{"Name":"Aromatase excess syndrome","DiseaseID__c":"GARD:0012494","id":12494,"encodedName":"aromatase-excess-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Aromatase excess syndrome","Xref_IDs__c":"709075008; C000591739; C1970109; DOID:0090122; MEDGEN:409989; MONDO:0007690; OMIM:139300; ORPHA:178345","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007690","Disease_Description__c":"A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.","GARD_Name__c":"Aromatase excess syndrome","GARD_Synonym__c":"aexs; aromatase activity, increased; familial gynecomastia, due to increased aromatase activity; familial hyperestrogenism; gynecomastia, familial, due to increased aromatase activity; gynecomastia, hereditary; hereditary prepubertal gynecomastia; increased aromatase activity","Curated_Disease_Description_Source__c":"MONDO:0007690","Curated_Disease_Description__c":"Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:178345","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007690","ORPHANET_ID__c":"ORPHA:178345","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de exceso de aromatasa","Spanish_Description_Source__c":"ORPHA:178345","Spanish_Description__c":"Es una enfermedad endocrina genética poco frecuente caracterizada por niveles elevados de estrógenos debido a la elevada actividad de la aromatasa extraglandular. Los varones presentan una pubertad heterosexual precoz que se manifiesta con ginecomastia de inicio pre- o peripuberal, brotes de crecimiento prematuro, maduración ósea acelerada que resulta en talla adulta baja y, ocasionalmente, hipogonadismo hipogonadotrópico leve. Los individuos de sexo femenino pueden experimentar pubertad precoz isosexual o no tener ninguna manifestación.","Spanish_Disease_Name__c":"síndrome de exceso de aromatasa","Spanish_GARD_Synonym__c":"aexs; ginecomastia prepuberal hereditaria; hiperestrogenismo familiar","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":"Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.","Curated_Disease_Description_Source__c":"MONDO:0007690","GARD_Synonym__c":"aexs; aromatase activity, increased; familial gynecomastia, due to increased aromatase activity; familial hyperestrogenism; gynecomastia, familial, due to increased aromatase activity; gynecomastia, hereditary; hereditary prepubertal gynecomastia; increased aromatase activity","Name":"Aromatase excess 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:178345"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:178345"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1970109"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012494","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/139300","Source__c":"C1970109; MONDO:0007690; ORPHA:178345","Xref__c":"OMIM:139300"},{"URL__c":"https://www.orpha.net/en/disease/detail/178345","Source__c":"C1970109; MONDO:0007690; ORPHA:178345","Xref__c":"ORPHA:178345"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709075008","Source__c":"C1970109; MONDO:0007690","Xref__c":"709075008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970109","Source__c":"C1970109","Xref__c":"C1970109"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090122","Source__c":"MONDO:0007690","Xref__c":"DOID:0090122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=409989","Source__c":"C1970109","Xref__c":"MEDGEN:409989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000591739","Source__c":"MONDO:0007690","Xref__c":"C000591739"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007690","Source__c":"GARD:0012494","Xref__c":"MONDO:0007690"},{"URL__c":"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome","Source__c":"GARD:0012494","Xref__c":"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP19A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp19a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001620","HPO_Synonym__c":"High pitched voice; High-pitched voice","HPO_Name__c":"Abnormally high-pitched voice","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation above normal limits of the concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025134","HPO_Synonym__c":"Increased estradiol level; Increased serum oestradiol","HPO_Name__c":"Increased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Premature development of the breasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010314","HPO_Synonym__c":"Premature breast development","HPO_Name__c":"Premature thelarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced number or density of facial hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007464","HPO_Synonym__c":"Sparse facial hair","HPO_Name__c":"Sparse facial hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100878","HPO_Synonym__c":"Enlarged uterus","HPO_Name__c":"Enlarged uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003502","HPO_Synonym__c":"short stature, mild","HPO_Name__c":"Mild short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of the circulating level of follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030341","HPO_Synonym__c":"Decreased circulating follicle stimulating hormone level","HPO_Name__c":"Decreased circulating follicle stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The onset of puberty before the age of 8 years in girls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010465","HPO_Name__c":"Precocious puberty in females","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation above normal limits of the concentration of estrone in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025139","HPO_Name__c":"Increased serum estrone","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of hypertrophy of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010313","HPO_Synonym__c":"Breast enlargement; Breasts enlarged; Gigantomastia; Hypertrophy of the breasts; Large breast; Macromastia","HPO_Name__c":"Breast hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enzyme activity of aromatase above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034699","HPO_Name__c":"Elevated aromatase activity","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Pediatrics"]},"synonyms":["aexs"," aromatase activity, increased"," familial gynecomastia, due to increased aromatase activity"," familial hyperestrogenism"," gynecomastia, familial, due to increased aromatase activity"," gynecomastia, hereditary"," hereditary prepubertal gynecomastia"," increased aromatase activity"]}