McCune-Albright syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PFD, INCLUDED
ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED
POFD, INCLUDED
MAS
Gonadotropin-independent female-limited sexual precocity
Number of Symptoms 47
OrphanetNr: 562
OMIM Id: 174800
ICD-10: Q78.1
UMLs: C0242292
MeSH: D005359
MedDRA:
Snomed: 36517007

Prevalence, inheritance and age of onset:

Prevalence: 0.55 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease
Peripheral precocious puberty
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Precocious puberty
 -Rare endocrine disease
 -Rare gynecologic or obstetric disease
Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with Cushing syndrome as a major feature
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
(HPO:0010788) Testicular neoplasm Occasional [Orphanet] 10 / 7739
2
(HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
3
(HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
4
(HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
5
(HPO:0004493) Craniofacial hyperostosis 5 / 7739
6
(HPO:0000324) Facial asymmetry 57 / 7739
7
(HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
8
(HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
9
(HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
10
(HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
11
(HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
12
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
13
(HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
14
(HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
15
(HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
16
(HPO:0000618) Blindness 124 / 7739
17
(HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
18
(HPO:0000365) Hearing impairment 539 / 7739
19
(HPO:0100013) Neoplasm of the breast Occasional [Orphanet] 18 / 7739
20
(HPO:0008221) Adrenal hyperplasia Occasional [Orphanet] 24 / 7739
21
(HPO:0000826) Precocious puberty Very frequent [Orphanet] 42 / 7739
22
(HPO:0000870) Prolactin excess 10 / 7739
23
(HPO:0001578) Hypercortisolism Occasional [Orphanet] 17 / 7739
24
(HPO:0000843) Hyperparathyroidism Occasional [Orphanet] 17 / 7739
25
(HPO:0100031) Neoplasm of the thyroid gland Occasional [Orphanet] 15 / 7739
26
(HPO:0000845) Growth hormone excess 18 / 7739
27
(HPO:0000853) Goiter Occasional [Orphanet] 39 / 7739
28
(HPO:0002893) Pituitary adenoma 16 / 7739
29
(HPO:0000836) Hyperthyroidism Occasional [Orphanet] 25 / 7739
30
(HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
31
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
32
(HPO:0010735) Polyostotic fibrous dysplasia 3 / 7739
33
(HPO:0002756) Pathologic fracture 30 / 7739
34
(HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
35
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
36
(HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
37
(HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
38
(HPO:0200008) Intestinal polyposis 23 / 7739
39
(HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
40
(HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
41
(HPO:0000957) Cafe-au-lait spot Very frequent [Orphanet] 84 / 7739
42
(HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
43
(HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
44
(HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
45
(OMIM) Large cafe au lait spots with irregular margins 3 / 7739
46
(OMIM) Cranial foramen impingement 3 / 7739
47
(HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells ...
Clinical Description OMIM This disorder is called McCune-Albright syndrome or simply Albright syndrome, but should not be confused with pseudohypoparathyroidism (103580), which includes a constellation of features termed Albright hereditary osteodystrophy (AHO). The predominant features of MAS occur in 3 areas: ...
Molecular genetics OMIM The mystery of the etiology and pathogenesis of polyostotic fibrous dysplasia appears to have been solved by the identification of activating mutations in the GNAS1 gene (139320) which render the gene functionally constitutive (Weinstein et al., 1991; Schwindinger ...