Generalized glucocorticoid resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized glucocorticoid resistance syndrome | |
| fr | Syndrome de résistance généralisée aux glucocorticoïdes | |
| de | Glukokortikoid-Resistenz, generalisierte | |
| es | Síndrome de resistencia generalizada a glucocorticoides | |
| it | Sindrome da resistenza generalizzata ai glucocorticoidi | |
| nl | Gegeneraliseerde glucocorticoïdresistentie-syndroom | |
| pt | Síndrome de resistência a glucocorticóides generalizada | |
| pl | Niewrażliwość na glikokortykosteroidy | |
| cs | Rezistence ke glukokortikoidům | |
| uk | Синдром генералізованої глюкокортикоїдної резистентності | |
| zh | 全身性糖皮质激素抵抗综合征 | |
| tr | Jeneralize glukokortikoid direnç sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615962 | E | validated | |
| ICD-10 | E25.8 | NTBT | attributed | validated |
| ICD-11 | 5A71.00 | E | specific | validated |
| UMLS | C5231034 | E | validated | |
| GARD | 2499 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:181412Adrenogenital syndrome
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR3C1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7978 | ENSG00000113580 | 138040 | 5q31.3 | nuclear receptor subfamily 3 group C member 1 | 23076843[PMID]_19933394[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 23392096[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.
HPO phenotypes
21 annotations · validated 2016-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0012378 | Fatigue | |
| HP:0001007 | Hirsutism | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0012030 | Increased urinary cortisol level | |
| Frequent (79-30%) | ||
| HP:0030087 | Abnormal testosterone level | |
| HP:0001061 | Acne | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| HP:0200114 | Metabolic alkalosis | |
| HP:0000876 | Oligomenorrhea | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0002292 | Frontal balding | |
| HP:0001943 | Hypoglycemia | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0000789 | Infertility | |
| HP:0000798 | Oligozoospermia | |
| HP:0000826 | Precocious puberty | |
| Very rare (<4-1%) | ||
| HP:0001297 | Stroke | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 6282933[PMID]_3771797[PMID]_24483153[PMID]_8239231[PMID]_18319312[PMID]_11932321[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/786
- This record as JSON: /data/d/786.json