Gene: Csmd3 MGI:2386403

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Gene Summary

Name:
CUB and Sushi multiple domains 3
Synonyms:
4930500N14Rik

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
limb grasping Csmd3em1(IMPC)Mbp HOM   Early adult 3.83×10-05
abnormal coat/ hair morphology Csmd3em1(IMPC)Mbp HOM Middle aged adult 3.31×10-05
abnormal spleen morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
increased circulating bilirubin level Csmd3em1(IMPC)Mbp HOM Early adult 3.64×10-06
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
decreased total body fat amount Csmd3em1(IMPC)Mbp HOM Early adult 4.35×10-05
abnormal lymph node morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Csmd3em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Csmd3em1(IMPC)Mbp HOM   Early adult 8.68×10-05
increased lean body mass Csmd3em1(IMPC)Mbp HOM Early adult 4.45×10-05
eye hemorrhage Csmd3em1(IMPC)Mbp HOM Late adult 9.34×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Csmd3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Csmd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Afibrinogenemia, Congenital
Abnormal bleeding, Splenic rupture OMIM:202400
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Tremor, Unconjugated hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Kerion Celsi
Lymphadenopathy ORPHA:499
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Abnormal ly... ORPHA:464329
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
Marburg Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocytopenia, Jau... ORPHA:99826
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae... OMIM:612840
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Lymphadenopathy, Splenomegaly ORPHA:79292
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity OMIM:609734
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Lcat Deficiency
Hemolytic anemia, Hypertension, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:650
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia, Failure to thrive OMIM:614300
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Leu... ORPHA:340
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia ORPHA:101009
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia ORPHA:95717
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Candidiasis, Familial, 2
Hypereosinophilia, Lymphadenopathy OMIM:212050
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, Absen... ORPHA:277
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Infantile Sialic Acid Storage Disease
Osteopenia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:269920
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Lymphadenopathy ORPHA:37748
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Brui... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Rhabdoid Tumor
Internal hemorrhage, Neoplasm of the liver, Hypertension, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Primary Myelofibrosis
Poikilocytosis, Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedull... ORPHA:824
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Petechiae, Splenomegaly, Lym... ORPHA:79477
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Vasculitis, Lymphadenopathy OMIM:617718
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Thromboc... ORPHA:509
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy ORPHA:50251
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Failure to thrive, Hypocholesterolemia OMIM:607765
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Failure to thrive OMIM:214950
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Petechiae, Splenomegal... ORPHA:158029
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Leukocytosis, Oral cavity bleeding, Neutropenia, Epistaxi... ORPHA:520
Hypermanganesemia With Dystonia 1
Tremor, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Leishmaniasis
Abnormal bleeding, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, ... ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... ORPHA:54251
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Delayed proximal femoral e... ORPHA:95716
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestational age, Failure to... ORPHA:73272
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Nephroblastoma
Hypertension, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Intrahepatic Cholestasis Of Pregnancy
Tremor, Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Failure to thrive OMIM:211600
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy ORPHA:26790
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Failure to thrive OMIM:235555
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Failure to thrive OMIM:613404
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Tach... ORPHA:3392
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal ... ORPHA:86839
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:858
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Failure to thrive OMIM:606812
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Pyruvate Carboxylase Deficiency
Tremor, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic ... ORPHA:3008
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H... ORPHA:33226
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bleeding, Decreased proportion of CD4-positive helper T cells, Bru... ORPHA:101096
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Osteopetrosis OMIM:259720
American Trypanosomiasis
Arrhythmia, Lymphadenopathy, Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, C... ORPHA:3386
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Failure to thrive OMIM:208085
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Petechiae, Leukopenia, Vasculitis, Cervical lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Failure to thrive OMIM:251880
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Vitreoretinochoroidopathy
Retinal neovascularization, Vitreous hemorrhage OMIM:193220
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Neoplasm of the... ORPHA:83469
Graft Versus Host Disease
Lipodystrophy, Hyperbilirubinemia, Dupuytren contracture, Failure to thrive, Fasciitis ORPHA:39812
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Vasculitis, Lymphadenopathy ORPHA:343
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Failure to thrive OMIM:601847
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Decreased body weight, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Scrub Typhus
Abnormal bleeding, Hypotension, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:83317
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Cystic Echinococcosis
Bone cyst, Hyperbilirubinemia, Weight loss ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leukopenia, Sple... ORPHA:381
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:616651
Retinoblastoma
Vitreous hemorrhage, Hyphema, Leukemia, Subretinal pigment epithelium hemorrhage ORPHA:790
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Prolonged bleeding time, Purpura, Gastrointestinal hemorrhage, Pu... ORPHA:809
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy ORPHA:353298
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Chronic noninfectious lymphadenopathy, Tric... ORPHA:100080
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Decreased plasma free carnitine, Ele... OMIM:608836
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sp... ORPHA:829
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hemophagocytosis, Purpura, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Pet... ORPHA:540
Cinca Syndrome
Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly,... ORPHA:1451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, ... ORPHA:90673
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Carney Triad
Arrhythmia, Gastrointestinal hemorrhage, Hypertension, Tachycardia, Anemia, Mediastinal lymphaden... ORPHA:139411
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Hemothorax, Diffuse alveolar hemor... ORPHA:199241
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Thr... ORPHA:2686
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Chronic noninfectious lymphad... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Chronic noninfectious lymphad... ORPHA:100082
Legionnaires Disease
Arrhythmia, Pericarditis, Hypotension, Myocarditis, Lymphopenia, Jaundice, Hepatitis, Pancreatiti... ORPHA:549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Lymphadenopathy, Thrombo... ORPHA:98849
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonata... ORPHA:90674
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Hardikar Syndrome
Hyperbilirubinemia, Failure to thrive OMIM:612726
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Abnormal natural... ORPHA:79124
Carcinoid Syndrome
Palpitations, Right ventricular failure, Chronic noninfectious lymphadenopathy, Tricuspid regurgi... ORPHA:100093
Thymoma
Hemolytic anemia, Pericarditis, Abnormal lymphocyte morphology, Abnormality of the peritoneum, Ne... ORPHA:99867
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Abnormality of the liver ORPHA:33276
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Lassa Fever
Thrombocytopenia, Gastrointestinal hemorrhage, Leukopenia, Lymphadenopathy ORPHA:99824
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Hepatic amyloidosis, Cervical lymphadenopathy, Gastrointestinal hemorrhage OMIM:142680
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Castleman Disease
Restrictive cardiomyopathy, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia... ORPHA:160
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Neutrophilia, Vasculitis, Lymphadenop... OMIM:617099
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lig4 Syndrome
Leukocytosis, Telangiectasia of the skin, Pancytopenia, Hepatomegaly, Acute leukemia, Lymphadenop... ORPHA:99812
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrh... OMIM:192315
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Cervical lymph... ORPHA:514
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Cardiogenic shock, Palpitations, Increased hematocrit, Arrhythmia, Right ... ORPHA:100076
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Purpura, Lymphopenia, Splenomegaly, Vasculitis, Ab... ORPHA:1572
Primary Biliary Cholangitis
Osteoporosis, Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentr... ORPHA:186
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Neoplasm of the ... ORPHA:1333
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Increased erythrocyte protoporphyrin concentration, Increased connectiv... ORPHA:79277
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Palpitations, Cardiogenic shock, Arrhythmia, Right ventricular failure, E... ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Palpitations, Cardiogenic shock, Arrhythmia, Right ventricular failure, E... ORPHA:100077
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Lymphadenopathy,... ORPHA:2442
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Primary Hepatic Neuroendocrine Carcinoma
Palpitations, Right ventricular failure, Hepatic cysts, Chronic noninfectious lymphadenopathy, In... ORPHA:100085
Lathosterolosis
Osteoporosis, Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Small for gestational age, Hyperlipidemia, Abnormal circulating fa... ORPHA:567983
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Failure to thrive, Hyperuric... OMIM:229600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Purpura, Leukocytosis, Lymphopenia, Raynaud phenomenon, Hypertension, Pancytopeni... OMIM:615688
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Chronic noninfectious ly... ORPHA:97287
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... OMIM:615934
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Lymphadenopathy, Hepatitis, Cardiac arrest, Myocarditis, Eosinophilia ORPHA:139402
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Small vessel vasculitis, Lymphadenopathy, Splenomegaly ORPHA:36412
Q Fever
Pericarditis, Purpura, Abnormal left ventricular function, Thrombocytopenia, Hepatomegaly, Hepati... ORPHA:781
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia OMIM:300908
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Lymph node hypoplasia OMIM:300755
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, ... ORPHA:100075
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Pancr... ORPHA:97289
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Gastrointestinal hemorrhage OMIM:177850
Isolated Biliary Atresia
Severe failure to thrive, Conjugated hyperbilirubinemia, Small for gestational age, Failure to th... ORPHA:30391
Kikuchi-Fujimoto Disease
Lymphocytosis, Vasculitis in the skin, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:50918
Cranioectodermal Dysplasia 2
Craniosynostosis, Inguinal hernia, Hyperbilirubinemia OMIM:613610
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, ... OMIM:610377
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia, Failure to thrive OMIM:210550
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Weight loss, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal bleeding, Vacuolated lymphoc... ORPHA:167
Caroli Disease
Conjugated hyperbilirubinemia, Weight loss ORPHA:53035
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Bruising susceptibility... ORPHA:758
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Histiocytosis, Pulmonic stenosis, Pancreatic hypoplasia, Splenomegaly, Pulmonary ar... OMIM:602782
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia,... ORPHA:93552
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Umbilical hernia OMIM:218700
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Lymphadenopathy ORPHA:79126
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hepatitis, ... ORPHA:3260
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Aortic valve stenosis, Asplenia, Pulmonic stenosis ORPHA:261552
H Syndrome
Microcytic anemia, Abnormal cardiovascular system physiology, Histiocytosis, Facial telangiectasi... ORPHA:168569
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Granulomatosis OMIM:608710
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Purpura, Lymphopenia, Neutropenia, Raynaud phenom... OMIM:607944
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Thrombocytosis, Lymphadenopathy ORPHA:2905
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Pericarditis, Leukocytosis, Splenomegaly, Vasculitis, Bruising susceptibility, Lymph... ORPHA:32960
Familial Mediterranean Fever
Peritonitis, Arrhythmia, Pericarditis, Myocardial infarction, Pancreatitis, Splenomegaly, Vasculi... ORPHA:342
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hepatic fibrosis, Anemia, Hepa... ORPHA:333
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia, Hepat... ORPHA:31150
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Chikungunya
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Lymphadenopathy, Petechiae, Gingival bleeding, ... ORPHA:324625
Cockayne Syndrome Type 3
Subdural hemorrhage, Hepatomegaly, Increased blood pressure, Splenomegaly, Retinal hemorrhage, Ca... ORPHA:90324
Coccidioidomycosis
Peritonitis, Pericarditis, Lymphadenopathy, Vasospasm, Cerebral ischemia, Pancreatitis, Mediastin... ORPHA:228123
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Gastrointes... ORPHA:538
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphade... ORPHA:2035
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Brucellosis
Thrombocytosis, Arteritis, Pericarditis, Purpura, Leukocytosis, Thrombocytopenia, Hepatomegaly, A... ORPHA:1304
Behçet Disease
Pericarditis, Aortic regurgitation, Gastrointestinal hemorrhage, Pulmonary embolism, Myocardial i... ORPHA:117
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
Neuroendocrine Neoplasm Of Appendix
Palpitations, Hypotension, Chronic noninfectious lymphadenopathy, Hepatomegaly, Tricuspid stenosi... ORPHA:100079
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Anemia, Lymphadenopathy ORPHA:85408
Cherubism
Submandibular lymph node enlargement OMIM:118400
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Incontinentia Pigmenti
Leukocytosis, Retinal hemorrhage, Eosinophilia OMIM:308300
Primary Sjögren Syndrome
Arteritis, Chronic active hepatitis, Purpura, Decreased proportion of CD4-positive helper T cells... ORPHA:289390
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia, Normocytic anemia ORPHA:91500
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Splenomegaly, Pulmonary arterial hypertension, Bruising susceptibility, Lym... ORPHA:667
Hennekam Syndrome
Lymphopenia, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma, Lymphadenopathy ORPHA:2136
Kawasaki Disease
Arrhythmia, Pericarditis, Leukocytosis, Jaundice, Hepatitis, Congestive heart failure, Cholecysti... ORPHA:2331
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Arteritis, Pericarditis, Lymphadenitis, Sclerosing cholangit... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Igg4-Related Submandibular Gland Disease
Lymphadenopathy, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fibrosis, Eosinophilia ORPHA:449432
Riddle Syndrome
Conjunctival telangiectasia, Telangiectasia, Generalized lymphadenopathy, Intraventricular hemorr... ORPHA:420741
Sarcoidosis
Arrhythmia, Hemolytic anemia, Increased T cell count, Heart block, Abnormal cardiac ventricular f... ORPHA:797
Malakoplakia
Abnormal bleeding, Follicular hyperplasia ORPHA:556
Cockayne Syndrome
Hepatomegaly, Retinal hemorrhage, Hypertension, Splenomegaly ORPHA:191
Blau Syndrome
Pericarditis, Large vessel vasculitis, Hypertension, Anemia, Splenomegaly, Pulmonary arterial hyp... ORPHA:90340
Plague
Abnormal bleeding, Arrhythmia, Hematemesis, Lymphadenitis, Hypotension, Hepatomegaly, Tachycardia... ORPHA:707
Trichinellosis
Retinal hemorrhage ORPHA:863
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Pulmonary arterial hypertension, Pancytopenia, Hepatomegaly, Splenom... OMIM:181000
African Trypanosomiasis
Abnormal EKG, Arrhythmia, Pericarditis, Hepatomegaly, Jaundice, Congestive heart failure, Third d... ORPHA:3385
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Hypertensive crisis, Neoplasm of the... ORPHA:653
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Microcytic anemia, Thrombocytopenia, Hepatomegaly, Congestive heart failure, Splenome... OMIM:256040
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Cholangitis, Pancreatitis, Retroperitoneal fibrosis, Eosinophilia ORPHA:449563
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Hepatic calcification, Pancreatic calcificat... ORPHA:51608

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 Csmd3

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 Csmd3.

No publications found that use IMPC mice or data for Csmd3.

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MGI Allele Allele Type Produced
Csmd3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csmd3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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