlman Syndrome
Hepatomegaly, Anteverted nares, High, narrow palate, Cryptorchidism, Open mouth, Abnormal pancrea... ORPHA:2849
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis, Anorexia ORPHA:313906
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma... ORPHA:2869
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Shwachman-Diamond Syndrome 2
Hepatomegaly, Death in infancy, Diarrhea, Steatorrhea, Death in childhood, High palate, Hyperecho... OMIM:617941
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... ORPHA:1333
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepat... ORPHA:65682
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas... ORPHA:93111
Rauch-Steindl Syndrome
Hepatomegaly, Hyperactivity, Depressed nasal bridge, Miscarriage, Aggressive behavior, Wide nasal... OMIM:619695
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Anorexia, Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:456312
Deeah Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, High palate... OMIM:619004
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Depressed nasal bridge, Choanal atresi... OMIM:610199
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Ma... OMIM:557000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, H... OMIM:616263
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Exocrine pancreatic insufficiency, High palate, Type ... OMIM:618500
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-res... ORPHA:103918
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm... OMIM:175200
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Feingold Syndrome
Anteverted nares, Depressed nasal bridge, Abnormality of the spleen, Esophageal atresia, Patent d... ORPHA:1305
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Convex n... OMIM:609069
Bone Marrow Failure Syndrome 3
Hyperactivity, Eczema, Pancreatic steatosis, Cryptorchidism, Oral ulcer, Downturned corners of mo... OMIM:617052
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cystic Fibrosis
Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosi... OMIM:219700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Glucose intolerance, Glycosuria, Cirrhosis, Narrow mouth, Exocrine pancreatic insu... OMIM:616539
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se... ORPHA:587
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Gastroesophageal reflux, Widely spaced... OMIM:618268
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... ORPHA:2298
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, High palate, Bifid uvula, Median cleft lip OMIM:155145
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Oral ulcer, Gout, Inflammation of ... OMIM:232220
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Depressed nasal bridge, Hypoglycemia, Microvesicular hepatic stea... OMIM:619418
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Chronic otitis media, Abnormal dental enamel morphology, Hamartoma... ORPHA:2750
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Hepatomegaly, Abnormality of the gastrointestinal tract, Sinusitis, Sk... ORPHA:811
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis ORPHA:135
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Anorexia ORPHA:79312
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormality of the liver, Abnormal parotid gland morpholog... ORPHA:252164
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... ORPHA:31205
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the gastrointestinal tract, Gastropares... ORPHA:85443
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Lipoid Proteinosis
Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thic... ORPHA:530
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Hepatic steatosis, Pancreatitis OMIM:618805
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Advanced e... ORPHA:2348
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... OMIM:618935
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Patent ductus arteriosus, B... ORPHA:2255
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency OMIM:260400
Cystic Fibrosis
Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Abnor... ORPHA:586
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... ORPHA:79083
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatosis, Pancrea... ORPHA:435651
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... ORPHA:699
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi... OMIM:155310
Reynolds Syndrome
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker... ORPHA:779
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morpholo... ORPHA:556955
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Hypothyroidism, Pa... ORPHA:412057
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... ORPHA:733
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Dental crowding, Hepatic steatosis, Pancreatitis OMIM:236200
Maple Syrup Urine Disease
Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Downturned corners of mouth, Glycosuria, Hyperglyce... ORPHA:99885
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroidism, Abn... ORPHA:1667
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Pancreat... OMIM:610475
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae OMIM:612138
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Abnormal gastric mu... ORPHA:2494
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Constipation, Vomiting, Pancreatitis OMIM:606054
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Skin rash, Malabsorption, Orchitis, Splenomegaly, Peritonit... ORPHA:342
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Citrullinemia Type Ii
Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Abnormal eating behavior, Diarrhe... ORPHA:247585
Schimke Immuno-Osseous Dysplasia
Depressed nasal bridge, Abnormality of thyroid physiology, Broad nasal tip, Minimal change glomer... ORPHA:1830
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Anteverted nares, Decreased response to growth hormone stimulation te... OMIM:602782
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... ORPHA:210122
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Retroperitoneal fibrosis, Orchitis, Keratitis, Abnormality of the anterio... ORPHA:449563
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Patent ductus arteriosus, Biliary ... OMIM:600001
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Broad nasal tip, Aggressive ... OMIM:300148
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Tubulointerstitial nephritis, Vomiting, Pancreatitis OMIM:251000
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Depressed nasal bridge, Portal hypertension, Cryptorchidism, Patent ductus arte... OMIM:620005
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:617092
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Legionnaires Disease
Pericarditis, Anorexia, Splenomegaly, Jaundice, Recurrent pharyngitis, Diarrhea, Hepatitis, Myoca... ORPHA:549
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Underdeveloped nas... ORPHA:83617
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Enlargemen... ORPHA:79078
Adult Acute Respiratory Distress Syndrome
Pneumonia, Diabetic ketoacidosis, Pancreatitis ORPHA:70578
Mirizzi Syndrome
Nausea, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholelithiasis, Abnor... ORPHA:521219
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Diarrhea, Bloody diarrhea... ORPHA:90038
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:600740
Campomelia, Cumming Type
Hepatomegaly, Death in infancy, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abno... ORPHA:1318
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Anorexia, Jaundice, Ovarian neoplasm, Pancreatitis ORPHA:370348
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis... ORPHA:79259
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Depressed nasal bridge, Hypoglycemia, Vomiting, Dysphagia, Hepa... ORPHA:26791
Primary Ciliary Dyskinesia
Nasal polyposis, Intestinal malrotation, Asplenia, Bronchiectasis, Nasal congestion, Recurrent ot... ORPHA:244
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Death in infancy, Splenomegaly, Chronic diarrhea, Cholestasis, He... OMIM:300972
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Co... ORPHA:537
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Intermittent di... OMIM:232200
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Elevated hepatic ir... OMIM:619991
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Diarrhea, Hyperinsulinemia, Abnormal intestine morphology, Vomiting OMIM:606528
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Anore... ORPHA:117
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Microphthalmia, Syndromic 12
Intestinal malrotation, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Cleft palate, Neonata... OMIM:615524
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:99880
Acute Lung Injury
Acute pancreatitis, Addictive alcohol use, Pneumonia ORPHA:178320
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Splenomegaly, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uv... OMIM:181000
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:143
Bohring-Opitz Syndrome
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Supernumerary nipple, Depressed... OMIM:605039
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Intestinal obstruction, Nasal polyposis, Myositis, Sinusitis, Sk... ORPHA:183
Systemic Capillary Leak Syndrome
Myocarditis, Diarrhea, Pancreatitis, Pericarditis ORPHA:188
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Gastroparesis, Int... ORPHA:1876
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia, Abnormal palate morphology ORPHA:2022
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Anteverted nares, Asplenia, Esophageal atresia, Gastrointestin... OMIM:164280
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Allergic rhinitis, Patent ductus arteriosus, High palate, Constipation, Annular pancreas OMIM:618162
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X... ORPHA:90340
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Narrow nasal ridge, Splenomegaly, Insulin resistance, Polycystic... ORPHA:280365
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Primary Sclerosing Cholangitis
Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large intestine, He... ORPHA:171
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Diarrhea, Conjunctivitis, Dysphagia, Pancreatitis ORPHA:36426
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Distal Deletion 12Q
High, narrow palate, Biliary atresia, Self-mutilation, Hyperactivity, Anteverted nares, Esophagea... ORPHA:96149
Neonatal Hemochromatosis
Hypoglycemia, Anteverted nares, Prominent nose, Congenital hepatic fibrosis, Prolonged neonatal j... ORPHA:446
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... ORPHA:449395
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, ... ORPHA:2363
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Nausea, Intestinal perforation, Myocarditis, Diarrhea, Secretory di... ORPHA:544482
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Death in childhood, Hypopl... OMIM:243800
Aceruloplasminemia
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... ORPHA:48818
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Intestinal obstruction, Sinusitis, ... ORPHA:900
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Thin upper lip vermilion, Ectopic posterior pituitary, Hyperactivity... ORPHA:508488
Glycogen Storage Disease Iii
Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Hypoglycemia, Broad nasal tip, Th... OMIM:232400
Alagille Syndrome 1
Depressed nasal bridge, Hepatocellular carcinoma, Long nose, Bulbous nose, Cholestasis, Reduced n... OMIM:118450
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Crescentic glomerulonephritis, Ora... ORPHA:93126
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Wide nasal bridge, Long philtrum, Abnormal repetitive mannerisms, Exocr... ORPHA:508498
Cystinosis, Nephropathic
Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Hypohidrosis, Glycosuri... OMIM:219800
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gl... OMIM:154500
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Melas
Hypoparathyroidism, Diabetes mellitus, Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal ... ORPHA:550
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Skin rash, Anorexia, Pustule, Splenomega... ORPHA:50918
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Splenomegaly, Chronic d... ORPHA:3260
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Hypoglycemia, Chronic pancreatitis, Recurrent upper respiratory tract i... OMIM:232240
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Long philtrum OMIM:618958
Jacobsen Syndrome
Smooth philtrum, Death in infancy, Anteverted nares, Intestinal malrotation, Eczema, Cryptorchidi... ORPHA:2308
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to gr... OMIM:604292
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Pancreatic fibrosis OMIM:615503
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Cryptorchidism, Bulbous nose, Cleft lip, Patent ductus arterio... OMIM:616975
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Anorexia, Diarrhea, Jaundice, Lipid ac... ORPHA:20
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Anteverted nares, Tente... OMIM:229850
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Anosmia, Bronchiectasis, Chronic ... OMIM:244400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... OMIM:263520
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Hypothyroidism, ... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cryptorchidism, Diarrhea, Patent ductus arteriosus, Cholestasis, ... OMIM:608104
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo... OMIM:615577
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Hypoglycemia, Malabsorption, Recurrent upper respiratory... OMIM:233600
Perlman Syndrome
Distal ileal atresia, Tented upper lip vermilion, Depressed nasal bridge, Everted upper lip vermi... OMIM:267000
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Pyloric stenosis ORPHA:664
Glycerol Kinase Deficiency
Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Downturned corners of mouth, Adrenal insuffic... OMIM:307030
Jacobsen Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Pyloric s... OMIM:147791
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Naus... ORPHA:99826
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Polyphagia, Hyperinsulinemia, ... OMIM:608594
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis ORPHA:412
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Pancreatitis ORPHA:405
Fetal Gaucher Disease
Hepatomegaly, Death in infancy, Anteverted nares, Depressed nasal bridge, Splenomegaly, Abnormali... ORPHA:85212
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Depressed nasal bridge, Cryptorchidism, Supernumerary tooth, Hypoplasi... OMIM:268400
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Pancreatitis OMIM:619471
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Diarrhea... ORPHA:470
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Crimean-Congo Hemorrhagic Fever
Anorexia, Hyperhidrosis, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Epididym... ORPHA:99827
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:608647
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Hyperinsulinemia, Polycystic ovaries,... OMIM:269700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile... OMIM:208500
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Narrow nasal ridge, Narrow mouth, Diarrhea, Insulin resistance, Gluco... OMIM:606721
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Malrotation of small bowel, Recurrent u... ORPHA:264450
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Attention deficit hyperactivity disord... ORPHA:281090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarr... ORPHA:436159
Yellow Fever
Acute pancreatitis, Skin rash, Hematemesis, Pancreatic hyperplasia, Jaundice, Diarrhea, Vomiting,... ORPHA:99829
Sarcoidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Abnormal nasal mucosa morphology, Hypert... ORPHA:797
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis ORPHA:565612
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Mednik Syndrome
Death in infancy, Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in c... OMIM:609313
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Bohring-Opitz Syndrome
Anteverted nares, Depressed nasal bridge, Cleft lip, Wide nasal bridge, Cleft palate, Vomiting, C... ORPHA:97297
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Attentio... OMIM:227646
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ... OMIM:267010
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, Gastroesophageal refl... ORPHA:1606
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... ORPHA:564
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr... OMIM:616100
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Hypoglycemia, Supernumerary nipple, Aggressive behavior, Pyloric stenos... ORPHA:457279
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Vomiting, Pancreatitis OMIM:222700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Cleft lip, Patent ductus arteriosus, Trache... OMIM:265380
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma, Neonatal hypo... OMIM:130650
Afibrinogenemia, Congenital
Death in infancy, Epistaxis, Hematemesis, Splenic rupture, Death in adolescence, Gingival bleedin... OMIM:202400
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Abnormal mesentery morphology, Gas... ORPHA:3463
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis ORPHA:98908
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Esophageal a... OMIM:619859
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Underdeveloped nasal alae, Pancreatic cysts, Cleft upper l... OMIM:311200
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile d... ORPHA:731
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia OMIM:201910
Shigellosis
Hypoglycemia, Pneumonia, Anorexia, Intestinal perforation, Myocarditis, Peritonitis, Cholestasis,... ORPHA:810
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Broad nasal tip, Abnormality of t... ORPHA:798
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, High ... OMIM:262190
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g... OMIM:149730
Scorpion Envenomation
Restlessness, Acute pancreatitis, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Hyp... ORPHA:466677
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Esophageal varix, Hepatocellular adenoma, Cho... ORPHA:264580
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Celiac disease,... ORPHA:199299
Pancreatoblastoma
Jaundice, Vomiting, Pancreatic calcification, Diarrhea ORPHA:677
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypothyroidism, Hy... ORPHA:37042
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Concave nasal ridge, Conjunctivitis, Chr... OMIM:608710
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Williams Syndrome
Rectal prolapse, Gastroesophageal reflux, Compulsive behaviors, Microdontia, Chronic otitis media... ORPHA:904
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone cell adenoma... ORPHA:730
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Depressed nasal bridge, Hypoglycemia, Aggressive behavior, Cleft lip, Cleft palate,... OMIM:301066
Mirage Syndrome
Hypoglycemia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Patent ductus arteriosus, G... OMIM:617053
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology ORPHA:464329
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism ORPHA:95496
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xerostomia, Hep... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Biliary cirrhosis, Ante... ORPHA:227990
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormality of the sense of ... OMIM:616113
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Splenomegaly, Paralytic ileus, Melena, P... OMIM:276700
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:64
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Depressed nasal bridge, Cholangitis, Accessory oral frenulum, Pancreatic cysts, Con... OMIM:266920
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Patent ductus arteriosus, Wide nasal brid... ORPHA:84064
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Hyperhidr... ORPHA:892
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Salt cravin... ORPHA:85138
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Anteverted nares, Seborrheic dermatitis, Pancreatic cysts, Patent ductus arteri... OMIM:274000
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Oral ulcer, Colitis, Vomiting, Intractable diarrhea, Pustular rash, He... OMIM:619381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Splenomegaly, Abnormality of the spleen, Esophageal varix, Hepa... ORPHA:2072
Coffin-Siris Syndrome 1
Conical tooth, High palate, Short philtrum, Compulsive behaviors, Microdontia, Depressed nasal br... OMIM:135900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Jaundice, Vom... ORPHA:90790
Wolfram Syndrome 2
Diabetes mellitus, Gastric ulcer OMIM:604928
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis, Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Hepatomegaly, Impaired glucose tolerance, Prominent nose, Erythema nodosum, Splenom... OMIM:256040
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Acne, Hypoglycemia, Oligozoospermia, Increased circulating cortisol level, D... ORPHA:786
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:95494
Cowden Syndrome 7
Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Goiter OMIM:616858
Cowden Syndrome
Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate,... ORPHA:201
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Jaundice, Cholelithiasis OMIM:224100

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 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

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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

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