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 1.32×10-05
increased freezing behavior C4bem1(IMPC)H HOM Early adult 3.10×10-06

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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.


XRay Images Whole Body Dorso Ventral

9 Images


M-Mode Images

72 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

8 Images


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
Matching phenotypes Source
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... OMIM:614420
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Panic Disorder 1
Anxiety OMIM:167870
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupus... OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia OMIM:247800
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Lupus nephritis, Nephritis, Pericarditis, Sy... OMIM:152700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... OMIM:615559
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... ORPHA:567544
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au... ORPHA:444463
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... OMIM:613913
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... OMIM:209920
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... OMIM:607665
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Recurrent herpes, Increased circulating a... ORPHA:169160
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Granuloma, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, ... OMIM:619858
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Idiopathic Pulmonary Hemosiderosis
Autoimmune antibody positivity, Rheumatoid factor positive, Hepatosplenomegaly, Glomerulonephriti... ORPHA:99931
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Pr... OMIM:608709
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... OMIM:619263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... OMIM:304790
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Menin... OMIM:614379
Geniospasm 1
Anxiety OMIM:190100
Immunodeficiency 56
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Chronic hepatitis due to cr... OMIM:615207
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosi... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Meningitis, Hepatomegaly, Absence of lymph node germinal center, Thromboc... OMIM:308230
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo... OMIM:618999
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Arthritis, Crescentic glomerulonephritis, Antinuclear antibody positi... OMIM:616414
Complement Factor I Deficiency
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... OMIM:610984
Autosomal Agammaglobulinemia
Conjunctivitis, High palate, Osteomyelitis, Bronchiectasis, Neutropenia, Malabsorption, Skin rash... ORPHA:33110
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infections, Coombs-po... ORPHA:83471
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... OMIM:619644
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Malabsorption, Skin rash, Arthritis, Hepatiti... ORPHA:47
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... ORPHA:183675
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia OMIM:234350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duodenal atresia, Inte... OMIM:243150
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... ORPHA:572
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil ... ORPHA:93126
Nephrotic Syndrome, Type 26
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:620049
Septic arthritis, Brain abscess, Sepsis, Prostatitis, Abnormal parotid gland morphology, Hepatiti... ORPHA:31202
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Autoimmunity, Pancytopenia, Autoimmune thrombocyto... OMIM:614470
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Fat malabsorption, Jaundice, Elevated hepatic transaminase, Acholic s... OMIM:607765
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Immunodeficiency 84
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... OMIM:619437
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
African Iron Overload
Hepatic fibrosis, Hepatitis, Chronic infection, Hepatocellular carcinoma, Congestive heart failur... ORPHA:139507
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Meningitis, Hepatomegaly, Thrombocytopenia, Aplastic anemia,... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b... OMIM:601859
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Anti-acetylcholine receptor antibody positivity, Rheumatoid arthritis, Pure red cell aplasia, Aut... ORPHA:99867
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly ORPHA:60
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphad... ORPHA:829
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... ORPHA:37042
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... OMIM:613502
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:603909
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... ORPHA:49041
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Recurrent ... OMIM:608106
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... OMIM:307200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... ORPHA:567548
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Autoimmunity, Recurrent otitis media, Autoimmune hem... OMIM:615387
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Fasciitis, Inflammatory... ORPHA:39812
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Fat malabsorption, Elevated hepatic transaminase, Elevated circulating aspartate... OMIM:214950
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Hepatitis, Pyloric stenosis, Jaundice, Abnormal... ORPHA:381
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... ORPHA:848
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... ORPHA:319552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... OMIM:619220
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Stage 5 chronic kidney disease, Minimal change glomeruloneph... ORPHA:1830
Immunodeficiency 64 With Lymphoproliferation
Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Decreased proportion of CD4-positive... OMIM:618534
Nephrotic Syndrome, Type 4
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... OMIM:256370
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Elevated hepatic tran... ORPHA:79303
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Primary Biliary Cholangitis
Onychomycosis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundi... ORPHA:186
Wilson Disease
Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... ORPHA:905
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:104200
Legionnaires Disease
Hypotension, Endocarditis, Hepatitis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphopenia,... ORPHA:549
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... OMIM:613500
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... OMIM:616892
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... OMIM:617514
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, Lymphopenia, Rheumatoid factor posit... OMIM:615816
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Rheumatoid factor positive, Lymphadenopathy, Increased inflammatory r... OMIM:209950
Macrophage Activation Syndrome
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... ORPHA:158061
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... OMIM:618495
Primary Sclerosing Cholangitis
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Hepatocel... ORPHA:171
Cryoglobulinemic Vasculitis
Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Gastrointestina... ORPHA:91138
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis... ORPHA:2688
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib... ORPHA:228426
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Cardiac arrest, Skin rash, Thyroiditis, Elevated hepatic... ORPHA:139402
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso... ORPHA:391487
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... OMIM:607594
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Steatorrhea, Chronic mucocutaneous... OMIM:269200
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Congenital Enterovirus Infection
Hypotension, Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, He... ORPHA:292
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Gas... ORPHA:319218
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Jaundice, Splenic cys... ORPHA:400
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... OMIM:614921
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... OMIM:614376
Postinfectious Vasculitis
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... ORPHA:48435
Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Unusual CNS infection, Invasive pulmonary ... ORPHA:1163
Q Fever
Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Abnormal left ventricular functi... ORPHA:781
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Fasciitis, Shock, Glomerulonephritis, Myositis, Meningitis, Capill... ORPHA:36234
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Arthritis, Abnormality of the kidney, Membranopro... ORPHA:91139
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... OMIM:619381
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria OMIM:619428
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Hypersplenism, Pancytopenia, Hashimoto thyroiditis, Decreased... OMIM:613385
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Elevated ... ORPHA:101330
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatitis, Intestinal mal... ORPHA:436252
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Panniculitis, Splenomegaly OMIM:618398
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas... ORPHA:227990
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Granuloma... OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233710
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Atrophic gastritis, Leukopenia, Non-cas... ORPHA:227982
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Nephrotic syndrome, Abnormality of the kidney... ORPHA:2035
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... ORPHA:66624
Avian Influenza
Conjunctivitis, Leukopenia, Myelitis, Hepatitis, Elevated hepatic transaminase, Congestive heart ... ORPHA:454836
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... ORPHA:470
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Chronic infection, Hypersplenism, Jaundice, Reduced hemoglobin A, He... ORPHA:231226
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Chronic hepatitis OMIM:614602
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... OMIM:233690
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... OMIM:611182
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi... OMIM:618549
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... OMIM:105200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ... OMIM:610199
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, Eosinophilia, Hepatomegaly, Impai... OMIM:226990
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Autoimmune Hemolytic Anemia
Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Omenn Syndrome
Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Lymphadenopathy, Eosinophili... ORPHA:39041
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Lymphadenopathy, Hepatomega... ORPHA:85414
X-Linked Lymphoproliferative Disease
Severe Epstein Barr virus infection, T lymphocytopenia, Elevated hepatic transaminase, Hepatosple... ORPHA:2442
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:100026
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... ORPHA:2552
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hemate... OMIM:615846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... OMIM:150550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Neutropenia, Chronic k... OMIM:617056
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Brain abscess, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Unusual... ORPHA:73263
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... ORPHA:90033
Isolated Sedoheptulokinase Deficiency
Anemia, Hepatitis, Steatorrhea, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver dis... ORPHA:440713
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Myasthenia Gravis
Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Raynaud phenomenon, Myositis, Abnormality of t... ORPHA:589
Felty Syndrome
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... ORPHA:47612
Budd-Chiari Syndrome
Cirrhosis, Malabsorption, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, In... ORPHA:131
Systemic Sclerosis
Anti-centromere antibody positivity, Osteomyelitis, Acute kidney injury, Arthritis, Abnormality o... ORPHA:90291
Kawasaki Disease
Conjunctivitis, Hepatitis, Skin rash, Arthritis, Jaundice, Recurrent pharyngitis, Congestive hear... ORPHA:2331
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmunity, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmu... OMIM:613011
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Impaired collagen-indu... OMIM:614201
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Chronic active hepa... OMIM:240300
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Perinuclear antineutrophil ant... OMIM:618394
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... OMIM:619281
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Elevated hepatic transaminase, Eczema, Generalized lymphadenopathy, ... ORPHA:3260
Congenital Isolated Acth Deficiency
Hypotension, Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Raynaud phenomenon, Hypertension,... ORPHA:1855
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Macroscopic... ORPHA:251004
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Hepatitis, Skin rash, Recurrent infections, Recurrent respira... ORPHA:1334
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Achalasia, Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presenc... OMIM:615952
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Rift Valley Fever
Retinal hemorrhage, Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Severe... ORPHA:319251
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Renal insufficiency, Abnorm... OMIM:137940
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Decreased circulating antibody level, Malabsorption, Abnormal intesti... OMIM:226300
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Chronic otitis media, Bone marrow hypocellularity, He... ORPHA:3226
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
Mucopolysaccharidosis Type 7
Hepatitis, Recurrent respiratory infections, Splenomegaly ORPHA:584
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast... ORPHA:486
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hepatomegaly OMIM:238970
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neu... ORPHA:2968
Goodpasture Syndrome
Glomerular crescent formation, Anti-myeloperoxidase antibody positivity, Anemia, Cytoplasmic anti... OMIM:233450
Cirrhosis, Familial
Pulmonary arterial hypertension, Biliary cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Hyp... OMIM:215600
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... ORPHA:567546
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anemia, Anuria, Acute tubulointerstitial nephritis, Acute kidney in... ORPHA:340
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Neonatal Lupus Erythematosus
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Neutropenia, Hemolytic ane... ORPHA:398124
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... ORPHA:289390
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di... OMIM:613404
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Dec... ORPHA:169154
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Eczema, Neutropenia OMIM:300299
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t... OMIM:616100
Alstrom Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Elevated hepatic transaminase, Hypertensi... OMIM:203800
Late-Onset Isolated Acth Deficiency
Hypotension, Hepatitis, Normocytic anemia, Celiac disease, Hashimoto thyroiditis, Eosinophilia, M... ORPHA:199299
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Immunodeficiency 67
Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased... OMIM:607676
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltra... OMIM:208085
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Autoimmune antibody positivity, Bone marrow hypocellular... ORPHA:88
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Myh9-Related Disease
Nephritis, Nephropathy, Proteinuria, Prolonged bleeding time, Renal insufficiency ORPHA:182050
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia OMIM:266265
Immunodeficiency 17
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... OMIM:615607
Wilson Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Anemia, ... OMIM:277900
Relapsing Polychondritis
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Large vessel vasculitis, Arthritis, Inf... ORPHA:728
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Skin rash, Jaundice, Uveitis, P... ORPHA:509
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Im... OMIM:155100
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Post-vaccination meas... ORPHA:83597
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess... ORPHA:54251
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, Lymphopenia, Autoimmune throm... OMIM:102700
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency OMIM:161200
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excisi... OMIM:608203
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... OMIM:603903
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Prolonged neonatal jaundice, Increased hepatic echogenicity, Moderate albuminuria, Membra... OMIM:619525
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Stage 5 chronic kidney disease, Rena... OMIM:174000
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Mccune-Albright Syndrome
Gastroesophageal reflux, Hepatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hepat... ORPHA:562
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Relapsing Fever
Leukopenia, Anemia, Acute kidney injury, Jaundice, Neutrophilia, Hematuria, Leukocytosis, Abnorma... ORPHA:91547
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... OMIM:260920
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, Renal amyloidosis... OMIM:249100
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intestin... OMIM:232220
Cocaine Intoxication
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Colitis, Protei... ORPHA:90068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of the urinary system, Anemia, IgA deposition in the glomerulus, Urinary bladder sphi... ORPHA:79408
Gaucher Disease
Pulmonary arterial hypertension, Cirrhosis, Anemia, Osteomyelitis, Increased circulating antibody... ORPHA:355
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Hepatomegaly, Splenomegaly, Abscess OMIM:612852
Occipital Horn Syndrome
Gastroesophageal reflux, Recurrent urinary tract infections, Hepatitis, Jaundice, Abnormal esopha... ORPHA:198
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Rhinitis, Maculopapular exanthema, Fulminant hepatitis, Ski... ORPHA:319213
Acute Liver Failure
Hypotension, Hepatocellular necrosis, Skin rash, Hepatic necrosis, Jaundice, Elevated hepatic tra... ORPHA:90062
Psoriasis 14, Pustular
Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Psoriasiform dermatitis OMIM:614204
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function ORPHA:415
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Neutrophilia, Lymphadenopathy, Panniculitis, Leukocytosis, Increased proportion of CD4... OMIM:617099
Sweet Syndrome
Acute myeloid leukemia, Anemia, Oligoarthritis, Sterile abscess, Chronic lymphatic leukemia, Acne... ORPHA:3243
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired collagen-induce... OMIM:139090
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis, Pneumonia, Acute infectious 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
Behçet Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Meningitis, Splen... ORPHA:117
Alström Syndrome
Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomer... ORPHA:64
Crimean-Congo Hemorrhagic Fever
Hemoperitoneum, Parotitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Morbilliform rash, Epidi... ORPHA:99827
Yellow Fever
Anuria, Renal insufficiency, Pancreatic hyperplasia, Acute kidney injury, Skin rash, Jaundice, Ne... 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
C4btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
C4bem2(IMPC)H Exon Deletion Mice

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