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Ontology Browser

Term:
aromatase excess syndrome (DOID:0090122)
Annotations: Rat: (1) Mouse: (1) Human: (5) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
46 XX gonadal dysgenesis +   
46,XX sex reversal +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (DO)
Aryl Hydrocarbon Hydroxylase Inducibility 
Aspermia 
Asthenozoospermia +   
azoospermia +   
bilirubin metabolic disorder +   
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
cerebral amyloid angiopathy +   
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
cortisone reductase deficiency +   
Coumarin Sensitivity  
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
Familial Gynecomastia 
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia 
Female Pseudohermaphroditism with Skeletal Anomalies 
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
Hereditary Hyperbilirubinemia +   
hyperandrogenism +   
Hypercalcemia, Infantile, 1  
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
hypoinsulinemic hypoglycemia with hemihypertrophy  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
infant gynecomastia 
infertility due to extratesticular cause 
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Kallikrein, Decreased Urinary Activity of  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Male Sterility due to Y-Chromosome Deletions 
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
maturity-onset diabetes of the young +   
Mayer-Rokitansky-Kuster-Hauser syndrome +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
Michels Caskey Syndrome 
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
oligospermia +   
overhydrated hereditary stomatocytosis  
permanent neonatal diabetes mellitus +   
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
Poor Metabolism of Proguanil  
porphyria +   
progeria +   
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
SEDOHEPTULOKINASE DEFICIENCY  
Sensorineural Deafness and Male Infertility  
sepiapterin reductase deficiency  
Sertoli cell-only syndrome +   
spermatogenic failure +   
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
Teratozoospermia +   
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency  
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
Vasquez Hurst Sotos Syndrome 
Visceral Heterotaxy 9, Autosomal  
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wilson-Turner syndrome  

Synonyms
Exact Synonyms: AEXS ;   aromatase deficiency ;   familial gynecomastia, due to increased aromatase activity ;   familial hyperestrogenism ;   female pseudohermaphroditism due to placental aromatase deficiency ;   hereditary prepubertal gynecomastia ;   increased aromatase activity
Narrow Synonyms: AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY ;   GYNECOMASTIA, HEREDITARY
Primary IDs: MESH:C000591739 ;   MESH:C537436
Alternate IDs: OMIM:139300 ;   OMIM:613546 ;   RDO:0003277 ;   RDO:0015995
Xrefs: GARD:12949 ;   ICD10CM:E30.1 ;   ORDO:178345
Definition Sources: https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome "DO", https://www.omim.org/entry/139300 "DO"

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