eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aromatase excess syndrome | ||||
| Disease ID | 1000 |
|---|---|
| Disease | aromatase excess syndrome |
| Definition | Aromatase excess syndrome (AES or AEXS), also sometimes referred to as familial hyperestrogenism or familial gynecomastia, is a rare genetic and endocrine syndrome which is characterized by an overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism. It affects both sexes, manifesting itself in males as marked or complete phenotypical feminization (with the exception of the genitalia; i.e., no pseudohermaphroditism), in whom it fits the definition of a form of intersex, and in females as hyperfeminization.[1][2][3][4] - Wikipedia Reference: https://en.wikipedia.org/wiki/aromatase excess syndrome |
| Synonym | aexs aromatase activity, increased aromatase excess syndrome (disorder) familial gynecomastia, due to increased aromatase activity gynecomastia, familial, due to increased aromatase activity gynecomastia, hereditary increased aromatase activity |
| Orphanet | |
| OMIM | |
| UMLS | C1970109 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CYP19A1 | 15q21.2 |
| Disease ID | 1000 |
|---|---|
| Disease | aromatase excess syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0005616 | Early bone maturation HP:0004322 | Stature below 3rd percentile HP:0000771 | Gynaecomastia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1000 |
|---|---|
| Disease | aromatase excess syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs144422259 | 24705274 | 1588 | CYP19A1 | umls:C1970109 | BeFree | R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. | 0.206710102 | 2014 | CYP19A1;PIRC66 | 15 | 51222399 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005616 | Accelerated skeletal maturation | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 1000 |
|---|---|
| Disease | aromatase excess syndrome |
| Case | (Waiting for update.) |