Gene Summary

complement component 4B (Chido blood group)
C4,  Ss

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass C4bem1(IMPC)H HOM Early adult 1.85×10-05

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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.


M-Mode Images

60 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Skull Dorso Ventral Orientation

8 Images

Human diseases caused by C4b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to C4b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to C4b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation... OMIM:617006
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
C1Q Deficiency
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity OMIM:613652
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Membranoproliferative gl... OMIM:613779
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... OMIM:152700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Stage 5 chronic k... OMIM:615559
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Recurrent i... OMIM:613913
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Malabsorption, Recurrent fungal infections, Viral hepatitis, Coli... OMIM:209920
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Reversible renal fai... OMIM:607665
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level OMIM:118900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Decreased circul... ORPHA:169160
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Recurrent i... OMIM:608709
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... ORPHA:99931
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent otitis ... OMIM:614379
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Viral hepatitis, Acute hepatitis, Smooth muscl... ORPHA:2137
Immunodeficiency 56
Bronchiectasis, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to crypt... OMIM:615207
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic der... OMIM:618999
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthr... OMIM:616414
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Sepsis, Absence of lymph node germinal center, Decreased circulating IgE, Decreased... OMIM:308230
Autosomal Agammaglobulinemia
High palate, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Sepsi... ORPHA:33110
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepato... OMIM:619644
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Glossoptosis, Sepsis, Abnormality of the lymp... ORPHA:47
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Splenic abscess, Unusual skin infection, Prostatitis, Sepsis, Osteoarthritis, Abnormality of the ... ORPHA:31202
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, En... OMIM:243150
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... ORPHA:3261
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Rheumatoid factor positive, Microcytic anemia,... OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly ORPHA:228312
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevat... OMIM:607765
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Hepat... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Hemophagocytosis, Hepatic failure, Aplastic anemia, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Systemic lupus erythematosus, Rheumatoid arthritis, Aplastic anemia, Myositis, Imbalanced hemoglo... ORPHA:99867
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type... ORPHA:37042
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera... ORPHA:829
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... OMIM:603909
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Arteritis, Macro... ORPHA:93126
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid peroxidase antibody pos... ORPHA:49041
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... ORPHA:567548
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... OMIM:618534
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hep... ORPHA:848
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Allergic rhinitis, Autoimmunity, Decreased eosinophil count OMIM:131430
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Elevated circulating... ORPHA:186
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Pyloric stenosis, Abnormality of neutro... ORPHA:381
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Pancreatitis, Nephrotic range proteinuria, Nephropathy, Abnormal proportion of naive... ORPHA:1830
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... ORPHA:905
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Elevated circulating alkaline ph... ORPHA:39812
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Arrhythmia, Myocarditis, Hypotensi... ORPHA:549
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... ORPHA:79303
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Eczema, Membranoproliferative glo... OMIM:615816
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... ORPHA:228426
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rhe... ORPHA:158061
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Vasculitis, Arthritis, ... ORPHA:91138
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, A... OMIM:301078
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Systemic lupus erythematosus, Leukopenia, Monocytosis, Eczema, Bone marrow hypocellularity, Refra... OMIM:616871
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... ORPHA:391487
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Rheuma... ORPHA:449395
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconj... OMIM:269200
Hepatomegaly, Rheumatoid factor positive, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Kn... ORPHA:1304
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Skin rash, Leukopenia, Sepsis, Cholestasis, Abnormal macrophage mo... ORPHA:292
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Maculopapular exanthema, Leukopenia, S... ORPHA:319218
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephr... OMIM:614376
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Eosinophilia, Abscess, Peritoneal abscess, Abnormality o... ORPHA:400
Q Fever
Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Lymphadenopathy, Inc... ORPHA:781
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Unusual gastrointestinal infection, Vasculitis in ... ORPHA:48435
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abnormality of the ki... ORPHA:91139
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac... OMIM:614921
Bacterial Toxic-Shock Syndrome
Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Increased circulating m... ORPHA:36234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thr... OMIM:603552
Keratitis, Unusual CNS infection, Osteomyelitis, Invasive pulmonary aspergillosis, Sinusitis, Eos... ORPHA:1163
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... OMIM:610199
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Splenomegaly, Autoimmunity, Pancytopenia, Anemia, Panniculitis OMIM:618398
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Hepatitis, ... OMIM:613385
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, B lymphocytopenia, Pneumonia, Lymphadenopathy, Decreased propo... OMIM:619381
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Hepatit... ORPHA:436252
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosple... OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 69
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Autoimmunity, Recurrent ... OMIM:240500
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Lymphatic Filariasis
Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the kidney, Lymphadenitis, Glo... ORPHA:2035
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Hemophagocytosis, Decreased glomerular filtration rate, Proteinuria, ... ORPHA:470
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Avian Influenza
Lymphopenia, Leukopenia, Sepsis, Myelitis, Increased circulating lactate dehydrogenase concentrat... ORPHA:454836
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly... OMIM:619802
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia... ORPHA:227990
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Villous atrophy OMIM:614602
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... OMIM:105200
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia, Autoimmunity ORPHA:98375
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... OMIM:611182
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Neutro... OMIM:617056
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun... ORPHA:85414
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormality, Glossitis... ORPHA:2552
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma... ORPHA:100026
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia... ORPHA:227982
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Increased circulating anti... OMIM:615846
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Systemic lupus erythematosus, Splenomegaly, Chronic lymphatic leukemia, A... ORPHA:90033
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Myasthenia Gravis
Raynaud phenomenon, Rheumatoid arthritis, Myositis, Hemolytic anemia, Hepatitis, Abnormality of t... ORPHA:589
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Systemic Sclerosis
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... ORPHA:90291
Felty Syndrome
Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Chronic otit... ORPHA:47612
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Acute infectious pneumonia, ... ORPHA:73263
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Stomatitis, Decreased propor... OMIM:613011
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Po... ORPHA:440713
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Perinuclear antineutrophil antibody positivity, Splenomegaly, Decreased... OMIM:618394
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... OMIM:602347
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Malabsorption,... OMIM:240300
Fechtner syndrome
Nephritis, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Prolonged bleeding time OMIM:153640
Immunodeficiency 14B, Autosomal Recessive
Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in... OMIM:619281
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Kawasaki Disease
Cheilitis, Conjunctivitis, Leukocytosis, Skin rash, Cervical lymphadenopathy, Arrhythmia, Myocard... ORPHA:2331
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar... ORPHA:251004
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Skin rash, Raynaud phenomenon, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Vascul... ORPHA:1855
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Recurrent urinary tract infections, Hepatitis, Recurrent infections, Recurr... ORPHA:1334
Rift Valley Fever
Melena, Hematemesis, Skin rash, Increased circulating IgG level, Retinal hemorrhage, Severe viral... ORPHA:319251
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... ORPHA:3226
Cystic Fibrosis
Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Decreased circulating antibody le... ORPHA:586
Mucopolysaccharidosis Type 7
Hepatitis, Recurrent respiratory infections, Splenomegaly ORPHA:584
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Ren... OMIM:137940
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Pneumonia, Bone marrow hypocellularity, Hemolytic-uremic synd... ORPHA:2968
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent skin infections, Eosinophilia, Monocytosis, Aplas... ORPHA:486
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Leukocytosis, Decreased glomerular filtration rate, Glomerulonephritis, H... ORPHA:340
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primary Sjögren Syndrome
Chronic active hepatitis, Lymphadenopathy, Arthritis, Arteritis, Lymphopenia, Abnormality of the ... ORPHA:289390
Goodpasture Syndrome
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Proteinuria, Cytoplasmic antin... OMIM:233450
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Esophageal varix, Hypertension, Pulmonary... OMIM:215600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Aut... ORPHA:398124
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Eczema, Atrophic gastritis, Autoimmune ... OMIM:616100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jau... OMIM:613404
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Ascites, Micro... ORPHA:567546
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Eosinophilia, Sepsis, Normocytic anemia, Hypotension, Macrocytic anemia,... ORPHA:199299
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle ... OMIM:618986
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Elevated hepatic transaminase, T... OMIM:203800
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Elevated gamma-glu... OMIM:208085
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hepatomegaly OMIM:238970
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Myh9-Related Disease
Nephritis, Nephropathy, Renal insufficiency, Proteinuria, Prolonged bleeding time ORPHA:182050
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Large vessel v... ORPHA:728
Optic neuritis, Hepatomegaly, Skin rash, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hy... ORPHA:509
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Hepatomegaly, Diffuse mesangial scl... OMIM:102700
Wilson Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Osteoarthritis, Hepatocellular carcinoma,... OMIM:277900
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Anoperineal fistula,... OMIM:615607
Glanzmann Thrombasthenia
Macroscopic hematuria, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the kidney, Brain abscess, Abnormali... ORPHA:54251
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induce... OMIM:155100
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Acute Disseminated Encephalomyelitis
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Disseminated viral infect... ORPHA:83597
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Panniculitis OMIM:619183
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, I... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Mod... OMIM:619525
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean... OMIM:300908
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Mccune-Albright Syndrome
Pancreatitis, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Cholestasis, Hepatoc... ORPHA:562
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Acute kidne... ORPHA:91547
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Renal angiomyolipo... OMIM:260920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Recurrent skin infections, Abnorma... ORPHA:79408
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orch... OMIM:249100
Cocaine Intoxication
Colitis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomeruloneph... ORPHA:90068
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Splenomegaly, Cirrhosis, Osteo... ORPHA:355
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Hepatomegaly, Neutrophilia, Pustule, Splenomegaly, Skin rash, Abscess, Stomatitis OMIM:612852
Psoriasis 14, Pustular
Oligoarthritis, Pustule, Neutrophilia, Leukocytosis, Cholangitis, Psoriasiform dermatitis OMIM:614204
Acute Liver Failure
Hepatocellular necrosis, Skin rash, Intracranial hemorrhage, Hypotension, Elevated hepatic transa... ORPHA:90062
Occipital Horn Syndrome
Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infections, ... ORPHA:198
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatitis ORPHA:415
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Lymphadenopa... OMIM:617099
Lujo Hemorrhagic Fever
Odynophagia, Lymphopenia, Rhinitis, Leukocytosis, Skin rash, Maculopapular exanthema, Leukopenia,... ORPHA:319213
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Sweet Syndrome
Oligoarthritis, Neutrophilia, Leukocytosis, Pustule, Sterile abscess, Acne inversa, Myositis, Inf... ORPHA:3243
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Impaired thrombin-induced platelet aggregation, P... OMIM:139090
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Leukopenia, Acute infectious pneumonia, Pneumonia ORPHA:36238
Interstitial pneumonitis, Abnormal neutrophil count, Chronic oral candidiasis, Acute infectious p... ORPHA:723
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointestinal hemo... ORPHA:117
Alström Syndrome
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Otitis media, Hepatic failure, Esophageal ... ORPHA:64
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Nephropathy, Infla... OMIM:600903
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Hemoperitoneum, Hematuria, Myocarditis, Thrombocytopenia, Epididymiti... ORPHA:99827
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Hepatomegaly, Neutrophilia, Leukocytosis, Recurrent urinary tract infections, Severe p... ORPHA:99843
Yellow Fever
Neutrophilia, Leukocytosis, Skin rash, Pancreatic hyperplasia, Acute pancreatitis, Renal insuffic... ORPHA:99829


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 C4b

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 C4b.

No publications found that use IMPC mice or data for C4b.

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MGI Allele Allele Type Produced
C4bem1(IMPC)H Exon Deletion Mice
C4bem2(IMPC)H Exon Deletion Mice
C4btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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