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
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Fibromuscular Dysplasia, Arterial
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... OMIM:616050
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... OMIM:619313
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Splenomegaly OMIM:609981
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Decreased proportion o... OMIM:243700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... ORPHA:99050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Tetralogy of Fallot, Transient ischemic attack, Palpitatio... ORPHA:1330
Transaldolase Deficiency
Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Thrombocytopenia, Anemia ORPHA:101028
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Thoracic aortic aneurysm, Ascending aortic dissection OMIM:616166
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Arteria lusoria, Decreased proportion of CD4-positive helper T... ORPHA:221139
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Coarctation of aorta, Leukopenia, Splenomegaly OMIM:620210
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co... OMIM:614823
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Pulmonary arterial hypertension, Neutropenia, Thrombocytopenia, Patent duct... OMIM:614857
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Septopreoptic Holoprosencephaly
Coarctation of aorta, Anterior hypopituitarism, Perisylvian polymicrogyria ORPHA:280195
Cardiac Diverticulum
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Abnormality of the diaphrag... ORPHA:1686
Activated Pi3K-Delta Syndrome
Decreased circulating antibody level, Increased circulating IgM level, Splenomegaly, B lymphocyto... ORPHA:397596
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Abnormal hemidiaphragm morphology, Cong... ORPHA:185
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension OMIM:616069
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec... OMIM:601495
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Ascending... OMIM:620080
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Aorta Coarctation
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... ORPHA:1457
Holt-Oram Syndrome
Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ... ORPHA:392
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... ORPHA:2299
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Abnormal aortic morphology ORPHA:3405
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Left axis deviation, Truncus arteriosus, Tra... OMIM:620294
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Telangiectasia, Coarctation of aorta, Thrombocyto... OMIM:606003
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... OMIM:613426
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Portal hyperten... ORPHA:79124
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Periventricular heterotopia, Agenesis of corpus callosum, Coarctation of... OMIM:618929
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Double Outlet Right Ventricle
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Coarctation of a... ORPHA:3426
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Coarctation of aorta, Patent ductus art... ORPHA:1120
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Righ... OMIM:608978
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... OMIM:619381
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis ORPHA:284169
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphrag... ORPHA:251071
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Polysplenia, Tetralo... OMIM:208530
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... ORPHA:1926
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Mitral stenosis, Agenesis of corpus callos... OMIM:617260
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Truncus Arteriosus
Abnormal coronary artery morphology, Single coronary artery origin, Tachycardia, Patent ductus ar... ORPHA:3384
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Myopathy, Abnormal natural killer cell count OMIM:612782
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Multilobulated spleen, Tetralogy of Fallot, Congen... OMIM:601186
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli... OMIM:615966
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Thoracic aorta calcification, Aortic arch aneurysm, ... ORPHA:402075
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Meacham Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Abnormality of the spleen, Conotruncal defect, Congen... ORPHA:3097
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis OMIM:616559
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Aplastic anemia, Patent ductus arteriosus, Thrombocytopenia OMIM:300514
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Aortic root aneurysm, Generalized arterial tortuosit... OMIM:208050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta, Polymicrogyria OMIM:618494
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Agenesis of... ORPHA:96147
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Abnormal aortic morphology, Abnormality o... ORPHA:991
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Dec... ORPHA:1900
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Skeletal muscle atrophy, Pulmonic stenosis OMIM:614300
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Camptodactyly of finger ORPHA:2876
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot... ORPHA:2306
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:617159
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Polymicrogyria, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic s... OMIM:618343
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Coarctation of aorta, Left ve... OMIM:616564
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Dextrotransposition of the g... OMIM:270100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Right-to-left shunt, Tetralogy of Fallot, D... OMIM:265380
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return ORPHA:261183
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Agenesis of corpus ca... ORPHA:2396
Galloway-Mowat Syndrome 3
Coarctation of aorta, Camptodactyly, Pachygyria, Hypertension, Lissencephaly, Simplified gyral pa... OMIM:617729
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Camptodactyly of finger, Elbow flexion contracture,... ORPHA:1692
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ... OMIM:212093
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Agenesis of corpus callosum, Coarctation of aorta, Partial a... ORPHA:3338
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Atrioventricular block, Hypertension, Double outlet right ventricle ORPHA:371428
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Camptodactyly of finger, Aortic aneu... ORPHA:60030
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Coarctation of aorta, Pulmo... OMIM:614921
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:1001
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Kleefstra Syndrome
Tetralogy of Fallot, Agenesis of corpus callosum, Pulmonary artery stenosis, Arrhythmia, Coarctat... ORPHA:261494
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Pineal cyst, Patent... OMIM:600268
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Coarctation of... ORPHA:2008
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral stenosis, Pulmonary artery stenosis, Coarctat... OMIM:605275
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology ORPHA:63
Fg Syndrome Type 1
Small pituitary gland, Coarctation of aorta, Pulmonary arterial hypertension, Progressive flexion... ORPHA:93932
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia, Dextrotranspo... OMIM:306955
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Joint contracture of the hand, Aor... OMIM:610168
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of ... ORPHA:284984
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Abnormality of the thenar... ORPHA:124
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abnormal aortic morphology, C... ORPHA:2162
Orofaciodigital Syndrome Vi
Polymicrogyria, Periventricular nodular heterotopia, Agenesis of corpus callosum, Coarctation of ... OMIM:277170
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta, Decreased response to growth hormone stimulation test OMIM:614114
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Rhabdomyosarcoma, Abnormal aortic morphology, Coarctati... ORPHA:1052
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber predominanc... OMIM:614557
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta, Facial palsy ORPHA:2780
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Lowry-Maclean Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:2409
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Congestive heart failure, Elevate... OMIM:105650
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... OMIM:620025
Pseudotrisomy 13 Syndrome
Coarctation of aorta, Agenesis of corpus callosum, Polymicrogyria OMIM:264480
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnorma... ORPHA:84
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Coarctation of aorta, Aortic root aneurysm, Congenital diaphragmatic hernia OMIM:617602
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the s... ORPHA:648
Developmental Delay With Or Without Dysmorphic Facies And Autism
Polymicrogyria, Congenital diaphragmatic hernia, Coarctation of aorta, Pulmonary arterial hyperte... OMIM:618454
Loeys-Dietz Syndrome 3
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... OMIM:613795
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Abnormal aortic morpho... ORPHA:217085
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... ORPHA:558
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Abnormal aortic morpho... ORPHA:217093
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Agenesis of corpu... ORPHA:42775
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... ORPHA:99125
Opitz Gbbb Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Persistent le... ORPHA:2745
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Distal arthrogryposis, Facial hypotonia, Lateral ventricle di... OMIM:617557
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Kabuki Syndrome 2
Coarctation of aorta, Pulmonic stenosis OMIM:300867
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal aortic morphology, Splenomegaly, Flexi... ORPHA:580
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Shoulder flexion contracture, Lateral ventricle dilatation, Pachygyri... OMIM:210710
Ch├ędiak-Higashi Syndrome
Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m... ORPHA:167
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, Coarctation of aorta, Eosinophilia, Thromb... OMIM:274000
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Portal hypertension, Splenomegaly, Pulmonary artery stenosis, ... OMIM:301068
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Congenital diaphragmatic hernia, Agenesis of corpus callosum ORPHA:268249
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology, Eosinophilia, Abnormality of the anterior pituitary, Peric... ORPHA:449395
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Unilateral facial palsy, Torticollis, Partial agenesis of the corpus callos... OMIM:619480
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Agenesis of corpus callosum, Coarctation of a... ORPHA:2308
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Agenesis of corpus callosum, Truncus arteriosus, Coarc... ORPHA:508498
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventri... OMIM:618164
Marfan Syndrome
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Conge... OMIM:154700
Maternal Phenylketonuria
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle ORPHA:2209
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... OMIM:619472
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Coarctation of aorta, Camptodactyly, Hyperten... OMIM:139210
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta, Agenesis of corpus callosum OMIM:618748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia ORPHA:83617
Generalized Arterial Calcification Of Infancy
Aortic dissection, Medial calcification of large arteries, Arterial calcification, Transient isch... ORPHA:51608
Meckel Syndrome, Type 1
Accessory spleen, Camptodactyly of finger, Splenomegaly, Agenesis of corpus callosum, Coarctation... OMIM:249000
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Periventricular heterotopia, Splenomegaly, Coarctation of aorta, Col... OMIM:270400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... ORPHA:90348
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Camptodactyly of finger ORPHA:1507
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Joint contracture of the 5th finger, Coarctation of a... ORPHA:363611
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Rubinstein-Taybi Syndrome 1
Accessory spleen, Aortic isthmus hypoplasia, Agenesis of corpus callosum, Persistent left superio... OMIM:180849
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnormal intern... ORPHA:97685
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Coarctation of aorta, Amegakaryocy... OMIM:163950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral regurgitation, Coarctation of a... OMIM:220111
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta, Muscle hypertrophy of the lower extremities, Increased circulating gonadotr... ORPHA:1772
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Truncus arteriosus, Coarctation of aort... ORPHA:508488
Femoral-Facial Syndrome
Camptodactyly of finger, Agenesis of corpus callosum, Truncus arteriosus, Coarctation of aorta, P... OMIM:134780
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneury... ORPHA:666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Truncus arteriosus, Coarctation of aorta, Transposition of the great arteri... OMIM:612474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Coarctation of aorta, Paten... ORPHA:353281
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99413
Turner Syndrome
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99228
Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99226
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Stroke, Coarcta... OMIM:118450
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Pallister-Hall Syndrome
Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Gonadotropin deficiency... ORPHA:672
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Abnormal lateral ventricle morphology, Cardiac conduction a... ORPHA:353277
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta, Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Kabuki Syndrome
Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:2322
Catel-Manzke Syndrome
Camptodactyly, Overriding aorta, Coarctation of aorta OMIM:616145
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Robinow Syndrome
Coarctation of aorta, Pulmonic stenosis ORPHA:97360
Kabuki Syndrome 1
Coarctation of aorta, Autoimmune thrombocytopenia, Hemolytic anemia, Lateral ventricle dilatation OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Lateral ventricle dilatation, Hyphema, Polymicrogyria, Tetralogy of Fallot... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Lateral ventricle dilatation, Polymicrogyria, Tetralogy of Fallot, Periven... ORPHA:261537
Mowat-Wilson Syndrome
Aortic valve stenosis, Polymicrogyria, Tetralogy of Fallot, Periventricular heterotopia, Agenesis... ORPHA:2152
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Agenesis of corpus call... OMIM:164210
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Hypertrophic cardiomyopathy, Congenital ... 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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