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Gene: Ctsb MGI:88561

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cathepsin B
Synonyms:
CB

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 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
phenotypes		 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
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... ORPHA:411593
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... OMIM:610582
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Anti-g... OMIM:616329
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Au... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia 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
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Essential Fructosuria
Hyperglycemia ORPHA:2056
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Hypoglycemia OMIM:620137
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Generalized amyloid deposition, Cholestasis OMIM:105200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Aa Amyloidosis
Hepatomegaly, Cholestasis, Amyloidosis, Renal amyloidosis, Adrenal insufficiency, Hypothyroidism ORPHA:85445
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Cutaneous lichen amyloidosis, Increased circulat... OMIM:171400
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:444463
Chylous Ascites
Pancreatitis ORPHA:1160
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Blepharochalasis And Double Lip
Goiter OMIM:109900
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... ORPHA:95715
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... OMIM:167800
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Hyperhidrosis, Pheochromocytom... ORPHA:1332
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... ORPHA:293964
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Pancreatitis, Hypoglycemia OMIM:619386
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular ... ORPHA:65682
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... ORPHA:2298
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Scler... ORPHA:69663
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Pendred Syndrome
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter ORPHA:705
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Maple Syrup Urine Disease
Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hy... OMIM:615710
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Hepatic steatosis, Pancreatitis OMIM:618805
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Fasting hypog... OMIM:246200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Gastrointestinal hemorrhage, Sinusitis, Pericardit... ORPHA:727
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatomegaly, Hepatic amyloidosis OMIM:142680
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... ORPHA:171
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... OMIM:618935
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Aapoaiv Amyloidosis
Diabetes mellitus, Renal interstitial amyloid deposits, Cutaneous amyloidosis, Renal amyloidosis,... ORPHA:439232
Dend Syndrome
Hyperglycemia, Autoimmune antibody positivity, Vomiting ORPHA:79134
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Constipation, Vomiting, Pancreatitis OMIM:606054
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Tubulointerstitial nephritis, Vomiting, Pancreatitis OMIM:251000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Autoimmunity, Minimal change glomerulonephritis OMIM:617006
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... ORPHA:79086
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Diabetic ketoacidosis, Pneumonia ORPHA:70578
Necrotizing Enterocolitis
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, ... ORPHA:562
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia OMIM:615954
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Pediatric-Onset Graves Disease
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... ORPHA:525731
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis ORPHA:135
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Familial Mediterranean Fever
Hepatomegaly, Orchitis, Splenomegaly, Peritonitis, Amyloidosis, Renal amyloidosis OMIM:249100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Arthritis... ORPHA:465508
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Hypot... ORPHA:48377
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Hypothyroidism, Pa... ORPHA:412057
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Pituitary hypothyroidism, Prolonged ... ORPHA:90674
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Cole Disease
Hyperglycemia OMIM:615522
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Vomiting, Hypoglycemia OMIM:615453
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... ORPHA:2088
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hyperglycemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Amyloidosis, Abnormality of the liver,... ORPHA:781
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Vomiting, Infectious ... ORPHA:2552
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Intermittent di... OMIM:232200
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, Glycosuria, Hypergl... ORPHA:99885
Legionnaires Disease
Pericarditis, Myocarditis, Diarrhea, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Infectious ... ORPHA:549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Amyloidosis ORPHA:98849
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Cutaneou... ORPHA:653
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Hypohidrosis OMIM:301220
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea, Postprandial... ORPHA:440713
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Diarrhea ORPHA:188
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large in... OMIM:232220
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Diarrhea, Vomiting, Hyperglycemia ORPHA:134
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Mirizzi Syndrome
Nausea, Jaundice, Gallbladder perforation, Vomiting, Cholesterol gallstones, Cholelithiasis, Abno... ORPHA:521219
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... ORPHA:85414
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroid peroxidase antibody p... ORPHA:228426
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Thyroid Ectopia
Abnormality of the thyroid gland, Jaundice, Hypothyroidism, Ectopic thyroid ORPHA:95712
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Infectious encephalitis, Nep... ORPHA:73263
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Thyroid Hypoplasia
Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis ORPHA:412
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis ORPHA:1830
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, C... ORPHA:480520
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Citrullinemia Type Ii
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Vomiting, Dysphagia, Hepatic periportal necrosis ORPHA:26791
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Biliary cirrh... OMIM:219700
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Goiter, Pituitar... ORPHA:733
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Diarrhea, Enterocolitis, Gout, Ulcerative colitis,... ORPHA:79259
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227990
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... ORPHA:342
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... ORPHA:37042
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroi... ORPHA:227982
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:280365
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Diarrhea, Jaundice, Lipid accumulation... ORPHA:20
Visceral Myopathy 1
Gastroparesis, Diarrhea, Constipation, Vomiting, Dysphagia, Pancreatitis OMIM:155310
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Intestinal... ORPHA:900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... ORPHA:449395
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertensio... OMIM:619487
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulointerstitial neph... OMIM:124000
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... ORPHA:117
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis ORPHA:565612
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Hyperglycemia ORPHA:466677
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the large... OMIM:232240
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Keratitis, Orchitis, Antinuclear antibody positivity, Retroperitoneal fib... ORPHA:449563
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis OMIM:134610
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Myocarditis, Diarrhea, Pancreatitis, Secretory diarrhea, Bloody dia... ORPHA:544482
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Melas
Hypoparathyroidism, Diabetes mellitus, Diarrhea, Vomiting, Recurrent pancreatitis, Constipation, ... ORPHA:550
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Vomiting, Hypoglycemia ORPHA:3008
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic diarrhea, Dyspha... ORPHA:3260
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Recurrent pancreatitis, St... OMIM:618268
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Pancreatitis, Acute colitis ORPHA:90038
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Abnormality of the liver, Hypothyroidism, Goiter ORPHA:254892
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Lysinuric Protein Intolerance
Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Antinucl... ORPHA:470
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... OMIM:608594
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Dysphagia, Pancreatitis ORPHA:36426
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Marburg Hemorrhagic Fever
Pericarditis, Maculopapular exanthema, Skin rash, Hypoglycemia, Orchitis, Pancreatitis, Diarrhea,... ORPHA:99826
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Vomiting, Pancreatitis OMIM:222700
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, R... ORPHA:508
Glycerol Kinase Deficiency
Episodic vomiting, Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis OMIM:307030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Constipation, Gastroesophageal reflux, Asp... ORPHA:444077
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Pancreatitis, Dysphagia ORPHA:537
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell... OMIM:269700
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis ORPHA:99880
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Hematemesis, Diarrhea, Epididymitis, Myocardi... ORPHA:99827
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis ORPHA:143
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Atypical Werner Syndrome
Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... ORPHA:79474
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden... ORPHA:201
Muckle-Wells Syndrome
Splenomegaly, Hepatomegaly, Renal amyloidosis, Delayed puberty ORPHA:575
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Vomiting... OMIM:220111
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis ORPHA:98908
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Diarrhea, Insulin resistance, Glucose intolerance, Recurrent pancreat... OMIM:606721
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Enlargement of parot... ORPHA:79078
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Yellow Fever
Acute pancreatitis, Skin rash, Hematemesis, Diarrhea, Jaundice, Pancreatic hyperplasia, Vomiting,... 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, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia 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
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Alström Syndrome
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Hepatic fibrosis,... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Portal hypertension, Cryptorchidism, Chole... 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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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