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Gene: Gper1 MGI:1924104

Gene Summary

Name:

G protein-coupled estrogen receptor 1

Synonyms:

Ceprl, 6330420K13Rik, CMKRL2, FEG-1, Gpr30, GPCR-Br, Gper

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular volume	Gper1^tm1Dgen	HOM	Early adult	9.81×10^-05
increased IgG2b level	Gper1^tm1Dgen	HOM	Early adult	2.78×10^-07
decreased CD4-positive, alpha-beta T cell number	Gper1^tm1Dgen	HOM	Early adult	3.45×10^-06
decreased CD8-positive, alpha-beta T cell number	Gper1^tm1Dgen	HOM	Early adult	4.19×10^-05
decreased T cell number	Gper1^tm1Dgen	HOM	Early adult	3.84×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

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 Gper1 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.

Human diseases associated with Gper1 (0 diseases)
Human diseases predicted to be associated with Gper1 (470 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gper1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
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
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Coronary Artery Disease, Autosomal Dominant, 1	Premature coronary artery atherosclerosis, Obesity, Hypertension, Myocardial infarction, Diabetes...	OMIM:608320
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Mahvash Disease	Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasi...	OMIM:619290
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Coronary Artery Disease, Autosomal Dominant 2	Premature coronary artery atherosclerosis, Glucose intolerance, Type II diabetes mellitus, Sudden...	OMIM:610947
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Coronary artery atherosclerosis, Hyperte...	ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease...	OMIM:619802
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Arterial stenosis, Cerebral artery atherosclerosis, Coronary artery ath...	ORPHA:1192
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Premature coronary artery atherosclerosis, Congestive heart failure, Obesity,...	OMIM:615703
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet...	ORPHA:99886
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive	OMIM:601410
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Grange Syndrome	Aortic regurgitation, Arterial stenosis, Hypertension, Patent ductus arteriosus, Short palm, Synd...	ORPHA:79094
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Coronary artery atherosclerosis, Hypertension...	OMIM:608600
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Hyperte...	ORPHA:136
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho...	ORPHA:277
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection...	ORPHA:229
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u...	OMIM:620632
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:603909
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi...	ORPHA:3287
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Dysbetalipoproteinemia	Acute pancreatitis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Obe...	ORPHA:412
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Type II diabetes mellitus, Coronary artery atherosclerosis, Accelerated atherosclerosis,...	OMIM:618620
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ...	OMIM:606762
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Stroke, Truncal obesity, Abdo...	OMIM:615812
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Peripheral arterial stenosis, Retinal arteriolar constriction	OMIM:124950
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age	OMIM:606176
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
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
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Failure to thrive, Hypoglycemia, Sandal gap, Short humerus, Short ribs, ...	OMIM:607143
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:911
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Prominent veins on trunk, Atherosclerosi...	ORPHA:79083
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ...	ORPHA:56304
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole...	ORPHA:369873
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria	OMIM:618857
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re...	ORPHA:572
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Pes planus, Carotid artery dilat...	ORPHA:91387
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Small hand, Premature coronary artery atheroscler...	OMIM:300845
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Hypertriglyceridemia 1	Hypopituitarism, Precocious atherosclerosis, Glucose intolerance	OMIM:145750
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Arterial Tortuosity Syndrome	Aortic root aneurysm, Arachnodactyly, Hip dislocation, Hypertrophic cardiomyopathy, Avascular nec...	ORPHA:3342
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Decreased fibular diameter, Hypertrophic cardiomyopathy, Micrognathia, Short r...	OMIM:616897
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Hypoalphalipoproteinemia, Primary, 1	Premature coronary artery atherosclerosis, Myocardial infarction	OMIM:604091
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Diabetes mellitus, Cerebral artery atherosclerosis, Coronary artery athero...	OMIM:209010
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Abnormal cerebral vascular morphol...	ORPHA:2637
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Gaisböck Syndrome	Elevated diastolic blood pressure, Obesity, Cholecystitis, Coronary artery atherosclerosis, Strok...	ORPHA:90041
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Hyperglycemia, Obesity, Polydactyly, Postaxial polydactyly, Brachydac...	OMIM:615986
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A...	ORPHA:758
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:169160
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Atelosteogenesis Type I	Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ...	ORPHA:1190
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Hepatic steatosis, Hepatomegaly, Atherosclerosis, Hypertrophic cardiomyopathy, Acro...	ORPHA:280365
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is...	ORPHA:90065
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Absence of secondary sex characteristics, Absence of pubertal de...	ORPHA:785
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Moyamoya phenomeno...	ORPHA:280679
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Orofaciodigital Syndrome Vi	Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f...	OMIM:277170
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Thalidomide Embryopathy	Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru...	ORPHA:3312
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Hepat...	ORPHA:2348
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Broad hallux, Preaxial hand polyda...	OMIM:175700
Hemochromatosis, Type 4	Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly, Diab...	OMIM:606069
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum...	ORPHA:93333
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Pedal ...	OMIM:126320
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Ulnar bowing, Short r...	OMIM:100800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis...	OMIM:134780
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ...	OMIM:242860
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Renal artery stenosis, Decreased body weight, Caro...	OMIM:602531
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi...	OMIM:211350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hepatic st...	ORPHA:17
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Cone-shap...	OMIM:617253
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Hyperglycem...	ORPHA:465508
Atypical Werner Syndrome	Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micr...	ORPHA:79474
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Phace Association	Congenital hypothyroidism, Arterial stenosis, Lingual thyroid, Coarctation of aorta, Aortic aneur...	OMIM:606519
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu...	OMIM:615934
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Fractured rib, Metaphyseal spurs, Femoral bowing, Splenic cyst, Short ribs, ...	OMIM:618188
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Palpitations, Splenomegaly, Renal artery atherosclerosi...	ORPHA:565612
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under...	ORPHA:94068
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Failure to thrive, Clinodactyly, Broad hallux, Pes planus,...	OMIM:620494
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Hyperglycemia, Obesity, Tachycardia, Hypergonadotropic hypogonadism	OMIM:619737
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co...	ORPHA:2298
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Homozygous Familial Hypercholesterolemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot...	ORPHA:391665
Hypoalphalipoproteinemia, Primary, 2	Premature coronary artery atherosclerosis	OMIM:618463
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Arterial stenosis, Micrognathia, A...	ORPHA:1556
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, In...	OMIM:617388
Gastrocutaneous Syndrome	Type II diabetes mellitus, Coronary artery atherosclerosis	ORPHA:2069
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol...	OMIM:616433
Menkes Disease	Gastrointestinal hemorrhage, Hypoglycemia, Arterial stenosis, Micrognathia, Intracranial hemorrha...	ORPHA:565
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Familial Thrombocytosis	Transient ischemic attack, Cerebral ischemia, Splenomegaly, Weight loss, Syncope, Hyperhidrosis, ...	ORPHA:71493
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Sitosterolemia 2	Premature coronary artery atherosclerosis	OMIM:618666
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Sandal gap, Prominent veins on trunk, Knee dislocation, Abnormal foot morph...	ORPHA:536532
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive	ORPHA:2089
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga...	ORPHA:79124
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones...	OMIM:602080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th...	OMIM:210710
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Glucose intol...	OMIM:608612
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Short Syndrome	Insulin resistance, Clinodactyly, Insulin-resistant diabetes mellitus, Slender long bone, Radial ...	OMIM:269880
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level...	OMIM:609441
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Atherosclerosis, Hyperglycemia, Hyperinsulinemia, Type II di...	OMIM:151660
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc...	ORPHA:2088
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ...	ORPHA:228116
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Osteogenesis Imperfecta, Type X	Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Bowing of the l...	OMIM:613848
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Talipes, Pes planus, Short hallux, Hypoplastic aortic arch, Patent d...	ORPHA:508488
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi...	OMIM:177850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Aortic atherosclerotic lesion, Obesity, Hepatic ...	ORPHA:209902
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Atherosclerosis, Decreased response ...	OMIM:203800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Premature coronary artery atherosclerosis	OMIM:620058
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro...	OMIM:616145
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Knee dislocation, Micrognathia, Pes planus, Hallux valgus, Carotid artery s...	OMIM:618000
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar...	OMIM:600142
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
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat...	ORPHA:275
Hutchinson-Gilford Progeria Syndrome	Premature coronary artery atherosclerosis, Congestive heart failure, Micrognathia, Angina pectori...	OMIM:176670
Necrotizing Enterocolitis	Hypotension, Shock, Hyperglycemia, Abnormal glucose homeostasis, Peritonitis, Bradycardia, Small ...	ORPHA:391673
Aorta Coarctation	Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten...	ORPHA:1457
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Coronary arte...	ORPHA:435638
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv...	ORPHA:99885
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ...	OMIM:615710
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Overlapping fingers, Diabe...	OMIM:609069
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Williams Syndrome	Micrognathia, Type II diabetes mellitus, Genu valgum, Mitral regurgitation, Radioulnar synostosis...	ORPHA:904
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Coronary artery atherosclerosis, Prolonged QT interval, Ventricula...	ORPHA:36913
Tangier Disease	Atherosclerosis, Splenomegaly, Coronary artery atherosclerosis, Hepatomegaly, Myocardial infarction	OMIM:205400
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsuline...	OMIM:248370
Beta-Ketothiolase Deficiency	Hypotension, Hypoglycemia, Hyperglycemia, Weight loss, Hepatomegaly, Hypertension	ORPHA:134
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,...	ORPHA:83471
Castleman Disease	Anemia, Decreased mean corpuscular volume, Increased circulating interleukin 6 concentration, Thr...	ORPHA:160
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Prominen...	ORPHA:3455
Cole Disease	Hyperglycemia, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis	OMIM:615522
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Short femur	OMIM:617798
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Tetralogy of Fallo...	OMIM:600001
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449432
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hypotension, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Prim...	ORPHA:275761
Paget Disease Of Bone 6	Coronary artery atherosclerosis	OMIM:616833
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Failure to thrive, Clinodactyly, Slender long bone, Long foot, Prominent scalp ...	OMIM:264090
Autoimmune Hepatitis	Increased circulating IgG level, Splenomegaly, Increased circulating antibody level	ORPHA:2137
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les...	ORPHA:363618
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pes planus, Clinodact...	OMIM:300990
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:617591
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Second degree atrioventricular block, Obesity, Palpit...	ORPHA:79102
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom...	ORPHA:2839
Neurofibromatosis Type 1	Precocious puberty, Slender long bone, Pheochromocytoma, Genu valgum, Abnormal hip bone morpholog...	ORPHA:636
Rift Valley Fever	Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H...	ORPHA:466677
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Abnormal aortic morpho...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Abnormal aortic morpho...	ORPHA:217093
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:140905
Dend Syndrome	Hyperglycemia, Clinodactyly of the 4th finger	ORPHA:79134
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Brain a...	ORPHA:97214
Hyperlipoproteinemia, Type Id	Premature coronary artery atherosclerosis, Failure to thrive, Splenomegaly, Recurrent pancreatiti...	OMIM:615947
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:619381
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,...	ORPHA:1304
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Mucopolysaccharidosis Type 2	Cardiomyopathy, Peripheral arterial stenosis, Abnormal aortic morphology, Splenomegaly, Arrhythmi...	ORPHA:580
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera...	ORPHA:508
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph...	OMIM:259900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Aortic root aneurysm, Hypoplasia of proximal radius, Decreased response to growth hor...	ORPHA:444077
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t...	OMIM:620040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Sitosterolemia 1	Carotid artery stenosis, Splenomegaly, Coronary artery atherosclerosis	OMIM:210250
Apolipoprotein A-I Deficiency	Angina pectoris, Premature coronary artery atherosclerosis, Atherosclerosis	ORPHA:425
Vascular Ehlers-Danlos Syndrome	Arterial dissection, Congenital hip dislocation, Pulmonary artery aneurysm, Arteriovenous fistula...	ORPHA:286
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Igg4-Related Kidney Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449395
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Fasting hypo...	OMIM:227810
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:125
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Decreased circula...	OMIM:612301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Tangier Disease	Hepatosplenomegaly, Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis	ORPHA:31150
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc...	ORPHA:228123
Lcat Deficiency	Premature coronary artery atherosclerosis, Atherosclerosis	ORPHA:650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypoglycemia, Bilateral superior vena cava, Hypertrophic cardiomyopathy, Hyper...	OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg...	OMIM:124000
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ...	OMIM:620376
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia	ORPHA:449427
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycemia, Hypoglycemia, Ankle clonus	OMIM:620423
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Cerebrotendinous Xanthomatosis	Cholelithiasis, Premature coronary artery atherosclerosis, Abnormality of the plantar skin of foo...	ORPHA:909
Hypercholesterolemia, Familial, 1	Coronary artery atherosclerosis	OMIM:143890
Hypercholesterolemia, Familial, 2	Coronary artery atherosclerosis	OMIM:144010
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Fifth finger distal phalanx clinodactyly, Finger syndactyly...	ORPHA:110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Broad distal phalanx of finger, Abnormal circulating calcium-phosphate regulat...	ORPHA:2636
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Missing ribs, Aplasia/hypoplasia of the femur, Clinodactyly of th...	ORPHA:2769
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Failure to thrive in infancy, Ret...	OMIM:194050
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural...	ORPHA:90324
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Cherry red spot of the macula, Hypersplenism, Splenomegaly, Coronary artery ather...	ORPHA:77293
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472

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 Gper1

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 Gper1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
G-Protein-Coupled Estrogen Receptor-1 Positively Regulates the Growth Plate Chondrocyte Proliferation in Female Pubertal Mice.	Frontiers in cell and developmental biology (August 2021)	Gper1^{tm1a(KOMP)Wtsi}	PMC8417792
NLRP3 inhibition improves heart function in GPER knockout mice.	Biochemical and biophysical research communications (May 2019)	Gper1^{tm1c(KOMP)Wtsi}	PMC6545146
Inflammatory and mitochondrial gene expression data in GPER-deficient cardiomyocytes from male and female mice.	Data in brief (November 2016)	Gper1^{tm1a(KOMP)Wtsi}	PMC5198850
Cardiomyocyte-specific deletion of the G protein-coupled estrogen receptor (GPER) leads to left ventricular dysfunction and adverse remodeling: A sex-specific gene profiling analysis.	Biochimica et biophysica acta (October 2016)	Gper1^{tm1c(KOMP)Wtsi} Gper1^{tm1a(KOMP)Wtsi}	PMC5385168

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
Gper1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Gper1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Gper1^{em1(IMPC)Hmgu}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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