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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
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Csmd3em1(IMPC)Mbp HOM Late adult 0.00
increased circulating bilirubin level Csmd3em1(IMPC)Mbp HOM Early adult 1.05×10-09
abnormal lymph node morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
decreased total body fat amount Csmd3em1(IMPC)Mbp HOM Early adult 2.71×10-07
limb grasping Csmd3em1(IMPC)Mbp HOM   Early adult 3.28×10-05
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
eye hemorrhage Csmd3em1(IMPC)Mbp HOM Late adult 5.97×10-05
decreased grip strength Csmd3em1(IMPC)Mbp HOM Middle aged adult 7.20×10-05
increased lean body mass Csmd3em1(IMPC)Mbp HOM Early adult 2.90×10-07
abnormal coat/ hair morphology Csmd3em1(IMPC)Mbp HOM Middle aged adult 2.96×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia ORPHA:79234
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Kerion Celsi
Lymphadenopathy ORPHA:499
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Gastrointe... ORPHA:543
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Abnormal spleen morphology, Abnormal bleeding, Bru... ORPHA:464329
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Motor deteriorati... ORPHA:412066
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistax... OMIM:612840
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Fish-Eye Disease
Lymphadenopathy, Angina pectoris, Splenomegaly, Hepatomegaly ORPHA:79292
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Lymphadenopathy, Cervical lymp... OMIM:617718
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... OMIM:605814
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... ORPHA:99827
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia, Hyperprolinemia, Hyperglutaminemia OMIM:616299
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Bone marrow h... ORPHA:88
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... OMIM:614034
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Anemia, Hepatomegaly ORPHA:100025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis ORPHA:37748
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphadenopathy, Abnor... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage OMIM:193235
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... ORPHA:277
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... OMIM:615559
Primary Myelofibrosis
Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Abnormal bleeding, Pancytopenia, Hepato... ORPHA:824
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Lymphadenopathy, Hepatomegaly ORPHA:50251
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Tremor... OMIM:613280
Griscelli Syndrome Type 2
Petechiae, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, ... ORPHA:79477
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Marburg Hemorrhagic Fever
Hypotension, Reticulocytosis, Pericarditis, Shock, Capillary leak, Neutrophilia in presence of in... ORPHA:99826
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Fulminant hepatitis, Purpura, Lymphopenia, Ecchymosis, Shoc... ORPHA:319213
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... ORPHA:464321
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Jaundice, Pericarditis, Lymphad... ORPHA:509
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Abnormal bleeding, Pancytopenia, Lymphadenopa... ORPHA:507
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Infantile Sialic Acid Storage Disease
Failure to thrive, Conjugated hyperbilirubinemia OMIM:269920
Hemorrhagic Fever-Renal Syndrome
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... ORPHA:340
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Petechiae, Purpura, Abnormal bleeding, Pancytopenia, Bruising susceptibility,... ORPHA:520
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver ORPHA:424019
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Liver abscess, Neutrophilia,... ORPHA:54251
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Umbilical hernia, Conjugated hyperbilirubinemia ORPHA:95715
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Elevated circulating creatine kinase c... OMIM:614300
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Opisthotonus OMIM:619685
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:56425
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:2584
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Nephroblastoma
Lymphadenopathy, Hypertension, Neoplasm of the liver ORPHA:654
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hyperbilirubinemia OMIM:235555
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Hemophagocytosis,... OMIM:308240
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbi... ORPHA:79303
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Conjugated hyperbilirubinemia OMIM:619484
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Tularemia
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:3392
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocyt... ORPHA:98850
Congenital Toxoplasmosis
Anemia, Jaundice, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Aplastic anemi... OMIM:615122
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal bleeding, ... ORPHA:86839
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... OMIM:267700
Diffuse Cutaneous Mastocytosis
Hypotension, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloprolife... ORPHA:79456
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-feto... OMIM:617049
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity OMIM:609734
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Waldenström Macroglobulinemia
Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, Abnormality o... ORPHA:33226
Eales Disease
Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz... ORPHA:40923
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95716
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Erythroid hypo... ORPHA:101096
American Trypanosomiasis
Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, C... ORPHA:3386
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Boutonneuse Fever
Leukopenia, Petechiae, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Vasculitis ORPHA:83313
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Neonatal h... ORPHA:3008
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia OMIM:606812
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentration OMIM:614886
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... ORPHA:911
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... OMIM:613011
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Neonatal hyperbilirubinemia, Truncal obesity ORPHA:73272
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepato... OMIM:619644
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypertyrosinemia, Conjugated hyperbili... OMIM:617156
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Peritonitis, Vasculitis ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Conjugated hyperbilirubinemia OMIM:601847
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Wolcott-Rallison Syndrome
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron ORPHA:98870
Graft Versus Host Disease
Hyperbilirubinemia, Fasciitis, Lipodystrophy, Failure to thrive, Dupuytren contracture ORPHA:39812
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Lymphadenopathy, Acute pancreat... OMIM:618935
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:613404
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Cerebral vasculitis,... OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Conjugated hyperbilirubinemia OMIM:211600
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Scrub Typhus
Hypotension, Abnormal bleeding, Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Vitreoretinochoroidopathy
Retinal neovascularization, Vitreous hemorrhage OMIM:193220
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:616651
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia OMIM:607765
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage ORPHA:891
Neuroendocrine Tumor Of The Colon
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... ORPHA:100080
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Cutaneous Mastocytoma
Hypotension, Lymphadenopathy, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans ORPHA:79455
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Leukopenia, Hemolytic anemia, Purpura, Pericarditis, Lymphadenop... ORPHA:809
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Conjugated hype... OMIM:208085
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Mitral regurgitation, Microcytic anemia, Hepatosplenomegaly OMIM:619750
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Petechiae, Jaundice, Purpura, Bruising susceptibility, Ecchymosis, Lymphadenopathy, Hemop... ORPHA:540
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal... OMIM:257200
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Petechiae, Purpura, Congestive heart failure, Hypertensio... ORPHA:85450
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Knee flexion contracture, Decreased plasma free carnitine, Elbow flexi... OMIM:608836
Wilson Disease
Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulating copper co... OMIM:277900
Carcinoid Syndrome
Facial telangiectasia, Heart murmur, Hepatic necrosis, Right ventricular failure, Palpitations, C... ORPHA:100093
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ... ORPHA:829
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon OMIM:611773
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Purpura, Abnormality of neutrophils, Lymphadenopathy, He... ORPHA:1451
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hyperbilirubinemia OMIM:613812
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein co... OMIM:251880
Retinoblastoma
Hyphema, Vitreous hemorrhage, Leukemia, Subretinal pigment epithelium hemorrhage ORPHA:790
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... OMIM:603553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Anemia, Congestive heart failure, Dilated cardiomyopathy, Lympha... OMIM:615895
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Neuroendocrine Tumor Of The Rectum
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hepatomegaly... ORPHA:100082
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:3162
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic... ORPHA:2686
Carney Triad
Anemia, Hypertension, Lymphadenopathy, Mediastinal lymphadenopathy, Arrhythmia, Gastrointestinal ... ORPHA:139411
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Legionnaires Disease
Hypotension, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone ... ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level, Weight loss OMIM:613673
Felty Syndrome
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... ORPHA:98849
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Hemothorax, Diffuse alveolar hemorrhage, Lymphadenopathy, Rig... ORPHA:199241
Castleman Disease
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Decreased mean corpusc... ORPHA:160
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Omenn Syndrome
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... ORPHA:39041
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... ORPHA:158061
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Decreased proportion of memory B cel... OMIM:618048
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Chediak-Higashi Syndrome
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Giant ne... OMIM:214500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, T lymphocytopenia, Jaundice, Pa... ORPHA:79124
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification ORPHA:677
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... OMIM:192315
Anemia, Congenital Dyserythropoietic, Type Ia
Small for gestational age, Hyperbilirubinemia OMIM:224120
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... OMIM:264800
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... ORPHA:3202
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Cystic Echinococcosis
Hyperbilirubinemia, Weight loss ORPHA:400
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy... OMIM:304790
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Leukocytosis, Increased proportion of CD4-positive T cells, Vascul... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... ORPHA:14
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Cervical lymph... ORPHA:514
Duodenal Neuroendocrine Tumor
Hypotension, Extrahepatic cholestasis, Increased hematocrit, Cardiogenic shock, Insulinoma, Arrhy... ORPHA:100076
Lig4 Syndrome
Telangiectasia of the skin, Pancytopenia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Acute leuk... ORPHA:99812
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Purpura, Lymphopenia, Autoimmune thrombocytopenia, Ly... ORPHA:1572
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating phytanic acid concentration, Small for gestational age, Increased circulatin... OMIM:614866
Neuroendocrine Tumor Of Stomach
Hypotension, Facial telangiectasia, Cardiogenic shock, Iron deficiency anemia, Melena, Right vent... ORPHA:100075
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubinemia, Hyperch... ORPHA:90674
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233710
Glycogen Storage Disease Xii
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration OMIM:611881
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:90673
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333
Ileal Neuroendocrine Tumor
Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, Arrhythmia, Lymphad... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, Arrhythmia, Lymphad... ORPHA:100077
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver ORPHA:424016
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233690
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Bronchial Neuroendocrine Tumor
Hypotension, Facial telangiectasia, Cardiogenic shock, Right ventricular failure, Palpitations, H... ORPHA:97287
Q Fever
Anemia, Abnormality of the liver, Hepatitis, Purpura, Hepatosplenomegaly, Pericarditis, Lymphaden... ORPHA:781
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Raynaud phenomenon, Purpura, Hypertension, Pancytopenia, Hepatosplenomegaly, ... OMIM:615688
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Lymphocytosis, Cardiac arrest, Lymphadenopathy, Eosinophilia, Myocarditis ORPHA:139402
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:617591
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Small vessel vasculitis, Splenomegaly, Hepatomegaly ORPHA:36412
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Lymphocytosis, Generalized lymph... ORPHA:50918
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... OMIM:614700
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancr... ORPHA:97289
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Follicular hyperplasia, Thro... OMIM:615934
Hepatocellular Carcinoma
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjuga... ORPHA:567983
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Hepatic cysts, Facial telangiectasia, Heart murmur, Neoplasm of the liver,... ORPHA:100085
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased body weight, Hyperbilirubinemia, Torticollis, Intention tremor, Failure to thrive, Over... OMIM:619475
Isolated Biliary Atresia
Small for gestational age, Failure to thrive, Severe failure to thrive, Conjugated hyperbilirubin... ORPHA:30391
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage OMIM:177850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... OMIM:600802
Mevalonic Aciduria
Anemia, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymphadenopathy, Fluctuating hepatomeg... OMIM:610377
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Failure to thrive, Hyperbilirubinemia OMIM:557000
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Acute Interstitial Pneumonia
Lymphadenopathy, Reduced hematocrit, Hypertension ORPHA:79126
Fructose Intolerance, Hereditary
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Failure to thrive, Bicarbonaturia OMIM:229600
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... ORPHA:100086
Pseudoxanthoma Elasticum
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... ORPHA:758
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Hepatic... OMIM:619418
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Jaundice, Abnormal bleeding, Pancytopenia, Hepatosplenomegaly, Bruising susc... ORPHA:167
Ogden Syndrome
Minimal subcutaneous fat, Hyperbilirubinemia, Torticollis, Inguinal hernia, Umbilical hernia OMIM:300855
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Weight loss ORPHA:53035
Hyper-Igd Syndrome
Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:260920
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia, Umbilical hernia OMIM:218700
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Pulmonary arterial hypertension, Retroperitoneal fibrosis, Facial telangie... OMIM:602782
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Enteroviral hepatitis, Hepatocellular carcinoma, Ly... OMIM:300755
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Raynaud phenomenon, Lymphopenia, Lymphadenopathy, ... ORPHA:93552
Lathosterolosis
Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
Rift Valley Fever
Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Abnormal bleeding, Gingival bleeding, Hematemesi... ORPHA:319251
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Retinoblastoma
Vitreous hemorrhage, Leukemia OMIM:180200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Failure to thrive, Dystonia OMIM:618278
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Generalized lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Myelo... ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Unconjugated hyperbilirubinemia, Failure to thrive, Inguinal hernia, S... OMIM:613658
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... OMIM:619991
Cranioectodermal Dysplasia 2
Inguinal hernia, Hyperbilirubinemia OMIM:613610
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:306400
Degcags Syndrome
Small for gestational age, Failure to thrive, Hyperbilirubinemia, Hiatus hernia OMIM:619488
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Unconjugated hyperbiliru... ORPHA:79277
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Bruising susceptibility, Pericarditis, Lymphadenopathy, Leukocytosis, Peritonitis, Splenomegaly, ... ORPHA:32960
Familial Mediterranean Fever
Splenomegaly, Pericarditis, Myocardial infarction, Lymphadenopathy, Arrhythmia, Peritonitis, Panc... ORPHA:342
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Raynaud phenomenon, Purpura, Lymphopenia, Autoimmune thrombocytopenia, Lymphad... OMIM:607944
Hardikar Syndrome
Failure to thrive, Hyperbilirubinemia, Umbilical hernia OMIM:301068
Choreoacanthocytosis
Aggressive behavior, Head-banging, Self-injurious behavior, Weight loss, Hair-pulling, Lateral ve... ORPHA:2388
H Syndrome
Facial telangiectasia, Hepatosplenomegaly, Lymphadenopathy, Abnormal cardiovascular system physio... ORPHA:168569
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Knee flexion contracture, Flexion contracture, Hip contracture, Hyperbilirubinemia, Elbow flexion... OMIM:210710
Granulomatosis With Polyangiitis
Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged hepatitis, Decreased p... ORPHA:83471
Poems Syndrome
Pulmonary arterial hypertension, Thrombocytosis, Lymphadenopathy, Polycythemia ORPHA:2905
Farber Disease
Hepatic fibrosis, Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cho... ORPHA:333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Asplenia, Pulmonic stenosis, Hyphema ORPHA:261552
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Familial Drusen
Macular hemorrhage ORPHA:75376
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Selective Igm Deficiency
Lymphadenitis, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-... ORPHA:331235
Tangier Disease
Anemia, Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Aicardi-Goutieres Syndrome 7
Anemia, Hemolytic anemia, Hepatitis, Generalized lymphadenopathy, Pancytopenia, Hypertension, Hep... OMIM:615846
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Brucellosis
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Transient ischemic at... ORPHA:1304
Immunodeficiency 31C
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:614162
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Behçet Disease
Pulmonary embolism, Splenomegaly, Cerebral ischemia, Pericarditis, Myocardial infarction, Lymphad... ORPHA:117
Coccidioidomycosis
Abnormality of the liver, Cerebral ischemia, Peritonitis, Pericarditis, Lymphadenopathy, Vasospas... ORPHA:228123
Chikungunya
Petechiae, Raynaud phenomenon, Abnormal bleeding, Epistaxis, Lymphadenopathy, Gingival bleeding, ... ORPHA:324625
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Failure to thrive, Inguinal hernia, Increased circulating ferritin concentrat... OMIM:619534
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the ... ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... ORPHA:37042
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Cockayne Syndrome Type 3
Retinal hemorrhage, Subdural hemorrhage, Increased blood pressure, Hepatomegaly, Splenomegaly, Ca... ORPHA:90324
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech OMIM:616393
Incontinentia Pigmenti
Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, Congestive heart failure,... ORPHA:464
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Neuroendocrine Neoplasm Of Appendix
Hypotension, Heart murmur, Palpitations, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious ... ORPHA:100079
Multiple Myeloma
Lymphadenopathy, Splenomegaly, Anemia ORPHA:29073
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Decreased CD4:CD8 ratio, Third degree atrioventricular block, He... OMIM:619573
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Cherubism
Submandibular lymph node enlargement OMIM:118400
Kawasaki Disease
Hepatitis, Jaundice, Congestive heart failure, Pericarditis, Arrhythmia, Cholecystitis, Leukocyto... ORPHA:2331
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Bruising susceptibility, Lymphadenopathy, Hepatomegaly, ... ORPHA:667
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Primary Sjögren Syndrome
Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Normocytic anemia, Raynaud phenomenon, P... ORPHA:289390
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Anemia, Abnormal cardiac ventricular function, Hemoly... ORPHA:797
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy, Eosinophilia, Abnormal pancreas morphology ORPHA:449432
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Vitreous hemorrhage, Reduced hematocrit, Normochromic anemia ORPHA:91500
Malakoplakia
Follicular hyperplasia, Abnormal bleeding ORPHA:556
Incontinentia Pigmenti
Retinal hemorrhage, Leukocytosis, Eosinophilia OMIM:308300
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Vascu... OMIM:619381
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Monosomy 22Q13.3
Delayed speech and language development, Obesity, Hair-pulling, Agenesis of corpus callosum ORPHA:48652
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Delayed speech and language development, Hair-pulling, Irritability ORPHA:447997
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap... ORPHA:447
Trichotillomania
Hair-pulling OMIM:613229
Blau Syndrome
Pulmonary arterial hypertension, Anemia, Abnormality of the liver, Large vessel vasculitis, Hyper... ORPHA:90340
Cockayne Syndrome
Hypertension, Retinal hemorrhage, Splenomegaly, Hepatomegaly ORPHA:191
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Generalized lymphadenopathy, Pancytopenia, Mediastinal lymphaden... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Capillary frag... ORPHA:99889
Plague
Lymphadenitis, Hypotension, Abnormal bleeding, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis... ORPHA:707
Trichinellosis
Retinal hemorrhage ORPHA:863
Igg4-Related Kidney Disease
Lymphadenitis, Retroperitoneal fibrosis, Sclerosing cholangitis, Pericarditis, Lymphadenopathy, C... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Thrombocytopenia, Splenomega... OMIM:256040
African Trypanosomiasis
Third degree atrioventricular block, Abnormal EKG, Jaundice, Congestive heart failure, Hepatosple... ORPHA:3385
Igg4-Related Ophthalmic Disease
Retroperitoneal fibrosis, Cholangitis, Lymphadenopathy, Eosinophilia, Pancreatitis ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis ORPHA:79078
Pierson Syndrome
Retinal hemorrhage, Hypertension OMIM:609049
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Hemolytic anemia, Cerebral hemorrhage, Corneal neovasculariz... OMIM:175780
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Csmd3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csmd3.

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

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

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