MCID: MLT138
MIFTS: 12

Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

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

Aliases & Classifications for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

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

Name: Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 60
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum Disorders 6
Mona Spectrum 60

Characteristics:

Orphanet epidemiological data:

60
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 35 Q85.9
Orphanet 60 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 joint disorders. An important gene associated with Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum is LPCAT2 (Lysophosphatidylcholine Acyltransferase 2). 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:

# Related Disease Score Top Affiliating Genes
1 multicentric osteolysis, nodulosis, and arthropathy 10.0
2 joint disorders 10.0
3 arthropathy 10.0

Symptoms & Phenotypes for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Drugs & Therapeutics for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Search Clinical Trials , 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:

42
Bone

Publications for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Articles related to Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum:

# Title Authors Year
1
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. ( 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 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP2 NM_004530.5(MMP2): c.302G> A (p.Arg101His) single nucleotide variant Pathogenic rs121912953 GRCh37 Chromosome 16, 55516969: 55516969
2 MMP2 NM_004530.5(MMP2): c.302G> A (p.Arg101His) single nucleotide variant Pathogenic rs121912953 GRCh38 Chromosome 16, 55483057: 55483057
3 MMP2 NM_004530.5(MMP2): c.732C> A (p.Tyr244Ter) single nucleotide variant Pathogenic rs121912954 GRCh37 Chromosome 16, 55519589: 55519589
4 MMP2 NM_004530.5(MMP2): c.732C> A (p.Tyr244Ter) single nucleotide variant Pathogenic rs121912954 GRCh38 Chromosome 16, 55485677: 55485677
5 MMP2 NM_004530.5(MMP2): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs121912955 GRCh37 Chromosome 16, 55525742: 55525742
6 MMP2 NM_004530.5(MMP2): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs121912955 GRCh38 Chromosome 16, 55491830: 55491830
7 MMP2 MMP2, 3-BP DEL, 1488TGG deletion Pathogenic
8 MMP2 NM_004530.5(MMP2): c.1357del (p.Gly454Alafs) deletion Pathogenic GRCh38 Chromosome 16, 55493178: 55493178
9 MMP2 NM_004530.5(MMP2): c.1357del (p.Gly454Alafs) deletion Pathogenic GRCh37 Chromosome 16, 55527090: 55527090
10 MMP2 NM_004530.5(MMP2): c.1858G> A (p.Val620Ile) single nucleotide variant Uncertain significance rs41459945 GRCh37 Chromosome 16, 55536779: 55536779
11 MMP2 NM_004530.5(MMP2): c.1858G> A (p.Val620Ile) single nucleotide variant Uncertain significance rs41459945 GRCh38 Chromosome 16, 55502867: 55502867
12 MMP2 NM_004530.5(MMP2): c.51C> T (p.Leu17=) single nucleotide variant Uncertain significance rs41503347 GRCh38 Chromosome 16, 55479530: 55479530
13 MMP2 NM_004530.5(MMP2): c.51C> T (p.Leu17=) single nucleotide variant Uncertain significance rs41503347 GRCh37 Chromosome 16, 55513442: 55513442
14 MMP2 NM_004530.5(MMP2): c.588C> T (p.Ala196=) single nucleotide variant Uncertain significance rs886052125 GRCh38 Chromosome 16, 55485357: 55485357
15 MMP2 NM_004530.5(MMP2): c.588C> T (p.Ala196=) single nucleotide variant Uncertain significance rs886052125 GRCh37 Chromosome 16, 55519269: 55519269
16 MMP2 NM_004530.5(MMP2): c.658+10G> A single nucleotide variant Uncertain significance rs201653184 GRCh38 Chromosome 16, 55485437: 55485437
17 MMP2 NM_004530.5(MMP2): c.658+10G> A single nucleotide variant Uncertain significance rs201653184 GRCh37 Chromosome 16, 55519349: 55519349
18 MMP2 NM_004530.5(MMP2): c.1098C> T (p.Ala366=) single nucleotide variant Likely benign rs16955236 GRCh37 Chromosome 16, 55523654: 55523654
19 MMP2 NM_004530.5(MMP2): c.1098C> T (p.Ala366=) single nucleotide variant Likely benign rs16955236 GRCh38 Chromosome 16, 55489742: 55489742
20 MMP2 NM_004530.5(MMP2): c.1340C> T (p.Ala447Val) single nucleotide variant Likely benign rs17859943 GRCh37 Chromosome 16, 55527073: 55527073
21 MMP2 NM_004530.5(MMP2): c.1340C> T (p.Ala447Val) single nucleotide variant Likely benign rs17859943 GRCh38 Chromosome 16, 55493161: 55493161
22 MMP2 NM_004530.5(MMP2): c.1567G> T (p.Val523Leu) single nucleotide variant Uncertain significance rs761833659 GRCh37 Chromosome 16, 55530932: 55530932
23 MMP2 NM_004530.5(MMP2): c.1567G> T (p.Val523Leu) single nucleotide variant Uncertain significance rs761833659 GRCh38 Chromosome 16, 55497020: 55497020
24 MMP2 NM_004530.5(MMP2): c.1770-4A> G single nucleotide variant Benign rs243834 GRCh38 Chromosome 16, 55502775: 55502775
25 MMP2 NM_004530.5(MMP2): c.1770-4A> G single nucleotide variant Benign rs243834 GRCh37 Chromosome 16, 55536687: 55536687
26 MMP2 NM_004530.5(MMP2): c.1779G> A (p.Glu593=) single nucleotide variant Uncertain significance rs202060835 GRCh38 Chromosome 16, 55502788: 55502788
27 MMP2 NM_004530.5(MMP2): c.1779G> A (p.Glu593=) single nucleotide variant Uncertain significance rs202060835 GRCh37 Chromosome 16, 55536700: 55536700
28 MMP2 NM_004530.5(MMP2): c.*159T> C single nucleotide variant Likely benign rs17860019 GRCh38 Chromosome 16, 55505601: 55505601
29 MMP2 NM_004530.5(MMP2): c.*159T> C single nucleotide variant Likely benign rs17860019 GRCh37 Chromosome 16, 55539513: 55539513
30 MMP2 NM_004530.5(MMP2): c.*170G> A single nucleotide variant Uncertain significance rs41280909 GRCh38 Chromosome 16, 55505612: 55505612
31 MMP2 NM_004530.5(MMP2): c.*170G> A single nucleotide variant Uncertain significance rs41280909 GRCh37 Chromosome 16, 55539524: 55539524
32 MMP2 NM_004530.5(MMP2): c.*228C> T single nucleotide variant Uncertain significance rs886052126 GRCh38 Chromosome 16, 55505670: 55505670
33 MMP2 NM_004530.5(MMP2): c.*228C> T single nucleotide variant Uncertain significance rs886052126 GRCh37 Chromosome 16, 55539582: 55539582
34 MMP2 NM_004530.5(MMP2): c.*400G> A single nucleotide variant Uncertain significance rs17860021 GRCh38 Chromosome 16, 55505842: 55505842
35 MMP2 NM_004530.5(MMP2): c.*400G> A single nucleotide variant Uncertain significance rs17860021 GRCh37 Chromosome 16, 55539754: 55539754
36 MMP2 NM_004530.5(MMP2): c.*551dupT duplication Uncertain significance rs886052128 GRCh38 Chromosome 16, 55505993: 55505993
37 MMP2 NM_004530.5(MMP2): c.*551dupT duplication Uncertain significance rs886052128 GRCh37 Chromosome 16, 55539905: 55539905
38 MMP2 NM_004530.5(MMP2): c.*1204A> T single nucleotide variant Uncertain significance rs758075499 GRCh38 Chromosome 16, 55506646: 55506646
39 MMP2 NM_004530.5(MMP2): c.*1204A> T single nucleotide variant Uncertain significance rs758075499 GRCh37 Chromosome 16, 55540558: 55540558
40 MMP2 NM_004530.5(MMP2): c.-114G> A single nucleotide variant Uncertain significance rs552672554 GRCh38 Chromosome 16, 55479366: 55479366
41 MMP2 NM_004530.5(MMP2): c.-114G> A single nucleotide variant Uncertain significance rs552672554 GRCh37 Chromosome 16, 55513278: 55513278
42 MMP2 NM_004530.5(MMP2): c.-7C> A single nucleotide variant Uncertain significance rs765195089 GRCh37 Chromosome 16, 55513385: 55513385
43 MMP2 NM_004530.5(MMP2): c.-7C> A single nucleotide variant Uncertain significance rs765195089 GRCh38 Chromosome 16, 55479473: 55479473
44 MMP2 NM_004530.5(MMP2): c.-2C> A single nucleotide variant Uncertain significance rs777848153 GRCh38 Chromosome 16, 55479478: 55479478
45 MMP2 NM_004530.5(MMP2): c.-2C> A single nucleotide variant Uncertain significance rs777848153 GRCh37 Chromosome 16, 55513390: 55513390
46 MMP2 NM_004530.5(MMP2): c.658+13C> T single nucleotide variant Uncertain significance rs768031015 GRCh38 Chromosome 16, 55485440: 55485440
47 MMP2 NM_004530.5(MMP2): c.658+13C> T single nucleotide variant Uncertain significance rs768031015 GRCh37 Chromosome 16, 55519352: 55519352
48 MMP2 NM_004530.5(MMP2): c.1066C> T (p.Leu356=) single nucleotide variant Likely benign rs41513346 GRCh37 Chromosome 16, 55523622: 55523622
49 MMP2 NM_004530.5(MMP2): c.1066C> T (p.Leu356=) single nucleotide variant Likely benign rs41513346 GRCh38 Chromosome 16, 55489710: 55489710
50 MMP2 NM_004530.5(MMP2): c.1149T> C (p.Asp383=) single nucleotide variant Benign rs243849 GRCh37 Chromosome 16, 55523705: 55523705

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

GO Terms for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

Sources for Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

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