MCID: MZB001
MIFTS: 20

Mazabraud Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mazabraud Syndrome

MalaCards integrated aliases for Mazabraud Syndrome:

Name: Mazabraud Syndrome 59
Fibrous Dysplasia of Bone with Intramuscular Myxoma 73
Myxoma with Fibrous Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
mazabraud syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA57782
ICD10 via Orphanet 34 M85.0
UMLS 73 C3697137

Summaries for Mazabraud Syndrome

MalaCards based summary : Mazabraud Syndrome, also known as fibrous dysplasia of bone with intramuscular myxoma, is related to mccune-albright syndrome and fibrous dysplasia. An important gene associated with Mazabraud Syndrome is GNAS (GNAS Complex Locus). Affiliated tissues include bone, and related phenotypes are skeletal dysplasia and bone pain

Related Diseases for Mazabraud Syndrome

Diseases related to Mazabraud Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mccune-albright syndrome 10.1
2 fibrous dysplasia 10.0

Symptoms & Phenotypes for Mazabraud Syndrome

Human phenotypes related to Mazabraud Syndrome:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
2 bone pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002653
3 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
4 fibrous dysplasia of the bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0010734
5 abnormality of the skeletal system 59 Occasional (29-5%)

Drugs & Therapeutics for Mazabraud Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry Recruiting NCT03231644

Search NIH Clinical Center for Mazabraud Syndrome

Genetic Tests for Mazabraud Syndrome

Anatomical Context for Mazabraud Syndrome

MalaCards organs/tissues related to Mazabraud Syndrome:

41
Bone

Publications for Mazabraud Syndrome

Articles related to Mazabraud Syndrome:

(show all 17)
# Title Authors Year
1
Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. ( 28258512 )
2017
2
Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. ( 28845837 )
2017
3
Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud syndrome. ( 26288523 )
2015
4
An atypical monomelic presentation of Mazabraud syndrome. ( 25143651 )
2014
5
Skeletal and soft tissue involvement in Mazabraud syndrome. ( 23690310 )
2013
6
Mazabraud syndrome. ( 23961498 )
2013
7
Mazabraud syndrome. ( 22893885 )
2012
8
Mazabraud's syndrome, an uncommon association of intramuscular myxoma with fibrous dysplasia. ( 22935685 )
2012
9
Mazabraud syndrome associated with McCune-Albright syndrome. ( 21264480 )
2011
10
Best cases from the AFIP: Atypical presentation of polyostotic fibrous dysplasia with myxoma (Mazabraud syndrome). ( 20462996 )
2010
11
Osteosarcoma of the proximal part of the radius in Mazabraud syndrome. A case report. ( 19339582 )
2009
12
Mazabraud syndrome. ( 18661708 )
2008
13
Correlative imaging in an atypical case of Mazabraud syndrome. ( 18029849 )
2007
14
F-18 fluorodeoxyglucose positron emission tomography finding of Mazabraud syndrome. ( 16985371 )
2006
15
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. ( 11241472 )
2001
16
Diagnosis please. Case 12: Mazabraud syndrome. ( 10405731 )
1999
17
The Mazabraud syndrome: case report and review of the literature. ( 3319954 )
1987

Variations for Mazabraud Syndrome

Expression for Mazabraud Syndrome

Search GEO for disease gene expression data for Mazabraud Syndrome.

Pathways for Mazabraud Syndrome

GO Terms for Mazabraud Syndrome

Sources for Mazabraud Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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