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Gene: Csmd3 MGI:2386403

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased circulating bilirubin level Csmd3em1(IMPC)Mbp HOM Early adult 1.03×10-09
increased lean body mass Csmd3em1(IMPC)Mbp HOM Early adult 4.14×10-05
decreased grip strength Csmd3em1(IMPC)Mbp HOM Middle aged adult 9.95×10-05
eye hemorrhage Csmd3em1(IMPC)Mbp HOM Late adult 5.97×10-05
abnormal coat/ hair morphology Csmd3em1(IMPC)Mbp HOM Middle aged adult 2.96×10-05
increased bone mineral content Csmd3em1(IMPC)Mbp HOM   Early adult 2.44×10-05
abnormal lymph node morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
limb grasping Csmd3em1(IMPC)Mbp HOM   Early adult 3.21×10-05
decreased total body fat amount Csmd3em1(IMPC)Mbp HOM Early adult 4.03×10-05
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Csmd3em1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Csmd3em1(IMPC)Mbp HOM Middle aged adult 8.37×10-07
decreased circulating HDL cholesterol level Csmd3em1(IMPC)Mbp HOM Early adult 7.03×10-07
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00

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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

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

2 Images

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Histopathology

Images

1 Images

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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
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Kerion Celsi
Lymphadenopathy ORPHA:499
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Conjugated... OMIM:619868
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Decreased proportion of CD4-positive... ORPHA:543
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal spl... ORPHA:464329
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,... OMIM:612840
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Petechiae, Gingival bleeding, Epistaxis, Ecchymosis, Inguinal lymphadenopathy, Cervical l... OMIM:620514
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski... OMIM:617718
Fish-Eye Disease
Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Dystonia, Hyperprolinemia OMIM:616299
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... ORPHA:99827
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Intention tremor OMIM:610539
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy, Pulmonary arterial hypertension OMIM:234810
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Hypertension, Asplenia, Epistaxis, Coombs-positive hemolytic anemi... OMIM:614034
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Infantile Sialic Acid Storage Disease
Osteopenia, Failure to thrive, Conjugated hyperbilirubinemia OMIM:269920
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Failure to thrive, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Elevated circul... OMIM:614300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae... ORPHA:824
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
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
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy ORPHA:50251
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly ORPHA:37748
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thri... ORPHA:79303
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen... ORPHA:277
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,... ORPHA:79477
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, ... OMIM:227810
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ... ORPHA:99826
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Steatorrhea, Hyperbilirubinemia OMIM:235555
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Thrombocytopen... ORPHA:319213
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Compulsive behaviors, Short attention span, Obesity, Attention deficit ... ORPHA:444002
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Retinal... ORPHA:464321
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He... ORPHA:294
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Gingival bleeding, ... ORPHA:520
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morph... ORPHA:507
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Thrombocy... ORPHA:509
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Hsd10 Disease
Postnatal growth retardation, Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... ORPHA:168782
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding ORPHA:424019
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia, Tremor, Small for gestational age ORPHA:69665
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... ORPHA:340
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Short stature, Obesity, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level OMIM:609734
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Conjugated hyperbilirubinemia OMIM:619484
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va... OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Nephroblastoma
Neoplasm of the liver, Hypertension, Lymphadenopathy ORPHA:654
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin concentratio... ORPHA:95716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Short stature, Obesity, Ab... ORPHA:3077
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P... ORPHA:98850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Failure to thrive, Neonatal hyperbilirubinemia, Truncal obesity, Small for gestatio... ORPHA:73272
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal... OMIM:615122
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... ORPHA:79456
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Boutonneuse Fever
Lymphadenopathy, Petechiae, Vasculitis, Thrombocytopenia, Leukopenia, Cervical lymphadenopathy ORPHA:83313
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein concentr... OMIM:617049
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal... ORPHA:3386
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD... ORPHA:101096
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden... ORPHA:33226
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit... ORPHA:40923
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Cognitive i... ORPHA:309246
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Conjugated hyperbilirubinemia OMIM:601847
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Scrub Typhus
Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly ORPHA:83317
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Graft Versus Host Disease
Dupuytren contracture, Hyperbilirubinemia, Failure to thrive, Lipodystrophy, Fasciitis ORPHA:39812
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Lymphadenopathy, Vasculitis, Peritonitis ORPHA:343
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:613404
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum... OMIM:617156
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telangiectasia, Hepatic ne... ORPHA:100093
Abetalipoproteinemia
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilir... ORPHA:14
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation... ORPHA:100080
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Steatorrhea, Hyperbilirubinemia OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, T... ORPHA:381
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia OMIM:616651
Cystic Echinococcosis
Bone cyst, Hyperbilirubinemia, Weight loss ORPHA:400
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul... ORPHA:199241
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir... OMIM:608836
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Mitral regurgitation OMIM:619750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Failure to thrive, Hyponatremia... OMIM:603553
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Osteoporosis OMIM:607330
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hypotension, Tricuspid regurgitation... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hypotension, Tricuspid regurgitation... ORPHA:100082
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... ORPHA:809
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Hypocalcemia, Hyperbilirubin... OMIM:259720
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Arthrogryposis multiplex congenita, Small for gestational age, Conjugated hype... OMIM:208085
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Failure to thrive, Delayed proximal femoral epi... ORPHA:90674
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Purpura, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenop... ORPHA:540
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum... OMIM:617093
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal lymph node morpholo... ORPHA:85450
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal... OMIM:257200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Cinca Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Sp... ORPHA:1451
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificati... ORPHA:90673
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage OMIM:611773
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Tremor, Oste... OMIM:277900
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P... ORPHA:549
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymph... OMIM:615895
Carney Triad
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Hypertension, ... ORPHA:139411
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Throm... ORPHA:160
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Weight loss, Unconjugated hyperbilirubinemia OMIM:613673
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatospleno... ORPHA:457077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Motor stereotypy, Mild postnat... ORPHA:530983
Retinoblastoma
Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia ORPHA:790
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein co... OMIM:251880
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Tricuspid regurgitation, Retinal hemorrhage, Hepatic sinusoidal dilat... OMIM:620371
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Small for gestational age OMIM:224120
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Portal hyperten... ORPHA:79124
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia OMIM:606812
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax... OMIM:214500
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Papa Syndrome
Lymphadenopathy ORPHA:69126
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Tremor, Intention tremor,... OMIM:212065
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Athetosis, ... OMIM:614866
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculitis skin... OMIM:192315
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph... OMIM:617099
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph... ORPHA:514
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Conjugated hype... ORPHA:186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Inguinal hernia, Hypocalcemia, Unconjugated hy... OMIM:613658
Common Variable Immunodeficiency
Purpura, Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoim... ORPHA:1572
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Telangiectasia of the ... ORPHA:99812
Neuroendocrine Tumor Of Stomach
Hematemesis, Hepatomegaly, Iron deficiency anemia, Melena, Chronic noninfectious lymphadenopathy,... ORPHA:100075
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial... ORPHA:97287
Acute Generalized Exanthematous Pustulosis
Purpura, Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Atelis Syndrome 2
Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage OMIM:620185
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Choreoacanthocytosis
Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Emotional l... ORPHA:2388
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Eosinophilia, Hepatitis ORPHA:139402
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Palpitations, Biliary tract obstruction, Intrahepatic cholestasis with episodic jau... ORPHA:100085
Isolated Biliary Atresia
Xanthelasma, Severe failure to thrive, Failure to thrive, Conjugated hyperbilirubinemia, Small fo... ORPHA:30391
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Q Fever
Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, ... ORPHA:781
Congenital Erythropoietic Porphyria
Osteopenia, Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin lev... ORPHA:79277
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:36412
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin... ORPHA:97289
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis... OMIM:615934
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Righ... ORPHA:100078
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Hypertension, Leukocyto... OMIM:615688
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Steatorrhea, Hyperbilirubinemia, Small for gestational age OMIM:557000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Torticollis, Hyperbilirubinemia, Decreased body weight, Intention tremor, Failu... OMIM:619475
Alg12-Cdg
Abnormal bone ossification, Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive,... ORPHA:79324
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, ... ORPHA:96180
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage OMIM:177850
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding ORPHA:424016
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteoporosis, Unconjugated hyperbilirubinemia ORPHA:232
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Abnormal ... ORPHA:3261
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Acute Interstitial Pneumonia
Reduced hematocrit, Hypertension, Lymphadenopathy ORPHA:79126
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Failure to thrive, Hypophosphatemia OMIM:229600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Ogden Syndrome
Torticollis, Inguinal hernia, Hyperbilirubinemia, Minimal subcutaneous fat, Umbilical hernia OMIM:300855
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Umbilical hernia OMIM:218700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Childhood Absence Epilepsy
Depression, Attention deficit hyperactivity disorder, Punding, Abnormal social behavior ORPHA:64280
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Obesity, Abnormal aggressive, impulsive or violent behavi... ORPHA:96263
Caroli Disease
Conjugated hyperbilirubinemia, Weight loss ORPHA:53035
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly... OMIM:300755
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Fg Syndrome Type 1
Abnormal social behavior, Hydrocephalus, Compulsive behaviors, Short stature, Slender build, Atte... ORPHA:93932
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microangiopathic ... ORPHA:93552
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Depression, E... ORPHA:309271
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Short sta... ORPHA:177907
Chédiak-Higashi Syndrome
Abnormal bleeding, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, ... ORPHA:167
Cranioectodermal Dysplasia 2
Craniosynostosis, Hyperbilirubinemia, Inguinal hernia OMIM:613610
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hypertension, Pulmonic s... OMIM:602782
Neuroblastoma
Abnormal bleeding, Anemia, Lymphadenopathy, Hypertension, Thrombocytopenia ORPHA:635
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Congenital Syphilis
Myocarditis, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Prolonged neonatal jaundi... ORPHA:499009
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Degcags Syndrome
Osteopenia, Hyperbilirubinemia, Failure to thrive, Craniosynostosis, Small for gestational age, H... OMIM:619488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attac... ORPHA:3260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Reynolds Syndrome
Hyperbilirubinemia, Steatorrhea, Calcinosis OMIM:613471
Hardikar Syndrome
Failure to thrive, Hyperbilirubinemia, Osteoporosis, Umbilical hernia OMIM:301068
Rift Valley Fever
Hematemesis, Abnormal bleeding, Jaundice, Anemia, Melena, Gingival bleeding, Retinal hemorrhage, ... ORPHA:319251
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Polycythemia, Splenomegaly, Throm... ORPHA:2905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Shoulder flexion contracture, Hyperbilirubinemia, Elbow flexion ... OMIM:210710
Liver Disease, Severe Congenital
Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Failure to t... OMIM:619991
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses OMIM:208500
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Short attention span, Abnormal social ... ORPHA:309263
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:306400
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Lymphadenopathy, T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thromboc... OMIM:607944
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
H Syndrome
Lymphadenopathy, Abnormal cardiovascular system physiology, Facial telangiectasia, Hepatosplenome... ORPHA:168569
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Bruising susc... ORPHA:32960
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Thr... ORPHA:333
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... ORPHA:2035
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis,... ORPHA:342
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:619534
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abdominal obesity, Obesity, Abnormal fear-induced behavior OMIM:219090
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Familial Drusen
Macular hemorrhage ORPHA:75376
Granulomatosis With Polyangiitis
Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis OMIM:608710
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Vasculitis, Hypertension, Hypertrophic cardiomyo... OMIM:615846
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Aortic valve stenosis, Pulmonic stenosis, Asplenia ORPHA:261552
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Brucellosis
Myocarditis, Purpura, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Transient ... ORPHA:1304
Coccidioidomycosis
Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Vasculitis, Cerebral ischemia, Perica... ORPHA:228123
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Gastrointes... ORPHA:538
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Elevated circulating C-reactive protein concentration, Conjugated hyperbilirub... OMIM:620376
Behçet Disease
Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Aortic regurgitation, Vasculitis, Cer... ORPHA:117
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353281
Chikungunya
Abnormal bleeding, Lymphadenopathy, Petechiae, Gingival bleeding, Epistaxis, Raynaud phenomenon, ... ORPHA:324625
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Heart murmu... ORPHA:100079
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Mend Syndrome
Abnormal social behavior, Hydrocephalus, Hyperactivity, Short stature, Failure to thrive, Aggress... ORPHA:401973
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Abnormal social behavior, Hydrocephalus, Spina bifida, Slender buil... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Abnormal social behavior, Hydrocephalus, Spina bifida, Slender buil... ORPHA:363958
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Cockayne Syndrome Type 3
Hepatomegaly, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Splenomegaly, Subdura... ORPHA:90324
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,... ORPHA:464
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Hypertension, Chole... OMIM:619573
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal lateral ventricle morphology, Abnormal fear-induced behavi... ORPHA:353277
Cherubism
Submandibular lymph node enlargement OMIM:118400
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pulmonary arterial hypertension, Splenomegaly, Bruising su... ORPHA:667
Primary Sjögren Syndrome
Normocytic anemia, Purpura, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Arter... ORPHA:289390
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Low frustration tolerance, Compulsive behaviors, Cognitive ... ORPHA:646
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Emotional lability, Polyphagia, Fixated interests, Motor stereotypy, A... OMIM:620330
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Malakoplakia
Abnormal bleeding, Follicular hyperplasia ORPHA:556
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Agenesis of corpus callosum, Bruxism ORPHA:48652
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Normocytic anemia, Reduced hematocrit, Normochromic anemia ORPHA:91500
Tuberous Sclerosis Complex
Abnormal social behavior, Depression, Hyperactivity, Impulsivity, Noncommunicating hydrocephalus,... ORPHA:805
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449432
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Igg4-Related Kidney Disease
Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Arteritis, Lymphadenitis, Pericarditis, Ab... ORPHA:449395
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated circulating 7-dehydrocholesterol concentration, Failure to thrive,... OMIM:270400
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Kawasaki Disease
Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Vasculitis, Leukocytos... ORPHA:2331
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal hemorrhage OMIM:308300
Blau Syndrome
Large vessel vasculitis, Anemia, Lymphadenopathy, Hypertension, Pulmonary arterial hypertension, ... ORPHA:90340
Systemic Lupus Erythematosus
Lymphadenopathy, Hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hemolytic anemia ORPHA:536
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Pulmonary arterial hypertension, Splenom... OMIM:181000
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior ORPHA:1675
Cushing Syndrome Due To Ectopic Acth Secretion
Purpura, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, H... ORPHA:99889
Cockayne Syndrome
Hepatomegaly, Hypertension, Splenomegaly, Retinal hemorrhage ORPHA:191
Cornelia De Lange Syndrome 6
Intrauterine growth retardation, Compulsive behaviors, Hair-pulling OMIM:620568
Plague
Hematemesis, Abnormal bleeding, Hepatomegaly, Lymphadenitis, Hypotension, Splenomegaly, Arrhythmi... ORPHA:707
Trichinellosis
Retinal hemorrhage ORPHA:863
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Arrhythm... OMIM:256040
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Memory impairment ORPHA:314647
African Trypanosomiasis
Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Hep... ORPHA:3385
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thrive, Conjugated hyperbiliru... OMIM:243800
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy ORPHA:79078
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Williams Syndrome
Spina bifida occulta, Abnormal social behavior, Depression, Compulsive behaviors, Short stature, ... ORPHA:904
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a... OMIM:175780
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Retin... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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