Gene Summary

Name:
G protein-coupled estrogen receptor 1
Synonyms:
Ceprl,  6330420K13Rik,  CMKRL2,  FEG-1,  Gpr30,  GPCR-Br,  Gper

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... 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
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Coronary Artery Disease, Autosomal Dominant, 1
Premature coronary artery atherosclerosis, Hypertension, Obesity, Diabetes mellitus, Myocardial i... 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
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... 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
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... OMIM:269840
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Hypertension, Impaired glucose tolerance, Type II diab... 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, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Coronary artery atherosclerosis, Hypertension, Insu... ORPHA:79084
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... OMIM:619220
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Hypertension, Arterial stenosis, Type I diabetes mellitus, Cereb... ORPHA:1192
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased circulating total IgM, Decreased proportion of CD8-positiv... OMIM:619802
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Premature coronary artery atherosclerosis, Hypertension, Obesity, Type ... OMIM:615703
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte... ORPHA:79094
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Coronary artery atherosclerosis, Hypertension, Acute pancreatitis, Hyperglycemia, P... OMIM:608600
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... ORPHA:229
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Takayasu Arteritis
Vascular dilatation, Vasculitis, Ascending tubular aorta aneurysm, Hypertension, Cerebral ischemi... ORPHA:3287
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Abnormal pelvic girdle bone morphology, Coxa vara,... ORPHA:1988
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Dysbetalipoproteinemia
Hepatomegaly, Type IV atherosclerotic lesion, Premature coronary artery atherosclerosis, Angina p... ORPHA:412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Abdominal Obesity-Metabolic Syndrome 4
Coronary artery atherosclerosis, Hypertension, Accelerated atherosclerosis, Obesity, Type II diab... OMIM:618620
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Increased circulatin... ORPHA:276
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl... OMIM:209950
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop... OMIM:618048
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:300853
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Abdomin... OMIM:615812
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancre... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
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
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short femur, Failure to thrive, Sho... OMIM:607143
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hypertension, Hyperglycemia, Type II diabetes mel... OMIM:604367
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
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
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Pituitary growth hormone cell adenoma, Pituitary corticotropic cell ... ORPHA:913
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Coronary arte... ORPHA:79083
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... OMIM:308240
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Obesity, Glucose intolerance, Postural hypotension with compensato... ORPHA:369873
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... 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
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, U... ORPHA:56304
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Increased circulating IgA level, A... OMIM:612783
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... OMIM:240500
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Broad finger, Decreased response to growth hormone stimulation test, Decreas... OMIM:300845
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Precocious atherosclerosis OMIM:145750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Arachnodactyly, Descending aortic dissection, P... ORPHA:91387
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo... OMIM:613011
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Arterial Tortuosity Syndrome
Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Coxa valga,... ORPHA:3342
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy, Decreased fibular diameter, Micrognat... OMIM:616897
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Myocardial infarction OMIM:604091
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery athero... OMIM:209010
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Patent ductus arteriosus, Vascula... ORPHA:2637
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Patent ductus arteriosus, Short greater sciatic notch, Femoral bo... ORPHA:1860
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Angina pectoris, Stroke, Hype... ORPHA:90041
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Coronary artery atherosclerosis, Abnormal cardiac ventr... ORPHA:439232
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Obesity, Hyperglycemia, Syndactyl... OMIM:615986
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Atherosclerosis, Vascular dilatation, Angina pectoris, Hypertension,... ORPHA:758
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Abnormal pancreatic duct morphology, Short long bone, Mic... ORPHA:1190
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Precocious atherosclerosis, Splenomegaly, Hepatic steatosis, Coronary artery atherosclerosis, Dec... ORPHA:280365
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Ischemic stroke, Decreased response to growth hormone stimulation test, Moyamoya... ORPHA:280679
Immunodeficiency 32B
Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopenia, Splenomega... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Thalidomide Embryopathy
Aplasia/hypoplasia of the femur, Abnormal fibula morphology, Radial club hand, Triphalangeal thum... ORPHA:3312
Immunodeficiency 92
Abnormal B cell proliferation, Decreased proportion of class-switched memory B cells, Lymphocytos... OMIM:619652
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Arrhyth... OMIM:606069
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... OMIM:620210
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Hypertroph... ORPHA:2348
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metacarpals, Broad... OMIM:175700
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis, Mesomelic leg shortening, ... ORPHA:93333
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndactyly, Absent vertebra, T... OMIM:134780
Achondroplasia
Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Short ... OMIM:100800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve... OMIM:616100
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Donohue Syndrome
Long foot, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precoci... OMIM:246200
Grange Syndrome
Decreased body weight, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension... OMIM:602531
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Pedal ... OMIM:126320
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Seckel Syndrome 10
Congestive heart failure, Slender long bone, Hypertension, Acute pancreatitis, Impaired glucose t... OMIM:617253
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level... OMIM:243700
Atypical Werner Syndrome
Delayed puberty, Rocker bottom foot, Calf muscle hypertrophy, Hypertension, Aortic valve stenosis... ORPHA:79474
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Hepatomegaly, Interrupted aortic arch, Hypertrophic cardiomyopathy, Short femur, Fai... ORPHA:17
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Phace Association
Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s... OMIM:606519
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Stroke, Femoral bowing, Short ribs, Short long bone, Metaphyseal spurs, Fractured r... OMIM:618188
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Leukopenia, Lymphopenia... OMIM:615934
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Foot oligodactyly OMIM:601357
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Angina pectoris, Low-output congesti... ORPHA:565612
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Genu valgum, Small epiphyses, Upper limb undergrowth, Short long bone, ... ORPHA:94068
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Short femur, Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion,... OMIM:620494
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Absent isohemaggl... OMIM:615559
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia, Microretrognathia, Tachycardia OMIM:619737
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature arteriosclerosis, Abnormal left ventricular function, Aorti... ORPHA:391665
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis OMIM:618463
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Finger syndactyly, Abnormality of the lower limb, Hypothyroidism, Sho... ORPHA:1556
Gastrocutaneous Syndrome
Type II diabetes mellitus, Coronary artery atherosclerosis ORPHA:2069
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Sp... OMIM:617388
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Menkes Disease
Abnormal metaphysis morphology, Abnormal carotid artery morphology, Gastrointestinal hemorrhage, ... ORPHA:565
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Hyperhidrosis, Spl... ORPHA:71493
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormal foot morphology, Hammertoe, Sandal gap, Aortic root aneurysm, Hallux valgus, Shoulder di... ORPHA:536532
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... OMIM:300755
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Decreased circulating Ig... OMIM:618278
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Short ... OMIM:608612
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Hypertension, Bifid first metacarpal, Short metacarpal, Prol... OMIM:210710
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Hypertension, Acute pancreatitis, Hyperglycemia, Type II diabetes... OMIM:151660
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Short Syndrome
Radial deviation of finger, Slender long bone, Enlarged epiphyses, Micrognathia, Hyperglycemia, P... OMIM:269880
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Arterial stenosis, Pulmon... ORPHA:228116
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... ORPHA:90362
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Micromelia, Mic... OMIM:613848
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Short 5th finger, Long toe, Ectopic posterior pi... ORPHA:508488
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Alstrom Syndrome
Polydactyly, Congestive heart failure, Decreased response to growth hormone stimulation test, Hyp... OMIM:203800
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole... ORPHA:209902
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Thrombocytopeni... OMIM:304790
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short femur, Short tibia, Tricuspid regurgitation OMIM:620306
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ... OMIM:616145
Ehlers-Danlos Syndrome, Classic-Like, 2
Hammertoe, Aortic root aneurysm, Shoulder dislocation, Knee dislocation, Micrognathia, Squared il... OMIM:618000
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Stroke, Arteriosclerosis of small cerebral arteries, Transient ischemic attack, Lacunar stroke, C... OMIM:600142
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Premature coronary artery atherosclerosis, Angina pectoris, Precocious ... OMIM:176670
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Bradycardia, Hypotension, Hyperglycemia, Peritonitis, Small for ges... ORPHA:391673
Aorta Coarctation
Congestive heart failure, Hypoplastic aortic arch, Coronary artery atherosclerosis, Coarctation o... ORPHA:1457
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic ... ORPHA:435638
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... ORPHA:436159
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hypovolemia, Glycosuria, Reduced pancreatic beta cells, Failure to thrive,... ORPHA:99885
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Hypoglycemia, Diabet... OMIM:609069
Williams Syndrome
Abnormal carotid artery morphology, Hypertension, Cerebral ischemia, Pulmonic stenosis, Abnormal ... ORPHA:904
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalanges of th... OMIM:248370
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Tangier Disease
Hepatomegaly, Coronary artery atherosclerosis, Splenomegaly, Atherosclerosis, Myocardial infarction OMIM:205400
Autoimmune Hypoparathyroidism
Prolonged QT interval, Coronary artery atherosclerosis, Autoimmune hypoparathyroidism, Ventricula... ORPHA:36913
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Hypotension, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Castleman Disease
Increased circulating interleukin 6 concentration, Thrombocytopenia, Anemia, Decreased mean corpu... ORPHA:160
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:615453
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Wiedemann-Rautenstrauch Syndrome
Pulmonic stenosis, Hypoplastic vertebral bodies, Short humerus, Long toe, Hepatic steatosis, Decr... ORPHA:3455
Cole Disease
Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, Hyperglycemia OMIM:615522
Multiple Myeloma
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... ORPHA:29073
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Heart Defects, Congenital, And Other Congenital Anomalies
Transposition of the great arteries, Biliary atresia, Interrupted aortic arch, Pancreatic hypopla... OMIM:600001
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Lysosomal Acid Lipase Deficiency
Jaundice, Coronary artery atherosclerosis, Microvesicular hepatic steatosis, Cachexia, Stroke, Bo... ORPHA:275761
Wiedemann-Rautenstrauch Syndrome
Long foot, Increased serum testosterone level, Talipes equinovarus, Slender long bone, Hypoplasia... OMIM:264090
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Rabson-Mendenhall Syndrome
Polydactyly, Increased serum testosterone level, Fasting hypoglycemia, Cardiomyopathy, Impaired g... ORPHA:769
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level, Splenomegaly ORPHA:2137
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ab... ORPHA:363618
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Talipes, Clinodactyly of the 5th finger, Short femur, Micrognathi... OMIM:300990
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia ORPHA:319218
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Thyrotoxicosis with diffu... ORPHA:79102
Neurofibromatosis Type 1
Delayed puberty, Genu valgum, Abnormal hip bone morphology, Abnormality of the endocrine system, ... ORPHA:636
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... ORPHA:2839
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Stroke, Hypertension, Acute pancreatitis... ORPHA:466677
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS complex, Pulmonary venous... ORPHA:75565
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Camptodacty... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Camptodacty... 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
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia, Brain a... ORPHA:97214
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Premature coronary artery atherosclerosis, Failure to thrive, Splenom... OMIM:615947
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Cholestasis, Portal hypertension, Hip dysplasia, Hepatitis, Postprandi... ORPHA:440713
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells... OMIM:619381
Brucellosis
Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In... ORPHA:1304
Leprechaunism
Long foot, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Hypertrop... ORPHA:508
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Mucopolysaccharidosis Type 2
Hepatomegaly, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Splenomegaly, Peripheral ... ORPHA:580
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Hyperoxaluria, Primary, Type I
Intermittent claudication, Raynaud phenomenon, Peripheral arterial stenosis, Atrioventricular blo... OMIM:259900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Fibular hypoplas... ORPHA:444077
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Anemia, Decreased circulating I... OMIM:620040
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Sitosterolemia 1
Carotid artery stenosis, Splenomegaly, Coronary artery atherosclerosis OMIM:210250
Apolipoprotein A-I Deficiency
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:425
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Arteriovenous fistulas of celiac... ORPHA:286
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci... ORPHA:449395
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glycosuria, Failure to thrive, Post... OMIM:227810
Bloom Syndrome
Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-positive T ce... ORPHA:125
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:256040
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Coccidioidomycosis
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s... ORPHA:228123
Tangier Disease
Carotid artery stenosis, Coronary artery stenosis, Hepatosplenomegaly, Accelerated atherosclerosis ORPHA:31150
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypertension, Hypertrophic cardiomyopathy, Failure to thrive, M... OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hypertrophic car... OMIM:124000
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased circulating interleukin 6 concentration, Increased B cell count, Leukocytosis, ... OMIM:620376
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Ankle clonus OMIM:620423
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Neu... ORPHA:99827
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve... ORPHA:79078
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
Cerebrotendinous Xanthomatosis
Pes cavus, Abnormal femur morphology, Abnormal tibia morphology, Cholelithiasis, Premature corona... ORPHA:909
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Impaired fasting glucose, Abnormality of the endocrine system, H... ORPHA:110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Abnormal circulating calcium-phosphate regulating hormone concent... ORPHA:2636
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Hypertension, Missing ribs, Bifi... ORPHA:2769
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Clinodactyly of the 5th finger, Glucose intolerance, Stroke, Hyper... OMIM:194050
Cockayne Syndrome Type 3
Hepatomegaly, Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Coronary artery atherosclerosis, Spleno... ORPHA:77293
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Viss Syndrome
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, 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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