Not currently registered for phenotyping at IMPC

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

Gene Summary

cathepsin B

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 Ctsb 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 Ctsb by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis OMIM:148370

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

Disease Similarity of
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Thyroid Dyshormonogenesis 3
Thyroid carcinoma, Increased T3/T4 ratio, Compensated hypothyroidism, Goiter OMIM:274700
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... ORPHA:411593
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... OMIM:610582
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Anti-glutamic acid decarb... OMIM:616329
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Type 1 Diabetes Mellitus
Hyperglycemia, Autoimmunity, Diabetes mellitus OMIM:222100
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Amyloidosis, Hereditary Systemic 2
Renal amyloidosis, Cholestasis, Splenomegaly, Generalized amyloid deposition, Hepatomegaly OMIM:105200
Pendred Syndrome
Thyroid carcinoma, Compensated hypothyroidism, Goiter OMIM:274600
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus OMIM:608600
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:274300
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Aa Amyloidosis
Renal amyloidosis, Cholestasis, Adrenal insufficiency, Amyloidosis, Hypothyroidism, Hepatomegaly ORPHA:85445
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Hypoglycemia OMIM:620137
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Cutaneous ... OMIM:171400
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Splenomegaly, Auto... ORPHA:444463
Chylous Ascites
Pancreatitis ORPHA:1160
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Blepharochalasis And Double Lip
Goiter OMIM:109900
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... ORPHA:103918
Medullary Thyroid Carcinoma
Pheochromocytoma, Nodular goiter, Medullary thyroid carcinoma, Abnormal liver parenchyma morpholo... ORPHA:1332
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia OMIM:619386
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Allergic rhinitis, Autoimmunity OMIM:131430
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Chr... ORPHA:65682
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Thyroid Lymphoma
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter ORPHA:97285
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi... ORPHA:2298
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Pendred Syndrome
Thyroid carcinoma, Hyperparathyroidism, Hypothyroidism, Goiter ORPHA:705
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... ORPHA:69663
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder... OMIM:615710
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Pancreatitis, Hepatic steatosis OMIM:618805
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Retrobulbar optic neuritis OMIM:619737
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Maple Syrup Urine Disease, Type Ia
Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimmunity, Ant... ORPHA:703
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Microscopic Polyangiitis
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Autoimmunity, Episcleritis, Skin rash, Increased ... ORPHA:727
Bangstad Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis OMIM:105120
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Aapoaiv Amyloidosis
Renal amyloidosis, Cutaneous amyloidosis, Renal interstitial amyloid deposits, Diabetes mellitus,... ORPHA:439232
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, AA amyloidosis, Hepatic amyloidosis OMIM:142680
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... OMIM:618935
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:435651
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Propionic Acidemia
Vomiting, Eczematoid dermatitis, Hypoglycemia, Constipation, Pancreatitis, Hepatomegaly OMIM:606054
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos... ORPHA:79083
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis, Autoimmunity OMIM:617006
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Autoimmunity, Hepatic ... ORPHA:79086
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Hypoglycemia, Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis OMIM:251000
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... ORPHA:525731
Cach Syndrome
Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia ORPHA:135
Amyloidosis, Hereditary Systemic 1
Amyloidosis OMIM:105210
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:2348
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Familial Mediterranean Fever
Renal amyloidosis, Splenomegaly, Amyloidosis, Orchitis, Peritonitis, Hepatomegaly OMIM:249100
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... OMIM:152700
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Hypothyroidism, Hypert... ORPHA:48377
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Portal hypertension, Splenomegaly, Hypothyroidism, Cirrhosis, Cholangiocarcinoma, ... ORPHA:465508
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Alopecia Totalis
Type I diabetes mellitus, Inflammation of the large intestine, Autoimmunity ORPHA:700
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim... ORPHA:79480
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hyperglycemia, Abnormal glucose homeostasis, Peritonitis, Bloody diarrhea ORPHA:391673
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Type II diabetes mellitus, Hypothyroidism, Iridocyclitis, Pancreatitis,... ORPHA:412057
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Vomiting, Hypoglycemia OMIM:615453
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom... OMIM:615952
Cowden Syndrome 6
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615109
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Q Fever
Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Cholecystitis, Splenomegaly, Amyloidosis... ORPHA:781
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypopituitarism, Hyperglycemia, Hypothyroidism, Nausea ORPHA:90065
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Legionnaires Disease
Diarrhea, Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, ... ORPHA:549
Glycogen Storage Disease Ia
Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Intermittent diarrhea, Hepa... OMIM:232200
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... ORPHA:2552
Systemic Capillary Leak Syndrome
Myocarditis, Diarrhea, Pancreatitis, Pericarditis ORPHA:188
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Melena, Nausea, M... ORPHA:319218
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Amyloidosis ORPHA:98849
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Hypohidrosis OMIM:301220
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating parathyroid hormone level, Cutaneous lichen amyl... ORPHA:653
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Hypoglycemia, Hyperglycemia, Hepatomegaly ORPHA:134
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Hype... ORPHA:228426
Cowden Syndrome 1
Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc... OMIM:158350
Cole Disease
Hyperglycemia OMIM:615522
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Prolonged neonatal j... ORPHA:499009
Primary Sclerosing Cholangitis
Hepatic fibrosis, Type I diabetes mellitus, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenom... ORPHA:171
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Short Syndrome
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal absce... ORPHA:444490
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Pancreatic f... OMIM:232220
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Splenomegaly, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis, Pe... ORPHA:85414
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Exocrine pancreatic insufficien... OMIM:219700
Familial Mediterranean Fever
Splenomegaly, Amyloidosis, Orchitis, Peritonitis, Pancreatitis ORPHA:342
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Bronchiectasis ORPHA:1303
Diarrhea, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Periton... ORPHA:73263
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Dend Syndrome
Hyperglycemia, Vomiting ORPHA:79134
Mirizzi Syndrome
Cholelithiasis, Vomiting, Nausea, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladd... ORPHA:521219
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism OMIM:145981
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Alopecia Universalis
Atopic dermatitis, Type I diabetes mellitus, Psoriasiform dermatitis, Autoimmunity ORPHA:701
Pauci-Immune Glomerulonephritis
Arteritis, Cytoplasmic antineutrophil antibody positivity, Scleritis, Antinuclear antibody positi... ORPHA:93126
Thyroid Hypoplasia
Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Acute pancreatitis, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus ORPHA:412
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Autoimmunity, Pancreatitis ORPHA:1830
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Insulin-resistant diabetes mellitus, Decreased response to growth... OMIM:203800
Prostatitis, Hypothyroidism, Black pigment gallstones, Amyloidosis ORPHA:56
Acute Lung Injury
Pneumonia, Acute pancreatitis ORPHA:178320
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R... ORPHA:99885
Citrullinemia Type Ii
Hepatic fibrosis, Diarrhea, Vomiting, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellul... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Hypoglycemia, Hepatic periportal necrosis, Dysphagia, Hepatomegaly, Acute pancreatitis ORPHA:26791
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis OMIM:236200
Caroli Syndrome
Intrahepatic cholestasis, Melena, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis... ORPHA:480520
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hypoglycemia, Gout, Hepatic steatos... ORPHA:79259
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn... ORPHA:449395
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... ORPHA:562639
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... ORPHA:733
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis OMIM:238600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Panhypopituitarism, De... OMIM:146510
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Graves disease, A... ORPHA:227982
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Nonketotic hypoglycemia, Epi... ORPHA:20
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased r... ORPHA:226307
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:280365
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid hypoplasia, Ectopic... ORPHA:3047
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Autoimmunity, Otitis media, Skin rash, Intestinal obstruction, Incre... ORPHA:900
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Aplasia/Hypoplasi... ORPHA:227990
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Dysphagia ORPHA:449427
Visceral Myopathy 1
Diarrhea, Vomiting, Gastroparesis, Constipation, Pancreatitis, Dysphagia OMIM:155310
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy... OMIM:619487
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc... OMIM:248370
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic st... OMIM:124000
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Constipation, Hyperhidrosis, Hyperthyroidism, Thyroto... ORPHA:79102
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Fasting hypoglycemia, Hepatomegaly OMIM:227810
Scorpion Envenomation
Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Hyperhidrosis, Myocarditis, Acute pancreatitis ORPHA:466677
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Pancreatitis, Neoplasm of the pancreas ORPHA:370348
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Gout, Chronic pancreatitis, Hepatoblastoma, He... OMIM:232240
Behçet Disease
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis... ORPHA:117
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:565612
Pneumonia, Folliculitis, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Abnormality... ORPHA:228123
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Vomiting, Hypoglycemia ORPHA:3008
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Pancreatitis, Myocarditis, Se... ORPHA:544482
Igg4-Related Ophthalmic Disease
Keratitis, Orchitis, Antinuclear antibody positivity, Prostatitis, Pancreatitis, Sinusitis, Chola... ORPHA:449563
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis OMIM:134610
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism OMIM:600740
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Vomiting, Hepatospl... ORPHA:3260
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Type I diabetes mellitus, Diarrhea, Vomiting, Type II diabetes mellitus, Recurrent pancreatitis, ... ORPHA:550
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Nodular goiter, Medullary thyroid carcinoma, Elevated circulating calcitonin co... OMIM:162300
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm ORPHA:276399
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Peritonitis, Pancreatitis, Acute colitis ORPHA:90038
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Recurrent otitis media, Exocrine pancreatic insufficienc... OMIM:618268
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Abnormality of the liver, Hypothyroidism, Hyperthyroidism, Diabetes mellitus ORPHA:254892
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hepatic amyloidosis, Decreased response to growth hormone stimulation test, H... ORPHA:470
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Pancreatitis, Conjunctivitis, Dysphagia ORPHA:36426
Marburg Hemorrhagic Fever
Uveitis, Diarrhea, Vomiting, Hypoglycemia, Skin rash, Orchitis, Nausea, Pancreatitis, Arthritis, ... ORPHA:99826
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly, D... OMIM:608594
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Splenomegaly, Pancreatitis, Hepatomegaly, Nausea OMIM:222700
Glycerol Kinase Deficiency
Vomiting, Hypoglycemia, Adrenal insufficiency, Chronic pancreatitis, Episodic vomiting, Nausea OMIM:307030
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Toxic Epidermal Necrolysis
Conjunctivitis, Gastrointestinal hemorrhage, Pancreatitis, Dysphagia ORPHA:537
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t... ORPHA:444077
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Decreased response to grow... ORPHA:293987
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Biliary atresia, Diabetes m... OMIM:600001
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatome... OMIM:269700
Crimean-Congo Hemorrhagic Fever
Melena, Diarrhea, Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecysti... ORPHA:99827
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Constipation, Pancreatitis, Dysphagia, Primary hyperparathyroidism ORPHA:99880
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Constipation, Pancreatitis, Dysphagia, Primary hyperparathyroidism ORPHA:143
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst OMIM:620371
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... ORPHA:79474
Cowden Syndrome
Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the thyroid g... ORPHA:201
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Hepatomegaly, Diabetes mellitus ORPHA:98908
Muckle-Wells Syndrome
Hepatomegaly, Renal amyloidosis, Delayed puberty, Splenomegaly ORPHA:575
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Vomiting, Hypoglycemia, Hyperglycemia, Microvesicular hepatic steatosis, Dysphagia, Increased hep... OMIM:220111
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Glucose intolerance, Recurrent ... OMIM:606721
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Stüve-Wiedemann Syndrome
Hypothyroidism, Hyperhidrosis, Hypohidrosis, Ectopic thyroid ORPHA:3206
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Impaired fasting gluco... ORPHA:110
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Skin rash, Nausea, Hematemesis, Jaundice, Acute pancr... ORPHA:99829
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Thyroid hypoplasia, Cryptorch... ORPHA:2166
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism ORPHA:861
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... ORPHA:672
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Decreased response to growth hormone stimulation test, Cholestasis, Hepato... OMIM:619503
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis, Delayed puberty ORPHA:79408
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis OMIM:148370


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 Ctsb

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 Ctsb.

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

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MGI Allele Allele Type Produced
Ctsbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ctsbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctsbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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