Fibrous dysplasia of bone

General Information (adopted from Orphanet):

Synonyms, Signs: PFD, INCLUDED
ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED
POFD, INCLUDED
MAS
Osteofibrous dysplasia
Number of Symptoms 19
OrphanetNr: 249
OMIM Id: 174800
ICD-10: Q78.1
UMLs:
MeSH: D005357
MedDRA: 10016664
Snomed: 10623005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000324) Facial asymmetry 57 / 7739
2
(HPO:0004493) Craniofacial hyperostosis 5 / 7739
3
(HPO:0000618) Blindness 124 / 7739
4
(HPO:0000365) Hearing impairment 539 / 7739
5
(HPO:0001578) Hypercortisolism 17 / 7739
6
(HPO:0002893) Pituitary adenoma 16 / 7739
7
(HPO:0000845) Growth hormone excess 18 / 7739
8
(HPO:0000826) Precocious puberty 42 / 7739
9
(HPO:0000836) Hyperthyroidism 25 / 7739
10
(HPO:0000870) Prolactin excess 10 / 7739
11
(HPO:0000843) Hyperparathyroidism 17 / 7739
12
(HPO:0010735) Polyostotic fibrous dysplasia 3 / 7739
13
(HPO:0002756) Pathologic fracture 30 / 7739
14
(HPO:0200008) Intestinal polyposis 23 / 7739
15
(HPO:0005605) Large cafe-au-lait macules with irregular margins 1 / 7739
16
(HPO:0001442) Somatic mosaicism 7 / 7739
17
(OMIM) Cranial foramen impingement 3 / 7739
18
(OMIM) Large cafe au lait spots with irregular margins 3 / 7739
19
(HPO:0003812) Phenotypic variability 129 / 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 ...