Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sphingosine-1-phosphate receptor 1
Synonyms:
Edg1,  S1P,  S1P1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by S1pr1 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 S1pr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... OMIM:618987
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Congestive heart failure, Aorto-v... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... OMIM:135580
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Thrombocyto... OMIM:616050
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Cerebral vasculitis, Eosinophilia, Decreased proportion of CD4... OMIM:243700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly OMIM:609981
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Coarctation of aorta OMIM:601612
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Left ventricular outflow tract obstruction, Levotransposition of the gr... ORPHA:860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Increased circulating... ORPHA:277
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... OMIM:619652
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... ORPHA:331206
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... ORPHA:231160
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Fixed Subaortic Stenosis
Patent ductus arteriosus, Systolic heart murmur, Ascending tubular aorta aneurysm, Left ventricul... ORPHA:3092
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Hypertension, Arrhythmia ORPHA:3222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Macroglossia, T lymphocytopenia OMIM:242860
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Heart murmur, Transient ischemic attack,... ORPHA:1330
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Increased circulating IgA level, Decreased proportion... OMIM:618048
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Impai... OMIM:600802
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... OMIM:618394
Transaldolase Deficiency
Anemia, Telangiectasia, Hepatosplenomegaly, Coarctation of aorta, Thrombocytopenia ORPHA:101028
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Ischemic stroke, Hypov... ORPHA:91387
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea... ORPHA:221139
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Central diabetes insipidus, Perisylvian polymicrogyria, Coarctation of ... ORPHA:280195
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... OMIM:102700
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... ORPHA:169154
Aortic Valve Disease 2
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... OMIM:614823
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... OMIM:618780
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ... OMIM:613854
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of ... ORPHA:1166
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... OMIM:301078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Aorta Coarctation
Patent ductus arteriosus, Pulmonary arterial hypertension, Interrupted aortic arch, Congestive he... ORPHA:1457
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal aortic arch morphology ORPHA:1455
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Igg4-Related Aortitis
Hypereosinophilia, Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, D... ORPHA:449400
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... OMIM:608233
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Thrombocytopenia... OMIM:614857
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Scimitar Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Truncus... ORPHA:185
Cardiac Diverticulum
Angina pectoris, Palpitations, Pulmonary artery stenosis, Abnormal EKG, Left ventricular hypertro... ORPHA:1686
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Truncus arteriosus, Coarctati... OMIM:217095
Neuronopathy, Distal Hereditary Motor, Type X
Descending aortic dissection, Ascending aortic dissection, Tendon rupture, Distal lower limb musc... OMIM:620080
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Decreased T cell activation, Hemolytic anemia, Decreased circulating IgE, Impaired ... OMIM:308230
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return, Atrioven... ORPHA:392
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Sys... ORPHA:2299
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Anemia ORPHA:3405
Transaldolase Deficiency
Patent ductus arteriosus, Anemia, Telangiectasia, Pancytopenia, Hepatosplenomegaly, Coarctation o... OMIM:606003
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction... OMIM:613426
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... OMIM:603554
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, T lymphocytopenia, Pancytopenia... ORPHA:79124
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Cardiac total anomalous pulmonary venous connection, Di... OMIM:608978
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Pulmonary arterial hypertension, Systolic heart murmur, Truncus arterio... ORPHA:980
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Heart murmur, Coarctation of aorta, Tachycardi... ORPHA:3426
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Anomalous branches of internal carotid... ORPHA:363705
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection OMIM:618496
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Coarctation of aorta, Interhypothalamic Adhesion, Agenesis of corpus... OMIM:618929
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Congenital diaphragmatic hernia, Anomalous pulmon... ORPHA:1120
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Pancytopen... OMIM:614700
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia, Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, ... OMIM:175050
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... ORPHA:391665
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Vasculitis in th... OMIM:619381
Right Atrial Isomerism
Asplenia, Polysplenia, Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary ar... OMIM:208530
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Congenital diaphragmatic hernia, Hypertroph... ORPHA:251071
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Abnormality of ... ORPHA:1926
Phace Association
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Aor... OMIM:606519
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta ORPHA:284169
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Flexion contracture, Hypertension, Generalized limb muscle atrophy ORPHA:1306
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Interrupted... ORPHA:3384
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Mitral stenosis,... OMIM:617260
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Lymphopenia, Abnormal aortic arch morphology, Abnor... ORPHA:2306
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Simplified gyral pattern, Abnormal natural killer cell morp... OMIM:615966
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... ORPHA:158061
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Diaphragmatic eventration, Multilobulated spleen, C... OMIM:601186
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Hypertension, Ascending aortic dissection, Coarctation of aor... ORPHA:402075
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Coarctation of aorta, Congenital diaphragmatic hern... ORPHA:3097
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Aplastic anemia, Thrombocytopenia, Coarctation of aorta OMIM:300514
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Arterial Tortuosity Syndrome
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Cardiac arrest, Ao... ORPHA:3342
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta OMIM:301022
Arterial Tortuosity Syndrome
Aortic tortuosity, Aortic root aneurysm, Flexion contracture, Ischemic stroke, Hypertension, Aort... OMIM:208050
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Congenitally corrected transposition of ... OMIM:619702
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Noonan Syndrome 2
Patent ductus arteriosus, Abnormal coronary artery origin, Leukemia, Mitral stenosis, Pulmonic st... OMIM:605275
Pagod Syndrome
Sudden cardiac death, Abnormal aortic morphology, Abnormality of neuronal migration, Abnormality ... ORPHA:991
Giant Cell Arteritis
Abdominal aortic aneurysm, Sudden cardiac death, Cerebral ischemia, Pericarditis, Epistaxis, Arrh... ORPHA:397
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Polymicrogyria, Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Decreased muscle mass, Muscle fiber atrophy, Wrist drop, Elbow flexion contr... ORPHA:1900
Phaver Syndrome
Camptodactyly of finger, Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta ORPHA:2876
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Macroglossia, Coarctation of aorta, Aortic regurgitation, Aortic valve stenos... ORPHA:96147
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Loeys-Dietz Syndrome 4
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Torticollis, Arterial ... OMIM:614816
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Patent ductus arteriosus, Pulmonary arterial hypertension, Asplenia, Diastasis recti, Pulmonary i... OMIM:265380
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Aortic dissection, Varicose veins, Pulmonic stenosis, Polymic... OMIM:618343
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmon... OMIM:618164
Cocaine Intoxication
Hypotension, Rhabdomyolysis, Ischemic stroke, Cerebral hemorrhage, Hypovolemia, Ventricular arrhy... ORPHA:90068
Noonan Syndrome 10
Patent ductus arteriosus, Mitral stenosis, Left ventricular hypertrophy, Coarctation of aorta, Hy... OMIM:616564
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
15Q11.2 Microdeletion Syndrome
Coarctation of aorta, Tetralogy of Fallot, Total anomalous pulmonary venous return ORPHA:261183
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... ORPHA:508542
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Decreased circulating total IgM, Lymphopenia, Severe B lymphocytopenia, Decreased circula... OMIM:620005
Mosaic Trisomy 1
Camptodactyly of finger, Lateral ventricle dilatation, Elbow flexion contracture, Coarctation of ... ORPHA:1692
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... ORPHA:2396
Galloway-Mowat Syndrome 3
Simplified gyral pattern, Camptodactyly, Hypertension, Lissencephaly, Coarctation of aorta, Pachy... OMIM:617729
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Atrial reentry tachycardia, Ascending tu... OMIM:270100
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta OMIM:616954
Loeys-Dietz Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Vascular dilatation, Cardiac arrest, Aortic an... ORPHA:60030
Fryns Syndrome
Abnormal aortic morphology, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Tet... ORPHA:2059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Double outlet right ventricle, Atrioventricular block, Coarctation of aorta ORPHA:371428
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Dilated cardiomyopathy, Co... OMIM:614921
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Coarctation of aorta, Aortic regurgitation, Shortened PR interval, Prem... OMIM:620066
Oculoectodermal Syndrome
Patent ductus arteriosus, Pineal cyst, Transient ischemic attack, Coarctation of aorta, Hypertrop... OMIM:600268
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... OMIM:212093
Kleefstra Syndrome
Macroglossia, Coarctation of aorta, Pulmonary artery stenosis, Arrhythmia, Tetralogy of Fallot, A... ORPHA:261494
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Mitral stenosis, Coarctation of aorta, Tetralogy of ... ORPHA:2008
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased ... ORPHA:293978
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:1001
Fg Syndrome Type 1
Small pituitary gland, Progressive flexion contractures, Pulmonary arterial hypertension, Coarcta... ORPHA:93932
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Hypertension, Abnormal aortic morphology ORPHA:63
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent ductus arteriosus, Right bundle branch block, Coarctation of aorta, ... OMIM:617506
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture, Type 1 muscle fiber predominance, Myopathy, Skeletal mu... OMIM:614557
Heterotaxy, Visceral, 1, X-Linked
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Left superior vena cava draini... OMIM:306955
Holoprosencephaly
Abnormal aortic morphology, Abnormality of neuronal migration, Anterior hypopituitarism, Panhypop... ORPHA:2162
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Abnormality of the thenar eminence, Reticulocytopenia, Radial... ORPHA:124
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Abdominal aortic aneurysm, Patent ductus arteriosus, Vascular dilatation... ORPHA:284984
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Rh... ORPHA:17
Alg12-Cdg
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Decreased response to growth hormone stimulation test, Coarctation of aorta OMIM:614114
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta, Facial palsy ORPHA:2780
Orofaciodigital Syndrome Vi
Periventricular nodular heterotopia, Coarctation of aorta, Hypothalamic hamartoma, Agenesis of co... OMIM:277170
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Muscular dystrophy, Acute lymphoblastic leukemia, Coarctation of aort... ORPHA:1052
Pseudotrisomy 13 Syndrome
Polymicrogyria, Agenesis of corpus callosum, Coarctation of aorta OMIM:264480
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Pulmonary arterial hypertension, Aortopulmonary window, Diaphragmatic event... OMIM:620025
Loeys-Dietz Syndrome 3
Aortic tortuosity, Abdominal aortic aneurysm, Patent ductus arteriosus, Tortuous cerebral arterie... OMIM:613795
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2409
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Diamond-Blackfan Anemia 1
Reticulocytopenia, Congestive heart failure, Coarctation of aorta, Thrombocytosis, Tricuspid sten... OMIM:105650
Fanconi Anemia
Patent ductus arteriosus, Leukopenia, Abnormal aortic morphology, Anemia, Abnormal carotid artery... ORPHA:84
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Camptodactyly, Coarctation of aorta OMIM:617602
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Pulmonary arterial hypertension, Coarctation of aorta, Congenital diaph... OMIM:618454
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Abnormal aortic morphology, Flexion contracture, Heart murmur, Macroglos... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Abnormal aortic morphology, Flexion contracture, Heart murmur, Macroglos... ORPHA:217093
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Cardiac... ORPHA:99125
Phace Syndrome
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal carotid artery morphology, Ce... ORPHA:42775
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Opitz Gbbb Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Coarctation of aorta, Congenital diaphragmatic he... ORPHA:2745
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
Ch├ędiak-Higashi Syndrome
Anemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Epistaxis, Hemophagocytosis, Increased pro... ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Marfan Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, Arterial disse... ORPHA:558
Gabriele-De Vries Syndrome
Distal arthrogryposis, Aortopulmonary collateral arteries, Lateral ventricle dilatation, Facial h... OMIM:617557
Mucopolysaccharidosis Type 2
Flexion contracture of digit, Contractures of the large joints, Abnormal aortic morphology, Macro... ORPHA:580
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Anemia, Hepatosplenomegaly, Coarctation of aorta, Shoulder muscle hypop... OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Knee flexion contracture, Gray matter heterotopia, Flexion contracture, Hip contracture, Colpocep... OMIM:210710
Hardikar Syndrome
Patent ductus arteriosus, Hypersplenism, Hypertension, Coarctation of aorta, Hepatosplenomegaly, ... OMIM:301068
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Meester-Loeys Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Camptodactyly,... OMIM:300989
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... OMIM:251260
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Jacobsen Syndrome
Coarctation of aorta, Bone marrow hypocellularity, Pachygyria, Aortic valve stenosis, Thrombocyto... ORPHA:2308
Distal Monosomy 15Q
Patent ductus arteriosus, Double outlet right ventricle with doubly committed ventricular septal ... ORPHA:1596
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Torticollis, Coarctation of aorta, Partial agenesis of the corpus callo... OMIM:619480
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Coarctation of aorta, Aortic regurgitation, Tetralogy of Fallot, Agenesis of ... ORPHA:508498
Marfan Syndrome
Aortic root aneurysm, Flexion contracture, Ascending tubular aorta aneurysm, Decreased muscle mas... OMIM:154700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Agenesis of corpus callosum, Coarctation of aorta OMIM:618748
Myhre Syndrome
Patent ductus arteriosus, Camptodactyly, Hypertension, Generalized muscle hypertrophy, Coarctatio... OMIM:139210
Viss Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Aortic tortuosity, Tortuous cerebral arteries, As... OMIM:619472
Meckel Syndrome, Type 1
Camptodactyly of finger, Patent ductus arteriosus, Asplenia, Vascular dilatation, Coarctation of ... OMIM:249000
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Congestive heart failure, Coarctation of a... ORPHA:90348
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Retinal hemorrhage, Arterial calcification, Weak pulse, Abnormal... ORPHA:51608
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia ORPHA:83617
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Periventricular heterotopia, Hypertension, Coarctation of aorta, Hypert... OMIM:270400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Splenomegaly, Coarctation of aorta OMIM:617088
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Abnormal aortic morphology, Pericarditis, Eosinophilia, Ar... ORPHA:449395
17Q11 Microdeletion Syndrome
Pulmonary arterial hypertension, Leukemia, Telangiectasia of the skin, Hypertension, Coarctation ... ORPHA:97685
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Noonan Syndrome 1
Patent ductus arteriosus, Amegakaryocytic thrombocytopenia, Coarctation of aorta, Hypertrophic ca... OMIM:163950
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Flexion contracture, Vascular ring, Coarctation of aorta, Aortic isthmu... OMIM:180849
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Pulmonary arterial hypertension, Pulmonary hemorrhage, Coarctation of a... ORPHA:363611
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Simplified gyral pattern, Bilateral superior vena cava, Left ventricular hypertrophy, Hypertensio... OMIM:220111
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta, Increased circulating gonadotropin level, Prolonged QT interval, Tachycardi... ORPHA:1772
Osteogenesis Imperfecta
Aortic root aneurysm, Flexion contracture, Cerebral hemorrhage, Aortic aneurysm, Arterial dissect... ORPHA:666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Camptodactyly, Co... OMIM:612474
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurysm, Pulmonary... ORPHA:286
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Truncus arteriosus, Coarctation of aorta, Ectopic posterior pituitary, ... ORPHA:508488
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Alagille Syndrome 1
Coarctation of aorta, Renal artery stenosis, Peripheral pulmonary artery stenosis, Stroke, Tetral... OMIM:118450
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Hypertension, Coarctation of aorta, Increased circulat... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Hypertension, Coarctation of aorta, Increased circulat... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Hypertension, Coarctation of aorta, Increased circulat... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Hypertension, Coarctation of aorta, Increased circulat... ORPHA:99226
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Cardiac conduction abnormality, Ao... ORPHA:353281
Pallister-Hall Syndrome
Patent ductus arteriosus, Distal arthrogryposis, Gonadotropin deficiency, Hypopituitarism, Panhyp... ORPHA:672
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Kabuki Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2322
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Vascular ring, Abnormal lateral ventricle morphology, Coarctation of ao... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Vascular ring, Abnormal lateral ventricle morphology, Coarctation of ao... ORPHA:353277
Catel-Manzke Syndrome
Overriding aorta, Camptodactyly, Coarctation of aorta OMIM:616145
Robinow Syndrome
Pulmonic stenosis, Coarctation of aorta ORPHA:97360
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Lateral ventricle dilatation, Coarctation of aorta OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Asplenia, Flexion contracture, Periventricular heterotopia, Lateral ven... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Flexion contracture, Periventricular heterotopia, Lateral ventricle dilatation, Camptod... ORPHA:261537
Mowat-Wilson Syndrome
Patent ductus arteriosus, Asplenia, Flexion contracture, Periventricular heterotopia, Camptodacty... ORPHA:2152
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Craniofacial Microsomia
Patent ductus arteriosus, Hypoplasia of facial musculature, Coarctation of aorta, Right aortic ar... OMIM:164210
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Pallister-Killian Syndrome
Patent ductus arteriosus, Flexion contracture, Macroglossia, Coarctation of aorta, Congenital dia... OMIM:601803

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 S1pr1

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 S1pr1.

No publications found that use IMPC mice or data for S1pr1.

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MGI Allele Allele Type Produced
S1pr1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S1pr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
S1pr1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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