MCID: NNN015
MIFTS: 12

Noonan-Like/multiple Giant Cell Lesion Syndrome

Categories: Rare diseases

Aliases & Classifications for Noonan-Like/multiple Giant Cell Lesion Syndrome

MalaCards integrated aliases for Noonan-Like/multiple Giant Cell Lesion Syndrome:

Name: Noonan-Like/multiple Giant Cell Lesion Syndrome 53
Nl/mgcls 53

Classifications:



Summaries for Noonan-Like/multiple Giant Cell Lesion Syndrome

NIH Rare Diseases : 53 Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to be part of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene but no giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.

MalaCards based summary : Noonan-Like/multiple Giant Cell Lesion Syndrome, also known as nl/mgcls, is related to noonan syndrome 1 and pseudo-turner syndrome. An important gene associated with Noonan-Like/multiple Giant Cell Lesion Syndrome is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1). Affiliated tissues include bone.

Related Diseases for Noonan-Like/multiple Giant Cell Lesion Syndrome

Diseases related to Noonan-Like/multiple Giant Cell Lesion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 11.8
2 pseudo-turner syndrome 10.3
3 lentigines 10.0
4 leopard syndrome 1 10.0
5 leopard syndrome 10.0
6 pigmented villonodular synovitis 10.0
7 synovitis 10.0
8 villonodular synovitis 10.0

Graphical network of the top 20 diseases related to Noonan-Like/multiple Giant Cell Lesion Syndrome:



Diseases related to Noonan-Like/multiple Giant Cell Lesion Syndrome

Symptoms & Phenotypes for Noonan-Like/multiple Giant Cell Lesion Syndrome

Drugs & Therapeutics for Noonan-Like/multiple Giant Cell Lesion Syndrome

Search Clinical Trials , NIH Clinical Center for Noonan-Like/multiple Giant Cell Lesion Syndrome

Genetic Tests for Noonan-Like/multiple Giant Cell Lesion Syndrome

Anatomical Context for Noonan-Like/multiple Giant Cell Lesion Syndrome

MalaCards organs/tissues related to Noonan-Like/multiple Giant Cell Lesion Syndrome:

41
Bone

Publications for Noonan-Like/multiple Giant Cell Lesion Syndrome

Articles related to Noonan-Like/multiple Giant Cell Lesion Syndrome:

# Title Authors Year
1
Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. ( 20305546 )
2010
2
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. ( 19438935 )
2009
3
Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature. ( 16860226 )
2006
4
Bilateral central giant cell granulomas of the mandible in an 8-year-old girl with Noonan syndrome (Noonan-like/multiple giant cell lesion syndrome). ( 15716842 )
2005
5
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. ( 15689434 )
2005
6
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. ( 15470362 )
2004
7
Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities? ( 11169560 )
2001
8
Polyarticular pigmented villonodular synovitis associated with multiple congenital anomalies. A case of Noonan-like/multiple giant cell lesion syndrome. ( 8737730 )
1996
9
Noonan-like/multiple giant cell lesion syndrome. ( 1897569 )
1991

Variations for Noonan-Like/multiple Giant Cell Lesion Syndrome

Expression for Noonan-Like/multiple Giant Cell Lesion Syndrome

Search GEO for disease gene expression data for Noonan-Like/multiple Giant Cell Lesion Syndrome.

Pathways for Noonan-Like/multiple Giant Cell Lesion Syndrome

GO Terms for Noonan-Like/multiple Giant Cell Lesion Syndrome

Sources for Noonan-Like/multiple Giant Cell Lesion 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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