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Gene: Ctsc MGI:109553

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cathepsin C

Synonyms:

DPP1, DPPI, dipeptidylpeptidase 1

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 Ctsc 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.

Human diseases associated with Ctsc (4 diseases)
Human diseases predicted to be associated with Ctsc (481 diseases)

The table below shows human diseases associated to Ctsc by orthology or direct annotation.

Disease	Matching phenotypes	Source
Haim-Munk Syndrome	Recurrent bacterial skin infections	OMIM:245010
Papillon-Lefèvre Syndrome	Chronic furunculosis, Recurrent cutaneous abscess formation, Liver abscess, Recurrent respiratory...	ORPHA:678
Periodontitis, Aggressive, 1		OMIM:170650
Papillon-Lefevre Syndrome		OMIM:245000

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

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased...	OMIM:616740
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Weight loss, Decreased circ...	ORPHA:33355
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Immunodeficiency 66	Defective T cell proliferation, Sepsis	OMIM:618847
Galactose Mutarotase Deficiency	Sepsis, Failure to thrive, Hypergalactosemia	ORPHA:570422
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Failure to thrive, Decreased proportion of naive T cells, Ab...	ORPHA:276
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Rec...	OMIM:226990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop...	OMIM:618986
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Immunodeficiency 18	Defective T cell proliferation	OMIM:615615
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination...	OMIM:308230
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis	OMIM:619599
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Recurrent infections, D...	OMIM:615122
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up...	OMIM:616100
C1Q Deficiency 2	Elevated circulating C-reactive protein concentration, Sepsis, Recurrent otitis media, Recurrent ...	OMIM:620321
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of neutrophi...	ORPHA:229717
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Bullous Impetigo	Recurrent bacterial skin infections, Sepsis	ORPHA:36237
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Weight loss...	ORPHA:47
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia, ...	ORPHA:33110
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Sepsis	ORPHA:464370
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, ...	OMIM:602450
Netherton Syndrome	Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Hypereosino...	OMIM:256500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Felty Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Thro...	ORPHA:47612
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Anemia	ORPHA:289916
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, C...	OMIM:614700
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-react...	OMIM:614034
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Acute Lung Injury	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:178320
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se...	OMIM:300755
Alg1-Cdg	Hypoalbuminemia, Sepsis, Recurrent infections	ORPHA:79327
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
Selective Igm Deficiency	Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio...	ORPHA:331235
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Sepsis, Hyperglycinemia	OMIM:619059
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Cog4-Cdg	Neonatal sepsis, Failure to thrive in infancy, Recurrent upper respiratory tract infections, Hepa...	ORPHA:263501
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Weight loss, Recurrent infections	ORPHA:764
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Hyperammonemia, Recurrent infections, Hyperalaninemia, Failure to thrive	OMIM:614739
Immunodeficiency 68	Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Se...	ORPHA:247353
Acquired Purpura Fulminans	Thrombocytopenia, Sepsis, Elevated circulating C-reactive protein concentration	ORPHA:49566
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Sepsis	ORPHA:163921
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Hyperammonemia, Leukopeni...	ORPHA:292
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, ...	ORPHA:293978
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S...	ORPHA:169090
Omenn Syndrome	Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymphocyte morpholo...	ORPHA:39041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach...	ORPHA:37042
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up...	ORPHA:183675
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr...	OMIM:617303
Wiskott-Aldrich Syndrome	Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on...	OMIM:301000
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Increased circulating IgG level, Inc...	OMIM:209950
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sepsis, Leukop...	ORPHA:36238
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Secondary Short Bowel Syndrome	Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Failure to thrive	ORPHA:95427
Tuberculosis	Weight loss	ORPHA:3389
Sporadic Creutzfeldt-Jakob Disease	Sepsis, Recurrent infections	ORPHA:204
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Recurre...	OMIM:617053
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le...	ORPHA:811
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Recurrent tonsillitis, Sepsis, Decreased eosinophil count, ...	ORPHA:2686
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopeni...	OMIM:612541
Ebola Hemorrhagic Fever	Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia	ORPHA:319218
Calciphylaxis	Hyperphosphatemia, Sepsis	ORPHA:280062
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Failure to thrive, Partial absence of specific an...	ORPHA:79324
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis	OMIM:260570
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Sepsis, Hyperbilirubinemia, Decreased b...	OMIM:614886
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill...	OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Sepsis	ORPHA:544503
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Se...	ORPHA:199299
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Meningococcal Meningitis	Sepsis, Elevated circulating C-reactive protein concentration	ORPHA:33475
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop...	ORPHA:507
Chronic Bilirubin Encephalopathy	Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529799
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Classic Galactosemia	Abnormal erythrocyte enzyme level, Sepsis	ORPHA:79239
Necrotizing Enterocolitis	Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytop...	ORPHA:391673
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Desmoid Tumor	Sepsis	ORPHA:873
Legionnaires Disease	Hyponatremia, Recurrent pharyngitis, Splenomegaly, Sepsis, Bone marrow hypocellularity, Lymphopenia	ORPHA:549
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Abscess, ...	ORPHA:36234
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Small for gestational age, El...	ORPHA:90051
Chronic Granulomatous Disease	Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Splenomegaly, Sepsis	ORPHA:379
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Recurrent infections, Decreased circulating antibody level, Hypoalbuminemia, Failure to t...	ORPHA:79396
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Lamellar Ichthyosis	Recurrent respiratory infections, Sepsis	ORPHA:313
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Recurrent infections	ORPHA:704
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula...	ORPHA:505248
Infant Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70587
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight l...	ORPHA:3226
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Leukocytosis, Sepsis, Abnormal blood ion con...	ORPHA:810
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Stevens-Johnson Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Weight lo...	ORPHA:36426
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Inhalational Anthrax	Sepsis	ORPHA:247257
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Sep...	ORPHA:94093
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Ménétrier Disease	Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop...	ORPHA:2494
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, ...	ORPHA:90362
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level, Chronic oral candid...	ORPHA:723
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Sepsis	ORPHA:247691
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc...	ORPHA:171876
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Thrombocytopenia, Sepsis, Weight loss, Neutropenia, Anemia	ORPHA:537
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Chronic Hiccup	Weight loss	ORPHA:396
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Pfapa Syndrome	Splenomegaly, Recurrent pharyngitis, Weight loss	ORPHA:42642
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Sepsis, Polys...	OMIM:619418
Melioidosis	Brain abscess, Liver abscess, Lung abscess, Abnormality of the spleen, Sepsis, Splenic abscess, C...	ORPHA:31202
Scedosporiosis	Sepsis	ORPHA:449280
Bullous Pemphigoid	Weight loss, Recurrent infections	ORPHA:703
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic an...	ORPHA:906
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, Hepatosplenomegaly, Inc...	ORPHA:98850
Isaacs Syndrome	Weight loss	ORPHA:84142
Ventilator-Induced Diaphragmatic Dysfunction	Sepsis	ORPHA:505395
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss	ORPHA:86893
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:90003
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca...	ORPHA:2968
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Endove Syndrome, Limb-Only Type	Neonatal sepsis	OMIM:619217
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Mulibrey Nanism	Cachexia	ORPHA:2576
Caroli Syndrome	Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Sepsis, Leukopenia, Hy...	ORPHA:480520
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent cut...	ORPHA:477
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function	ORPHA:277
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Neonatal sepsis, Hyperkalemia	ORPHA:90790
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Rat-Bite Fever	Sepsis, Anemia, Weight loss	ORPHA:31205
Radiation Proctitis	Rectal abscess, Sepsis	ORPHA:70475
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Microsporidiosis	Brain abscess, Cachexia, Abnormality of the spleen, Decreased proportion of CD4-positive helper T...	ORPHA:2552
Idiopathic Bronchiectasis	Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Sepsis	OMIM:619362
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Elevated cir...	OMIM:301074
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Orotic Aciduria	Reduced orotidine 5-prime phosphate decarboxylase level, Impaired T cell function	OMIM:258900
Huntington Disease-Like 2	Weight loss	OMIM:606438
Moynahan Syndrome	Cachexia	ORPHA:2574
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Follicular Lymphoma	Splenomegaly, Weight loss	ORPHA:545
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Listeriosis	Brain abscess, Liver abscess, Abscess, Abnormal cellular immune system morphology, Sepsis, Hepati...	ORPHA:533
Liver Disease, Severe Congenital	Hyponatremia, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr...	OMIM:619991
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent urinary tract infections, Sepsis, Abnormal blood ion concentration, Pyoderma, Failure t...	ORPHA:79404
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Impaired T cell function, Decreased specific anti-polysaccharide a...	OMIM:614576
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum...	ORPHA:420741
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Weight loss	ORPHA:391
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Viral hepatitis, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Sepsis	ORPHA:2241
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Nocardiosis	Brain abscess, Liver abscess, Sepsis, Weight loss, Cutaneous abscess	ORPHA:31204
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Hyperalaninemia, Cachexia, Weight loss	ORPHA:298
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Currarino Syndrome	Perianal abscess, Recurrent urinary tract infections, Sepsis	OMIM:176450
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Cryptococcosis	Lymphoid leukemia, Sepsis	ORPHA:1546
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia, Weight loss	ORPHA:79242
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym...	OMIM:614162
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Decreased c...	ORPHA:99867
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Recurrent pneumonia, Sepsis	ORPHA:158668
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentration, H...	ORPHA:42
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Pleural Mesothelioma	Weight loss	ORPHA:50251
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Cystic Echinococcosis	Abscess, Eosinophilia, Weight loss, Increased circulating antibody level, Hyperbilirubinemia, Spl...	ORPHA:400
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi...	ORPHA:77297
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Weight loss, Hepatosplenomegaly, Hypoalbumi...	OMIM:619487
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation...	ORPHA:572
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Sepsis, Recurrent infections, Recurrent lower respiratory tract infect...	ORPHA:363611
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Recurrent infections, Weight loss...	ORPHA:361
Perry Syndrome	Weight loss	ORPHA:178509
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Failure to ...	OMIM:212750
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Elevated circulating C-re...	OMIM:619381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Wolman Disease	Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells	ORPHA:75233
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss	ORPHA:83469
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormality of body weight, Increased circulating IgA l...	ORPHA:2298
Postinfectious Vasculitis	Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration...	ORPHA:48435
Menkes Disease	Sepsis	ORPHA:565
Mcdonough Syndrome	Cachexia	ORPHA:2471
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Weight los...	ORPHA:91139
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Anemia	ORPHA:520
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Low alkaline phosphatase, Impaired T cell function	OMIM:201100
Peripheral Primitive Neuroectodermal Tumor	Anemia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentratio...	ORPHA:370348
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia	ORPHA:702
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:95409
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Castleman Disease	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:160
Christianson Syndrome	Cachexia	ORPHA:85278
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Weight loss	ORPHA:2126
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Weig...	ORPHA:465508
Kaposi Sarcoma	Abnormality of the spleen, Weight loss	ORPHA:33276
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Cap Polyposis	Weight loss	ORPHA:160148
Liposarcoma	Weight loss	ORPHA:69078
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Osteosarcoma	Weight loss	ORPHA:668
Thymic Carcinoma	Weight loss	ORPHA:99868
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Polymyositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
Renpenning Syndrome	Cachexia	ORPHA:3242
Cronkhite-Canada Syndrome	Anemia, Splenomegaly, Cachexia	ORPHA:2930
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure to thrive	ORPHA:354
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss	ORPHA:2905
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Osteootohepatoenteric Syndrome	Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure to thrive, Anemia	OMIM:619377
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulating antib...	ORPHA:284
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytopenia, S...	OMIM:615846
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c...	ORPHA:53035
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Cachexia	ORPHA:217346
Brucellosis	Liver abscess, Small for gestational age, Lung abscess, Elevated circulating C-reactive protein c...	ORPHA:1304
Purine Nucleoside Phosphorylase Deficiency	Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in...	OMIM:613179
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Sepsis, Anemia, Neutropenia	ORPHA:95455
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Primary Hepatic Neuroendocrine Carcinoma	Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We...	ORPHA:100085
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated l...	ORPHA:275761
Malt Lymphoma	Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Q Fever	Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Weight loss, Granuloma, Increased circulating...	ORPHA:781
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Weight loss...	ORPHA:171
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation	ORPHA:66628
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Hereditary Orotic Aciduria	Impaired T cell function	ORPHA:30
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation	ORPHA:179494
Tetrasomy 12P	Cachexia	ORPHA:884
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Nephroblastoma	Weight loss	ORPHA:654
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity	OMIM:242700
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Infantile Krabbe Disease	Failure to thrive, Cachexia, Recurrent infections	ORPHA:206436
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Yao Syndrome	Weight loss	OMIM:617321
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Plague	Splenomegaly, Sepsis	ORPHA:707
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology	ORPHA:1830
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Failure to thrive, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia	ORPHA:99646
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss	ORPHA:33577
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Perry Syndrome	Weight loss	OMIM:168605
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun...	ORPHA:647
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Hennekam-Beemer Syndrome	Mastocytosis, Failure to thrive	ORPHA:2135
Juvenile Dermatomyositis	Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p...	ORPHA:93672
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Oromandibular Dystonia	Weight loss	ORPHA:93958
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Fatal Familial Insomnia	Weight loss	OMIM:600072
Whipple Disease	Hyponatremia, Splenomegaly, Anemia, Cachexia	ORPHA:3452
Giant Cell Arteritis	Recurrent pharyngitis, Weight loss	ORPHA:397
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:1018
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Budd-Chiari Syndrome	Splenomegaly, Weight loss	ORPHA:131
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Short Syndrome	Weight loss	ORPHA:3163
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Granulomatosis, Elevated circulating C-reactive protein concent...	ORPHA:900
Polycythemia Vera	Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Weight los...	ORPHA:50918
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased circula...	ORPHA:79078
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Familial Colorectal Cancer Type X	Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Klatskin Tumor	Weight loss	ORPHA:99978
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Weight loss, Increased circulating ...	OMIM:181000
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia, Cachexia	ORPHA:79076
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Rett Syndrome	Cachexia	OMIM:312750
Mucolipidosis Type Ii	Hepatosplenomegaly, Recurrent respiratory infections, Splenomegaly, Weight loss	ORPHA:576
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Reactive Arthritis	Recurrent urinary tract infections, Weight loss	ORPHA:29207
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Pulmonary Alveolar Microlithiasis	Abnormal circulating calcium concentration, Increased circulating surfactant protein level, Abnor...	ORPHA:60025
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c...	ORPHA:3337
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Hermansky-Pudlak Syndrome	Neutropenia, Weight loss	ORPHA:79430
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrogen, Hypophosph...	OMIM:219800
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Peritoneal abscess, Weight loss	ORPHA:1333
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Lynch Syndrome	Weight loss	ORPHA:144
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Weight loss, Anem...	ORPHA:84
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:2020
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss	ORPHA:97282
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Glucagonoma	Acanthocytosis, Normochromic anemia, Hypercalcemia, Weight loss	ORPHA:97280
Erdheim-Chester Disease	Anemia, Weight loss	ORPHA:35687
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Decreased body weight	ORPHA:800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85408
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Parathyroid Carcinoma	Weight loss, Hypercalcemia, Hypophosphatemia	ORPHA:143
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Tropical Pancreatitis	Weight loss	ORPHA:103918
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Trisomy 18	Cachexia	ORPHA:3380
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight l...	ORPHA:797
Seckel Syndrome	Cachexia	ORPHA:808
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Truncal ...	ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive	ORPHA:90794
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Chronic Graft Versus Host Disease	Pancytopenia, Weight loss, Recurrent infections	ORPHA:99921
22Q11.2 Deletion Syndrome	Impaired T cell function	ORPHA:567
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:2072
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Hypoalbu...	ORPHA:75565
Behçet Disease	Splenomegaly, Weight loss	ORPHA:117
Cockayne Syndrome	Splenomegaly, Hyperuricemia, Cachexia	ORPHA:191
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Weight loss	ORPHA:652
Stickler Syndrome	Recurrent respiratory infections, Slender build, Cachexia	ORPHA:828
Proteus Syndrome	Thymus hyperplasia, Cachexia, Splenomegaly, Recurrent infections, Gray matter heterotopia	ORPHA:744
Goodpasture Syndrome	Weight loss, Anemia, Increased blood urea nitrogen	OMIM:233450
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Weight loss	ORPHA:3385
Digeorge Syndrome	Impaired T cell function	OMIM:188400
Pmm2-Cdg	Reduced thyroxin-binding globulin, Failure to thrive, Hypoalbuminemia, Impaired neutrophil chemot...	ORPHA:79318
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Haim-Munk Syndrome	Recurrent bacterial skin infections	OMIM:245010
Papillon-Lefèvre Syndrome	Chronic furunculosis, Recurrent cutaneous abscess formation, Liver abscess, Recurrent respiratory...	ORPHA:678
Periodontitis, Aggressive, 1		OMIM:170650
Papillon-Lefevre Syndrome		OMIM:245000

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 Ctsc

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 Ctsc.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ctsc^{tm270311(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctsc^{tm50706(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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