Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass C4bem1(IMPC)H HOM Early adult 1.15×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 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
phenotypes
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
Podocyte foot process effacement, Increased CD4:CD8 ratio, Autoimmunity, Nephrotic syndrome, Prot... OMIM:617006
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections, Nephrotic syndrome, Ren... OMIM:613779
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurr... OMIM:615559
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephri... OMIM:152700
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Recurrent infections, Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulo... OMIM:613913
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Cholan... OMIM:209920
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Non-caseating epithelioid cell g... OMIM:607665
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Recurrent abscess formation, Hepatosplenomegaly, Decreased pro... ORPHA:169160
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Lipodystrophy, Partial, Acquired, Susceptibility To
Recurrent infections, Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulo... OMIM:608709
C3 Glomerulopathy
Autoimmunity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangia... ORPHA:329918
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Autoimmune antibody positivity, Glo... ORPHA:99931
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Recurrent infections, Cholangitis, ... OMIM:615207
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Diffuse hepatic steatosis, Anti-liver cytosol... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Meningitis, Recurrent sinusitis, Chronic active hepa... OMIM:614379
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltration, Colonic eo... OMIM:618999
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Autosomal Agammaglobulinemia
High palate, Sinusitis, Recurrent infections, Recurrent skin infections, Arthritis, Agammaglobuli... ORPHA:33110
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recurrent urinary t... ORPHA:83471
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Viral hepatitis, Recurrent otitis media, Cholangitis, Severe inf... ORPHA:183675
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Arthritis, Agammaglobuline... ORPHA:47
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Melioidosis
Pneumonia, Unusual skin infection, Brain abscess, Parotitis, Cutaneous abscess, Prostatitis, Oste... ORPHA:31202
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Aplastic anemia, Lymphocytosis, T... OMIM:308240
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Rheumatoid factor positive, Splenomegaly, Hepatomegaly, Recurrent tonsillitis,... OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Uveitis, Rheumatoid factor positive, Autoimmune hemolytic anemia, Decreased proport... ORPHA:3261
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Rheumatoid factor positive, Coombs-positive hemolytic anemia, Autoimmune hemolytic ... OMIM:601859
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, Re... OMIM:615607
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis,... OMIM:214950
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Thymoma
Autoimmunity, Myositis, Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Systemic l... ORPHA:99867
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Insuli... ORPHA:37042
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Trimethylaminuria
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Scl... ORPHA:93126
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Unilateral renal hypoplasia, Hashimoto thyroiditis, Hydronephrosis, D... ORPHA:49041
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Anti-thyroglobulin antibody positivity, Autoimmune th... OMIM:618534
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infec... ORPHA:319552
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Orthostatic hypotension, Gastrointestina... ORPHA:186
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Decreased circulat... ORPHA:381
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Bone marrow hypocellularity, Proteinuria, Abnormal proportion of naive CD4 T cells,... ORPHA:1830
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating spl... OMIM:619220
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Legionnaires Disease
Bone marrow hypocellularity, Arrhythmia, Infectious encephalitis, Endocarditis, Splenomegaly, Myo... ORPHA:549
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Graft Versus Host Disease
Recurrent infections, Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hem... ORPHA:39812
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Rheumatoid factor pos... OMIM:209950
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:158061
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Immunodeficiency 23
Eosinophilia, Rheumatoid factor positive, Abscess, Neutropenia, Eczema, Bronchiectasis, Allergic ... OMIM:615816
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Fat malabsorption, Increased circulating lactate dehydrogenase concentration, ... ORPHA:79303
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Recurrent infections, Portal hypertension, Hepatosplenomegaly, Cholangitis, Acute h... ORPHA:228426
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Keratoconjunctivitis, Chronic mucocutaneous... OMIM:269200
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegal... ORPHA:91138
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, E... OMIM:618348
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Igg4-Related Kidney Disease
Rheumatoid factor positive, Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephr... ORPHA:449395
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Villous atrophy, Inflammatory abnormality of the skin, Re... ORPHA:391487
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tub... ORPHA:139402
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Infectiou... ORPHA:292
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis OMIM:614602
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thrombocyto... ORPHA:319218
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, J... ORPHA:400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Simple Cryoglobulinemia
Viral hepatitis, Nephrotic syndrome, Rheumatoid factor positive, Mesangial hypercellularity, Prot... ORPHA:91139
Q Fever
Unusual infection, Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnormal left ve... ORPHA:781
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Bifid uvula, Recurrent otitis media, Elevated circulat... OMIM:614921
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Bacterial Toxic-Shock Syndrome
Severe infection, Increased circulating myelocyte count, Hepatitis, Recurrent urinary tract infec... ORPHA:36234
Aspergillosis
Eosinophilia, Sinusitis, Pneumonia, Invasive pulmonary aspergillosis, Infectious encephalitis, Me... ORPHA:1163
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Hepatomegaly, Chronic tubulointerstitial nephr... OMIM:614376
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, P... ORPHA:171
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Cold Agglutinin Disease
Autoimmunity, Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Recurrent infections, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreat... OMIM:610199
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis OMIM:618398
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:243700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Nephrotic syndrome, Acute pancreatitis,... OMIM:618935
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Combined Immunodeficiency-Enteropathy Spectrum
Recurrent abscess formation, Rectal abscess, Hashimoto thyroiditis, Intestinal malrotation, Autoi... ORPHA:436252
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Gastroesophageal reflux, Splenomegaly, ... OMIM:613385
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Cutaneous abscess, Increased fecal porph... ORPHA:101330
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Lymphatic Filariasis
Nephrotic syndrome, Hypereosinophilia, Hematuria, Proteinuria, Lymphadenitis, Orchitis, Knee oste... ORPHA:2035
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233690
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Decreased circulating total IgG, Anemia, Hep... OMIM:619381
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Thr... ORPHA:470
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Cholestasis, Splenomegaly, Hepatomegaly, Nephropathy,... OMIM:105200
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Autoimmune th... ORPHA:227990
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal urinary color, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:98375
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Hepatomegaly, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin r... ORPHA:85414
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Autoimmunity, Leukocytosis, Nephrotic syndrome, Pne... ORPHA:39041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Neutropenia, Anemia, Nephropathy, Gout, Focal segmental glome... OMIM:617056
Microsporidiosis
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... ORPHA:2552
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Immunodeficiency 36
Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Lymphopenia OMIM:616005
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Systemic lupus e... ORPHA:90033
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Hashimoto thy... ORPHA:227982
Myasthenia Gravis
Myositis, Hashimoto thyroiditis, Abnormality of the thymus, Rheumatoid arthritis, Hepatitis, Dysp... ORPHA:589
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated seru... OMIM:611182
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Gastrointestinal in... ORPHA:131
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Autoimmunity, Bone marrow hypocel... ORPHA:47612
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Systemic Sclerosis
Anti-topoisomerase I antibody positivity, Recurrent skin infections, Acute kidney injury, Protein... ORPHA:90291
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia,... OMIM:613011
Congenital Isolated Acth Deficiency
Hypotension, Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Zygomycosis
Gastrointestinal hemorrhage, Invasive fungal infection, Hepatitis, Hematemesis, Pancreatitis, Fas... ORPHA:73263
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Pulmonary lymphangiectasia, Abnormal renal glomerulus morphology, Renal i... OMIM:137940
Fechtner syndrome
Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease, Prolonged bleeding time OMIM:153640
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Keratoconjunctivitis, Iridocyclitis, Asplenia, Chronic active hepatitis, Malabsor... OMIM:240300
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Leukopenia, Pneumonia, Congestive hear... ORPHA:454836
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Ep... ORPHA:251004
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Anemia, Hepatitis, Cholestatic liver disease, Steatorrhea, Hypo... ORPHA:440713
Kawasaki Disease
Leukocytosis, Arrhythmia, Arthritis, Congestive heart failure, Cholecystitis, Myocarditis, Cervic... ORPHA:2331
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Abnormal enzyme/coenzyme activity, Giant cell hepatitis, Elevated h... ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Spondyloenchondrodysplasia
Pancytopenia, Recurrent infections, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:1855
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Inflammatory abnormality of t... ORPHA:3260
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Hepatosplenomega... OMIM:615952
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Anticardiolipin IgG antibody... ORPHA:64743
Chronic Mucocutaneous Candidiasis
Recurrent infections, Cheilitis, Recurrent respiratory infections, Hepatitis, Recurrent urinary t... ORPHA:1334
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Decreased circulating antibod... ORPHA:586
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Hepatitis, Splenomegaly ORPHA:584
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Cholestatic liver disease, Elevated hepatic transaminase, Jaundice OMIM:613404
Rift Valley Fever
Uveitis, Increased circulating IgG level, Retinal hemorrhage, Increased circulating IgM level, In... ORPHA:319251
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recur... ORPHA:2968
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Glomerulonephritis, Macroscopic hematuria, Anemia, An... OMIM:233450
Primary Sjögren Syndrome
Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Decreased proportion of CD4-positive helper... ORPHA:289390
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatome... OMIM:616100
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Autoimmune antibody positivity, Maculopapular exanthema, ... ORPHA:398124
Wilson Disease
Hepatic failure, Osteoarthritis, Hepatomegaly, Atypical or prolonged hepatitis, Esophageal varix,... OMIM:277900
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Leukocytosis, Pneumonia, Hematuria, Proteinuria, Ac... ORPHA:340
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Ascites, Stage... ORPHA:567546
Late-Onset Isolated Acth Deficiency
Eosinophilia, Orthostatic hypotension, Normocytic anemia, Hashimoto thyroiditis, Hypotension, Cel... ORPHA:199299
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Cholestatic liver disease, Elevated hepatic transaminase, Jaundice OMIM:208085
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Recurrent pneumonia, Congestive heart failure, Tubuloi... OMIM:203800
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Abnormality of the urinary system OMIM:600208
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Myh9-Related Disease
Proteinuria, Nephritis, Nephropathy, Renal insufficiency, Prolonged bleeding time ORPHA:182050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Recurrent ... OMIM:102700
Relapsing Polychondritis
Chondritis of pinna, Uveitis, Arthritis, Inflammatory abnormality of the eye, Scleritis, Myocardi... ORPHA:728
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Leptospirosis
Subconjunctival hemorrhage, Optic neuritis, Uveitis, Arrhythmia, Retinal hemorrhage, First degree... ORPHA:509
Glanzmann Thrombasthenia
Macroscopic hematuria, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Periodontitis, Neutrophilia OMIM:266265
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Abnormality of the kidney, Anemia, Liver abscess, Abno... ORPHA:54251
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Renal insufficiency OMIM:161200
Acute Disseminated Encephalomyelitis
Post-vaccination rubella, Viral hepatitis, Optic neuritis, Severe Epstein Barr virus infection, P... ORPHA:83597
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Panniculitis, Lymphadenopathy OMIM:619183
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis OMIM:270150
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Recurrent otitis media, Hepatic steatosis, Moderate albuminuria, Bile duct pro... OMIM:619525
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Hemoglobinuria, Hei... OMIM:300908
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Mccune-Albright Syndrome
Pancytopenia, Bone marrow hypocellularity, Cholestasis, Gastroesophageal reflux, Benign gastroint... ORPHA:562
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly... OMIM:260920
Relapsing Fever
Leukopenia, Leukocytosis, Hematuria, Acute kidney injury, Neutrophilia, Jaundice, Anemia, Abnorma... ORPHA:91547
Sebastian syndrome
Prolonged bleeding time OMIM:605249
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, IgA deposition in the glomerulus, Gastrointestinal inflammation, Glome... ORPHA:79408
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Nephrotic syndrome, Orchitis, Peritonitis, Neutrophili... OMIM:249100
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... ORPHA:90068
Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Osteoarthritis, Pulmonary arterial hypertension, Anemia... ORPHA:355
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash ORPHA:1059
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Hypotension, Hepatocellular necrosis, Hepatic periportal necr... ORPHA:90062
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Osteomyelitis, Pustule, Stomatitis, Abscess, Skin rash OMIM:612852
Occipital Horn Syndrome
Hiatus hernia, Cholestasis, Gastroesophageal reflux, Jaundice, High, narrow palate, Hepatitis, Dy... ORPHA:198
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation OMIM:231200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Increased circulating lactate dehydrogenase concentration, Leukocytos... ORPHA:319213
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Decreased liver function, Hepatomegaly, Hepatitis, Elevated hepatic transaminase ORPHA:415
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Panniculitis, Increased proportion of CD4-positive T cells, Lymphaden... OMIM:617099
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Slc35A1-Cdg
Prolonged bleeding time, Pneumonia ORPHA:238459
Sweet Syndrome
Sterile abscess, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute myeloid leukemia, Acne... ORPHA:3243
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Hemophilia B
Prolonged bleeding time, Hematuria ORPHA:98879
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Pneumonia, Neutrophilia, Acute infectious pneumonia ORPHA:36238
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious p... ORPHA:723
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Recurrent upper respiratory tract infections, Prolonge... OMIM:614075
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation OMIM:601399
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Behçet Disease
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... ORPHA:117
Alström Syndrome
Abnormal coronary artery physiology, Hepatic failure, Recurrent cystitis, Elevated gamma-glutamyl... ORPHA:64
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Inflammation of the large int... OMIM:600903
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Proteinuria, Epididymitis, Ascites, Thrombocytopenia, Conjunctivitis, Leukopenia, N... ORPHA:99827
Wiskott-Aldrich Syndrome
Sinusitis, Blepharitis, Abnormal platelet function, Arthritis, Inflammation of the large intestin... ORPHA:906
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Recurrent pneumonia, Leukocytosis, Neutrophilia, Hepat... ORPHA:99843
Wiskott-Aldrich Syndrome
Recurrent pneumonia, Recurrent otitis media, Recurrent upper respiratory tract infections, Inflam... OMIM:301000
Yellow Fever
Acute pancreatitis, Leukocytosis, Acute kidney injury, Anuria, Neutrophilia, Pancreatic hyperplas... ORPHA:99829

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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
C4btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
C4bem2(IMPC)H Exon Deletion Mice

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