ORPHA:189427
Cushing syndrome due to bilateral macronodular adrenocortical disease
Synonyms: CS due to BMACD · CS due to BMAD · Cushing syndrome due to BMACD · Cushing syndrome due to BMAD · Cushing syndrome due to macronodular adrenal hyperplasia · Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cushing syndrome due to bilateral macronodular adrenocortical disease | CS due to BMACD · CS due to BMAD · Cushing syndrome due to BMACD · Cushing syndrome due to BMAD · Cushing syndrome due to macronodular adrenal hyperplasia · Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia |
| fr | Syndrome de Cushing dû à une maladie macronodulaire bilatérale des surrénales | Syndrome de Cushing dû à une hyperplasie macronodulaire bilatérale des surrénales · Syndrome de Cushing dû à une hyperplasie macronodulaire des surrénales |
| de | Cushing-Syndrom durch bilaterale makronoduläre Nebennierenhyperplasie | CS durch BMACD · CS durch BMAD · Cushing-Syndrom bei primärer bilateraler makronodulärer Nebennierenhyperplasie · Cushing-Syndrom durch makronoduläre Nebennierenhyperplasie · Nebennierenhyperplasie, bilaterale makronoduläre primäre |
| es | Síndrome de Cushing por enfermedad corticosuprarrenal macronodular bilateral | SC por BMACD · SC por BMAD · Síndrome de Cushing por BMACD · Síndrome de Cushing por BMAD · Síndrome de Cushing por hiperplasia corticosuprarrenal macronodular · Síndrome de Cushing por hiperplasia primaria corticosuprarrenal macronodular bilateral |
| it | Sindrome di Cushing da malattia adrenocorticale macronodulare bilaterale | SC da BMACD · SC da BMAD · Sindrome di Cushing da BMACD · Sindrome di Cushing da BMAD · Sindrome di Cushing da iperplasia macronodulare dei surreni · Sindrome di Cushing da iperplasia primitiva macronodulare bilaterale del surrene · Sindrome di Cushing da iperplasia surrenalica macronodulare · Sindrome di Cushing da iperplasia surrenalica macronodulare bilaterale primitiva |
| nl | Syndroom van Cushing door bilaterale macronodulaire adrenocorticale ziekte | CS door BMACD · CS door BMAD · Syndroom van Cushing door BMACD · Syndroom van Cushing door BMAD · Syndroom van Cushing door macronodulaire adrenale hyperplasie · Syndroom van Cushing door primaire bilaterale macronodulaire bijnierhyperplasie |
| pt | Síndrome Cushing por doença adrenocortical macronodular bilateral | CS por BMAD · Síndrome Cushing por BMACD · Síndrome Cushing por BMAD · Síndrome Cushing por hiperplasia supra-renal macronodular · Síndrome Cushing por hiperplasia supra-renal macronodular bilateral primária |
| pl | Zespół Cushinga spowodowany wielkoguzkowym przerostem nadnerczy | Pierwotny obustronny wielkoguzkowy przerost nadnerczy · Zespół Cushinga z powodu obustronnej wielkoguzkowej choroby kory nadnerczy |
| cs | Cushingův syndrom způsobený makronodulární adrenální hyperplázií | Primární oboustranná makronodulární adrenální hyperplázie |
| uk | Синдром Кушинга внаслідок двосторонньої макронодулярної адренокортикальної хвороби | СК через BMACD · СК завдяки BMAD · Синдром Кушинга, спричинений BMACD · Синдром Кушинга внаслідок BMAD · Синдром Кушинга внаслідок макронодулярної гіперплазії надниркових залоз · Синдром Кушинга внаслідок первинної двобічної макронодулярної гіперплазії надниркових залоз |
| zh | 大结节性肾上腺增生所致库欣综合征 | 原发性双侧大结节性肾上腺增生 |
| tr | Makronodüler adrenal hiperplaziye bağlı Cushing sendromu | Primer bilateral makronodüler adrenal hiperplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219080 | BTNT | validated | |
| OMIM | 615830 | BTNT | validated | |
| OMIM | 615954 | BTNT | validated | |
| ICD-10 | E24.8 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | index | validated |
| MONDO | 0009049 | E | validated | |
| MONDO | 9049 | E | validated | |
| UMLS | C2062388 | E | validated | |
| GARD | 10824 | 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 (4):
- ORPHA:647758Adrenal Cushing syndrome
rare endocrine diseases - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases - ORPHA:399584Rare male infertility due to adrenal disorder
rare infertility disorders - ORPHA:399994Rare male infertility due to adrenal disorder of genetic origin
rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARMC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:25781 | ENSG00000140691 | 615549 | 16p11.2 | armadillo repeat containing 5 | 24283224[PMID] |
| GNAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 12727968[PMID] |
| KDM1A | Modifying germline mutation in | Assessed | HGNC:29079 | ENSG00000004487 | 609132 | 1p36.12 | lysine demethylase 1A | 34906447[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
39 annotations · validated 2021-10-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008231 | Macronodular adrenal hyperplasia | |
| Very frequent (99-80%) | ||
| HP:0002920 | Decreased circulating ACTH level | |
| HP:0500011 | Moon facies | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0031845 | Abnormal libido | |
| HP:0031077 | Abnormal response to corticotropin releasing hormone stimulation test | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000716 | Depression | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0000712 | Emotional lability | |
| HP:0001952 | Glucose intolerance | |
| HP:0001007 | Hirsutism | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000822 | Hypertension | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0000858 | Irregular menstruation | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000939 | Osteoporosis | |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| HP:0001050 | Plethora | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0001065 | Striae distensae | |
| Occasional (29-5%) | ||
| HP:0001061 | Acne | |
| HP:0001596 | Alopecia | |
| HP:0001397 | Hepatic steatosis | |
| HP:0004324 | Increased body weight | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0100754 | Mania | |
| HP:0002354 | Memory impairment | |
| HP:0000725 | Psychotic episodes | |
| Very rare (<4-1%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0002858 | Meningioma | |
| HP:0100634 | Neuroendocrine neoplasm | |
| HP:0002893 | Pituitary adenoma | |
| HP:0008200 | Primary hyperparathyroidism | |
| HP:0005584 | Renal cell carcinoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32053747[PMID]_25945066[PMID]_32115357[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/189427
- This record as JSON: /data/d/189427.json