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, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus, Insulin resistance OMIM:612227
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:411593
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
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
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Type 1 Diabetes Mellitus
Hyperglycemia, Autoimmunity, Diabetes mellitus OMIM:222100
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis OMIM:613783
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Congenital Pancreatic Cyst
Pancreatitis, Vomiting, Jaundice ORPHA:313906
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Amyloidosis OMIM:204850
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 level, Central hypothyroidism, Thyroid hypoplasia, Inappropriately ... OMIM:301035
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia OMIM:608600
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Cardiac amyloidosis, Renal amyloidosis, Hepatic amyloidosis, ... ORPHA:314652
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Amyloidosis, Familial Visceral
Hepatomegaly, Generalized amyloid deposition, Cholestasis, Splenomegaly OMIM:105200
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Amyloidosis, Cholestasis, Hypothyroidism, Renal amyloidosis ORPHA:85445
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Cutaneous lichen amyloidosis, Increased circulating cortisol level, Medullary t... OMIM:171400
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter OMIM:180295
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Splenomegaly, Auto... ORPHA:444463
Chylous Ascites
Pancreatitis ORPHA:1160
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis OMIM:618230
Permanent Congenital Hypothyroidism
Goiter, Thyroid dysgenesis, Hypothyroidism, Jaundice ORPHA:226292
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Hypohidrosis OMIM:255900
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:319487
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism OMIM:274400
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmunity, Recurrent otitis media, Splenomegaly, Diarrhea, Autoimmune hemolytic ... OMIM:618495
Medullary Thyroid Carcinoma
Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyroid carcinoma, Primary hyperp... ORPHA:1332
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis OMIM:619386
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance OMIM:606721
Insulin-Resistance Syndrome Type B
Autoimmunity, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia... ORPHA:2298
Autoimmunity, Allergic rhinitis OMIM:131430
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... OMIM:260480
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:97290
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Thyroid Lymphoma
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism ORPHA:97285
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Diabetes mellitus, Hypothyroidism, Diarr... OMIM:614162
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... ORPHA:69663
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Graves Disease, Susceptibility To, 1
Goiter, Hyperhidrosis, Graves disease OMIM:275000
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... OMIM:604367
Pendred Syndrome
Thyroid carcinoma, Hyperparathyroidism, Goiter, Hypothyroidism ORPHA:705
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Xerostomia, Rheumatoid ar... OMIM:270150
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-cell hyperplasia, Cholest... OMIM:246200
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Goiter OMIM:613239
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism OMIM:617577
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Hepatomegaly, Pancreatitis, Hepatic steatosis OMIM:618805
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis, Vomiting OMIM:248600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... ORPHA:99832
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increa... ORPHA:727
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... ORPHA:226313
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Arthri... ORPHA:31205
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... ORPHA:163634
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Autoimmunity, Diabetes mellitus ORPHA:703
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Colitis, Minimal change glomerulonephritis OMIM:617006
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Rheumatoid factor positive, Splenomegaly, Crohn's disease, Hepatosplenomeg... OMIM:618935
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, AA amyloidosis, Hepatic amyloidosis OMIM:142680
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Diarrhea ORPHA:391673
Acquired Generalized Lipodystrophy
Hepatomegaly, Autoimmunity, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis... ORPHA:79086
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... ORPHA:79083
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Goiter, Hypothyroidism ORPHA:83601
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Congenital Hypothyroidism
Anterior hypopituitarism, Goiter, Hypogonadism, Abnormality of the thyroid gland, Hypothyroidism,... ORPHA:442
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pancreatitis, Pneumonia ORPHA:70578
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Rheumatoid arthritis, Antinuclear antibody positivity OMIM:178610
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:90970
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Arthritis, Splenomegal... ORPHA:465508
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Systemic lupus erythematosus, Arthritis, Malar rash, An... OMIM:152700
Propionic Acidemia
Hepatomegaly, Eczema, Hypoglycemia, Vomiting, Pancreatitis, Constipation OMIM:606054
Aapoaiv Amyloidosis
Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Diabetes mellitus, C... ORPHA:439232
Linear Iga Dermatosis
Autoimmunity, Inflammation of the large intestine ORPHA:46488
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthritis, Hypot... ORPHA:48377
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus OMIM:609069
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism OMIM:145001
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus ORPHA:2348
Familial Mediterranean Fever
Hepatomegaly, Peritonitis, Splenomegaly, Amyloidosis, Orchitis, Renal amyloidosis OMIM:249100
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Puberty and gonadal disorders, Splenomegaly... ORPHA:525731
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Autoimmunity, Inflammatory abnormality of the skin, Anti-thyroid peroxidase antibody p... ORPHA:277
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulating T4 le... ORPHA:90674
Immunodeficiency 22
Diarrhea, Autoimmunity, Panniculitis OMIM:615758
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Spl... ORPHA:231154
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Dysphagia, Type II diabetes mellitus, Pancreatitis, Iridocyclitis, Type I diabetes mellitus, Hypo... ORPHA:412057
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615108
Pemphigus Erythematosus
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... ORPHA:79480
Cach Syndrome
Dysphagia, Vomiting, Pancreatitis, Optic neuritis, Hepatosplenomegaly ORPHA:135
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis, Vomiting OMIM:251000
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity OMIM:609939
Q Fever
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Amyloidosis,... ORPHA:781
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Nausea, Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:399180
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hepatic steatosis, Acute pancre... OMIM:151660
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615109
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... ORPHA:549
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Infectious encephalitis, Vomiting, Lymphadenitis,... ORPHA:2552
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia OMIM:269880
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Amyloidosis, Splenomegaly ORPHA:98849
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Elevated circulating thyr... OMIM:218700
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ OMIM:616858
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Acute pancreatitis, ... ORPHA:319218
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Elevated circulating thyroid... ORPHA:209905
Primary Sclerosing Cholangitis
Hepatomegaly, Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, He... ORPHA:171
Hyperlipoproteinemia, Type I
Vomiting, Nausea, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Jaundice OMIM:238600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... ORPHA:228426
Systemic Capillary Leak Syndrome
Myocarditis, Diarrhea, Pericarditis, Pancreatitis ORPHA:188
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Vomiting, Hyperglycemia, Diarrhea ORPHA:134
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Cutaneous lichen amyloidosis, N... ORPHA:653
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid art... ORPHA:85414
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hypertension, Postprandial... ORPHA:440713
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... OMIM:158350
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis, Intermittent diarrhea OMIM:232200
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis, Hypohidrosis OMIM:301220
Mirizzi Syndrome
Gallbladder perforation, Vomiting, Nausea, Cholelithiasis, Pancreatitis, Cholesterol gallstones, ... ORPHA:521219
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Perianal abscess, Acute pancreatit... ORPHA:444490
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Thyroid Ectopia
Ectopic thyroid, Abnormality of the thyroid gland, Hypothyroidism, Jaundice ORPHA:95712
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Dia... ORPHA:73263
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Pancreatitis, Cytoplasmic antineutrophil antibody positivity, Cresc... ORPHA:93126
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Hepatomegaly, Gout, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypothyroidism ORPHA:412
Thyroid Hypoplasia
Thyroid hypoplasia, Hypothyroidism, Jaundice ORPHA:95720
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis OMIM:232220
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... ORPHA:99885
Salivary Duct Calculi
Parotitis OMIM:181010
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Congeni... ORPHA:480520
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Skin rash, Autoimmune hemolytic anemia ORPHA:90036
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis ORPHA:1830
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Pancreatitis, Hepatic steatos... ORPHA:247585
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... ORPHA:449395
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Intestinal obstruction, Skin ra... ORPHA:342
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Chronic oral candidiasis, Otitis media, Juvenile rheumatoid arthritis, Skin rash, H... ORPHA:275
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Dend Syndrome
Hyperglycemia, Vomiting ORPHA:79134
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dysphagia, Hypoglycemia, Vomiting, Acute pancreatitis, Hepatic periportal necrosis ORPHA:26791
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Inflammation of the large intestine, Hypoglycemia, Hepatocellular carcinoma, Increa... ORPHA:79259
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Tubulointerstitial nephritis, ... ORPHA:37042
Cystic Fibrosis
Hepatomegaly, Bronchiectasis, Chronic sinusitis, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Rec... OMIM:219700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia OMIM:248370
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabetic ketoacido... ORPHA:769
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmune hypoparathyroidism, Autoimmunity, Tubulointerstitial nephr... ORPHA:227982
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Biliary t... ORPHA:733
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Panhypopituitarism, Cryptorchidism, Decreased resp... OMIM:146510
Visceral Myopathy 1
Dysphagia, Vomiting, Gastroparesis, Pancreatitis, Diarrhea, Constipation OMIM:155310
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus ORPHA:280365
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Recurrent hypoglycemia, Acute pancreatitis, Nonk... ORPHA:20
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Thyroid hypoplasia, Hypothyroidism, Thyroid agenesis, Cryptorchidism, Thyroid dy... ORPHA:3047
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Uveitis, Rheumatoid arthritis, Antinuclear ant... ORPHA:85410
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Aplas... ORPHA:227990
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Acute pancre... OMIM:619487
Granulomatosis With Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Prostatitis, Chronic otitis media, Pancreatitis, Increased... ORPHA:900
Scorpion Envenomation
Myocarditis, Vomiting, Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis, Diarrhea ORPHA:466677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... ORPHA:226307
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Immunodeficiency 36
Chronic diarrhea, Autoimmunity, Splenomegaly, Bronchiectasis OMIM:616005
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmunity, Dysphagia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid arth... ORPHA:100026
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Constipation, Thyrotoxicosis with toxic multinod... ORPHA:79102
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Retroperitoneal fibrosis, Pancreatitis, Keratitis, Thyroidit... ORPHA:449563
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Autoimmunity, Interface hepatitis, Hematochezia, Autoimmune hemolytic an... OMIM:243150
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia, Vomiting ORPHA:3008
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Pneumonia, Vomiting, Nausea, Acute colitis, Pancreatitis, Septic ar... ORPHA:544482
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Pancreatitis, Splenomegaly, Diabetes mellitus ORPHA:565612
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Autoimmunity, Pneumon... ORPHA:183675
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Jaundice ORPHA:370348
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Hypoparathyroidism, Type II diabetes mellitus, Vomiting, Recurrent pancreatitis, Diabetes mellitu... ORPHA:550
Multiple Endocrine Neoplasia, Type Iib
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Parathyroid hyperplasia, Pheoch... OMIM:162300
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arth... ORPHA:228123
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Erythroderma, Portal fibros... ORPHA:3260
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Vomiting, Peritonitis, Acute colitis, Pancreatitis, Diarrhea ORPHA:90038
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Hepatoblastoma, Chronic pancreatitis OMIM:232240
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Familial Multinodular Goiter
Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neoplasm, Multinodular goiter ORPHA:276399
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Abnormality of the liver, Hyperthyroidism, Diabetes mellitus, Hypothyroidism ORPHA:254892
Marburg Hemorrhagic Fever
Bloody diarrhea, Pericarditis, Hypoglycemia, Vomiting, Nausea, Arthritis, Pancreatitis, Uveitis, ... ORPHA:99826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Infectious encephalitis, Hyperglycemia, Gonadotropin deficiency, Hypohidr... ORPHA:293987
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Recurrent infanti... ORPHA:508
Lysinuric Protein Intolerance
Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Membranous nephropathy, Decreased response ... ORPHA:470
Stevens-Johnson Syndrome
Dysphagia, Pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis ORPHA:36426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus ORPHA:371428
Pten Hamartoma Tumor Syndrome
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma ORPHA:306498
Lysinuric Protein Intolerance
Hepatomegaly, Vomiting, Nausea, Pancreatitis, Splenomegaly, Diarrhea OMIM:222700
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... OMIM:608594
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Crimean-Congo Hemorrhagic Fever
Myocarditis, Conjunctivitis, Adrenal insufficiency, Hepatomegaly, Hematemesis, Epididymitis, Mele... ORPHA:99827
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Biliary atresia, Diabetes m... OMIM:600001
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... OMIM:269700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Constipation, Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation tes... ORPHA:444077
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Dysphagia, Pancreatitis, Conjunctivitis ORPHA:537
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism, Constipation ORPHA:99880
Parathyroid Carcinoma
Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism, Constipation ORPHA:143
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Cowden Syndrome
Goiter, Adenoma sebaceum, Neoplasm of the thyroid gland, Follicular thyroid carcinoma, Abnormalit... ORPHA:201
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... ORPHA:79474
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Neutral Lipid Storage Myopathy
Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Diabetes mellitus, Cholecystitis ORPHA:98908
Carney Complex
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... ORPHA:1359
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Stüve-Wiedemann Syndrome
Ectopic thyroid, Hypohidrosis, Hypothyroidism, Hyperhidrosis ORPHA:3206
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Xerostomia, Retroperitoneal fibrosis, Nodular goiter, Abnorma... ORPHA:79078
Phace Syndrome
Ectopic thyroid, Hypothyroidism ORPHA:42775
Yellow Fever
Vomiting, Nausea, Hematemesis, Acute pancreatitis, Skin rash, Pancreatic hyperplasia, Diarrhea, J... ORPHA:99829
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Abnormality of the adrenal glands ORPHA:861
Holoprosencephaly-Postaxial Polydactyly Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Cryptorch... ORPHA:2166
Pallister-Hall Syndrome
Abnormal prolactin level, Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, ... ORPHA:672
Alström Syndrome
Hepatitis, Splenomegaly, Hepatosplenomegaly, Primary hypothyroidism, Portal hypertension, Type II... ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thyroid hypoplasia, Hepatic steatosis, Hepatosplenomegaly, Small pituitary gland, Cholestasis, Cr... OMIM:619503
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
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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