MCID: MZB001
MIFTS: 19

Mazabraud Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mazabraud Syndrome

MalaCards integrated aliases for Mazabraud Syndrome:

Name: Mazabraud Syndrome 58
Fibrous Dysplasia of Bone with Intramuscular Myxoma 70
Myxoma with Fibrous Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
mazabraud syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 M85.0
Orphanet 58 ORPHA57782
UMLS 70 C3697137

Summaries for Mazabraud Syndrome

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

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 fibrous dysplasia 10.5
2 mccune-albright syndrome 10.3
3 osteogenic sarcoma 10.1
4 goiter 10.1
5 myxoid liposarcoma 10.0
6 liposarcoma 10.0
7 multinodular goiter 10.0
8 fibrous dysplasia/mccune-albright syndrome 10.0
9 precocious puberty 10.0

Graphical network of the top 20 diseases related to Mazabraud Syndrome:



Diseases related to Mazabraud Syndrome

Symptoms & Phenotypes for Mazabraud Syndrome

Human phenotypes related to Mazabraud Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fibrous dysplasia of the bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0010734
2 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
3 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
4 bone pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002653
5 abnormality of the skeletal system 58 Occasional (29-5%)

Drugs & Therapeutics for Mazabraud Syndrome

Search Clinical Trials , NIH Clinical Center for Mazabraud Syndrome

Genetic Tests for Mazabraud Syndrome

Anatomical Context for Mazabraud Syndrome

MalaCards organs/tissues related to Mazabraud Syndrome:

40
Bone

Publications for Mazabraud Syndrome

Articles related to Mazabraud Syndrome:

(show all 37)
# Title Authors PMID Year
1
Multiple paraspinal intramuscular myxomas: case report. 61
31783350 2019
2
Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study. 61
30653046 2019
3
Fibrous dysplasia for radiologists: beyond ground glass bone matrix. 61
30484079 2018
4
[Mazabraud and McCune-Albright syndromes in association : A case of two very rare orthopaedic tumour entities]. 61
28224215 2017
5
Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature. 61
28845837 2017
6
[Differential diagnosis and management of intramuscular myxomas: A review of our experience]. 61
27320646 2017
7
Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. 61
28258512 2017
8
[Craniofacial fibrous dysplasia]. 61
27017329 2016
9
Lumps in the thigh. Mazabraud Syndrome. 61
27038976 2016
10
[MAZABRAUD SYNDROME: A CASE REPORT]. 61
26867303 2015
11
Chondrosarcoma of the femur in Mazabraud's syndrome: A first case study. 61
26498883 2015
12
Mazabraud's syndrome and thyroid cancer, a very rare and confusing association: a case report. 61
26245479 2015
13
Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud syndrome. 61
26288523 2015
14
Infiltrative intramuscular myxoma of the cervical spine: a case report. 61
25264316 2015
15
An atypical monomelic presentation of Mazabraud syndrome. 61
25143651 2014
16
Soft-tissue myxomatous lesions: review of salient imaging features with pathologic comparison. 61
25019435 2014
17
Five polyostotic conditions that general orthopedic surgeons should recognize (or should not miss). 61
24975767 2014
18
[Mazabraud's syndrome, an uncommon association of intramuscular myxoma with fibrous dysplasia]. 61
22935685 2014
19
Skeletal and soft tissue involvement in Mazabraud syndrome. 61
23690310 2013
20
Mazabraud syndrome. 61
23961498 2013
21
[Simple and yet so difficult: common occurrence of fibrous dysplasia and myxomas - the Mazabraud syndrome]. 61
22618472 2012
22
Mazabraud syndrome. 61
22893885 2012
23
[Mazabraud syndrome: report of a case]. 61
21616009 2011
24
[Mazabraud syndrome--benign intramuscular myxoma with fibrous skeletal dysplasia]. 61
21342594 2011
25
Mazabraud syndrome associated with McCune-Albright syndrome. 61
21264480 2011
26
Best cases from the AFIP: Atypical presentation of polyostotic fibrous dysplasia with myxoma (Mazabraud syndrome). 61
20462996 2010
27
[Abnormal expression of c-myc, p53, p16 protein and GNAS1 gene mutation in fibrous dysplasia]. 61
19575869 2009
28
Osteosarcoma of the proximal part of the radius in Mazabraud syndrome. A case report. 61
19339582 2009
29
Mazabraud syndrome. 61
18661708 2008
30
Correlative imaging in an atypical case of Mazabraud syndrome. 61
18029849 2007
31
Management of fibrous dysplasia. A report on 36 cases. 61
17441665 2007
32
F-18 fluorodeoxyglucose positron emission tomography finding of Mazabraud syndrome. 61
16985371 2006
33
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. 61
11241472 2001
34
[Mazabraud syndrome: a case diagnosed with MRI]. 61
11428212 2001
35
Diagnosis please. Case 12: Mazabraud syndrome. 61
10405731 1999
36
Intramuscular myxoma with fibrous dysplasia: a report of two cases with a review of the literature. 61
7742929 1995
37
The Mazabraud syndrome: case report and review of the literature. 61
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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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