{"Name":"Estrogen resistance syndrome","DiseaseID__c":"GARD:0016548","id":16548,"encodedName":"estrogen-resistance-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Estrogen resistance syndrome","Xref_IDs__c":"724555000; C3809250; MEDGEN:815580; MONDO:0014148; OMIM:615363; ORPHA:785","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014148","Disease_Description__c":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.","GARD_Name__c":"Estrogen resistance syndrome","GARD_Synonym__c":"estrogen insensitivity; estrogen resistance","Curated_Disease_Description_Source__c":"MONDO:0014148","Curated_Disease_Description__c":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:785","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014148","ORPHANET_ID__c":"ORPHA:785","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de resistencia a estrógenos","Spanish_Description_Source__c":"ORPHA:785","Spanish_Description__c":"El síndrome de resistencia a los estrógenos es una enfermedad endocrina genética poco frecuente caracterizada por la insensibilidad del receptor de estrógenos a los estrógenos y la presencia de niveles séricos elevados de estrógenos y gonadotropinas. Las manifestaciones clínicas incluyen ausencia de desarrollo mamario y amenorrea primaria en asociación con ovarios poliquísticos y/o útero hipoplásico en mujeres, desarrollo gonadal normal o anormal en varones y maduración ósea marcadamente tardía, persistencia de epífisis abiertas, densidad mineral ósea reducida y estatura alta variable en ambos sexos. También puede asociarse a intolerancia a la glucosa, hiperinsulinemia y anomalías lipídicas.","Spanish_Disease_Name__c":"síndrome de resistencia a estrógenos","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.","Curated_Disease_Description_Source__c":"MONDO:0014148","GARD_Synonym__c":"estrogen insensitivity; estrogen resistance","Name":"Estrogen resistance syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:785"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809250","Source__c":"C3809250","Xref__c":"C3809250"},{"URL__c":"https://www.omim.org/entry/615363","Source__c":"C3809250; MONDO:0014148; ORPHA:785","Xref__c":"OMIM:615363"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724555000","Source__c":"MONDO:0014148","Xref__c":"724555000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815580","Source__c":"C3809250","Xref__c":"MEDGEN:815580"},{"URL__c":"https://www.orpha.net/en/disease/detail/785","Source__c":"C3809250; MONDO:0014148","Xref__c":"ORPHA:785"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014148","Source__c":"GARD:0016548","Xref__c":"MONDO:0014148"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ESR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003799","HPO_Synonym__c":"Marked delay in bone age; Marked retardation in skeletal maturation; Markedly retarded bone age","HPO_Name__c":"Marked delay in bone age","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008675","HPO_Synonym__c":"Enlarged ovaries with cysts","HPO_Name__c":"Enlarged polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001548","HPO_Synonym__c":"General overgrowth","HPO_Name__c":"Overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001952","HPO_Synonym__c":"Glucose intolerance","HPO_Name__c":"Glucose intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of a hormone in the blood circulation outside of normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003117","HPO_Synonym__c":"Abnormal circulating hormone level; Abnormality of circulating hormone level","HPO_Name__c":"Abnormal circulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100133","HPO_Synonym__c":"Abnormality of the pubic hair","HPO_Name__c":"Abnormality of the pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008197","HPO_Name__c":"Absence of pubertal development","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"No secondary sexual characteristics are present at puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008187","HPO_Synonym__c":"No secondary sexual characteristics at puberty","HPO_Name__c":"Absence of secondary sex characteristics","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An anomalous concentration of testosterone in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030087","HPO_Synonym__c":"Abnormal serum testosterone level","HPO_Name__c":"Abnormal circulating testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003187","HPO_Synonym__c":"Underdeveloped breasts","HPO_Name__c":"Breast hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000834","HPO_Synonym__c":"Adrenal abnormalities","HPO_Name__c":"Abnormality of the adrenal glands","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010679","HPO_Synonym__c":"Elevated alkaline phosphatase, liver/bone/kidney; Elevated tissue non-specific ALP","HPO_Name__c":"Elevated tissue non-specific alkaline phosphatase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:785","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000013","HPO_Synonym__c":"Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus","HPO_Name__c":"Hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Pediatrics"],"Account":["Infertility"]},"synonyms":["estrogen insensitivity"," estrogen resistance"]}