Gene Summary

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

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 1.18×10-05

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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.

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral ischemia, ... ORPHA:117

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
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte tran... OMIM:617006
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Recurrent bacterial infections, Ne... OMIM:613779
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis medi... ORPHA:444463
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Synovitis, Abnormal glomerular mesangium morphology,... ORPHA:567544
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Nephrotic syndrome, Pr... OMIM:613913
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Villo... OMIM:209920
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Acute tubulointerstitial nephritis, Glomerulonephr... OMIM:607665
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Nephrotic syndrome, Pr... OMIM:608709
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Membranoproliferative glomerulonephritis, Chronic k... ORPHA:329918
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Neutropenia, Lymphad... OMIM:304790
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria OMIM:314000
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Antineutrophil antibody positivi... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Chronic hepatitis, Cirrhosis, Inc... OMIM:308230
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Nephro... OMIM:618999
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthr... OMIM:616414
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Meningitis, Hepatiti... ORPHA:33110
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
X-Linked Agammaglobulinemia
Abnormality of the lymphatic system, Skin rash, Abnormality of the tonsils, Chronic otitis media,... ORPHA:47
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Melioidosis
Prostatitis, Cutaneous abscess, Unusual skin infection, Splenic abscess, Abnormality of the splee... ORPHA:31202
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Neutrope... OMIM:614470
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Neutropenia, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Increased circulatin... OMIM:308240
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
African Iron Overload
Peritonitis, Micronodular cirrhosis, Esophageal carcinoma, Viral hepatitis, Hepatocellular carcin... ORPHA:139507
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Lymphadenopathy, Eosinophilia, Iron deficiency anemia, Autoimmune thrombo... OMIM:603909
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Prolonged neonatal... OMIM:214950
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der... ORPHA:37042
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Adult-Onset Still Disease
Skin rash, Pericarditis, Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy... ORPHA:829
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Pyoderma, P... OMIM:300755
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Renal insufficiency, Systemic lupus erythematosus, Antineutrophil... ORPHA:49041
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Autoimmunity, Abnormal proportion of naive CD4 T cells, Lymph... ORPHA:1830
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormality of the... ORPHA:39812
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Histoplasmosis, Lymphade... ORPHA:319552
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Eosinophilopenia
Autoimmunity, Decreased eosinophil count, Allergic rhinitis OMIM:131430
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Recurrent fungal infec... ORPHA:186
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Intestinal malrotation, Hypoplasi... OMIM:243150
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hypotension, Lymphopenia, Jaundice, Hepatitis, Splenomega... ORPHA:549
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic hepati... OMIM:269200
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Bronchiectasis, Lymphopenia, Neutropenia, Membranoproliferat... OMIM:615816
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Acute hepatic failure, Neutropenia in presence of anti-neutropil antibodi... ORPHA:228426
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Viral hepatitis, Hepatomegaly, Keratoc... ORPHA:91138
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Pulmonary arterial hypertension, Eczema, Recurrent herpes, Recurrent... ORPHA:391487
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... OMIM:607594
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Interstitial p... ORPHA:449395
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent pneumonia, Partial absence of specific antibody response to uncon... OMIM:240500
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Congenital Enterovirus Infection
Skin rash, Hypotension, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, T... ORPHA:292
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Hepatitis OMIM:614602
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 50
Eczema, Lymphopenia, Recurrent urinary tract infections, Neutropenia OMIM:300988
Cystic Echinococcosis
Peritoneal abscess, Hepatic cysts, Abnormality of the peritoneum, Membranous nephropathy, Biliary... ORPHA:400
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasi... OMIM:614921
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Myocarditis, Shock, Sinusi... ORPHA:36234
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Palmar telangiectasia, Cirrhosis, Uveitis, Ac... ORPHA:171
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Q Fever
Pericarditis, Abnormal left ventricular function, Pneumonia, Maculopapular exanthema, Anemia, Myo... ORPHA:781
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Anemia, Hypersplenism, Leukopenia, Myocarditis, Ante... ORPHA:1304
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Aspergillosis
Osteomyelitis, Increased circulating IgE level, Bronchiectasis, Intracranial hemorrhage, Unusual ... ORPHA:1163
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper T cells,... OMIM:300853
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Peritoneal abscess, Autoimmune hemolytic anemia, Intestinal malrotation... ORPHA:436252
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, P... OMIM:105200
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233710
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decreased ... OMIM:613385
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227990
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Lysinuric Protein Intolerance
Argininuria, Anemia, Leukopenia, Hyperlysinuria, Hemophagocytosis, Cirrhosis, Abnormal renal tubu... ORPHA:470
Autoimmune Hemolytic Anemia
Abnormal urinary color, Hemolytic anemia, Autoimmunity, Splenomegaly, Abnormal leukocyte morphology ORPHA:98375
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis ORPHA:525
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Increased cir... ORPHA:562639
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Persistence of hemoglobin F, Decreased mean... ORPHA:231226
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Osteomyelitis, Recurrent Staphylococcus aureus infections, Recu... OMIM:306400
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Omenn Syndrome
Leukocytosis, Autoimmunity, Abnormal lymphocyte morphology, Thyroiditis, Erythroderma, Pneumonia,... ORPHA:39041
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior uvei... ORPHA:85414
Lymphatic Filariasis
Epididymitis, Hematuria, Urethral obstruction, Lymphadenitis, Orchitis, Glomerulonephritis, Lymph... ORPHA:2035
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly, Ly... OMIM:619164
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, ... ORPHA:90033
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227982
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Avian Influenza
Myelitis, Elevated hepatic transaminase, Lymphopenia, Increased circulating lactate dehydrogenase... ORPHA:454836
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased basophil count, Ulcerative coli... OMIM:618394
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Gout, Renal cyst, Chronic kidney di... OMIM:617056
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal lymph... ORPHA:100026
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Myocarditis, Increased B ce... ORPHA:2442
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Decreased proportion of C... OMIM:613011
Felty Syndrome
Recurrent pneumonia, Pericarditis, Autoimmunity, Abnormal lymphocyte morphology, Chronic otitis m... ORPHA:47612
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Dysphagia, Rheumatoid arthritis, Hashimoto thyroiditis, ... ORPHA:589
Congenital Isolated Acth Deficiency
Hypotension, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Systemic Sclerosis
Abnormality of the kidney, Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Anti-ce... ORPHA:90291
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atrophic gastritis, Ch... OMIM:240300
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Gastrointesti... ORPHA:131
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, An... ORPHA:440713
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract... OMIM:615952
Fechtner syndrome
Prolonged bleeding time, Hematuria, Stage 5 chronic kidney disease, Nephritis, Proteinuria OMIM:153640
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Chronic kidney disease, Pulmonary lymphangiectasia, Abn... OMIM:137940
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Pulmonary embolism,... ORPHA:3260
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Hepatomegaly, Splen... ORPHA:98848
Spondyloenchondrodysplasia
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pneumonia, Hypertension, Pan... ORPHA:1855
Kawasaki Disease
Skin rash, Arrhythmia, Glossitis, Pericarditis, Leukocytosis, Cholecystitis, Cheilitis, Meningiti... ORPHA:2331
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Neutropenia, Melena, Myocarditis, Sinusitis, Endocarditis, Sp... ORPHA:73263
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, ... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Chronic Mucocutaneous Candidiasis
Skin rash, Recurrent urinary tract infections, Cheilitis, Hepatitis, Recurrent infections, Recurr... ORPHA:1334
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Giant cell hepatitis OMIM:613404
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Mucopolysaccharidosis Type 7
Hepatitis, Recurrent respiratory infections, Splenomegaly ORPHA:584
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Cystic Fibrosis
Exocrine pancreatic insufficiency, Decreased circulating antibody level, Biliary cirrhosis, Hepat... ORPHA:586
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Farber Lipogranulomatosis
Hepatomegaly, Arthritis, Lipogranulomatosis, Splenomegaly OMIM:228000
Goodpasture Syndrome
Erythrocyte cylindruria, Cylindruria, Anti-myeloperoxidase antibody positivity, Glomerulonephriti... OMIM:233450
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Uveitis, Pancytopenia, Hepatomegaly, Aplastic anemia, Asci... OMIM:615122
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... ORPHA:486
Wilson Disease
Cirrhosis, Hemolytic anemia, Dysphagia, Hepatocellular carcinoma, Esophageal varix, Hepatomegaly,... OMIM:277900
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Increased urinary p... OMIM:618892
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Methylmalonic acid... ORPHA:859
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension, Hashimoto thyroiditis, Normocytic anemia, Hepatitis, Sepsis... ORPHA:199299
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Giant cell hepatitis OMIM:208085
Alstrom Syndrome
Nephritis, Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hypertensi... OMIM:203800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Bronchiectasis, Lymphadenitis, Lymphopenia, Recurrent otitis me... OMIM:618986
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Nodular Non-Suppurative Panniculitis
Autoimmunity, Panniculitis, Hepatomegaly, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Budd-Chiari syndrom... OMIM:226300
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Prolonged bleeding time OMIM:600208
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Large vessel vasculitis, Uveitis, Conju... ORPHA:728
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Prolidase Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Thrombocytopenia, Hepatomegaly, Prolonged neon... OMIM:170100
Myh9-Related Disease
Prolonged bleeding time, Nephropathy, Renal insufficiency, Nephritis, Proteinuria ORPHA:182050
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Hepatomegaly, Splenomegaly, Myositis, Lymphadenopathy OMIM:619183
Leptospirosis
Pulmonary hemorrhage, Skin rash, Arrhythmia, Elevated serum transaminases during infections, Peri... ORPHA:509
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Chronic otitis media, Pneumonia, Thrombocytopenia, Hepatomegaly, ... ORPHA:169090
Glanzmann Thrombasthenia
Macroscopic hematuria, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Acute Disseminated Encephalomyelitis
Myelitis, Severe Epstein Barr virus infection, Disseminated viral infection, Viral hepatitis, Sev... ORPHA:83597
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abno... ORPHA:54251
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Juvenile Idiopathic Arthritis
Skin rash, Autoimmunity, Uveitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Psoria... ORPHA:92
American Trypanosomiasis
Skin rash, Hepatomegaly, Autoimmune antibody positivity, Encephalitis, Splenomegaly, Myocarditis,... ORPHA:3386
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Autoimmunity, Nephropathy, Hepatomegaly, Keratoconjunc... ORPHA:809
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Majeed Syndrome
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... ORPHA:77297
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym... OMIM:613179
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision cir... OMIM:608203
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Mccune-Albright Syndrome
Hepatocellular adenoma, Gastroesophageal reflux, Cholestasis, Pancytopenia, Hepatitis, Pancreatit... ORPHA:562
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Renal angiomyolipoma, Elevated ... OMIM:260920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Ren... ORPHA:79408
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Anemia, Leukopenia, Eczema, Lymphadenopathy, Recurrent otitis media, Pan... OMIM:615688
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Sebastian syndrome
Prolonged bleeding time OMIM:605249
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Gaucher Disease
Cirrhosis, Dysphagia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Hepat... ORPHA:355
Cocaine Intoxication
Hematuria, Acute kidney injury, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Protei... ORPHA:90068
Relapsing Fever
Hematuria, Acute kidney injury, Leukocytosis, Abnormality of the urinary system, Thrombocytopenia... ORPHA:91547
Familial Mediterranean Fever
Peritonitis, Pericarditis, Renal amyloidosis, Leukocytosis, Orchitis, Hepatomegaly, Nephrotic syn... OMIM:249100
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Occipital Horn Syndrome
Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Recurrent urinary tract infection... ORPHA:198
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Stomatitis, Hepatomegaly, Splenomegaly, Neutrophilia, Abscess, Osteomyelitis OMIM:612852
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time OMIM:231200
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Oligoarthritis, Neutrophilia, Psoriasiform dermatitis OMIM:614204
Acute Liver Failure
Skin rash, Hepatocellular necrosis, Gastrointestinal hemorrhage, Elevated hepatic transaminase, I... ORPHA:90062
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Chronic otitis media,... ORPHA:1572
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Blue Rubber Bleb Nevus
Skin rash, Prolonged bleeding time ORPHA:1059
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells, Neutrophilia... OMIM:617099
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Recurrent upper respiratory t... OMIM:614075
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Glomerular sclerosi... OMIM:276700
Sweet Syndrome
Inflammation of the large intestine, Pustule, Leukocytosis, Chronic lymphatic leukemia, Panniculi... 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
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pustule, Abnormality of the lymph nodes, Generalized lymphadenopathy, N... ORPHA:50918
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Slc35A1-Cdg
Prolonged bleeding time, Pneumonia ORPHA:238459
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Prolonged bleeding time OMIM:277480
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Pneumocystosis
Acute infectious pneumonia, Abnormal neutrophil count, Chronic oral candidiasis, Interstitial pne... ORPHA:723
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Acute infectious pneumonia, Pneumonia, Leukopenia, Neutrophilia ORPHA:36238
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time OMIM:601399
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Alström Syndrome
Recurrent urinary tract infections, Abnormal liver physiology, Pulmonary arterial hypertension, A... ORPHA:64
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Prolonged bleeding time, Recurrent upper respiratory tract i... OMIM:600903
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral ischemia, ... ORPHA:117
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent herpes, Prolonged bleeding time, Recurrent upper r... OMIM:301000
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Leukocytosis, Recurrent otitis media, Recurrent urinary ... ORPHA:99843
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal platelet function, Prolonged bleeding time, Chronic... ORPHA:906
Japanese Encephalitis
Neutrophilia, Encephalitis ORPHA:79139

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.

Order Mouse and ES Cells

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

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