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Gene: Ctss MGI:107341

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Gene Summary

Name:
cathepsin S
Synonyms:
Cat S

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased spleen weight Ctssem1(IMPC)H HOM   Early adult 7.13×10-05

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Viewing: all phenotypes

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 Ctss 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Reduced isohemagglutinin level, Dec... OMIM:618459
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Telangiectases of the cheeks OMIM:615139
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Au... ORPHA:99886
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... OMIM:610582
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Anti-g... OMIM:616329
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Autoimmunity OMIM:222100
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Essential Fructosuria
Hyperglycemia ORPHA:2056
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Sneddon Syndrome
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... OMIM:182410
Glycoprotein Storage Disease
Gout OMIM:232900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 1
Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula... OMIM:607594
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulati... ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Peri... OMIM:618394
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Agammaglobulinemia, Decreased circulatin... OMIM:619705
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Vasculitis in the skin, Abnormal immunoglobulin level ORPHA:90159
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:619220
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Immunodeficiency 96
Conjunctival telangiectasia, Decreased circulating total IgM, Defective T cell proliferation, Dec... OMIM:619774
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... OMIM:618534
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Hypoglycemia OMIM:620137
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Anti-thyroglobulin ... OMIM:615577
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... ORPHA:552
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Immunodeficiency 22
Pericarditis, Autoimmunity, Capillary leak, Decreased circulating total IgM, Decreased circulatin... OMIM:615758
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, D... OMIM:616100
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Decreased circulating antibody level ORPHA:99811
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Decreased circul... ORPHA:331206
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... ORPHA:277
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, R... OMIM:603909
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency, Common Variable, 2
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Increased circulating IgE level, Increased circulat... OMIM:243700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:444463
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Autoimmune thrombocytopenia, Decreased circulating antibody level OMIM:619846
Chylous Ascites
Pancreatitis ORPHA:1160
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Raynaud phenomenon, Antinuclear... ORPHA:90280
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level ORPHA:169079
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:436159
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Comp... OMIM:620282
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Antinuclear antibody positivity, Anti-thyroid peroxidase antibod... OMIM:618048
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Pancreatitis, Hypoglycemia OMIM:619386
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent isohemagglutinin level OMIM:613501
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular ... ORPHA:65682
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... OMIM:602668
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... ORPHA:2298
Immunodeficiency 52
Autoimmune thrombocytopenia, Decreased circulating antibody level OMIM:617514
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... OMIM:617241
Erythema Elevatum Diutinum
Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... ORPHA:293964
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
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
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:619802
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... ORPHA:3261
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Maple Syrup Urine Disease
Vomiting, Pancreatitis, Hypoglycemia OMIM:248600
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Selective Igm Deficiency
Autoimmunity, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody positivity, P... ORPHA:331235
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Diarrhea, Biliary atresia, Cholestasis, Acholic stools, Hy... OMIM:615710
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level ORPHA:397596
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level OMIM:616576
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Chronic diarrhea, Hepatic steatosis, Pancreatitis OMIM:618805
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Fasting hypog... OMIM:246200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Vasculitis, Decreased circulating ant... OMIM:308240
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmune hemolytic anemia, Autoimmunity OMIM:618495
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Alpha-Heavy Chain Disease
Dysgammaglobulinemia ORPHA:100025
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating total IgM, Decrea... OMIM:614700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit... ORPHA:275
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Gastrointestinal hemorrhage, Sinusitis, Pericardit... ORPHA:727
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... OMIM:615559
Schnitzler Syndrome
Increased circulating IgM level, Vasculitis ORPHA:37748
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgG level, Decre... OMIM:607143
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... OMIM:614470
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Incr... OMIM:102700
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Hypertension, Decreased circulating complement C3 concentration, C... ORPHA:329918
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... OMIM:618935
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia OMIM:608184
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive OMIM:209950
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Decreased circulating ... ORPHA:90363
Dend Syndrome
Hyperglycemia, Autoimmune antibody positivity, Vomiting ORPHA:79134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
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
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Constipation, Vomiting, Pancreatitis OMIM:606054
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... OMIM:615952
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... OMIM:613011
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Epistaxis, Increased circulating IgA level, Reduced natural killer c... OMIM:301000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Tubulointerstitial nephritis, Vomiting, Pancreatitis OMIM:251000
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... ORPHA:79086
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level OMIM:617780
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased circulating total IgM, Rheumatoid arthritis... ORPHA:183675
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Diabetic ketoacidosis, Pneumonia ORPHA:70578
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Necrotizing Enterocolitis
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Adult Idiopathic Neutropenia
Increased circulating IgM level, Antineutrophil antibody positivity ORPHA:2688
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... ORPHA:572
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Autoimmunity, Decreased circula... OMIM:616005
Ataxia-Telangiectasia
Mucosal telangiectasiae, Telangiectasia of the skin, Decreased circulating antibody level ORPHA:100
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... ORPHA:221139
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating total IgG, Decreased circulating antibody level, D... OMIM:300972
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis ORPHA:135
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Liver kidney microsome type 1 antibody positivity, Spider hemangioma... ORPHA:2137
Cole Disease
Hyperglycemia OMIM:615522
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, In... OMIM:617388
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Rheumatoid factor positive, Monoclonal elevation of ci... ORPHA:91139
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Arthritis... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Hypothyroidism, Pa... ORPHA:412057
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia, Decreased circulating t... ORPHA:420741
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... ORPHA:2088
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Anti-acetylcholi... ORPHA:99867
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Vomiting, Hypoglycemia OMIM:615453
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Boutonneuse Fever
Increased circulating IgG level, Vasculitis, Increased circulating IgM level ORPHA:83313
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Tachycardia, Heart block, Increased circulatin... ORPHA:542323
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Facial telangiectasia in butter... OMIM:210900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Roifman Syndrome
Noncompaction cardiomyopathy, Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia OMIM:619693
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hyperglycemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Patent ductus arteriosus OMIM:618162
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia ORPHA:251009
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:619767
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Vomiting, Infectious ... ORPHA:2552
Tempi Syndrome
Intracranial hemorrhage, Increased circulating IgG level, Telangiectasia ORPHA:284227
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level... OMIM:615934
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Intermittent di... OMIM:232200
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, Glycosuria, Hypergl... ORPHA:99885
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Legionnaires Disease
Pericarditis, Myocarditis, Diarrhea, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Infectious ... ORPHA:549
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Autoimmune thrombocytopenia, Increased circulating IgE level, In... ORPHA:169154
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea, Postprandial... ORPHA:440713
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mitral regurgitation, Decreased circulating antibody level OMIM:619750
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Diarrhea ORPHA:188
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level OMIM:615122
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Bloom Syndrome
Telangiectasia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased ... ORPHA:125
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large in... OMIM:232220
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Immunodeficiency 81
Autoimmune hemolytic anemia, Reduced natural killer cell activity, Reduced antigen-specific T cel... OMIM:619374
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:508533
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Diarrhea, Vomiting, Hyperglycemia ORPHA:134
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Restrictive cardiomyopathy, Decreased ... ORPHA:369837
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent ductus arteriosus, Decreased circulating total IgM, Pulmonary arteria... OMIM:620005
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... ORPHA:540
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
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Mirizzi Syndrome
Nausea, Jaundice, Gallbladder perforation, Vomiting, Cholesterol gallstones, Cholelithiasis, Abno... ORPHA:521219
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Autoimmunity, Portal hypertension, Hepatocellular carcinoma, Sp... ORPHA:171
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Vasculitis, Increased circulating IgA level OMIM:617099
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... ORPHA:85414
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Autoimmunity, Portal hypertension, Hypersplenism, Anti-thyroid peroxidase antibody p... ORPHA:228426
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Impaired T cell function, Autoimmune thrombocyt... OMIM:613179
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Decreased circulating IgG level, Bone marrow hypocellularity, Antine... OMIM:301078
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Infectious encephalitis, Nep... ORPHA:73263
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis ORPHA:412
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Agammaglobulinem... OMIM:243150
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Pulmonic stenosis, Decreased circulating IgA level OMIM:618282
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis ORPHA:1830
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, C... ORPHA:480520
Immunodeficiency 23
Rheumatoid factor positive, Increased circulating IgE level, Increased circulating IgG level, Inc... OMIM:615816
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Agammaglobulinemia 1, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level OMIM:601495
Citrullinemia Type Ii
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Vomiting, Dysphagia, Hepatic periportal necrosis ORPHA:26791
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Biliary cirrh... OMIM:219700
Lassa Fever
Shock, Increased circulating IgM level ORPHA:99824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
X-Linked Agammaglobulinemia
Agammaglobulinemia, Autoimmunity ORPHA:47
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Diarrhea, Enterocolitis, Gout, Ulcerative colitis,... ORPHA:79259
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227990
Familial Mediterranean Fever
Intestinal obstruction, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... ORPHA:342
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Cardiomyopathy ORPHA:1493
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Decreased circulating antibody level OMIM:226300
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... ORPHA:37042
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroi... ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Griscelli Syndrome
Bone marrow hypocellularity, Decreased circulating antibody level ORPHA:381
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:280365
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Diarrhea, Jaundice, Lipid accumulation... ORPHA:20
Visceral Myopathy 1
Gastroparesis, Diarrhea, Constipation, Vomiting, Dysphagia, Pancreatitis OMIM:155310
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... OMIM:614576
Hereditary Folate Malabsorption
Decreased circulating antibody level ORPHA:90045
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased lymphocyte proliferation in response to anti-CD3, Increase... OMIM:606367
Primary Biliary Cholangitis
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti... ORPHA:186
Autosomal Agammaglobulinemia
Agammaglobulinemia ORPHA:33110
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Icf Syndrome
Decreased circulating antibody level ORPHA:2268
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... ORPHA:562
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, ... ORPHA:64744
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Intestinal... ORPHA:900
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... ORPHA:449395
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Increased circulating interferon... ORPHA:158061
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertensio... OMIM:619487
Common Variable Immunodeficiency
Vasculitis, Autoimmune thrombocytopenia, Decreased circulating antibody level ORPHA:1572
Mgat2-Cdg
Patent ductus arteriosus, Decreased circulating antibody level, Decreased lymphocyte proliferatio... ORPHA:79329
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulointerstitial neph... OMIM:124000
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Abnormal immunoglobulin level, Decreased circulating antibody level, H... OMIM:242900
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Decreased circulating total IgM, Vasculitis in the skin, Decreas... OMIM:619381
Macrocephaly/Autism Syndrome
Decreased circulating antibody level OMIM:605309
Behçet Disease
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... ORPHA:117
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hashimoto thyroiditis, Portal hypertension, Decreased circulating IgA level OMIM:613385
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis ORPHA:565612
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Glycosuria, Hyperglycemia ORPHA:466677
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Keratitis, Orchitis, Antinuclear antibody positivity, Retroperitoneal fib... ORPHA:449563
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the large... OMIM:232240
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Abnormal circulating interferon-gamma concentration, Abnormal circulating in... ORPHA:79124
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Myocarditis, Diarrhea, Pancreatitis, Secretory diarrhea, Bloody dia... ORPHA:544482
Melas
Hypoparathyroidism, Diabetes mellitus, Diarrhea, Vomiting, Recurrent pancreatitis, Constipation, ... ORPHA:550
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Pgm3-Cdg
Rheumatoid factor positive, Autoimmunity, Increased circulating IgA level, Increased circulating ... ORPHA:443811
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Vomiting, Hypoglycemia ORPHA:3008
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Decreased circulating antibody level OMIM:616084
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Hereditary Orotic Aciduria
Patent ductus arteriosus, Impaired T cell function ORPHA:30
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Patent ductus arteriosus, Increased circulating IgM level, Bone marrow ... OMIM:617303
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic diarrhea, Dyspha... ORPHA:3260
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Recurrent pancreatitis, St... OMIM:618268
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Pancreatitis, Acute colitis ORPHA:90038
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculitis, Decreased circulatin... OMIM:615688
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Good Syndrome
Decreased circulating antibody level ORPHA:169105
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Lysinuric Protein Intolerance
Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Antinucl... ORPHA:470
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction ORPHA:66628
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level OMIM:617425
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Increas... ORPHA:505248
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... OMIM:608594
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune antibody positivity, Autoimmune thrombocytopenia, Hypotension, Decreased circulating a... ORPHA:293978
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Dysphagia, Pancreatitis ORPHA:36426
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Orthostatic hypotension due to autonomic dysfunction ORPHA:179494
Marburg Hemorrhagic Fever
Pericarditis, Maculopapular exanthema, Skin rash, Hypoglycemia, Orchitis, Pancreatitis, Diarrhea,... ORPHA:99826
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... ORPHA:100026
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Vomiting, Pancreatitis OMIM:222700
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Decreased circulating IgA l... OMIM:613327
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... ORPHA:79078
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, R... ORPHA:508
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2 OMIM:615607
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Glycerol Kinase Deficiency
Episodic vomiting, Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis OMIM:307030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Constipation, Gastroesophageal reflux, Asp... ORPHA:444077
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Pancreatitis, Dysphagia ORPHA:537
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell... OMIM:269700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia ORPHA:935
Rift Valley Fever
Hematemesis, Retinal hemorrhage, Melena, Increased circulating IgG level, Increased circulating I... ORPHA:319251
Ataxia-Telangiectasia
Conjunctival telangiectasia, Decreased circulating IgG level, Decreased circulating IgG2 level, D... OMIM:208900
Monosomy 18Q
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Ao... ORPHA:1600
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis ORPHA:99880
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level OMIM:248500
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Hematemesis, Diarrhea, Epididymitis, Myocardi... ORPHA:99827
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Constipation, Dysphagia, Pancreatitis ORPHA:143
Atypical Werner Syndrome
Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... ORPHA:79474
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Decreased circulating antibody level OMIM:618183
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Cowden Syndrome 1
Decreased circulating antibody level OMIM:158350
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia OMIM:307200
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Telangiectasia OMIM:601675
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Autoimmunity, Decreased lymphocyte proliferation in response to mit... ORPHA:83471
Orotic Aciduria
Impaired T cell function OMIM:258900
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Vici Syndrome
Decreased circulating IgG level, Congestive heart failure, Dilated cardiomyopathy, Decreased T ce... OMIM:242840
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Vomiting... OMIM:220111
Yellow Fever
Shock, Increased circulating interleukin 6 concentration, Supraventricular arrhythmia, Hematemesi... ORPHA:99829
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis ORPHA:98908
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l... ORPHA:297
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Diarrhea, Insulin resistance, Glucose intolerance, Recurrent pancreat... OMIM:606721
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Dysgammaglobulinemia OMIM:251260
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Pulmonic stenosis, Decreased circulating antibody level OMIM:222470
Primary Sjögren Syndrome
Raynaud phenomenon, Vasculitis, Decreased circulating antibody level, Decreased circulating compl... ORPHA:289390
Brucellosis
Pericarditis, Transient ischemic attack, Rheumatoid factor positive, Myocarditis, Increased circu... ORPHA:1304
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level ORPHA:79396
Syndromic Diarrhea
Aortic regurgitation, Patent ductus arteriosus, Panhypogammaglobulinemia ORPHA:84064
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Whim Syndrome
Decreased circulating antibody level ORPHA:51636
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy, Decreased circulating antibody level ORPHA:175
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... ORPHA:49041
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Abnormality of T cell physiology, Increased circulating antibody... OMIM:181000
Trichothiodystrophy
Cardiomyopathy, Panhypogammaglobulinemia ORPHA:33364
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level ORPHA:247598
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Hennekam Syndrome
Decreased circulating antibody level ORPHA:2136
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Decreased circulating antibody level OMIM:274000
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Portal hypertension ORPHA:567983
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Impaired T cell function OMIM:176690
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Impaired T cell function, Autoimmunity, Patent ductus arteriosus, Tr... ORPHA:567
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level ORPHA:99843
Psoriasis-Related Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion ORPHA:85436
Alström Syndrome
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Hepatic fibrosis,... ORPHA:64
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level, Vitreous hemorrhage ORPHA:91500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Patent ductus arteriosus after birth at term, Secretory IgA deficiency... ORPHA:500150
Sponastrime Dysplasia
Decreased circulating antibody level ORPHA:93357
Digeorge Syndrome
Patent ductus arteriosus, Truncus arteriosus, Impaired T cell function OMIM:188400
Viss Syndrome
Epidural hemorrhage, Patent ductus arteriosus, Increased circulating IgE level, Increased circula... OMIM:619472
Mowat-Wilson Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Decreased circulating antibod... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Hyphema, Decreased circulating antibody level, Pulmonic stenosis, Aorti... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Pulmonic stenosis, Decreased circulating antibody level ORPHA:261537

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 Ctss

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 Ctss.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ctsstm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Ctsstm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctsstm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ctssem2(IMPC)H Indel Mice
Ctssem1(IMPC)H Indel Mice

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