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
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Autoimmunity, Insulin resistance OMIM:612227
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Autoimmunity, Hyperinsulinemic hypoglycemia, Autoimm... ORPHA:411593
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Anti-glutamic acid decarb... OMIM:610582
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
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, A... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Autoimmunity OMIM:222100
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... 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
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis OMIM:613791
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Abnormal salivary g... ORPHA:314652
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Essential Fructosuria
Hyperglycemia ORPHA:2056
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis OMIM:216950
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Vomiting, Pancreatitis, Diarrhea OMIM:620137
Amyloidosis, Familial Visceral
Splenomegaly, Generalized amyloid deposition, Cholestasis, Hepatomegaly OMIM:105200
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency, Amyloidosis, Cholestasis, Hepatomegaly, Renal amyloidosis ORPHA:85445
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... ORPHA:552
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... OMIM:274300
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Cutaneous lichen amyloidosis, Increased circulating cortisol level, Pheochro... OMIM:171400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Graves Disease, Susceptibility To, 1
Hyperhidrosis, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... OMIM:275000
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Permanent Congenital Hypothyroidism
Hypothyroidism, Jaundice, Thyroid dysgenesis, Goiter ORPHA:226292
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:444463
Chylous Ascites
Pancreatitis ORPHA:1160
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Blepharochalasis And Double Lip
Goiter OMIM:109900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... OMIM:167800
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly OMIM:243300
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Vomiting, J... ORPHA:103918
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Autoimmunity, Neonatal hypoglycemia, Increased... ORPHA:293964
Medullary Thyroid Carcinoma
Hyperhidrosis, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma... ORPHA:1332
Igg4-Related Thyroid Disease
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Sclerosing cholangitis, Th... ORPHA:64744
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis OMIM:619386
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... OMIM:604367
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... OMIM:600803
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Chronic diarrhea, Jaundice, Hepatocellular carcinoma, Acholic stools, ... ORPHA:65682
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Autoimmunity, Allergic rhinitis OMIM:131430
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Pneumonia, Antinuclear antibody positivity, Fas... ORPHA:2298
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus ORPHA:676
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Pendred Syndrome
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma ORPHA:705
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... OMIM:609152
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno... ORPHA:226316
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Diarrhea, Acholic stools, Diabetes me... OMIM:615710
Maple Syrup Urine Disease
Hypoglycemia, Vomiting, Pancreatitis OMIM:248600
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Donohue Syndrome
Hepatic fibrosis, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... OMIM:246200
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Autoimmunity, Xer... OMIM:270150
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea OMIM:618805
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Retrobulbar optic neuritis OMIM:619737
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:99819
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:226313
Microscopic Polyangiitis
Diarrhea, Skin rash, Arthritis, Autoimmunity, Uveitis, Pericarditis, Sinusitis, Gastrointestinal ... ORPHA:727
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Maffucci Syndrome
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Pituitary... ORPHA:163634
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:424
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus OMIM:210740
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... OMIM:603471
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, AA amyloidosis, Hepatomegaly OMIM:142680
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Diarrhea,... ORPHA:31205
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Eczema, Ulcerative colitis, Hepatosplenomegaly,... OMIM:618935
Primary Sclerosing Cholangitis
Splenomegaly, Hepatic fibrosis, Cirrhosis, Hepatitis, Thyroiditis, Amyloidosis, Hepatocellular ca... ORPHA:171
Aapoaiv Amyloidosis
Renal interstitial amyloid deposits, Cutaneous amyloidosis, Cardiac amyloidosis, Diabetes mellitu... ORPHA:439232
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Propionic Acidemia
Vomiting, Eczema, Hypoglycemia, Constipation, Hepatomegaly, Pancreatitis OMIM:606054
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Splenomegaly, Maternal diabetes, Insulin resistance, Hepatic steatosis, Diabetes melli... ORPHA:79083
Dend Syndrome
Hyperglycemia, Vomiting, Autoimmune antibody positivity ORPHA:79134
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Autoimmunity, Hepatic steatosis, Acute pancreati... ORPHA:79086
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Vomiting, Hypoglycemia, Hepatomegaly, Pancreatitis OMIM:251000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Colitis OMIM:617006
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Hyperglycemia, Peritonitis ORPHA:391673
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Pancre... ORPHA:90970
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Congenital Hypothyroidism
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Abnormality of the thyroid gland, Prolong... ORPHA:442
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatomegaly ORPHA:435651
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly ORPHA:289916
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Splenomegaly, Hepatomegaly ORPHA:79312
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of the thyroid gland, P... ORPHA:457059
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Increased seru... ORPHA:562
Pediatric-Onset Graves Disease
Hyperhidrosis, Increased circulating T4 concentration, Jaundice, Thyrotoxicosis with diffuse goit... ORPHA:525731
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancreatitis ORPHA:2348
Cach Syndrome
Vomiting, Hepatosplenomegaly, Optic neuritis, Dysphagia, Pancreatitis ORPHA:135
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes mell... ORPHA:465508
Familial Mediterranean Fever
Peritonitis, Amyloidosis, Hepatomegaly, Orchitis, Renal amyloidosis, Splenomegaly OMIM:249100
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Achalasia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... OMIM:615952
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism OMIM:145001
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Autoimmunity, Pustule, Systemic lupus eryt... ORPHA:48377
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Dysphagia, Pa... ORPHA:412057
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Vomiting OMIM:615453
Cole Disease
Hyperglycemia OMIM:615522
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Vomiting, Hypopituitarism, Nausea, Hyperglycemia ORPHA:90065
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615109
Pemphigus Erythematosus
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... ORPHA:79480
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Hepatomegaly,... OMIM:151660
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Aut... ORPHA:231154
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Q Fever
Abnormality of the liver, Hepatitis, Amyloidosis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly... ORPHA:781
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly ORPHA:27
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis OMIM:615947
Cowden Syndrome 7
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter OMIM:616858
Legionnaires Disease
Endocarditis, Splenomegaly, Diarrhea, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis,... ORPHA:549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Splenomegaly, Hepatomegaly ORPHA:98849
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Glycogen Storage Disease Ia
Intermittent diarrhea, Hepatocellular carcinoma, Gout, Hypoglycemia, Hepatomegaly, Fasting hypogl... OMIM:232200
Prostatitis, Biliary tract abnormality, Myositis, Chronic diarrhea, Pneumonia, Lymphadenitis, End... ORPHA:2552
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... OMIM:617253
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Cutaneous lichen amyloidosis, Parathyroid adenoma, Parathyroid hyperplasia, Neopla... ORPHA:653
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Hypohidrosis OMIM:301220
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Hyperlipoproteinemia, Type I
Splenomegaly, Vomiting, Jaundice, Hepatosplenomegaly, Nausea, Pancreatitis OMIM:238600
Isolated Sedoheptulokinase Deficiency
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... ORPHA:440713
Ebola Hemorrhagic Fever
Vomiting, Diarrhea, Hepatitis, Acute pancreatitis, Nausea, Gastrointestinal hemorrhage, Dysphagia... ORPHA:319218
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pancreatitis, Diarrhea ORPHA:188
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian carcinoma, Ovarian cyst, ... OMIM:158350
Brain-Lung-Thyroid Syndrome
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... ORPHA:209905
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Glycogen Storage Disease Ib
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Hypoglycemia, ... OMIM:232220
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... ORPHA:652
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia OMIM:609069
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
Mirizzi Syndrome
Vomiting, Cholesterol gallstones, Jaundice, Nausea, Cholelithiasis, Abnormality of the ductus cho... ORPHA:521219
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Hepatomegaly, Splenomegaly,... ORPHA:85414
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Cirrhosis, Anti-thyroid peroxidase antibody positivity, Anti-glutamic acid decarb... ORPHA:228426
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Endocarditis... ORPHA:73263
Thyroid Ectopia
Hypothyroidism, Ectopic thyroid, Jaundice, Abnormality of the thyroid gland ORPHA:95712
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabet... ORPHA:444490
Hypothyroidism, Hepatic steatosis, Gout, Acute pancreatitis, Diabetes mellitus, Hepatomegaly ORPHA:412
Thyroid Hypoplasia
Hypothyroidism, Jaundice, Thyroid hypoplasia ORPHA:95720
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Caroli Syndrome
Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarcinoma, Chola... ORPHA:480520
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Autoimmunity, Pancreatitis, Abnormality of thyroid physiology ORPHA:1830
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Citrullinemia Type Ii
Hepatic fibrosis, Vomiting, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, ... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Acute pancreatitis, Hypoglycemia, Hepatomegaly, Dysphagia, Hepatic periportal necrosis ORPHA:26791
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil antibody positivity, Glomerul... ORPHA:93126
Familial Mediterranean Fever
Diarrhea, Skin rash, Arthritis, Pancreatitis, Erysipelas, Pericarditis, Intestinal obstruction, C... ORPHA:342
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Enterocolitis, Diarrhea, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ul... ORPHA:79259
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Hypothyroidism, Thyroiditis, Pancreatitis, Pituitary adenoma, Neoplasm... ORPHA:733
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sc... ORPHA:562639
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Cystic Fibrosis
Meconium ileus, Biliary cirrhosis, Cirrhosis, Diarrhea, Bronchiectasis, Chronic sinusitis, Steato... OMIM:219700
Familial Multinodular Goiter
Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goiter, Sertoli cell neopla... ORPHA:276399
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody po... ORPHA:37042
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rh... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Autoimmune hypoparathyroidism, Biliary cirrhosis, Atrophic gastriti... ORPHA:227982
Rabson-Mendenhall Syndrome
Hypothyroidism, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Postprandi... ORPHA:769
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancreatitis ORPHA:280365
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Visceral Myopathy 1
Vomiting, Diarrhea, Constipation, Dysphagia, Pancreatitis, Gastroparesis OMIM:155310
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Jaundice, Nonketotic hypoglycemia, Episodic vomiting, Acute pancreatitis, Recurrent hyp... ORPHA:20
Igg4-Related Pachymeningitis
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Dysphagia, Pancreatitis ORPHA:449427
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Thyroid hypoplasia, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Ectopic... ORPHA:3047
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hepatomegaly, ... OMIM:248370
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Inflammatory abnormality of the eye, Autoimmunity, Pericarditis, Chronic ... ORPHA:900
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic fibrosis, Chilblains, Hepatosplenomegaly, Hepatic steatosis, Pericarditis... OMIM:619487
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Neoplasm of the pancreas, Pancreatitis ORPHA:370348
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis,... OMIM:124000
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Retroperitoneal fibrosis, Prostatitis, Inflammatory ... ORPHA:449395
Scorpion Envenomation
Hyperhidrosis, Vomiting, Diarrhea, Glycosuria, Acute pancreatitis, Hyperglycemia, Myocarditis ORPHA:466677
Behçet Disease
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pancreatitis,... ORPHA:117
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Hepatomegaly, Pancreatitis ORPHA:565612
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Igg4-Related Ophthalmic Disease
Retroperitoneal fibrosis, Prostatitis, Thyroiditis, Cholangitis, Sinusitis, Orchitis, Keratitis, ... ORPHA:449563
Osteomyelitis, Abnormality of the liver, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Mo... ORPHA:228123
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Peritonitis OMIM:134610
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Vomiting, Hepatomegaly ORPHA:3008
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Bloody diarrhea, Vomiting, Diarrhea, Diabetes mellitus, Pneumonia, Nausea, Secr... ORPHA:544482
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Hypothyroidism, Recurrent pancreatitis, Vomiting, Diarrhea, Type II diabetes mellitus, Type I dia... ORPHA:550
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... OMIM:232240
Multiple Endocrine Neoplasia, Type Iib
Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Medullary thyroid... OMIM:162300
Idiopathic Hypereosinophilic Syndrome
Vomiting, Erythroderma, Chronic diarrhea, Inflammatory abnormality of the skin, Arthritis, Pancre... ORPHA:3260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Vomiting, Diarrhea, Peritonitis, Acute colitis, Pancreatitis ORPHA:90038
Trichohepatoneurodevelopmental Syndrome
Hypothyroidism, Recurrent pancreatitis, Gastroesophageal reflux, Chronic diarrhea, Recurrent otit... OMIM:618268
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Abnormality of the liver, Hyperthyroidism, Diabetes mellitus, Goiter ORPHA:254892
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... OMIM:608594
Marburg Hemorrhagic Fever
Bloody diarrhea, Vomiting, Diarrhea, Skin rash, Arthritis, Jaundice, Uveitis, Pericarditis, Hypog... ORPHA:99826
Pten Hamartoma Tumor Syndrome
Thyroid adenoma, Multinodular goiter, Thyroid carcinoma ORPHA:306498
Stevens-Johnson Syndrome
Conjunctivitis, Diarrhea, Gastrointestinal hemorrhage, Dysphagia, Pancreatitis ORPHA:36426
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Cirrhosis, Vomiting, Decreased response to growth hormone stimulati... ORPHA:470
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Lysinuric Protein Intolerance
Splenomegaly, Vomiting, Diarrhea, Nausea, Hepatomegaly, Pancreatitis OMIM:222700
Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Insulin resistance, Recurrent infan... ORPHA:508
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormo... ORPHA:444077
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... OMIM:269700
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis, Gastrointestinal hemorrhage, Dysphagia ORPHA:537
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... ORPHA:293987
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Hyperhidrosis, Diarrhea, Hemoperitoneum, Erythema nodosum, Adrenal insufficiency,... ORPHA:99827
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... OMIM:600001
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Hepatic steatosis, Diabetes mellitus, In... ORPHA:79474
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Muckle-Wells Syndrome
Delayed puberty, Renal amyloidosis, Splenomegaly, Hepatomegaly ORPHA:575
Cowden Syndrome
Enlarged polycystic ovaries, Adenoma sebaceum, Neoplasm of the thyroid gland, Follicular thyroid ... ORPHA:201
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Follicular thyroid carcin... ORPHA:1359
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Vomiting, Hypoglycemia, Dysphagia, Hyperglycemia, Increased hep... OMIM:220111
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Vomiting, Diarrhea, Impaired glucose tolerance, Insulin resistance, Type ... OMIM:606721
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatic steatosis, Diabetes mellitus, Cholecystitis, Hepatomegaly ORPHA:98908
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, A... ORPHA:79078
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid, Hypohidrosis, Hyperhidrosis ORPHA:3206
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Yellow Fever
Vomiting, Diarrhea, Pancreatic hyperplasia, Skin rash, Jaundice, Acute pancreatitis, Nausea, Hema... ORPHA:99829
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypoplasia, Cryptorch... ORPHA:2166
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism ORPHA:861
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Pallister-Hall Syndrome
Precocious puberty, Gonadotropin deficiency, Decreased testicular size, Hypopituitarism, Thyroid ... ORPHA:672
Alström Syndrome
Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Decreased circula... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Thyroid hypoplasia, Hepatosplenomegaly, Sm... OMIM:619503
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Delayed puberty, Renal amyloidosis 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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