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Gene: Gper1 MGI:1924104

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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 System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Gper1tm1Dgen HOM   Early adult 9.81×10-05
decreased CD8-positive, alpha-beta T cell number Gper1tm1Dgen HOM Early adult 4.19×10-05
increased IgG2b level Gper1tm1Dgen HOM Early adult 2.78×10-07
decreased T cell number Gper1tm1Dgen HOM   Early adult 3.84×10-06
decreased CD4-positive, alpha-beta T cell number Gper1tm1Dgen HOM   Early adult 3.45×10-06

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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increased glucagon level, Palpitations... OMIM:619290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction... OMIM:608320
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 95
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level OMIM:619773
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
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
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... OMIM:618849
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... OMIM:615513
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Hypertension, Premature coronary artery atherosclerosis, Sudden cardi... OMIM:610947
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... ORPHA:169154
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... OMIM:618534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Pancreatitis, Hypertension, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis,... ORPHA:79084
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Type I diabetes mellitus, Cereb... ORPHA:1192
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t... OMIM:619802
Morbid Obesity And Spermatogenic Failure
Hypertension, Premature coronary artery atherosclerosis, Congestive heart failure, Type II diabet... OMIM:615703
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia OMIM:206100
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... OMIM:613502
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling OMIM:600121
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive OMIM:601410
Gcgr-Related Hyperglucagonemia
Diabetes mellitus, Increased glucagon level, Neoplasm of the pancreas, Abnormal biliary tract mor... ORPHA:438274
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Large for ges... OMIM:601820
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hypothyroidism, Failure to thrive, Hyperglycemia, T... ORPHA:99886
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Hyperglycemia, Acute pancreatitis, Coronary artery atherosclerosis, P... OMIM:608600
Grange Syndrome
Hypertension, Syndactyly, Aortic regurgitation, Short palm, Patent ductus arteriosus, Arterial st... ORPHA:79094
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Increased circulating antibody level, Anemia, Thrombocy... OMIM:615285
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:619510
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Diabetes mellitus, Ischemic stroke, Intracranial hemorrhage, Hyperte... ORPHA:136
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,... ORPHA:277
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia OMIM:615214
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... OMIM:147891
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... OMIM:618944
Takayasu Arteritis
Pulmonary arterial hypertension, Vasculitis, Hypertension, Ascending tubular aorta aneurysm, Cere... ORPHA:3287
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Femoral-Facial Syndrome
Maternal diabetes, Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot p... ORPHA:1988
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly OMIM:185000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... OMIM:615607
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... OMIM:618969
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Accelerated atherosclerosis, Type II diabetes mellitus, Coronary artery atheroscler... OMIM:618620
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Dysbetalipoproteinemia
Aortic atherosclerotic lesion, Diabetes mellitus, Obesity, Hepatomegaly, Premature coronary arter... ORPHA:412
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... ORPHA:276
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis, Truncal obesity, Hypertension, Hyperglycemia, Type II diabetes ... OMIM:615812
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Increased CD4:CD8 ratio,... OMIM:618048
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... OMIM:147630
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... OMIM:300853
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Abnormality of body mass index, Maturity-ons... OMIM:616329
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hypertension, Decreased circulating ACTH level, Hyperglycem... OMIM:615954
Mody
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overwei... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Increased mean cor... OMIM:127550
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy... OMIM:262190
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Short ribs, Rhizomelia, Short tibia, Failure to thrive,... OMIM:607143
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hypertension, Hyperinsulinemia, Cirrhosis, Hyperglycemia, Type II diabetes mel... OMIM:604367
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... OMIM:243700
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Zollinger-Ellison Syndrome
Adrenocortical adenoma, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Incr... ORPHA:913
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Poikilocytosis, Splenomegaly OMIM:615234
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Diabetes mellitus, Pancreatitis, Hypertension, Hepatomegaly, Cirrhosis, Calf m... ORPHA:79083
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... OMIM:616005
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia ORPHA:100024
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... OMIM:185500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Micromelia, Sh... ORPHA:440354
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... ORPHA:331206
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Anemia of inadequate... ORPHA:86839
Immunodeficiency 43
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... OMIM:241600
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... ORPHA:56304
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... OMIM:242700
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Precocious atherosclerosis OMIM:145750
Essential Fructosuria
Hyperglycemia ORPHA:2056
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... ORPHA:91387
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Reduced circulating growth hormone concentration, Decreased cirrculating antimullerian hormone ci... OMIM:300845
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune... ORPHA:572
Ivic Syndrome
Short 1st metacarpal, Absent thumb, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Short... OMIM:147750
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification... OMIM:208000
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, I... OMIM:617052
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Arterial Tortuosity Syndrome
Cardiac arrest, Myocarditis, Hip dislocation, Hip dysplasia, Rocker bottom foot, Hypertrophic car... ORPHA:3342
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, D... OMIM:613011
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Pgm3-Cdg
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... ORPHA:443811
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... OMIM:616897
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Reduced natural killer cell activity, Increased circulating Ig... OMIM:308240
Shwachman-Diamond Syndrome
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Leukemia, Bone marrow hypocellularity, Ch... ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Renal artery stenosis, Coronary artery atherosclerosis, Cerebral artery athero... OMIM:209010
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... ORPHA:369873
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia OMIM:611590
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Stroke, Abnormal cerebral vascular morphology, Abnormal metaphysis morphology, Precocious puberty... ORPHA:2637
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... OMIM:108720
Estrogen Resistance Syndrome
Hyperinsulinemia, Delayed epiphyseal ossification, Glucose intolerance, Abnormality of the adrena... ORPHA:785
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Abnormal sacroilia... ORPHA:1860
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young OMIM:609812
Adult Idiopathic Neutropenia
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... ORPHA:2688
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... OMIM:606367
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obesity, Syndact... OMIM:615986
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:618394
Gaisböck Syndrome
Stroke, Overweight, Increased circulating renin level, Diabetes mellitus, Elevated diastolic bloo... ORPHA:90041
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Hypothyroidism, Hypertension, Sudden cardiac death, Angina... ORPHA:758
Aapoaiv Amyloidosis
Diabetes mellitus, Left ventricular outflow tract obstruction, Abnormal cardiac ventricular funct... ORPHA:439232
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Hypopituitarism, Cerebral hemorrhage, Syncope, Ischemic stroke, Hypertens... ORPHA:90065
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Hepatomegaly, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Osteol... ORPHA:280365
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... ORPHA:331235
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... OMIM:615758
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Pancreatitis, Hepatomegaly, Congestive heart failure, Hepatic steatosis, Insul... ORPHA:2348
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Leukopenia, Increased circulating IgM level ORPHA:83313
Atelosteogenesis Type I
Abnormality of fibula morphology, Abnormal pancreatic duct morphology, Limb undergrowth, Rhizomel... ORPHA:1190
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, 1-3 toe syndactyly, Prea... OMIM:175700
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,... OMIM:226990
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Cerebral hemorrhage, Ischemic stroke, Hypertension, Decreased response to growth... ORPHA:280679
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Hemochromatosis, Type 4
Impaired glucose tolerance, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosi... OMIM:606069
Thalidomide Embryopathy
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... ORPHA:3312
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... OMIM:619652
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Orofaciodigital Syndrome Vi
Clinodactyly, Coarctation of aorta, Postaxial polydactyly, Mesoaxial hand polydactyly, Micrognath... OMIM:277170
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Leukopenia, Lymphopenia, Decreased circulating IgG level, Spleno... OMIM:620210
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... ORPHA:3261
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... OMIM:301081
Grange Syndrome
Coronary artery stenosis, Syndactyly, Renal artery stenosis, Finger clinodactyly, Carotid artery ... OMIM:602531
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic scapulae, Short femur, Mesomelic leg sh... ORPHA:93333
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Reticulocytop... ORPHA:300298
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... OMIM:616100
Achondroplasia
Genu varum, Short ribs, Rhizomelia, Ulnar bowing, Short femur, Short femoral neck, Flared metaphy... OMIM:100800
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Atypical Werner Syndrome
Delayed puberty, Hip dysplasia, Diabetes mellitus, Calf muscle hypertrophy, Fasting hyperinsuline... ORPHA:79474
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Aortic Aneurysm, Familial Thoracic 6
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... OMIM:611788
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... OMIM:617253
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Coarctation of aorta, Polydactyly, Hepatomegaly, Interrupted aortic arch, Failure ... ORPHA:17
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... OMIM:619767
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Sinus bradycardia, Patent ductus arteriosus, Pedal edema, Peripheral arterial ste... OMIM:126320
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Abnormal metacarpophalangeal joint morphology, Diab... ORPHA:465508
Donohue Syndrome
Fasting hypoglycemia, Long foot, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cell h... OMIM:246200
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Phace Association
Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid artery, Congenital ... OMIM:606519
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Stroke, Hyperparathyroidism, Short ribs, Short femur, Short long bone, Fractur... OMIM:618188
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Anemia, Lymphopenia, Increased circulating IgG level... OMIM:615934
Immunodeficiency 23
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... OMIM:615816
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the calf musculature, Renal artery atherosclerosis, Diabetes mellitus, Pancreatiti... ORPHA:565612
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Increased serum testosterone level, Biliary cirrhosis, Increased body weigh... ORPHA:2298
Spondyloepiphyseal Dysplasia Congenita
Flat acetabular roof, Dysplasia of the femoral head, Short femur, Short femoral neck, Abnormal fo... ORPHA:94068
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... OMIM:615559
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Hyperglycemia, Microretrognathia, Tachycardia, Obesity OMIM:619737
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... OMIM:308230
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,... ORPHA:508533
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Homozygous Familial Hypercholesterolemia
Aortic atherosclerotic lesion, Mitral regurgitation, Abnormal internal carotid artery morphology,... ORPHA:391665
Cutis Marmorata Telangiectatica Congenita
Short lower limbs, Arteriovenous malformation, Telangiectasia of the skin, Abnormality of the low... ORPHA:1556
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis OMIM:618463
Gastrocutaneous Syndrome
Type II diabetes mellitus, Coronary artery atherosclerosis ORPHA:2069
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... OMIM:275350
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Menkes Disease
Venous insufficiency, Abnormal metaphysis morphology, Intracranial hemorrhage, Abnormal carotid a... ORPHA:565
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Familial Thrombocytosis
Pulmonary arterial hypertension, Syncope, Transient ischemic attack, Cerebral ischemia, Hyperhidr... ORPHA:71493
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Decreased circulating... OMIM:301078
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Thrombo... ORPHA:507
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Immunodeficiency 40
Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Thrombocytopenia, T lympho... OMIM:616433
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Paget Disease Of Bone 2, Early-Onset
Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of t... OMIM:602080
Classical-Like Ehlers-Danlos Syndrome Type 2
Pes planus, Hip dislocation, Hallux valgus, Prominent veins on trunk, Aortic root aneurysm, Diabe... ORPHA:536532
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma... ORPHA:79124
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Prominent superficial veins, Osteolytic defects of the... OMIM:608612
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Agammaglobulinemia, X-Linked
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... OMIM:300755
Short Syndrome
Enlarged epiphyses, Small for gestational age, Slender long bone, Hyperglycemia, Glucose intolera... OMIM:269880
Lipodystrophy, Familial Partial, Type 2
Prominent superficial veins, Hypertension, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute p... OMIM:151660
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip dislocation, Short thumb, Tetralogy of Fallot, Prolonged neonatal jaundice, Micromelia, Shoul... OMIM:210710
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia OMIM:615966
Acromesomelic Dysplasia 3
Short finger, Short 1st metacarpal, Aplasia of the proximal phalanx of the 2nd finger, Bilateral ... OMIM:609441
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Decreased circulating IgG level, Parti... OMIM:240500
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance, Glycosuria, Diabetes ... ORPHA:2088
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Hypotension, Hyperglycemia, Shock, Bradycardia, Abnormal ... ORPHA:391673
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T cells, Decreased ... ORPHA:90362
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Aorta Coarctation
Stroke, Pulmonary arterial hypertension, Coarctation of the descending aortic arch, Tetralogy of ... ORPHA:1457
Osteogenesis Imperfecta, Type X
Rhizomelia, Micromelia, Short femur, Tibial bowing, Micrognathia, Fibular bowing, Genu valgum, Bo... OMIM:613848
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Eosinophilia, Panhypogammagl... OMIM:602450
Pseudoxanthoma Elasticum
Stroke, Hypertension, Intermittent claudication, Weak pulse, Accelerated atherosclerosis, Angina ... OMIM:264800
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Vasculitis, Pulmonary embolism, Pulmonary artery aneurysm, Arter... ORPHA:228116
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Cholestasis, Cholesterol gallstones, Accelerated atherosclerosis, ... ORPHA:209902
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility, Adrenocortical adenoma ORPHA:681
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Hypoplastic aortic arch, Rocker bottom foot, Micromelia, Long fingers, Short 5th f... ORPHA:508488
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... OMIM:617099
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Arteriosclerosis, Medial calc... OMIM:177850
Catel-Manzke Syndrome
Short humerus, Camptodactyly, Coarctation of aorta, Short metacarpal, Short femur, Overriding aor... OMIM:616145
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... OMIM:208900
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Hallux valgus, Aortic root aneurysm, Shoulder dislocation, Carotid artery stenos... OMIM:618000
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... OMIM:615363
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Stroke, Carotid artery stenosis, Transient ischemic attack, Arteriosclerosis of small cerebral ar... OMIM:600142
Cole Disease
Hyperglycemia, Punctate palmoplantar hyperkeratosis, Palmoplantar keratoderma OMIM:615522
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pulmonic stenosis, Proximal pl... ORPHA:435638
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Micrognathia, Angina pectoris, Congestive heart failur... OMIM:176670
Mandibuloacral Dysplasia With Type A Lipodystrophy
Down-sloping shoulders, Short distal phalanx of finger, Impaired glucose tolerance, Camptodactyly... OMIM:248370
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Failure to thrive, Hyperglycemia, Pancreatic aplasia, H... OMIM:609069
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperglycemia, Biliary atresia, Absent gal... OMIM:615710
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Failure to thriv... ORPHA:99885
Williams Syndrome
Stroke, Tetralogy of Fallot, Patellar dislocation, Hypothyroidism, Myocardial infarction, Choleli... ORPHA:904
Tangier Disease
Hepatomegaly, Splenomegaly, Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis OMIM:205400
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG,... ORPHA:91139
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Coronary artery atherosclerosis, Autoimmune hypoparathyroidis... ORPHA:36913
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Failure to thrive OMIM:615453
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, T lymphocytopenia, Decreased proportion of naive T cells, Decreased... ORPHA:83471
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Increased circulating interleukin 6 concentr... ORPHA:160
Multiple Myeloma
Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased circulating a... ORPHA:29073
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Pu... ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614700
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Glycosuria, Pulmonic stenosis, Diabetes mellitus, Tetralogy of Fallot, Int... OMIM:600001
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Stroke, Jaundice, Pulmonary arterial hypertension, Hypotension, Bone-marrow f... ORPHA:275761
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... ORPHA:769
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Short humerus, Long foot, Increased serum testosterone level, Hypoplast... OMIM:264090
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... ORPHA:363618
Neurofibromatosis Type 1
Delayed puberty, Genu varum, Pheochromocytoma, Abnormal hip bone morphology, Hypertension, Slende... ORPHA:636
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Micrognathia, Short femur, Talipes, Patent ductus arteriosus, Talipes equinovarus, Br... OMIM:300990
Autoimmune Hepatitis
Increased circulating IgG level, Splenomegaly, Increased circulating antibody level ORPHA:2137
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Thoracic a... OMIM:617168
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... OMIM:300291
Vici Syndrome
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Lymphopenia, T lymph... OMIM:242840
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Thyrotoxic Periodic Paralysis
Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t... ORPHA:79102
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Prominent protruding coccyx, Aplasia/Hyp... ORPHA:2839
Truncus Arteriosus
Right aortic arch, Tetralogy of Fallot, Interrupted aortic arch, Abnormal heart valve physiology,... ORPHA:3384
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, I... ORPHA:297
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Anemia, Increased circulating IgM level ORPHA:319251
Femoral-Facial Syndrome
Maternal diabetes, Short humerus, Short fifth metatarsal, Absent vertebra, Pulmonic stenosis, Sho... OMIM:134780
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Scorpion Envenomation
Myocarditis, Stroke, Glycosuria, Arrhythmia, Hypertension, Prominent U wave, Hyperglycemia, Acute... ORPHA:466677
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Eisenmenger Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Brain a... ORPHA:97214
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Camptodactyly of finger, Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertens... ORPHA:217085
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Premature coronary artery atherosclerosis, Fa... OMIM:615947
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Camptodactyly of finger, Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertens... ORPHA:217093
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hip dysplasia, Postprandial hyperglycemia, Cholestasis, Hepatitis, Por... ORPHA:440713
Dend Syndrome
Hyperglycemia, Clinodactyly of the 4th finger ORPHA:79134
Brucellosis
Lung abscess, Leukocytosis, Leukopenia, Liver abscess, Anemia, Granuloma, Increased circulating I... ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Anemia, Decreased circulating total IgA, Reduced natural killer ... OMIM:619381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal circulating in... ORPHA:391487
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Arterial occlusion, Periph... OMIM:259900
Leprechaunism
Fasting hypoglycemia, Hyperaldosteronism, Long foot, Increased circulating renin level, Central h... ORPHA:508
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Dysgammaglobulinemia, T lymphoc... OMIM:251260
Mucopolysaccharidosis Type 2
Hip dysplasia, Arrhythmia, Cardiomyopathy, Hypertension, Hepatomegaly, Abnormal aortic morphology... ORPHA:580
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aortic root aneurysm, Hypoplasia of proximal radius, Obesity, De... ORPHA:444077
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Congenital hip dislocation, Aortic aneurysm, Telangiectasia of ... ORPHA:286
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Apolipoprotein A-I Deficiency
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis ORPHA:425
Sitosterolemia 1
Coronary artery atherosclerosis, Splenomegaly, Carotid artery stenosis OMIM:210250
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Tangier Disease
Hepatosplenomegaly, Coronary artery stenosis, Carotid artery stenosis, Accelerated atherosclerosis ORPHA:31150
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Intrahepatic cholestasis, Glycosuria, Postprandial hyperglycemia, Hepatomeg... OMIM:227810
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Decreased circulating I... OMIM:612301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interferon-gamma concentration, Increased circulating IgA level, Increased ... OMIM:256040
Coccidioidomycosis
Abscess, Granuloma, Increased circulating IgM level, Increased circulating IgG level, Eosinophili... ORPHA:228123
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Cholestasis, Recurrent hypoglycemia, Periportal fibrosis, Failure to thrive, Hypergl... OMIM:124000
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Mitral regurgitation, Coarctation of aorta, Hypertension, Increased he... OMIM:220111
Bloom Syndrome
Decreased circulating total IgM, Abscess, Acute lymphoblastic leukemia, Decreased circulating IgA... ORPHA:125
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency, 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
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Increased circulating IgM level, Increased circulating IgG level, Throm... ORPHA:99827
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Increased circulating IgG1 level, Increased circulating IgE lev... ORPHA:449395
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hepatomegaly, Hypoglycemia, Failure to thrive ORPHA:3008
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Hypohidrosis, Increased circulating prolactin concentration, Central hypothyroid... ORPHA:293987
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Cerebrotendinous Xanthomatosis
Abnormality of the plantar skin of foot, Precocious atherosclerosis, Pes cavus, Abnormal finger m... ORPHA:909
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Abnormal metaphysis morphology, Abnormal finger mor... ORPHA:2636
Familial Osteodysplasia, Anderson Type
Missing ribs, Hypertension, Bifid femur, Aplasia/hypoplasia of the femur, Aplastic clavicle, Clin... ORPHA:2769
Williams-Beuren Syndrome
Down-sloping shoulders, Stroke, Hallux valgus, Mitral regurgitation, Pulmonic stenosis, Diabetes ... OMIM:194050
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating antibody level, Increased circulating IgG level, Normoch... ORPHA:91500
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Neoplasm of the liver, Hepatomegaly, Cirrhosis, Cherry red spot of the macula, H... ORPHA:77293
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia ORPHA:449563
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Hepato... ORPHA:90324
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... 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) Gper1tm1a(KOMP)Wtsi PMC8417792
NLRP3 inhibition improves heart function in GPER knockout mice. Biochemical and biophysical research communications (May 2019) Gper1tm1c(KOMP)Wtsi PMC6545146
Inflammatory and mitochondrial gene expression data in GPER-deficient cardiomyocytes from male and female mice. Data in brief (November 2016) Gper1tm1a(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) Gper1tm1c(KOMP)Wtsi Gper1tm1a(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
Gper1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gper1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gper1em1(IMPC)Hmgu Deletion Mice

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