ORPHA:96253
Cushing disease
Synonyms: Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma · Pituitary-dependent Cushing syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cushing disease | Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma · Pituitary-dependent Cushing syndrome |
| fr | Maladie de Cushing | Adénome corticotrope hypophysaire · Syndrome de Cushing dépendant de l'ACTH hypophysaire |
| de | Cushing-Krankheit | Cushing-Syndrom, hypophysäres · Hypophysenadenom, kortikotropes · Mikroadenom, hypophysäres kortikotropes |
| es | Enfermedad de Cushing | Adenoma hipofisario corticotropo · Micro-adenoma corticotropo hipofisario · Sindrome de Cushing hipofisario dependiente |
| it | Malattia di Cushing | Adenoma corticotropo ipofisario · Micro-adenoma corticotropo ipofisario · Sindrome di Cushing dipendente dall'ipofisi |
| nl | Ziekte van Cushing | Corticotroop hypofyseadenoom · Hypofysair corticotroop microadenoom · Hypofyseafhankelijk syndroom van Cushing |
| pt | Doença Cushing | |
| pl | Choroba Cushinga | Kortykotropowy gruczolak przysadki · Kortykotropowy mikrogruczolak przysadki · Zespół Cushinga zależny od przysadki |
| cs | Cushingova choroba | Kortikotropní adenom hypofýzy · Kortikotropní mikroadenom hypofýzy · Cushingův syndrom závislý na hypofýze · Centrální Cushingův syndrom |
| uk | Хвороба Кушинга | Кортикотрофна аденома гіпофіза · Кортикотрофна мікроаденома гіпофіза · Гіпофізарно-залежний синдром Кушинга |
| zh | 库欣病 | 垂体依赖性库欣综合征 |
| tr | Cushing hastalığı | Kortikotrof hipofiz adenomu · Hipofiz kortikotrof mikro-adenom · Hipofiz-bağımlı Cushing sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219090 | E | validated | |
| ICD-10 | D35.2 | NTBT | attributed | validated |
| ICD-10 | E24.0 | E | specific | validated |
| ICD-11 | 5A70.0 | E | specific | validated |
| MONDO | 0009050 | E | validated | |
| MONDO | 9050 | E | validated | |
| MeSH | D047748 | E | validated | |
| UMLS | C0221406 | E | validated | |
| GARD | 12867 | E | validated | |
| MedDRA | 10035109 | 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 (3):
- ORPHA:99892ACTH-dependent Cushing syndrome
rare endocrine diseases; rare infertility disorders - ORPHA:314753Functioning pituitary adenoma
rare endocrine diseases; rare neoplastic diseases - ORPHA:715120Hyperpituitarism
rare endocrine diseases
No children.
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Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATRX | Disease-causing somatic mutation(s) in | Assessed | HGNC:886 | ENSG00000085224 | 300032 | Xq21.1 | ATRX chromatin remodeler | 33106857[PMID] |
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 30093687[PMID] |
| NR3C1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7978 | ENSG00000113580 | 138040 | 5q31.3 | nuclear receptor subfamily 3 group C member 1 | 34427636[PMID] |
| TP53 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 35596671[PMID]_33221858[PMID] |
| USP48 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18533 | ENSG00000090686 | 617445 | 1p36.12 | ubiquitin specific peptidase 48 | 30093687[PMID] |
| USP8 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12631 | ENSG00000138592 | 603158 | 15q21.2 | ubiquitin specific peptidase 8 | 25485838[PMID] |
| CDH23 | Major susceptibility factor in | Assessed | HGNC:13733 | ENSG00000107736 | 605516 | 10q22.1 | cadherin related 23 | 28413019[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Not yet validated | 22710101[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
64 annotations · validated 2021-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003118 | Increased circulating cortisol level | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| HP:0008291 | Pituitary corticotropic cell adenoma | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001061 | Acne | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0000141 | Amenorrhea | |
| HP:0000708 | Atypical behavior | |
| HP:0000978 | Bruising susceptibility | |
| HP:0025017 | Capillary fragility | |
| HP:0031891 | Decreased eosinophil count | |
| HP:0000819 | Diabetes mellitus | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0000712 | Emotional lability | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0001007 | Hirsutism | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000822 | Hypertension | |
| HP:0002721 | Immunodeficiency | |
| HP:0040270 | Impaired glucose tolerance | |
| HP:0004324 | Increased body weight | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0010284 | Intra-oral hyperpigmentation | |
| HP:0001888 | Lymphopenia | |
| HP:0500011 | Moon facies | |
| HP:0001324 | Muscle weakness | |
| HP:0000939 | Osteoporosis | |
| HP:0001050 | Plethora | |
| HP:0001058 | Poor wound healing | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0001065 | Striae distensae | |
| HP:0000963 | Thin skin | |
| HP:0001956 | Truncal obesity | |
| Occasional (29-5%) | ||
| HP:0031845 | Abnormal libido | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000716 | Depression | |
| HP:0031364 | Ecchymosis | |
| HP:0031284 | Flushing | |
| HP:0002315 | Headache | |
| HP:0002690 | Large sella turcica | |
| HP:0033505 | Livedo reticularis | |
| HP:0002354 | Memory impairment | |
| HP:0001658 | Myocardial infarction | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000725 | Psychotic episodes | |
| HP:0000979 | Purpura | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0200042 | Skin ulcer | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001297 | Stroke | |
| HP:0031589 | Suicidal ideation | |
| HP:0002953 | Vertebral compression fracture | |
| Very rare (<4-1%) | ||
| HP:0010885 | Avascular necrosis | |
| HP:0000726 | Dementia | |
| HP:0007807 | Optic nerve compression | |
| HP:0025269 | Panic attack | |
| HP:0011999 | Paranoia | |
| HP:0010741 | Pedal edema | |
| HP:0000709 | Psychosis | |
| HP:0001123 | Visual field defect | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 27104844[PMID]_27974908[PMID]_33329407[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96253
- This record as JSON: /data/d/96253.json