ORPHA:91
Aromatase deficiency
Synonyms: Congenital estrogen deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aromatase deficiency | Congenital estrogen deficiency |
| fr | Déficit en aromatase | Déficit congénital en oestrogènes |
| de | Aromatase-Mangel | Östrogen-Mangel, kongenitaler |
| es | Deficiencia de aromatasa | Deficiencia de aromatasa placentaria y fetal |
| it | Deficit di aromatasi | Deficit congenito di estrogeni |
| nl | Aromatasedeficiëntie | Congenitale oestrogeendeficiëntie |
| pt | Deficiência de aromatase | |
| pl | Niedobór aromatazy | Wrodzony Niedobór estrogenów |
| cs | Deficit aromatázy | Vrozený deficit estrogenu |
| uk | Дефіцит ароматази | Вроджений дефіцит естрогену |
| zh | 芳香化酶缺乏症 | 先天性雌激素缺乏症 |
| tr | Aromataz eksikliği | Doğumsal östrojen eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613546 | E | validated | |
| ICD-10 | E25.8 | NTBT | attributed | validated |
| ICD-11 | 5A9Y | NTBT | index | validated |
| MONDO | 0013301 | E | validated | |
| MeSH | C537436 | E | validated | |
| UMLS | C1960539 | E | validated | |
| GARD | 365 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:32506146,XX difference of sex development induced by fetoplacental androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - ORPHA:399831Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:400011Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:399572Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
rare infertility disorders - ORPHA:399983Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP19A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2594 | ENSG00000137869 | 107910 | 15q21.2 | cytochrome P450 family 19 subfamily A member 1 | 21521281[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 27256151[PMID]_27693882[PMID]_29324451[PMID]_29553041[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27256151[PMID]_27693882[PMID]_29324451[PMID]_29553041[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2016-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0002653 | Bone pain | |
| HP:0000028 | Cryptorchidism | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0003782 | Eunuchoid habitus | |
| HP:0008222 | Female infertility | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0002857 | Genu valgum | |
| HP:0001510 | Growth delay | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0003077 | Hyperlipidemia | |
| HP:0003251 | Male infertility | |
| HP:0008072 | Maternal virilization in pregnancy | |
| HP:0001513 | Obesity | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000855 | Insulin resistance | |
| HP:0002050 | Macroorchidism, postpubertal | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1825497[PMID]_162557[PMID]_8530621[PMID]_1371509[PMID]_14715828[PMID]_130074[PMID]_1825497[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91
- This record as JSON: /data/d/91.json