Not currently registered for phenotyping at IMPC

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

Gene Summary

chemokine (C motif) ligand 1
SCM-1a,  Scyc1,  ATAC,  SCM-1,  LTN,  Lptn,  lymphotactin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Xcl1 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 Xcl1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... OMIM:616100
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Diarrhea, ... ORPHA:436159
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... OMIM:152700
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Autoimmunity, Splen... ORPHA:809
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Autoimmune Hepatitis
Inflammation of the large intestine, Cirrhosis, Glomerulonephritis, Acute hepatitis, Jaundice, Ga... ORPHA:2137
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Stomach cancer, Abnorma... ORPHA:2494
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Systemic ... ORPHA:158061
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive he... ORPHA:3261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte transformation with phytohem... OMIM:617006
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Systemic Lupus Erythematosus 17
Hypertensive crisis, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus... OMIM:301080
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Recurrent otitis media, Lymp... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted diarrhea, Lymphopenia, Hepatosple... ORPHA:169160
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... ORPHA:228426
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa... OMIM:619573
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Hep... OMIM:613812
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l... OMIM:619164
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Q Fever
Hepatosplenomegaly, Lupus anticoagulant, Antiphospholipid antibody positivity, Hepatomegaly, Endo... ORPHA:781
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Adrenal insuffic... OMIM:240300
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Skin rash, Glossopto... ORPHA:47
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestin... ORPHA:73263
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Autosomal Agammaglobulinemia
Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Skin rash, Sinusitis, Arthritis, Neutropenia,... ORPHA:33110
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Recurrent skin infections, ... OMIM:619381
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... OMIM:607765
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Panniculitis, Cirrhosis, Hepatomegaly, Jaundice, Perinuc... ORPHA:60
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Congenital Enterovirus Infection
Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... ORPHA:292
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T... ORPHA:319218
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Monocyto... OMIM:616871
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Malar rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombo... ORPHA:231111
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... ORPHA:39812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... OMIM:601457
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Skin rash, Impa... OMIM:619924
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, I... OMIM:616744
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Increased circulating cortisol level, Abn... ORPHA:139507
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Legionnaires Disease
Hypotension, Diarrhea, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Arrhythmia,... ORPHA:549
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Pulmonary embolism, Arterial occlusion, Microangiopathic... ORPHA:464343
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephali... ORPHA:3386
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Juvenile rheumatoid arthritis, Pe... ORPHA:85414
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... OMIM:620449
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... OMIM:617780
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Hepatomegaly, Atrophic gastritis, Vasculit... OMIM:615846
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Lymphopenia, Abnormality of the liv... ORPHA:84064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Pneumonia, Vasculitis, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to ... ORPHA:1855
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, ... OMIM:620565
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Autoimmunity, Decreased proportion of naive T cells, ... ORPHA:83471
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Leukocytosis, Splenomegaly, S... ORPHA:829
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg... ORPHA:294
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Infla... ORPHA:229717
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:454836
Griscelli Syndrome
Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Decreased response to growth ... OMIM:307200
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelit... ORPHA:36234
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Infectious encephalitis,... OMIM:209920
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas... OMIM:147060
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Hepatitis ORPHA:363523
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune... OMIM:618495
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Recurrent infection of the gastrointestinal tract OMIM:609529
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Recurrent infection of the gastroin... OMIM:615207
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Autoimmunity, Splenomegaly, Chronic sinusitis, Abnormal intest... ORPHA:397596
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... OMIM:214950
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Chronic diarrhea, Hypoplasia of the thymus, Impaired l... OMIM:300400
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Anti-smooth ... OMIM:610163
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Immunodeficiency 22
Diarrhea, Protracted diarrhea, Autoimmunity, Decreased proportion of CD4-positive helper T cells,... OMIM:615758
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Abnormal e... ORPHA:1163
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Felty Syndrome
Recurrent pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Episcleritis, Splenomegaly, Sy... ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopen... OMIM:308240
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Autoimmune Polyendocrine Syndrome, Type Ii
Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal ... OMIM:269200
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... ORPHA:217390
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Autoimmunity, Hypereosinophilia, Splenomegaly, Autoimmune hemol... OMIM:615387
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Dysphagia ORPHA:2724
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Autoimmunity, Splen... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Chronic hepatitis, Splenomegaly, Enteroviral encephalitis, Sclerosing cholan... OMIM:308230
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Pancytopenia, Autoimmunity, Hypersplenism, Splenomegaly, Port... OMIM:613385
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Intestinal malrotation, Autoimmunity, Psor... ORPHA:436252
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Inter... OMIM:615952
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive heart failure, Prot... ORPHA:67
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pus... ORPHA:31205
Immune-Mediated Necrotizing Myopathy
Congestive heart failure, Palpitations, Skin rash, Myositis, Raynaud phenomenon, Dysphagia, Myoca... ORPHA:206569
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... OMIM:614921
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Trans... ORPHA:183
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Diarrhea, Graves disease, Hepatitis, Adrenocorticotropin deficien... ORPHA:199299
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Arthralgia/arthritis, Systemic lupus erythematosus ORPHA:411593
Congenital Isolated Acth Deficiency
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased circulatin... ORPHA:199296
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Hepatomegaly, Autoimmune thrombocytopenia, Vasculitis, Gast... OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, ... OMIM:614470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Arrhythmia, Neutropenia, Hepatomegaly, Heart block, Abnormality of... ORPHA:398124
Ethylene Glycol Poisoning
Hypotension, Vomiting, Congestive heart failure, Shock, Nausea, Gastritis, Prolonged QT interval,... ORPHA:31826
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine, Autoimmunity ORPHA:46488
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Recurrent gastroenteritis, ... ORPHA:275
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent diarrhea, Splenomegaly, Superfic... OMIM:620632
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Microscopic Polyangiitis
Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Congestive heart failure, ... ORPHA:727
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Intestinal perforation, Bloody mucoid di... ORPHA:810
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ... ORPHA:91138
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Pr... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Antisynthetase Syndrome
Aortic regurgitation, Xerostomia, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, ... ORPHA:81
Lujo Hemorrhagic Fever
Diarrhea, Lymphopenia, Dysphagia, Increased circulating lactate dehydrogenase concentration, Shoc... ORPHA:319213
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... ORPHA:440713
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis OMIM:618398
Scrub Typhus
Hypotension, Skin rash, Splenomegaly, Infectious encephalitis, Hyperhidrosis, Myocarditis, Anteri... ORPHA:83317
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis ORPHA:525
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Keratoconjunctivi... OMIM:617321
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent otitis media, Py... OMIM:300755
Hepatoportal Sclerosis
Hypersplenism, Anticardiolipin IgM antibody positivity, Jaundice, Esophageal varix, Gastrointesti... ORPHA:64743
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... ORPHA:90291
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Simple Cryoglobulinemia
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Rheumatoid factor positive, Viral hepatitis, ... ORPHA:91139
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Hepatomegaly... ORPHA:39041
Unclassified Myelodysplastic Syndrome
Abnormal circulating lactate dehydrogenase concentration, Acute myeloid leukemia, Leukocytosis, A... ORPHA:98827
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran... OMIM:616005
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... OMIM:619991
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage OMIM:602248
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent... OMIM:610199
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hepatomegaly, Episodic vomiting, Decreased liver function OMIM:238970
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... OMIM:606367
Mixed-Type Autoimmune Hemolytic Anemia
Systemic lupus erythematosus, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Tachycardia ORPHA:90036
Kawasaki Disease
Vasculitis, Strawberry tongue, Diarrhea, Hepatitis, Congestive heart failure, Leukocytosis, Skin ... ORPHA:2331
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Whipple Disease
Uveitis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Splenomegaly, Infectious encephaliti... ORPHA:3452
Overlap Myositis
Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Systemic lupus ery... ORPHA:206572
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Autoimmunity ORPHA:79087
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... ORPHA:98813
Pediatric-Onset Graves Disease
Diarrhea, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Palpita... ORPHA:525731
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Arteritis, Diarrhea, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepati... ORPHA:533
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Acquired Ichthyosis
Autoimmunity, Recurrent skin infections ORPHA:454
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Skin rash... ORPHA:319251
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin ... ORPHA:32960
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis,... ORPHA:728
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant... ORPHA:703
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... ORPHA:779
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cerebral vasculitis, Car... ORPHA:48435
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Hypothyroidism, Hypert... ORPHA:48377
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice... ORPHA:99827
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... ORPHA:398063
Igg4-Related Aortitis
Hypereosinophilia, Autoimmunity, Intestinal obstruction, Cytoplasmic antineutrophil antibody posi... ORPHA:449400
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala... ORPHA:79480
Uveitis, Hypotension, Subconjunctival hemorrhage, Hepatitis, Diarrhea, Pulmonary hemorrhage, Reti... ORPHA:509
Anti-Glomerular Basement Membrane Disease
Anemia, Vasculitis, Autoimmunity, Arthritis ORPHA:375
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatospleno... ORPHA:35078
Rheumatic Fever
Epistaxis, Arrhythmia, Constipation, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis ORPHA:3099
Familial Mediterranean Fever
Vasculitis, Diarrhea, Erysipelas, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infar... ORPHA:342
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... OMIM:617237
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Right ventricula... ORPHA:90363
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Absent natural killer cells, Recurrent otitis media, Lymphopenia, Chronic diarrhea, In... OMIM:600802
Mccune-Albright Syndrome
Gastroesophageal reflux, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Pulmonary venous hypertension, An... ORPHA:90060
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Colchicine Poisoning
Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Congestive heart failure, Leukocytosis, Arrhy... ORPHA:31824
Polyarteritis Nodosa
Cardiomyopathy, Abnormality of the gastrointestinal tract, Raynaud phenomenon, Hypertension, Peri... ORPHA:767
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Hypereosinophilia, Leukocytosis, Autoimmunity, Abnormality of the gastrointest... ORPHA:2902
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, High palate, Sy... ORPHA:499009
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Protruding tongue, Sinusitis, Macroglossi... OMIM:242860
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic ar... ORPHA:449280
Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity... ORPHA:221
Reynolds Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Anti-centro... OMIM:613471
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Bronchiectasis ORPHA:1303
Kikuchi-Fujimoto Disease
Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulating lactat... ORPHA:50918
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Anti-Sm anti... OMIM:620376
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Congestive heart failure, Autoimmunity, Splenomegaly, Autoimmune he... ORPHA:90033
Acute Disseminated Encephalomyelitis
Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glyc... ORPHA:83597
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Autoimmunity, Cerebral ischemia, Otitis media... ORPHA:900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Diarrhea, Hypoplasia of the thymus... OMIM:619313
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... OMIM:215600
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, Recurrent pneumo... OMIM:617718
Livedoid Vasculopathy
Graves disease, Polycythemia, Systemic lupus erythematosus, Pancytopenia, Autoimmunity, Leukocyto... ORPHA:542643
Mucopolysaccharidosis Type 7
Hepatitis, Splenomegaly ORPHA:584
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Alopecia Totalis
Inflammation of the large intestine, Autoimmunity ORPHA:700
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, He... OMIM:619487
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Diarrhea, Brain abscess, Vomiting, Secretory diarrhea, Bloody dia... ORPHA:544482
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp... OMIM:615966
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Adiposis Dolorosa
Diarrhea, Xerostomia, Autoimmunity, Hypothyroidism, Telangiectasia of the skin, Constipation, Art... ORPHA:36397
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Splenomegaly, Thrombocytopenia, Anhidrosis, Hepatomegaly, Hemolytic anem... ORPHA:169090
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he... ORPHA:275555
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Autoimmunity, Skin ... ORPHA:93672
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... ORPHA:90062
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Jaundice, Tachycardia, Shock, Abnor... ORPHA:99826
Wilson Disease
Hepatic failure, Portal fibrosis, Vomiting, Acute hepatic failure, Elevated circulating aspartate... OMIM:277900
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Pemphigus Vulgaris
Autoimmunity, Anti-desmoglein-3 antibody positivity, Recurrent cutaneous abscess formation, Anti-... ORPHA:704
Alopecia Universalis
Hypertension, Atopic dermatitis, Autoimmunity, Psoriasiform dermatitis ORPHA:701
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Autoimmunity, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, Small vessel vasculi... ORPHA:36412
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... ORPHA:85410
Dermatitis Herpetiformis
Microcytic anemia, Autoimmunity, Eczematoid dermatitis ORPHA:1656
Viss Syndrome
Cleft soft palate, Chronic constipation, Celiac disease, High palate, Dysphagia, Duodenitis, High... OMIM:619472
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Knee osteoarthritis, Osteoarthritis of the elbow, Mitral regurgitation, Pericarditis ORPHA:2848
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Igg4-Related Thyroid Disease
Graves disease, Anti-thyroglobulin antibody positivity, Autoimmunity, Sialadenitis, Sclerosing ch... ORPHA:64744
Cold Agglutinin Disease
Diarrhea, Autoimmunity, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor ... OMIM:106300
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormal proportion of naive CD4 T cells, Congestive heart fai... ORPHA:1830
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ... OMIM:203800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... ORPHA:117
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ca... OMIM:212065
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk... ORPHA:355
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... OMIM:186580
Autoimmune Hypoparathyroidism
Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Autoimmunity, Prolonged QT inte... ORPHA:36913
Giant Cell Arteritis
Vasculitis, Hepatic failure, Epistaxis, Gastrointestinal infarctions, Cerebral ischemia, Arrhythm... ORPHA:397
Pneumonia, Vasculitis, Folliculitis, Granuloma, Vasospasm, Abnormality of the spleen, Morbillifor... ORPHA:228123
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Pneumonia, Vomiting, Lymphadenitis, Brain abscess, Cutaneous abscess, Keratitis, Osteomyelitis, I... ORPHA:31204
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:3342
Von Hippel-Lindau Disease
Polycythemia, Cardiomyopathy, Palpitations, Myocardial infarction, Arrhythmia, Pancreatic islet c... ORPHA:892
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Vomiting, Gastroesophageal reflux, Recurrent otitis media, Chronic gastritis... OMIM:150230
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Gastroesophageal reflux, Xerostomia, Congestive heart failure, Autoimmunity,... ORPHA:220393
Scorpion Envenomation
Cardiogenic shock, Increased circulating lactate dehydrogenase concentration, Prominent U wave, D... ORPHA:466677
Blau Syndrome
Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Large vessel vasculitis, Sple... ORPHA:90340
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Pulmonary venous hypertensi... ORPHA:79128
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Chronic mucocutaneous candidiasis, Primary adrenal insuffic... ORPHA:3453
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Stiff-Person Syndrome
Autoimmunity, Hyperhidrosis, Anemia, Tachycardia, Hypertension OMIM:184850
Acquired Generalized Lipodystrophy
Cardiomyopathy, Autoimmunity, Abnormal cardiovascular system physiology, Hepatic steatosis, Hyper... ORPHA:79086
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Autoimmunity, Psoriasiform dermatitis, Malar rash, Skin rash, Anti... ORPHA:85436
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Anal stenosis, Recurrent otitis media, Recurrent infection of the ... OMIM:251260
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma ORPHA:79481
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Cholestasis, Gastroparesis, Esophagitis,... ORPHA:198
Pneumonia, Vomiting, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Prostatitis, Peri... ORPHA:1546
Igg4-Related Submandibular Gland Disease
Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibular glands, Autoimmunity, ... ORPHA:449432
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Mi... ORPHA:2959
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Autoimmunity, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Systemic lupus erythematosus, Leukopenia, Autoimmunity, ... ORPHA:2298
African Trypanosomiasis
Myelitis, Diarrhea, Keratitis, Third degree atrioventricular block, Second degree atrioventricula... ORPHA:3385
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormality of the submandibular glands, Autoimmunity, Enlargement of parotid gland, ... ORPHA:79078
Vici Syndrome
Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, Cardiomyopathy, Congestive heart failu... OMIM:242840
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia... ORPHA:508533
Tetrasomy 9P
Bifid uvula, Systemic lupus erythematosus, Glue ear, Absent gallbladder, Median cleft palate, Bil... ORPHA:3310
Alström Syndrome
Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentration, Hepatosplenomeg... ORPHA:64
Aymé-Gripp Syndrome
Cleft palate, Pericarditis ORPHA:1272
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Autoimmunity, Pancreatitis ORPHA:405
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Williams Syndrome
Mitral regurgitation, Rectal prolapse, Chronic otitis media, Cholelithiasis, Gastroesophageal ref... ORPHA:904
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Increased ci... ORPHA:79318


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 Xcl1

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 Xcl1.

No publications found that use IMPC mice or data for Xcl1.

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MGI Allele Allele Type Produced
Xcl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Xcl1em1(IMPC)Ccpcz Exon Deletion Mice
Xcl1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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