ORPHA:562
McCune-Albright syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | McCune-Albright syndrome | |
| fr | Syndrome de McCune-Albright | |
| de | McCune-Albright-Syndrom | |
| es | Síndrome de McCune-Albright | |
| it | Sindrome di McCune-Albright | Pubertà femminile precoce indipendente dalle gonadotropine |
| nl | Syndroom van McCune-Albright | Gonadotropine-onafhankelijke tot vrouwen beperkte seksuele precociteit |
| pt | Síndrome McCune-Albright | Puberdade precoce limitada ao sexo feminino independente da gonadotrofina |
| pl | Zespół McCune i Albrighta | Niezależne od gonadotropin przedwczesne dojrzewanie płciowe kobiet |
| cs | McCuneův-Albrightův syndrom | Gonadotropin independentní předčasná puberta dívek · McCune-Albrightův syndrom |
| uk | Синдром МакКьюна-Олбрайта | Гонадотропін-незалежне жіноче передчасне статеве дозрівання |
| zh | McCune-Albright综合征 | 促性腺激素非依赖性女性性早熟 |
| tr | McCune-Albright sendromu | Gonadotropin-kadından bağımsız-sınırlı cinsel erken gelişmişliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174800 | E | validated | |
| ICD-10 | Q78.1 | NTBT | inclusion | validated |
| ICD-11 | FB80.0 | NTBT | index | validated |
| MONDO | 0018919 | E | validated | |
| UMLS | C0242292 | E | validated | |
| GARD | 6995 | E | validated | |
| MedDRA | 10052032 | 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:595216Fibrous dysplasia/McCune-Albright syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:435564Genetic precocious puberty in female
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases - ORPHA:178040Rare peripheral precocious puberty
rare genetic diseases; rare endocrine diseases - ORPHA:650187Rare peripheral precocious puberty in female
rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 1594625[PMID]_1944469[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.55 / 100 000 | Europe | Value and class | Validated | 18489744[PMID]_[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
53 annotations · validated 2020-03-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031072 | Abnormal endocrine physiology | |
| HP:0005605 | Large cafe-au-lait macules with irregular margins | |
| HP:0000138 | Ovarian cyst | |
| HP:0000826 | Precocious puberty | |
| Frequent (79-30%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002693 | Abnormality of the skull base | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0010734 | Fibrous dysplasia of the bones | |
| HP:0001507 | Growth abnormality | |
| HP:0000836 | Hyperthyroidism | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0000053 | Macroorchidism | |
| HP:0010736 | Monostotic fibrous dysplasia | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0006719 | Benign gastrointestinal tract tumors | |
| HP:0020110 | Bone fracture | |
| HP:0002653 | Bone pain | |
| HP:0000144 | Decreased fertility | |
| HP:0000689 | Dental malocclusion | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000853 | Goiter | |
| HP:0000365 | Hearing impairment | |
| HP:0012028 | Hepatocellular adenoma | |
| HP:0010791 | Hyperplasia of the Leydig cells | |
| HP:0008768 | Inappropriate sexual behavior | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0000858 | Irregular menstruation | |
| HP:0001742 | Nasal congestion | |
| HP:0002749 | Osteomalacia | |
| HP:0001733 | Pancreatitis | |
| HP:0003401 | Paresthesia | |
| HP:0010735 | Polyostotic fibrous dysplasia | |
| HP:0002757 | Recurrent fractures | |
| HP:0000117 | Renal phosphate wasting | |
| Very rare (<4-1%) | ||
| HP:0012063 | Aneurysmal bone cyst | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0003002 | Breast carcinoma | |
| HP:0001396 | Cholestasis | |
| HP:0030428 | Cutaneous myxoma | |
| HP:0012115 | Hepatitis | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0001876 | Pancytopenia | |
| HP:0001579 | Primary hypercortisolism | |
| HP:0000572 | Visual loss | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26209174[PMID]_25719192[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562
- This record as JSON: /data/d/562.json