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

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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

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration OMIM:619256
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive 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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
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, Conjugated hyperbilirubinemia, Increased serum bile acid concentration 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
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Lymp... ORPHA:464329
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali... ORPHA:543
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... OMIM:612840
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Petechiae, Ecchymosis, Anemia, Inguinal l... OMIM:620514
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Cervical lymphadenopathy, Lymphocytosis... OMIM:617718
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy ORPHA:79292
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Increased total bilirubin, Hyperprolinemia OMIM:616299
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Small for gestational age ORPHA:3363
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diff... ORPHA:99827
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia, Intention tremor OMIM:610539
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia ORPHA:101009
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis 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
Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Mediastinal lymphadenopathy OMIM:234810
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia ORPHA:95717
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hemolytic anemia, Lymphadenopat... OMIM:614034
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Infantile Sialic Acid Storage Disease
Osteopenia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:269920
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Failure to thri... OMIM:614300
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... ORPHA:824
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy ORPHA:50251
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Petechiae, Follic... OMIM:603909
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrh... ORPHA:79303
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
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ... ORPHA:277
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopathy, Neutropenia, Hepatomega... ORPHA:79477
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Failure to thrive, Rickets OMIM:211600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Failure to thrive, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous ... OMIM:227810
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia, Anemia, Hypertension ORPHA:69077
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun... ORPHA:99826
Lujo Hemorrhagic Fever
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipunctur... ORPHA:319213
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia, Failure to thrive OMIM:235555
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Petechiae, Hepatomegaly, Anemia, Thrombocytopenia, Retinal hemorrhage, J... ORPHA:294
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Autoimmu... OMIM:601859
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Leishmaniasis
Abnormal bleeding, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia... ORPHA:507
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaundice, First degree at... ORPHA:509
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Abnormal cortical b... OMIM:614886
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Hsd10 Disease
Postnatal growth retardation, Dysphagia, Abnormal social behavior, Short attention span ORPHA:391417
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Petechiae,... ORPHA:340
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Small for gestational age, Tremor, Increased serum bile acid concentration ORPHA:69665
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anemia, Abnorm... ORPHA:54251
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration OMIM:214950
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Nephroblastoma
Neoplasm of the liver, Hypertension, Lymphadenopathy ORPHA:654
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Delayed proximal f... ORPHA:95716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... ORPHA:3392
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Portal hypertension,... ORPHA:98850
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Truncal obesity, Osteoporosis, Small for gestatio... ORPHA:73272
Congenital Toxoplasmosis
Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steator... OMIM:266510
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Ly... ORPHA:79456
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... ORPHA:86839
Squalene Synthase Deficiency
Elbow flexion contracture, Failure to thrive in infancy, Hypocholesterolemia, Knee flexion contra... OMIM:618156
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Conjugated hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Boutonneuse Fever
Vasculitis, Cervical lymphadenopathy, Leukopenia, Petechiae, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Lymphadenopathy... ORPHA:3386
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperp... ORPHA:3008
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... ORPHA:101096
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Normocytic anemia, Leukemi... ORPHA:33226
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... ORPHA:40923
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Cognitive i... ORPHA:309246
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Failure to thrive OMIM:601847
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Juvenile Xanthogranuloma
Myeloproliferative disorder, Hyphema ORPHA:158000
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymphadenopath... ORPHA:83469
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia ORPHA:1667
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Scrub Typhus
Hypotension, Abnormal bleeding, Splenomegaly, Lymphadenopathy, Myocarditis ORPHA:83317
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Graft Versus Host Disease
Failure to thrive, Fasciitis, Hyperbilirubinemia, Dupuytren contracture, Lipodystrophy ORPHA:39812
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombo... OMIM:619644
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Peritonitis, Lymphadenopathy, Hepatomegaly, Purpura ORPHA:343
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con... OMIM:617156
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Failure to thrive, Conjugated hyperbilirubinemia OMIM:613404
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100026
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Carcinoid Syndrome
Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiectasia, Chronic ... ORPHA:100093
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia, Failure to thrive OMIM:613812
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Roifman Syndrome
Splenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatomegaly OMIM:616651
Cystic Echinococcosis
Hyperbilirubinemia, Weight loss, Bone cyst ORPHA:400
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Lymphadenopathy, Elevated pul... ORPHA:199241
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati... OMIM:608836
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Lymphadenopathy OMIM:619750
Lathosterolosis
Osteoporosis, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub... OMIM:617093
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Hemolytic anemia, Leukopenia, Splenomeg... ORPHA:809
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... OMIM:259720
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Small for gestational age, Fai... OMIM:208085
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Bruising susceptibility, Hemophagocytosis, Petechiae, Splenomegaly, Ec... ORPHA:540
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal lymph node morphology, Hepatosple... ORPHA:85450
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged... OMIM:257200
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemi... OMIM:613179
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab... ORPHA:1451
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... ORPHA:90673
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Decreased circulating ceruloplasmi... OMIM:277900
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Arrhythmia, Pancr... ORPHA:549
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Congestive... OMIM:615895
Carney Triad
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Arrhythmia, Lymphadenopathy, Anemia, Ta... ORPHA:139411
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy,... ORPHA:160
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... ORPHA:2686
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Weight loss, Reduced haptoglobin level OMIM:613673
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepato... ORPHA:457077
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein co... OMIM:251880
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia, Hyphema ORPHA:790
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Motor stereotypy, Abn... ORPHA:530983
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Vitreous hemorrhage, Pancre... OMIM:620371
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, General... ORPHA:829
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Small for gestational age OMIM:224120
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k... ORPHA:79124
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Fumarase Deficiency
Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Failure to thrive OMIM:606812
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypocholesterolemia, Tremor, Abnormal subcutaneou... OMIM:212065
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:158061
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... OMIM:214500
Papa Syndrome
Lymphadenopathy ORPHA:69126
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Hepatic amyloidosis OMIM:142680
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Failure to thrive, Elevated circu... OMIM:614866
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Micronodular cirrhosis, Punctate vasculitis skin lesions, Telangiect... OMIM:192315
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega... OMIM:612783
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutroph... OMIM:617099
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Inguinal hernia, Hypocalc... OMIM:613658
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Telangiectasia of the skin, Lymphadenopathy, Hepatome... ORPHA:99812
Common Variable Immunodeficiency
Vasculitis, Lymphopenia, Abnormality of the liver, Hemolytic anemia, Splenomegaly, Lymphadenopath... ORPHA:1572
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:100075
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Purpura ORPHA:293173
Atelis Syndrome 2
Vitreous hemorrhage, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis OMIM:620185
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233710
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Mental deterioration, Depression, Head-banging, Lateral ven... ORPHA:2388
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Cardiac arrest ORPHA:139402
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Palpitations, Facial telangiectasia, Chronic noninfectious lymphadenop... ORPHA:100085
Isolated Biliary Atresia
Failure to thrive, Xanthelasma, Severe failure to thrive, Conjugated hyperbilirubinemia, Small fo... ORPHA:30391
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p... 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 T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe... ORPHA:98813
Q Fever
Vasculitis, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis,... ORPHA:781
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Increased co... ORPHA:79277
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233690
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Small vessel vasculitis ORPHA:36412
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Raynaud phenomenon, Thrombocytos... OMIM:615934
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly OMIM:617591
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Hepatosplenomegaly,... OMIM:615688
Kikuchi-Fujimoto Disease
Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, H... ORPHA:50918
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification... ORPHA:79324
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hyperbilirubinemia, Small for gestational age, Failure to thrive OMIM:557000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Obesity, Hyperbilirubinemia, Decreased body weight, Head titubation, Torticoll... OMIM:619475
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage OMIM:177850
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Sickle Cell Anemia
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
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
Retinal arteritis, Hyphema ORPHA:209959
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Fructose Intolerance, Hereditary
Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Tricuspid regurgitation, Cholestasis, Leukocytosis, Pulmonary arter... OMIM:620233
Ogden Syndrome
Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Torticollis, Minimal subcutaneous fat OMIM:300855
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia OMIM:218700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Caroli Disease
Weight loss, Conjugated hyperbilirubinemia ORPHA:53035
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive o... ORPHA:96263
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt... OMIM:300755
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris... ORPHA:758
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Raynaud phenomenon, Lymphadenopathy, ... ORPHA:93552
Fg Syndrome Type 1
Slender build, Attention deficit hyperactivity disorder, Hydrocephalus, Compulsive behaviors, Sho... ORPHA:93932
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... 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
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Facial telangiectasia, Splen... OMIM:602782
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Obesity, Intrauterine growt... ORPHA:177907
Neuroblastoma
Abnormal bleeding, Lymphadenopathy, Thrombocytopenia, Anemia, Hypertension ORPHA:635
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Petechiae, Prolonged neonatal jaundice, Anemia,... ORPHA:499009
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Degcags Syndrome
Osteopenia, Failure to thrive, Hyperbilirubinemia, Hiatus hernia, Craniosynostosis, Small for ges... OMIM:619488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Neutrophilia, Myeloproliferative disorder, Portal fibrosis, V... ORPHA:3260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia, Failure to thrive OMIM:618278
Hardikar Syndrome
Osteoporosis, Hyperbilirubinemia, Failure to thrive, Umbilical hernia OMIM:301068
Reynolds Syndrome
Steatorrhea, Hyperbilirubinemia, Calcinosis OMIM:613471
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Hepatitis, Anemia, Hematemesis, Thrombocytopenia, Melena, R... ORPHA:319251
Retinoblastoma
Leukemia, Vitreous hemorrhage OMIM:180200
Poems Syndrome
Polycythemia, Splenomegaly, Pulmonary arterial hypertension, Lymphadenopathy, Thrombocytosis, Hep... 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, Failure to thrive, Elbow flexion c... OMIM:210710
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Increased circulating ferritin concentration, Hyperbilirubin... OMIM:619991
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Short attention span, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:306400
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Raynaud phenomenon, Neutropenia, Lymphadenopathy, Autoimmune thro... OMIM:607944
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co... ORPHA:83471
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangie... ORPHA:168569
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Bruising susceptibility, Leukocytosis, Splenomegaly, Peritonitis, Lymphadenopathy, Pe... ORPHA:32960
Farber Disease
Hepatic fibrosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cholestasis... ORPHA:333
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi... ORPHA:2035
Familial Mediterranean Fever
Vasculitis, Leukocytosis, Splenomegaly, Arrhythmia, Peritonitis, Pancreatitis, Lymphadenopathy, M... ORPHA:342
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... OMIM:619534
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Familial Drusen
Macular hemorrhage ORPHA:75376
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Granulomatosis OMIM:608710
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Hemolytic anemia,... OMIM:615846
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Asplenia, Pulmonic stenosis, Hyphema ORPHA:261552
Immunodeficiency 31C
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran... OMIM:614162
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Brucellosis
Arteritis, Liver abscess, Transient ischemic attack, Hypersplenism, Abnormality of the liver, Spl... ORPHA:1304
Coccidioidomycosis
Vasculitis, Vasospasm, Abnormality of the spleen, Abnormality of the liver, Cerebral ischemia, Pe... ORPHA:228123
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Splenomegaly, Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Ne... ORPHA:37042
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the ... ORPHA:538
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia, Failure to ... OMIM:620376
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
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
Self-injurious behavior, Growth delay, Abnormal fear-induced behavior, Failure to thrive, Obesity... ORPHA:353281
Chikungunya
Gingival bleeding, Epistaxis, Abnormal bleeding, Cervical lymphadenopathy, Petechiae, Raynaud phe... ORPHA:324625
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Chronic noninfectious lymphadenopathy, Hepatomegaly, Heart murmur, Tri... ORPHA:100079
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Mend Syndrome
Failure to thrive, Aggressive behavior, Hydrocephalus, Hyperactivity, Short stature, Abnormal soc... ORPHA:401973
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Splenomegaly, Hepatomegaly, Retinal hemorrhage, Increased bl... ORPHA:90324
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Slender build, Inappropriate laughter, Postnatal growth retardation, O... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Slender build, Inappropriate laughter, Postnatal growth retardation, O... ORPHA:363958
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Eosinophilia, Telangiectasia of the skin, Pulmonary ... ORPHA:464
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Cervical lymphadenopathy, Cholestasi... OMIM:619573
Cherubism
Submandibular lymph node enlargement OMIM:118400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353277
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
Bruising susceptibility, Splenomegaly, Anemia, Pulmonary arterial hypertension, Lymphadenopathy, ... ORPHA:667
Primary Sjögren Syndrome
Normocytic anemia, Vasculitis, Arteritis, Biliary cirrhosis, Chronic active hepatitis, Lymphopeni... ORPHA:289390
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Hennekam Syndrome
Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Low frustration... ORPHA:646
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Portal hypertension, Increased T cell count, Arrhythm... ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... OMIM:620330
Malakoplakia
Abnormal bleeding, Follicular hyperplasia ORPHA:556
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia ORPHA:91500
Monosomy 22Q13.3
Bruxism, Obesity, Agenesis of corpus callosum, Hair-pulling, Hyperactivity ORPHA:48652
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Enamel hypoplasia OMIM:300896
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Eosinophilia, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis ORPHA:449432
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly... OMIM:619381
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati... OMIM:270400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Igg4-Related Kidney Disease
Arteritis, Lymphadenitis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Cholecystitis,... ORPHA:449395
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Kawasaki Disease
Vasculitis, Hepatitis, Congestive heart failure, Cervical lymphadenopathy, Leukocytosis, Cholecys... ORPHA:2331
Incontinentia Pigmenti
Retinal hemorrhage, Eosinophilia, Leukocytosis OMIM:308300
Blau Syndrome
Large vessel vasculitis, Abnormality of the liver, Splenomegaly, Pulmonary arterial hypertension,... ORPHA:90340
Systemic Lupus Erythematosus
Leukopenia, Hypertension, Raynaud phenomenon, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia ORPHA:536
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Pulmonary arterial hypertension, Generalized lymphadenopathy, Hepatom... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Bruising susceptibility, Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Pan... ORPHA:99889
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability ORPHA:1675
Cockayne Syndrome
Retinal hemorrhage, Hepatomegaly, Hypertension, Splenomegaly ORPHA:191
Cornelia De Lange Syndrome 6
Compulsive behaviors, Intrauterine growth retardation, Hair-pulling OMIM:620568
Plague
Hypotension, Abnormal bleeding, Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Arrh... ORPHA:707
Trichinellosis
Retinal hemorrhage ORPHA:863
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Microcytic anemia, Splenomegaly, Arrhythmia, Lymphadenopathy, Thrombocy... OMIM:256040
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Memory impairment, Abnormal social behavior ORPHA:314647
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Johanson-Blizzard Syndrome
Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... OMIM:243800
Igg4-Related Ophthalmic Disease
Eosinophilia, Pancreatitis, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis ORPHA:79078
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Williams Syndrome
Depression, Failure to thrive in infancy, Obesity, Overfriendliness, Attention deficit hyperactiv... ORPHA:904
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage, Retinal hemorrhage, Hemolytic a... OMIM:175780
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Left ventricular systolic dysfunction, Weak pulse, Pancreatic calcific... 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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