eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aromatase deficiency | ||||
| Disease ID | 904 |
|---|---|
| Disease | aromatase deficiency |
| Definition | Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase,[1] which can result in inappropriate virilization of female fetuses and delayed puberty, as well as inappropriate virilization of the mother during pregnancy. - Wikipedia Reference: https://en.wikipedia.org/wiki/aromatase deficiency |
| Synonym | maternal virilisation due to placental aromatase deficiency maternal virilization due to placental aromatase deficiency maternal virilization due to placental aromatase deficiency (disorder) pseudohermaphroditism, female, due to placental aromatase deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C1960539 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CYP19A1 | 15q21.2 |
| Disease ID | 904 |
|---|---|
| Disease | aromatase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000028 | Cryptorchidism HP:0002050 | Macroorchidism, postpubertal HP:0000786 | Primary amenorrhea HP:0000815 | Hypergonadotropic hypogonadism HP:0002653 | Bone pain HP:0002663 | Delayed epiphyseal ossification HP:0008222 | Female infertility HP:0008072 | Maternal virilization in pregnancy HP:0000098 | Tall stature HP:0000855 | Insulin resistance HP:0001510 | Growth delay HP:0005978 | Type II diabetes mellitus HP:0000938 | Osteopenia HP:0003077 | Hyperlipidemia HP:0000939 | Osteoporosis HP:0000061 | Ambiguous genitalia, female HP:0003251 | Male infertility HP:0002230 | Generalized hirsutism HP:0001397 | Hepatic steatosis HP:0002857 | Genu valgum HP:0008675 | Enlarged polycystic ovaries HP:0003782 | Eunuchoid habitus HP:0010458 | Female pseudohermaphroditism HP:0001513 | Obesity HP:0002750 | Delayed skeletal maturation HP:0000956 | Acanthosis nigricans |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 904 |
|---|---|
| Disease | aromatase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0796110 | w syndrome |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000061 | Ambiguous genitalia, female | MP:0001926 | female infertility | inability of female to produce live offspring |
| HP:0003251 | Male infertility | MP:0001924 | infertility | inability to produce live offspring |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0008222 | Female infertility | MP:0001926 | female infertility | inability of female to produce live offspring |
| HP:0002663 | Delayed epiphyseal ossification | MP:0008271 | abnormal bone ossification | any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003077 | Hyperlipidemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000098 | Tall stature | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0008222 | Female infertility | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0003782 | Eunuchoid habitus | 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 |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000028 | Cryptorchidism | 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:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003251 | Male infertility | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002663 | Delayed epiphyseal ossification | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010458 | Female pseudohermaphroditism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002050 | Macroorchidism, postpubertal | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0000061 | Ambiguous genitalia, female | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000815 | Hypergonadotropic hypogonadism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008072 | Maternal virilization in pregnancy | MP:0012531 | delayed limb development | late onset of the induction and/or differentiation of the limbs |
| Disease ID | 904 |
|---|---|
| Disease | aromatase deficiency |
| Case | (Waiting for update.) |