MCID: MLT138
MIFTS: 29

Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

MalaCards integrated aliases for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:

Name: Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 59
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum Disorders 6
Mona Spectrum 59

Characteristics:

Orphanet epidemiological data:

59
multicentric osteolysis-nodulosis-arthropathy spectrum
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q85.9
Orphanet 59 ORPHA371428

Summaries for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

MalaCards based summary : Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum, also known as multicentric osteolysis-nodulosis-arthropathy spectrum disorders, is related to multicentric osteolysis, nodulosis, and arthropathy and arthropathy. An important gene associated with Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum is MMP2 (Matrix Metallopeptidase 2), and among its related pathways/superpathways are Development Endothelin-1/EDNRA signaling and Colorectal Cancer Metastasis. The drugs Pamidronate and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone.

Related Diseases for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Diseases in the Multicentric Osteolysis, Nodulosis, and Arthropathy family:

Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Diseases related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 multicentric osteolysis, nodulosis, and arthropathy 29.7 MMP2 MMP14
2 arthropathy 9.9
3 winchester syndrome 9.8 MMP2 MMP14
4 light chain deposition disease 9.8 MMP2 MMP14
5 klatskin's tumor 9.8 MMP2 MMP14
6 actinic keratosis 9.8 MMP2 MMP14
7 serous cystadenocarcinoma 9.7 MMP2 MMP14
8 lymphangioleiomyomatosis 9.7 MMP2 MMP14
9 cervical cancer 9.7 MMP2 MMP14
10 fibrosarcoma 9.6 MMP2 MMP14
11 squamous cell carcinoma, head and neck 9.4 MMP2 MMP14

Graphical network of the top 20 diseases related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:



Diseases related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Symptoms & Phenotypes for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Drugs & Therapeutics for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Drugs for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved 40391-99-9 4674
2
Zoledronic Acid Approved 118072-93-8 68740
3 Diphosphonates
4 Bone Density Conservation Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate

Search NIH Clinical Center for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Genetic Tests for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Anatomical Context for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

MalaCards organs/tissues related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:

41
Bone

Publications for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Articles related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:

(show all 11)
# Title Authors PMID Year
1
Multicentric Osteolysis Nodulosis and Arthropathy 71
27413800 2016
2
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 71
22922033 2012
3
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 71
17059372 2007
4
A novel homozygous MMP2 mutation in a family with Winchester syndrome. 71
16542393 2006
5
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 71
15691365 2005
6
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 71
11431697 2001
7
Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 71
10356396 1999
8
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. 71
2625626 1989
9
An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 71
6525336 1984
10
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. 71
4238825 1969
11
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. 38
27687687 2016

Variations for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

ClinVar genetic disease variations for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MMP2 NM_004530.6(MMP2): c.302G> A (p.Arg101His) single nucleotide variant Pathogenic rs121912953 16:55516969-55516969 16:55483057-55483057
2 MMP2 NM_004530.6(MMP2): c.732C> A (p.Tyr244Ter) single nucleotide variant Pathogenic rs121912954 16:55519589-55519589 16:55485677-55485677
3 MMP2 NM_004530.6(MMP2): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs121912955 16:55525742-55525742 16:55491830-55491830
4 MMP2 MMP2, 3-BP DEL, 1488TGG deletion Pathogenic
5 MMP2 NM_004530.6(MMP2): c.1357del (p.Gly454fs) deletion Pathogenic 16:55527090-55527090 16:55493178-55493178
6 LPCAT2 NM_017839.5(LPCAT2): c.172-6188G> A single nucleotide variant Pathogenic 16:55553232-55553232 16:55519320-55519320
7 MMP2 NM_004530.6(MMP2): c.*498A> G single nucleotide variant Uncertain significance rs886052127 16:55539852-55539852 16:55505940-55505940
8 MMP2 NM_004530.6(MMP2): c.*453C> G single nucleotide variant Uncertain significance rs562314074 16:55539807-55539807 16:55505895-55505895
9 MMP2 NM_004530.6(MMP2): c.*627T> C single nucleotide variant Uncertain significance rs886052129 16:55539981-55539981 16:55506069-55506069
10 MMP2 NM_004530.6(MMP2): c.*930C> T single nucleotide variant Uncertain significance rs886052130 16:55540284-55540284 16:55506372-55506372
11 MMP2 NM_004530.6(MMP2): c.1567G> T (p.Val523Leu) single nucleotide variant Uncertain significance rs761833659 16:55530932-55530932 16:55497020-55497020
12 MMP2 NM_004530.6(MMP2): c.1779G> A (p.Glu593=) single nucleotide variant Uncertain significance rs202060835 16:55536700-55536700 16:55502788-55502788
13 MMP2 NM_004530.6(MMP2): c.1769+10G> A single nucleotide variant Uncertain significance rs201956873 16:55532370-55532370 16:55498458-55498458
14 MMP2 NM_004530.6(MMP2): c.539A> T (p.Asp180Val) single nucleotide variant Uncertain significance rs1057518712 16:55519220-55519220 16:55485308-55485308
15 MMP2 NM_004530.6(MMP2): c.1858G> A (p.Val620Ile) single nucleotide variant Uncertain significance rs41459945 16:55536779-55536779 16:55502867-55502867
16 MMP2 NM_004530.6(MMP2): c.51C> T (p.Leu17=) single nucleotide variant Uncertain significance rs41503347 16:55513442-55513442 16:55479530-55479530
17 MMP2 NM_004530.6(MMP2): c.588C> T (p.Ala196=) single nucleotide variant Uncertain significance rs886052125 16:55519269-55519269 16:55485357-55485357
18 MMP2 NM_004530.6(MMP2): c.658+10G> A single nucleotide variant Uncertain significance rs201653184 16:55519349-55519349 16:55485437-55485437
19 MMP2 NM_004530.6(MMP2): c.*170G> A single nucleotide variant Uncertain significance rs41280909 16:55539524-55539524 16:55505612-55505612
20 MMP2 NM_004530.6(MMP2): c.*228C> T single nucleotide variant Uncertain significance rs886052126 16:55539582-55539582 16:55505670-55505670
21 MMP2 NM_004530.6(MMP2): c.*400G> A single nucleotide variant Uncertain significance rs17860021 16:55539754-55539754 16:55505842-55505842
22 MMP2 NM_004530.6(MMP2): c.*551dup duplication Uncertain significance rs886052128 16:55539905-55539905 16:55505993-55505993
23 MMP2 NM_004530.6(MMP2): c.*1204A> T single nucleotide variant Uncertain significance rs758075499 16:55540558-55540558 16:55506646-55506646
24 MMP2 NM_004530.6(MMP2): c.-114G> A single nucleotide variant Uncertain significance rs552672554 16:55513278-55513278 16:55479366-55479366
25 MMP2 NM_004530.6(MMP2): c.-7C> A single nucleotide variant Uncertain significance rs765195089 16:55513385-55513385 16:55479473-55479473
26 MMP2 NM_004530.6(MMP2): c.-2C> A single nucleotide variant Uncertain significance rs777848153 16:55513390-55513390 16:55479478-55479478
27 MMP2 NM_004530.6(MMP2): c.658+13C> T single nucleotide variant Uncertain significance rs768031015 16:55519352-55519352 16:55485440-55485440
28 MMP2 NM_004530.6(MMP2): c.1144G> A (p.Asp382Asn) single nucleotide variant Uncertain significance rs555030156 16:55523700-55523700 16:55489788-55489788
29 MMP2 NM_004530.6(MMP2): c.1233G> A (p.Leu411=) single nucleotide variant Uncertain significance rs140172728 16:55525765-55525765 16:55491853-55491853
30 MMP2 NM_004530.6(MMP2): c.1336+11G> A single nucleotide variant Uncertain significance rs17859933 16:55525879-55525879 16:55491967-55491967
31 MMP2 NM_004530.6(MMP2): c.1572C> T (p.Tyr524=) single nucleotide variant Uncertain significance rs374801798 16:55530937-55530937 16:55497025-55497025
32 MMP2 NM_004530.6(MMP2): c.1758C> A (p.Asp586Glu) single nucleotide variant Uncertain significance rs746772419 16:55532349-55532349 16:55498437-55498437
33 MMP2 NM_004530.6(MMP2): c.*51G> A single nucleotide variant Uncertain significance rs200211639 16:55539405-55539405 16:55505493-55505493
34 MMP2 NM_004530.6(MMP2): c.*132T> A single nucleotide variant Uncertain significance rs55926431 16:55539486-55539486 16:55505574-55505574
35 MMP2 NM_004530.6(MMP2): c.*212C> T single nucleotide variant Uncertain significance rs147506379 16:55539566-55539566 16:55505654-55505654
36 MMP2 NM_004530.6(MMP2): c.*669C> G single nucleotide variant Uncertain significance rs17860024 16:55540023-55540023 16:55506111-55506111
37 MMP2 NM_004530.6(MMP2): c.*853A> G single nucleotide variant Uncertain significance rs539550309 16:55540207-55540207 16:55506295-55506295
38 MMP2 NM_004530.6(MMP2): c.*872C> T single nucleotide variant Uncertain significance rs140455191 16:55540226-55540226 16:55506314-55506314
39 MMP2 NM_004530.6(MMP2): c.-201C> G single nucleotide variant Uncertain significance rs886052124 16:55513191-55513191 16:55479279-55479279
40 MMP2 NM_004530.6(MMP2): c.-201_-199CGG[8] short repeat Uncertain significance rs567092201 16:55513209-55513211 16:55479297-55479299
41 MMP2 NM_004530.6(MMP2): c.-61G> C single nucleotide variant Likely benign rs2287073 16:55513331-55513331 16:55479419-55479419
42 MMP2 NM_004530.6(MMP2): c.750C> T (p.Thr250=) single nucleotide variant Likely benign rs1053605 16:55519607-55519607 16:55485695-55485695
43 MMP2 NM_004530.6(MMP2): c.832+12C> T single nucleotide variant Likely benign rs17859889 16:55519701-55519701 16:55485789-55485789
44 MMP2 NM_004530.6(MMP2): c.1337-7T> C single nucleotide variant Likely benign rs17859942 16:55527063-55527063 16:55493151-55493151
45 MMP2 NM_004530.6(MMP2): c.1066C> T (p.Leu356=) single nucleotide variant Likely benign rs41513346 16:55523622-55523622 16:55489710-55489710
46 MMP2 NM_004530.6(MMP2): c.1098C> T (p.Ala366=) single nucleotide variant Likely benign rs16955236 16:55523654-55523654 16:55489742-55489742
47 MMP2 NM_004530.6(MMP2): c.1340C> T (p.Ala447Val) single nucleotide variant Likely benign rs17859943 16:55527073-55527073 16:55493161-55493161
48 MMP2 NM_004530.6(MMP2): c.1842C> G (p.Pro614=) single nucleotide variant Likely benign rs11541998 16:55536763-55536763 16:55502851-55502851
49 MMP2 NM_004530.6(MMP2): c.*159T> C single nucleotide variant Likely benign rs17860019 16:55539513-55539513 16:55505601-55505601
50 MMP2 NM_004530.6(MMP2): c.*1062C> T single nucleotide variant Likely benign rs2052264 16:55540416-55540416 16:55506504-55506504

Expression for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Search GEO for disease gene expression data for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum.

Pathways for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Pathways related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 MMP2 MMP14
2 11.54 MMP2 MMP14
3 11.35 MMP2 MMP14
4
Show member pathways
11.15 MMP2 MMP14
5 10.78 MMP2 MMP14
6 10.41 MMP2 MMP14

GO Terms for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Cellular components related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MMP2 MMP14

Biological processes related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.32 MMP2 MMP14
2 response to hypoxia GO:0001666 9.26 MMP2 MMP14
3 extracellular matrix disassembly GO:0022617 9.16 MMP2 MMP14
4 collagen catabolic process GO:0030574 8.96 MMP2 MMP14
5 endodermal cell differentiation GO:0035987 8.62 MMP2 MMP14

Molecular functions related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 8.96 MMP2 MMP14
2 serine-type endopeptidase activity GO:0004252 8.85 MMP2
3 metalloendopeptidase activity GO:0004222 8.62 MMP2 MMP14

Sources for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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