Not currently registered for phenotyping at IMPC

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

Gene Summary

HNF1 homeobox B
HNF-1Beta,  hepatocyte nuclear factor-1 beta,  vHNF1,  LFB3,  Tcf2,  Tcf-2,  Hnf1beta

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 Hnf1b 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 Hnf1b by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
17Q12 Microdeletion Syndrome
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism ORPHA:261265
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Impaired glucose tolerance, Glycosuria, Biliary tract abnormality, Maturit... OMIM:137920
Medullary Sponge Kidney
Renal Cell Carcinoma, Nonpapillary

The table below shows human diseases predicted to be associated to Hnf1b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... ORPHA:64744
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Glycogen Storage Disease Ib
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Hypoglycemia, ... OMIM:232220
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... OMIM:615710
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... OMIM:167800
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus ORPHA:676
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Diabetes mellitus, Delayed pube... OMIM:616263
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... ORPHA:103918
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... OMIM:232240
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... ORPHA:276608
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Punctate keratitis, Type I diabetes mellitus, Steatorrhea, Pancre... OMIM:557000
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Pineal cyst, Hepatic steatosis, Diabetes mellitus, Cholecystitis, Hepatomegaly ORPHA:98908
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... ORPHA:276580
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... ORPHA:276575
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Reduced circulating growth hormone concentration, Decreased serum in... OMIM:262400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, High palate, Diabetic ketoacidosis, Hypoglycemia, Postprand... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis OMIM:619386
Essential Fructosuria
Hyperglycemia ORPHA:2056
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... OMIM:246200
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Nephritis, Polycystic liver disease, Bile duct prol... OMIM:208500
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insul... ORPHA:435651
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... ORPHA:324575
Pearson Syndrome
Hypothyroidism, Abnormality of the liver, Decreased response to growth hormone stimulation test, ... ORPHA:699
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, High, narrow palate ORPHA:2849
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Pneumonia, Fasting hyperinsulinemia, Glucose in... ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... OMIM:615935
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... ORPHA:276556
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia OMIM:609069
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly OMIM:243300
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Intestinal malrotation, Microglossia, Pancreatic fibrosis, Cleft palate, Hamart... OMIM:263520
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Acholic stools, Cholestatic liver ... ORPHA:65682
Meckel Syndrome
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Accessory sple... ORPHA:564
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Neonatal insulin-de... OMIM:260370
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinem... ORPHA:97279
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71526
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... ORPHA:293964
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Hurthle cell thyroid aden... OMIM:145001
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... ORPHA:90970
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... OMIM:151660
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... ORPHA:280356
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... OMIM:600803
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Diabetes melli... ORPHA:79083
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia OMIM:606528
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... OMIM:615363
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Testicular at... ORPHA:465508
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepat... ORPHA:2348
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly OMIM:251000
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... OMIM:603471
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... OMIM:601346
Hemochromatosis Type 2
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Hypogonadism, Congenital hepatic... ORPHA:79230
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... ORPHA:69076
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Central diabetes insipidus, Dia... ORPHA:411590
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... ORPHA:79086
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... ORPHA:1227
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism OMIM:619737
Propionic Acidemia
Hypoglycemia, Eczema, Pancreatitis, Hepatomegaly OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly ORPHA:289916
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... OMIM:617253
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... OMIM:606069
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Splenomegaly, Hepatomegaly ORPHA:79312
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hypogonadism, Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus,... ORPHA:412057
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Hyperinsulinemic hypoglyce... ORPHA:263455
Gcgr-Related Hyperglucagonemia
Increased glucagon level, Neoplasm of the pancreas, Stomatitis, Diabetes mellitus, Abnormal bilia... ORPHA:438274
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Gout, Hypoglycemia, Delayed puberty, Hepatomegaly, Fasting hypoglycemia... OMIM:232200
Isolated Sedoheptulokinase Deficiency
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... ORPHA:440713
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly ORPHA:27
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabet... ORPHA:444490
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... OMIM:269880
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Gout, Hepatomegaly ORPHA:412
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Fur... ORPHA:769
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma OMIM:145980
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intole... OMIM:608612
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Decreased testicular size, Type II diabetes mellitus, Polycystic ovaries, Hyper... ORPHA:3085
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypogly... ORPHA:276152
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Abnormal testis morphology, Hypogonadism ORPHA:791
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis OMIM:615947
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly ORPHA:75563
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Ulcerative colitis, Anal fissure, Hepatosplenom... OMIM:618935
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Colon perforation, Glycosuria, Microc... OMIM:600001
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, High palate, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, H... OMIM:248370
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hepatomegaly ORPHA:134
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... OMIM:201400
Cole Disease
Hyperglycemia OMIM:615522
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Decre... ORPHA:280365
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pancreatitis ORPHA:188
Microscopic Polyangiitis
Skin rash, Arthritis, Uveitis, Pericarditis, Sinusitis, Episcleritis, Peritonitis, Increased infl... ORPHA:727
Rat-Bite Fever
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Maculopapular exanthema, Erythema ... ORPHA:31205
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidis... ORPHA:562
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Diabetes mellitus, Delayed puberty, Hepatomeg... ORPHA:456312
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Legionnaires Disease
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis, Myocardit... ORPHA:549
Tenorio Syndrome
Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Macroglossia, Recurrent pneumonia, Hyp... OMIM:616260
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Hepatomegaly, Pancreatitis ORPHA:565612
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Galactokinase Deficiency
Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatomegaly ORPHA:79237
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pan... ORPHA:48818
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Protein-losing ent... ORPHA:79319
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hypoglycemia, Splenomegaly ORPHA:664
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Hepatomegal... OMIM:613027
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, High palate, Pancreatitis OMIM:236200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... OMIM:608594
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Jaundice, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm ORPHA:370348
Feingold Syndrome
Abnormality of the spleen, Duodenal atresia, Esophageal atresia, Annular pancreas ORPHA:1305
Mirizzi Syndrome
Cholesterol gallstones, Jaundice, Cholelithiasis, Abnormality of the ductus choledochus, Gallblad... ORPHA:521219
17Q12 Microdeletion Syndrome
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism ORPHA:261265
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hepatic periportal necrosis, Hepatomegaly, Hypoglycemia ORPHA:26791
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Celiac disease, Hepatomegaly, S... ORPHA:171
Prostatitis, Biliary tract abnormality, Myositis, Pneumonia, Lymphadenitis, Endocarditis, Osteomy... ORPHA:2552
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Cholangitis, Abnormality of the ... ORPHA:449432
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis OMIM:600740
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Enterocolitis, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative c... ORPHA:79259
Citrullinemia Type Ii
Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Pancreatitis, Delaye... ORPHA:247585
Familial Adenomatous Polyposis
Hypothyroidism, Adenocarcinoma of the small intestine, Cholangiocarcinoma, Hepatoblastoma, Papill... ORPHA:733
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Insulin resistance, Macroglossia, Hep... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... OMIM:269700
Caroli Syndrome
Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarcinoma, Chola... ORPHA:480520
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis,... OMIM:124000
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceu... OMIM:131100
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Insulin resistance, Increased circu... ORPHA:508
Endocarditis, Enterocolitis, Infectious encephalitis, Colon perforation, Hepatitis, Fasciitis, Il... ORPHA:73263
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... ORPHA:300373
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Scorpion Envenomation
Hyperhidrosis, Glycosuria, Acute pancreatitis, Hyperglycemia, Myocarditis ORPHA:466677
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Nonketotic hypoglycemia, Acute pancreatitis, Recurrent hypoglycemia, Hepatomegaly, Lipi... ORPHA:20
Cystic Fibrosis
Meconium ileus, Cirrhosis, Biliary cirrhosis, Bronchiectasis, Chronic sinusitis, Steatorrhea, Hep... OMIM:219700
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Villous atrophy, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatom... OMIM:602579
Familial Mediterranean Fever
Splenomegaly, Malabsorption, Skin rash, Arthritis, Erysipelas, Pericarditis, Intestinal obstructi... ORPHA:342
Ebola Hemorrhagic Fever
Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... ORPHA:210122
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Parathyroid adenoma, Thyroid carcinoma, Abnormality of t... ORPHA:99880
Dend Syndrome
Hyperglycemia ORPHA:79134
Visceral Myopathy 1
Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Intestinal pseudo-obstruction OMIM:155310
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Minimal change glomerulonephritis, Pancreatitis, Abnormality of th... ORPHA:1830
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Thyroid carcinoma, Abnormality of the parathyroid morpho... ORPHA:143
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Hepatomegaly ORPHA:3008
Alstrom Syndrome
Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased res... OMIM:203800
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Chilblains, Hepatosplenomegaly, Hepatic steatosis, Pericarditis... OMIM:619487
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Pancreatitis OMIM:619471
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance OMIM:617885
Shwachman-Diamond Syndrome 2
High palate, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogenic pancreas OMIM:617941
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia, High palate, Neonatal insulin-dependent diabetes mellitus ORPHA:556955
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Recurrent pancreatitis, Hypothyroidism, Type II diabetes mellitus, Type I diabetes mellitus, Diab... ORPHA:550
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Allergic rhinitis, Eczema, Decreased serum insulin-like growth factor 1, Annular pan... OMIM:618162
Igg4-Related Pachymeningitis
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Pancreatitis ORPHA:449427
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... ORPHA:293987
Atypical Werner Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Glycosuria, Type II diabetes mellitus... ORPHA:79474
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Intussusception, Peritonitis, Acute colitis, Pancreatiti... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Septic arthritis, Myocarditis, Intussusception, Diabetes mellitus, Pneumo... ORPHA:544482
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Prostatitis, Thyro... ORPHA:449563
Atelosteogenesis Type I
Cleft palate, Abnormal pancreatic duct morphology, Malrotation of colon ORPHA:1190
Abnormality of the liver, Osteomyelitis, Folliculitis, Erythema nodosum, Skin rash, Peritonitis, ... ORPHA:228123
Behçet Disease
Endocarditis, Splenomegaly, Recurrent aphthous stomatitis, Malabsorption, Arthritis, Keratoconjun... ORPHA:117
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypothyroidism, High palate, Macroglossia, Steatorrhea, Recurrent otitis ... OMIM:618268
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Impaired glucose tolerance, Glycosuria, Biliary tract abnormality, Maturit... OMIM:137920
Granulomatosis With Polyangiitis
Diabetes insipidus, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Ch... ORPHA:900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Toxic Epidermal Necrolysis
Conjunctivitis, Intestinal perforation, Malabsorption, Tracheoesophageal fistula, Pancreatitis ORPHA:537
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Scleritis, Glomerulonephritis, Crescentic glomerulonephritis, Pancr... ORPHA:93126
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, High palate, Aspiration pn... ORPHA:444077
Stevens-Johnson Syndrome
Conjunctivitis, Esophageal stricture, Pancreatitis ORPHA:36426
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Lymphadenitis, Tubulointerstitial nephritis, Retroperitone... ORPHA:449395
Idiopathic Hypereosinophilic Syndrome
Erythroderma, Inflammatory abnormality of the skin, Malabsorption, Arthritis, Pancreatitis, Eczem... ORPHA:3260
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... OMIM:267010
Marburg Hemorrhagic Fever
Skin rash, Jaundice, Arthritis, Uveitis, Pericarditis, Hypoglycemia, Orchitis, Maculopapular exan... ORPHA:99826
Mandibuloacral Dysplasia
Hyperinsulinemia, High palate, Insulin resistance, Abnormal tongue morphology, Insulin-resistant ... ORPHA:2457
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Pancreatitis ORPHA:405
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Pyloric stenosis, Insulin resistance, Hepatic steatosis, Recurrent pneumonia, H... OMIM:613327
Lysinuric Protein Intolerance
Pancreatitis, Splenomegaly, Hepatomegaly OMIM:222700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Esophageal varix, Hepatomegaly, Hepatic ... OMIM:263200
Bohring-Opitz Syndrome
Narrow palate, Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Hyperechogen... OMIM:605039
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Paraganglioma OMIM:193300
Distal Monosomy 12Q
Late onset atopic dermatitis, Biliary atresia, Esophageal atresia, Pyloric stenosis, Pituitary ad... ORPHA:96149
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Anteriorly placed anus, Hypoglycemia, Hyperglycemia, Increased ... OMIM:220111
Jaundice, Pancreatic calcification ORPHA:677
Beckwith-Wiedemann Syndrome
Hypothyroidism, Large intestinal polyposis, Adrenocortical carcinoma, Macroglossia, Neonatal hypo... ORPHA:116
Feingold Syndrome 1
Asplenia, High palate, Jejunal atresia, Esophageal atresia, Polysplenia, Tracheoesophageal fistul... OMIM:164280
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Cirrhosis, Decreased response to growth hormone stimulation test, S... ORPHA:470
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Ankyloglossia, Annular pancreas ORPHA:488642
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Hyperhidrosis, Hemoperitoneum, Erythema nodosum, Adrenal insufficiency, Jaundice,... ORPHA:99827
Yellow Fever
Jaundice, Acute pancreatitis, Skin rash, Pancreatic hyperplasia ORPHA:99829
Rothmund-Thomson Syndrome, Type 2
High palate, Hypogonadism, Anteriorly placed anus, Cryptorchidism, Annular pancreas OMIM:268400
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Rhinitis, Insulin resistance, Hyperinsulinemia ORPHA:230
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Cryptorchidism, An... OMIM:227646
Jacobsen Syndrome
Annular pancreas, Pyloric stenosis, Cryptorchidism OMIM:147791
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... ORPHA:2255
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... OMIM:176270
Trisomy 8P
Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Cryptorchidism, A... ORPHA:264450
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Pyloric stenosis, Eczema, Intestinal malrotation, Cryptorc... ORPHA:2308
Fryns Syndrome
Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Ectopic pancreatic tissue, ... OMIM:229850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Cryptorchidism, Annular pancreas, Furrowed tongue, Duodenal atresia OMIM:616975
Bohring-Opitz Syndrome
Cleft palate, Cholelithiasis, Annular pancreas ORPHA:97297
Alström Syndrome
Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Decreased circula... ORPHA:64
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Congenital shortened small intestine, Esophageal atresia, Anal atresia, Tracheoesophage... OMIM:265380
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Liver Disease, Severe Congenital
Peritonitis, Portal inflammation, Hyperinsulinemic hypoglycemia, Eczema, Hepatic steatosis, Hepat... OMIM:619991
Leukocyte Adhesion Deficiency
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Perianal abscess, Bronchiectasis, C... ORPHA:2968
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99226
Schinzel-Giedion Syndrome
Central hypothyroidism, High palate, Aganglionic megacolon, Macroglossia, Hepatoblastoma, Anterio... ORPHA:798
1P36 Deletion Syndrome
Hypothyroidism, Abnormality of the liver, Abnormality of the anus, Hypogonadism, Pyloric stenosis... ORPHA:1606
Hepatic fibrosis, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
Renal Cell Carcinoma, Nonpapillary
Medullary Sponge Kidney


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 Hnf1b

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 Hnf1b.

No publications found that use IMPC mice or data for Hnf1b.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Hnf1btm50335(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter