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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 (488 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	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Chronic f...	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	Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Failure to thrive...	OMIM:616740
Reticular Dysgenesis	Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T...	OMIM:267500
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Reticular Dysgenesis	Sepsis, Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss,...	ORPHA:33355
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 102	Sepsis, Anemia, Recurrent lower respiratory tract infections, Partial absence of specific antibod...	OMIM:301082
Immunodeficiency 66	Defective T cell proliferation, Sepsis	OMIM:618847
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Decreased proportion of CD3-posi...	ORPHA:276
Galactose Mutarotase Deficiency	Failure to thrive, Sepsis, Hypergalactosemia	ORPHA:570422
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ...	OMIM:618986
Immunodeficiency 32B	Anemia, Recurrent infections, Abnormal circulating IgG level, Eosinophilia, Failure to thrive, Ne...	OMIM:226990
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Re...	OMIM:612783
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Sepsis, Dysgammaglobulinemia, Recurrent lower respiratory tract infecti...	OMIM:308230
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Sepsis, Recurrent upper respiratory tract infections	OMIM:619599
Lymphoproliferative Syndrome 2	Aplastic anemia, Sepsis, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased circulat...	OMIM:615122
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,...	OMIM:243700
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Failure to thrive, Recurrent pneumonia, Thrombocytopenia,...	OMIM:617475
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Decreased circ...	OMIM:616100
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Chronic mucocu...	OMIM:614868
C1Q Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Recurrent lower respiratory tract infections, Elevated ci...	OMIM:620321
Isolated Agammaglobulinemia	Sepsis, Anemia, Abnormal lymphocyte morphology, Failure to thrive, Thrombocytopenia, Recurrent cu...	ORPHA:229717
Bullous Impetigo	Sepsis, Recurrent bacterial skin infections	ORPHA:36237
X-Linked Agammaglobulinemia	Sepsis, Anemia, Hypocalcemia, Failure to thrive, Recurrent pneumonia, Thrombocytopenia, Weight lo...	ORPHA:47
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Recurrent infections, Failure to thrive, Agammaglobulin...	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, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Netherton Syndrome	Sepsis, Increased circulating IgE level, Decreased circulating IgG level, Failure to thrive, Recu...	OMIM:256500
Idiopathic Achalasia	Decreased circulating prealbumin concentration, Weight loss	ORPHA:930
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Pancytopenia, Recurrent infections, ...	OMIM:614700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Sepsis, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, Lymphopenia...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Recurrent candida infections, Sepsis, Recurrent lower respiratory tr...	ORPHA:436159
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Felty Syndrome	Sepsis, Anemia, Recurrent pharyngitis, Recurrent infections, Recurrent urinary tract infections, ...	ORPHA:47612
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Heme Oxygenase 1 Deficiency	Sepsis, Increased circulating ferritin concentration, Increased circulating interleukin 6 concent...	OMIM:614034
Acute Lung Injury	Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr...	ORPHA:178320
Agammaglobulinemia, X-Linked	Sepsis, Recurrent otitis media, Pyoderma, Recurrent lower respiratory tract infections, Decreased...	OMIM:300755
Alg1-Cdg	Recurrent infections, Hypoalbuminemia, Sepsis	ORPHA:79327
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Neutrophilia	OMIM:266265
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf...	OMIM:619374
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Recurrent vulvovaginal candidiasis, Decreased propo...	ORPHA:331235
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Sepsis, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis, Rec...	OMIM:612840
Cog4-Cdg	Neonatal sepsis, Recurrent infection of the gastrointestinal tract, Thrombocytopenia, Hepatosplen...	ORPHA:263501
Pyomyositis	Sepsis, Recurrent infections, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Recurrent infections, Hyperalaninemia, Hyperammonemia, Failure to thrive	OMIM:614739
Immunodeficiency 68	Sepsis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia, Abscess	OMIM:612260
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr...	ORPHA:70578
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulatin...	ORPHA:293978
Generalized Pustular Psoriasis	Sepsis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hypona...	ORPHA:247353
Acquired Purpura Fulminans	Sepsis, Thrombocytopenia, 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	Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Sepsis	ORPHA:163921
Congenital Enterovirus Infection	Sepsis, Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombo...	ORPHA:292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Abnormal blood ion concentration, Sepsis, Iron deficiency anemia, Re...	ORPHA:37042
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Omenn Syndrome	Sepsis, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Failure to thrive, Splenomegaly, Eo...	ORPHA:39041
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, Thrombocyto...	ORPHA:169090
Staphylococcal Necrotizing Pneumonia	Sepsis, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Leukop...	ORPHA:36238
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl...	OMIM:209950
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Sepsis, Recurrent otitis media, Liver abscess, Recurrent lower respiratory tract infections, Recu...	ORPHA:183675
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Anemia, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased cir...	OMIM:617303
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec...	OMIM:301000
Secondary Short Bowel Syndrome	Sepsis, Failure to thrive, Weight loss, Abnormal blood ion concentration, Low plasma citrulline	ORPHA:95427
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Weight loss	ORPHA:100083
Mirage Syndrome	Hyperkalemia, Sepsis, Anemia, Recurrent urinary tract infections, Decreased body weight, Hyponatr...	OMIM:617053
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level, Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis	ORPHA:204
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Leukopenia,...	ORPHA:811
Immunodeficiency 59 And Hypoglycemia	Sepsis, Recurrent lower respiratory tract infections, Decreased proportion of class-switched memo...	OMIM:233600
Avian Influenza	Sepsis, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:454836
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sepsis, Neonatal sepsis, Anemia, Recurrent lower respiratory tract infections, ...	OMIM:612541
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Cyclic Neutropenia	Perianal abscess, Sepsis, Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Throm...	ORPHA:2686
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Lassa Fever	Sepsis, Increased circulating IgM level	ORPHA:99824
Calciphylaxis	Sepsis, Hyperphosphatemia	ORPHA:280062
Immunodeficiency 108 With Autoinflammation	Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Alg12-Cdg	Sepsis, Recurrent pharyngitis, Partial absence of specific antibody response to Haemophilus influ...	ORPHA:79324
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233710
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Sepsis, Decreased body weight, Elevated circulating long chain fatty acid con...	OMIM:614886
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Sepsis	ORPHA:544503
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Recurrent tonsillitis, Recurrent infections, Onychomycosis, Granuloma, Recurren...	OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233690
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Failure to thrive, Hyp...	ORPHA:199299
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Leishmaniasis	Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko...	ORPHA:507
Meningococcal Meningitis	Sepsis, Elevated circulating C-reactive protein concentration	ORPHA:33475
Whim Syndrome	Sepsis, Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Recurr...	ORPHA:51636
Chronic Bilirubin Encephalopathy	Neonatal sepsis, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Neonatal sepsis, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolytic anemia	ORPHA:529799
Mast Cell Sarcoma	Splenomegaly, Weight loss, Mastocytosis	ORPHA:66661
Classic Galactosemia	Sepsis, Abnormal erythrocyte enzyme concentration or activity	ORPHA:79239
Desmoid Tumor	Sepsis	ORPHA:873
Legionnaires Disease	Sepsis, Recurrent pharyngitis, Bone marrow hypocellularity, Hyponatremia, Splenomegaly, Lymphopenia	ORPHA:549
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,...	ORPHA:167
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Chronic Granulomatous Disease	Sepsis, Liver abscess, Splenomegaly, Recurrent respiratory infections, Abnormality of neutrophils	ORPHA:379
Bacterial Toxic-Shock Syndrome	Sepsis, Hypocalcemia, Recurrent urinary tract infections, Increased circulating myelocyte count, ...	ORPHA:36234
Sepsis In Premature Infants	Neonatal sepsis, Anemia, Increased circulating interleukin 6 concentration, Elevated circulating ...	ORPHA:90051
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Sepsis, Anemia, Recurrent infections, Decreased circulating antibody level, Failure to thrive, Hy...	ORPHA:79396
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce...	OMIM:240500
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Lamellar Ichthyosis	Sepsis, Recurrent respiratory infections	ORPHA:313
Necrotizing Enterocolitis	Neonatal sepsis, Leukocytosis, Hyponatremia, Thrombocytopenia, Small for gestational age, Neutrop...	ORPHA:391673
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Weight loss	ORPHA:90003
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,...	OMIM:615615
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent...	OMIM:214500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulati...	ORPHA:505248
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Sepsis, Decreased CD4:CD8 ratio, Elevated circ...	OMIM:619573
Infant Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70587
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:306400
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Bone marrow...	ORPHA:3226
Shigellosis	Sepsis, Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic...	ORPHA:810
Developmental And Epileptic Encephalopathy 111	Polymicrogyria, Sepsis, Recurrent respiratory infections	OMIM:620504
Stevens-Johnson Syndrome	Sepsis, Anemia, Thrombocytopenia, Weight loss, Recurrent respiratory infections, Abnormality of n...	ORPHA:36426
Inhalational Anthrax	Sepsis	ORPHA:247257
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Weight loss, Abnormal neutrophil ...	ORPHA:723
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Weigh...	ORPHA:54251
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Decreased circulating antibod...	ORPHA:90362
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Neuroleptic Malignant Syndrome	Hyperkalemia, Sepsis, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentra...	ORPHA:94093
Toxic Epidermal Necrolysis	Sepsis, Anemia, Thrombocytopenia, Weight loss, Recurrent respiratory infections, Neutropenia	ORPHA:537
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Helicobacter pylori infection, Hypoa...	ORPHA:2494
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Increased circulating renin level, Hyponatremia, Recurrent u...	ORPHA:171876
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Sepsis, Elevated circulating creatinine concentration, Normochromic anemia	ORPHA:247691
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto...	ORPHA:2902
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:607594
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight...	ORPHA:2070
Indolent Systemic Mastocytosis	Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis	ORPHA:98848
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6...	OMIM:300853
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Chronic Hiccup	Weight loss	ORPHA:396
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Melioidosis	Lung abscess, Sepsis, Liver abscess, Splenic abscess, Abnormality of the spleen, Cutaneous absces...	ORPHA:31202
Wiskott-Aldrich Syndrome	Acute leukemia, Sepsis, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypop...	ORPHA:906
Pfapa Syndrome	Splenomegaly, Recurrent pharyngitis, Weight loss	ORPHA:42642
Scedosporiosis	Sepsis	ORPHA:449280
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Sepsis, Anemia, Accessory spleen, Failure to thrive, Splenomegaly, Failure ...	OMIM:619418
Ventilator-Induced Diaphragmatic Dysfunction	Sepsis	ORPHA:505395
Isaacs Syndrome	Weight loss	ORPHA:84142
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan...	OMIM:613470
Cryptogenic Organizing Pneumonia	Neutrophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss	OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:613662
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss	ORPHA:86893
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Idiopathic Bronchiectasis	Cachexia, Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Caroli Syndrome	Sepsis, Liver abscess, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated...	ORPHA:480520
Mulibrey Nanism	Cachexia	ORPHA:2576
Endove Syndrome, Limb-Only Type	Neonatal sepsis	OMIM:619217
Leukocyte Adhesion Deficiency	Chronic oral candidiasis, Sepsis, Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis...	ORPHA:2968
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Rat-Bite Fever	Sepsis, Anemia, Weight loss	ORPHA:31205
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function	ORPHA:277
Kid Syndrome	Recurrent candida infections, Sepsis, Recurrent bacterial skin infections, Failure to thrive, Rec...	ORPHA:477
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia, Neonatal sepsis, Failure to thrive	ORPHA:90790
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve...	OMIM:601859
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Sepsis	OMIM:619362
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Microsporidiosis	Sepsis, Cachexia, Bronchiolitis, Decreased proportion of CD4-positive helper T cells, Abnormality...	ORPHA:2552
Bullous Pemphigoid	Recurrent infections, Weight loss	ORPHA:703
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Recurrent respiratory infections, Anemia, Weight loss	ORPHA:1842
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,...	OMIM:619774
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
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
Follicular Lymphoma	Splenomegaly, Weight loss	ORPHA:545
Pemphigus Vulgaris	Recurrent infections, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Listeriosis	Sepsis, Liver abscess, Splenic abscess, Abnormal cellular immune system morphology, Hepatic granu...	ORPHA:533
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:829
Polyarteritis Nodosa	Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:767
Liver Disease, Severe Congenital	Sepsis, Recurrent otitis media, Anemia, Lymphocytosis, Recurrent urinary tract infections, Hyperb...	OMIM:619991
Radiation Proctitis	Rectal abscess, Sepsis	ORPHA:70475
Multiple Myeloma	Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a...	ORPHA:29073
Severe Generalized Junctional Epidermolysis Bullosa	Sepsis, Pyoderma, Anemia, Recurrent urinary tract infections, Failure to thrive, Abnormal blood i...	ORPHA:79404
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss	ORPHA:391
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration	ORPHA:1933
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Elevated circulating hepatic transaminase ...	OMIM:614576
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration	ORPHA:90060
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Rheumatoid Arthritis	Weight loss, Elevated circulating C-reactive protein concentration	OMIM:180300
Currarino Syndrome	Recurrent urinary tract infections, Sepsis, Perianal abscess	OMIM:176450
Riddle Syndrome	Decreased circulating IgG level, Recurrent viral infections, Recurrent pneumonia, Recurrent sinus...	ORPHA:420741
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Nocardiosis	Sepsis, Liver abscess, Weight loss, Cutaneous abscess, Brain abscess	ORPHA:31204
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Anemia, Weight loss, Hyperalaninemia	ORPHA:298
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Cachexia, Weight loss, Hyperlipoproteinemia	ORPHA:1979
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Sepsis	ORPHA:2241
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hypokalemia	OMIM:188580
Cryptococcosis	Lymphoid leukemia, Sepsis	ORPHA:1546
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia	ORPHA:514
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph...	OMIM:614162
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Weight loss	ORPHA:79242
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis, Weight loss, Hypoalbuminemia	ORPHA:67
Pleural Mesothelioma	Weight loss	ORPHA:50251
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Weight loss	ORPHA:399
Thymoma	Aplastic anemia, Decreased circulating antibody level, Pure red cell aplasia, Weight loss, Imbala...	ORPHA:99867
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Cachexia, Decreased plasma total carnitine, Elevated circulating creatine kinase ...	ORPHA:42
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leukocytosis, Poikilocytosis, Hepat...	ORPHA:824
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Sepsis, Recurrent pneumonia	ORPHA:158668
Majeed Syndrome	Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomegaly, Weight lo...	ORPHA:77297
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Hypokalemia	OMIM:613239
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Weigh...	ORPHA:400
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:324964
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Ctcf-Related Neurodevelopmental Disorder	Sepsis, Recurrent lower respiratory tract infections, Recurrent infections, Failure to thrive, Sm...	ORPHA:363611
Familial Glucocorticoid Deficiency	Hyperkalemia, Recurrent infections, Recurrent urinary tract infections, Hyponatremia, Failure to ...	ORPHA:361
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, Decreased circulating antibody level, Lack of T cell function, Chronic ...	ORPHA:572
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Autoimmune Pulmonary Alveolar Proteinosis	Intraalveolar phospholipid accumulation, Weight loss, Abnormal circulating protein concentration	ORPHA:747
Perry Syndrome	Weight loss	ORPHA:178509
Aicardi-Goutieres Syndrome 9	Anemia, Recurrent urinary tract infections, Failure to thrive, Hepatosplenomegaly, Weight loss, H...	OMIM:619487
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve...	OMIM:603909
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Anemia, Ele...	OMIM:619381
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Failure to thrive, Weight loss, Thromboc...	OMIM:212750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut...	OMIM:600802
Wolman Disease	Cachexia, Bone-marrow foam cells, Anemia, Splenomegaly	ORPHA:75233
Wilson Disease	Anemia, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Weight loss	ORPHA:905
Glucose-Galactose Malabsorption	Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss	ORPHA:35710
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I...	ORPHA:2298
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:520
Postinfectious Vasculitis	Recurrent candida infections, Recurrent Staphylococcus aureus infections, Increased circulating a...	ORPHA:48435
Mcdonough Syndrome	Cachexia	ORPHA:2471
Menkes Disease	Sepsis	ORPHA:565
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Low alkaline phosphatase	OMIM:201100
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Al Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level, Howe...	ORPHA:85443
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Castleman Disease	Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei...	ORPHA:160
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Recurrent acute respiratory tract infection, Incr...	ORPHA:95409
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Pelizaeus-Merzbacher Disease	Cachexia, Recurrent respiratory infections, Failure to thrive in infancy	ORPHA:702
Christianson Syndrome	Cachexia	ORPHA:85278
Kaposi Sarcoma	Abnormality of the spleen, Weight loss	ORPHA:33276
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Solitary Fibrous Tumor	Hypophosphatemic rickets, Weight loss, Reduced C-peptide level	ORPHA:2126
Peripheral Primitive Neuroectodermal Tumor	Anemia, Weight loss, Elevated circulating alpha-fetoprotein concentration, Elevated carcinoma ant...	ORPHA:370348
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy	OMIM:616801
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Splenomegaly, Weight loss, Elevated transferrin saturation, Incr...	ORPHA:465508
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Graves Disease	Weight loss	OMIM:275000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Liposarcoma	Weight loss	ORPHA:69078
Thymic Carcinoma	Weight loss	ORPHA:99868
Cap Polyposis	Weight loss	ORPHA:160148
Osteosarcoma	Weight loss	ORPHA:668
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Anemia, Decreased circulating apolipoprotein A-I concent...	ORPHA:85450
Neuroblastoma	Thrombocytopenia, Increased circulating ferritin concentration, Anemia, Weight loss	ORPHA:635
Polymyositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
Osteootohepatoenteric Syndrome	Anemia, Increased serum bile acid concentration, Hypokalemia, Failure to thrive, Weight loss	OMIM:619377
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Renpenning Syndrome	Cachexia	ORPHA:3242
Beta-Ketothiolase Deficiency	Hyperuricemia, Leukocytosis, Hyperammonemia, Weight loss, Thrombocytosis	ORPHA:134
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Poems Syndrome	Increased circulating antibody level, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:2905
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Weight l...	ORPHA:284
Gm1 Gangliosidosis	Failure to thrive, Hepatosplenomegaly, Splenomegaly, Weight loss, Recurrent respiratory infections	ORPHA:354
Cronkhite-Canada Syndrome	Cachexia, Anemia, Splenomegaly	ORPHA:2930
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Aicardi-Goutieres Syndrome 7	Anemia, Increased circulating antibody level, Recurrent lower respiratory tract infections, Pancy...	OMIM:615846
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu...	ORPHA:35078
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen	ORPHA:93941
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
19Q13.11 Microdeletion Syndrome	Cachexia, Recurrent respiratory infections, Failure to thrive	ORPHA:217346
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Brucellosis	Lung abscess, Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Incre...	ORPHA:1304
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, Leukopenia, Weight loss, Thrombocytosis	ORPHA:20
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Q Fever	Anemia, Increased circulating antibody level, Granuloma, Hepatosplenomegaly, Splenomegaly, Thromb...	ORPHA:781
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cache...	ORPHA:275761
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Sepsis, Anemia, Neutropenia	ORPHA:95455
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation	ORPHA:66628
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Hereditary Orotic Aciduria	Impaired T cell function	ORPHA:30
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation	ORPHA:179494
Tetrasomy 12P	Cachexia	ORPHA:884
Malt Lymphoma	Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
Nephroblastoma	Weight loss	ORPHA:654
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Severe failure to thrive	ORPHA:371364
Purine Nucleoside Phosphorylase Deficiency	Impaired T cell function, Abnormality of B cell physiology, Decreased lymphocyte proliferation in...	OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity	OMIM:242700
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Weight loss	ORPHA:139402
Infantile Krabbe Disease	Recurrent infections, Cachexia, Failure to thrive	ORPHA:206436
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Aredyld Syndrome	Cachexia, Splenomegaly	ORPHA:1133
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function	ORPHA:1830
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss	ORPHA:33577
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l...	ORPHA:79102
Yao Syndrome	Weight loss	OMIM:617321
Xfe Progeroid Syndrome	Hypoalbuminemia, Cachexia, Failure to thrive	OMIM:610965
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,...	OMIM:618213
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypokalemia	ORPHA:1501
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Failure to thrive, Sepsis, Recurrent pneumonia, Acute myelomonocytic leukemia	ORPHA:99646
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Weight loss, Elevated c...	OMIM:603041
Caroli Disease	Liver abscess, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Weight loss	ORPHA:53035
Plague	Sepsis, Splenomegaly	ORPHA:707
Hennekam-Beemer Syndrome	Failure to thrive, Mastocytosis	ORPHA:2135
Perry Syndrome	Weight loss	OMIM:168605
Polycythemia Vera	Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Oromandibular Dystonia	Weight loss	ORPHA:93958
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blood urea ni...	ORPHA:49041
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Abnormality of neuronal migration, Recurre...	ORPHA:647
Fatal Familial Insomnia	Weight loss	OMIM:600072
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Juvenile Dermatomyositis	Calcinosis, Weight loss, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:93672
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Whipple Disease	Hyponatremia, Cachexia, Anemia, Splenomegaly	ORPHA:3452
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Recurrent respiratory infections, Weight loss	ORPHA:1018
Budd-Chiari Syndrome	Splenomegaly, Weight loss	ORPHA:131
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Giant Cell Arteritis	Recurrent pharyngitis, Weight loss	ORPHA:397
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Short Syndrome	Weight loss	ORPHA:3163
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Weight loss, Elevated circulating C-reactive protein concentrat...	ORPHA:900
Immunodeficiency 58	Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re...	OMIM:618131
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Kikuchi-Fujimoto Disease	Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom...	ORPHA:50918
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Familial Colorectal Cancer Type X	Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 leve...	ORPHA:79078
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Silver-Russell Syndrome	Cachexia, Obesity, Failure to thrive in infancy	ORPHA:813
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Splenomegaly, Weight loss, Polyclonal elevation of IgM, Hypoalbuminemia	ORPHA:171
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Pancytopenia, Splenomegaly, Weight loss, Abnormality of T c...	OMIM:181000
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Klatskin Tumor	Weight loss	ORPHA:99978
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Refractory anemia, Anemia	ORPHA:79076
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis	OMIM:608710
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Mucolipidosis Type Ii	Recurrent respiratory infections, Hepatosplenomegaly, Splenomegaly, Weight loss	ORPHA:576
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti...	OMIM:219800
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Rett Syndrome	Cachexia	OMIM:312750
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Reactive Arthritis	Recurrent urinary tract infections, Weight loss	ORPHA:29207
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased circula...	OMIM:242840
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Weight loss	ORPHA:1333
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Fanconi Anemia	Anemia, Recurrent urinary tract infections, Thrombocytopenia, Leukopenia, Weight loss, Pyridoxine...	ORPHA:84
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Vipoma	Hypokalemia, Hypercalcemia, Weight loss, Normochromic anemia	ORPHA:97282
Dermatomyositis	Abnormal eosinophil morphology, Recurrent respiratory infections, Elevated circulating creatine k...	ORPHA:221
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Pulmonary Alveolar Microlithiasis	Increased circulating surfactant protein level, Weight loss	ORPHA:60025
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Recurrent respiratory infections, Weight loss	ORPHA:2020
Erdheim-Chester Disease	Anemia, Weight loss	ORPHA:35687
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Glucagonoma	Hypercalcemia, Acanthocytosis, Normochromic anemia, Weight loss	ORPHA:97280
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Pancreatoblastoma	Weight loss	ORPHA:677
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight, Elevated circulating creatine kinase concentration	ORPHA:800
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85408
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia, Weight loss	ORPHA:143
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Tropical Pancreatitis	Weight loss	ORPHA:103918
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Elevated circulating creatine kinase conce...	ORPHA:2388
Trisomy 18	Cachexia	ORPHA:3380
Tsh-Secreting Pituitary Adenoma	Weight loss, Hypokalemia	ORPHA:91347
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia	ORPHA:536
Sarcoidosis	Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Hypercalcemia, Weight loss, Eosinop...	ORPHA:797
Chronic Graft Versus Host Disease	Recurrent infections, Weight loss, Pancytopenia	ORPHA:99921
Seckel Syndrome	Cachexia	ORPHA:808
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Lymphopenia, Leukocytosis, Weight loss, Decreased eosinophil count, Abdomi...	ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hypochloremia, Hyponatremia, Failure to thrive, Weight loss	ORPHA:90794
Camurati-Engelmann Disease	Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly	ORPHA:1328
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thro...	ORPHA:2072
Cockayne Syndrome	Cachexia, Splenomegaly, Hyperuricemia	ORPHA:191
22Q11.2 Deletion Syndrome	Impaired T cell function	ORPHA:567
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Behçet Disease	Splenomegaly, Weight loss	ORPHA:117
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Cachexia, Eosinophilia, Splenomegaly, Hypoalbu...	ORPHA:75565
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Weight loss	ORPHA:652
Lynch Syndrome	Weight loss	ORPHA:144
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia, Weight loss	OMIM:233450
Stickler Syndrome	Cachexia, Recurrent respiratory infections, Slender build	ORPHA:828
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Proteus Syndrome	Recurrent infections, Cachexia, Gray matter heterotopia, Splenomegaly, Thymus hyperplasia	ORPHA:744
Marfan Syndrome	Cachexia, Slender build	ORPHA:558
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Weight loss	ORPHA:3385
Digeorge Syndrome	Impaired T cell function	OMIM:188400
Pmm2-Cdg	Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Failure to th...	ORPHA:79318
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649
Haim-Munk Syndrome	Recurrent bacterial skin infections	OMIM:245010
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Chronic f...	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.

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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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