MONA
MCID: MLT065
MIFTS: 41

Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA)

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

Aliases & Classifications for Multicentric Osteolysis, Nodulosis, and Arthropathy

MalaCards integrated aliases for Multicentric Osteolysis, Nodulosis, and Arthropathy:

Name: Multicentric Osteolysis, Nodulosis, and Arthropathy 57 43 73
Torg-Winchester Syndrome 25 20 43 73 13 71
Torg Syndrome 57 25 20 43 73 36
Nodulosis-Arthropathy-Osteolysis Syndrome 57 25 20 43 73
Nao Syndrome 57 43 73 54
Multicentric Osteolysis, Nodulosis and Arthropathy 20 29 6
Al-Aqeel Sewairi Syndrome 57 43 73
Mona 57 43 73
Hereditary Multicentric Osteolysis 43 73
Multicentric Osteolysis Nodulosis and Arthropathy 25
Osteolysis, Hereditary Multicentric 57
Torg-Winchester Syndrome, Formerly 57
Torg Winchester Syndrome 39
Mona Syndrome 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
abnormal gait

Inheritance:
autosomal recessive


HPO:

31
multicentric osteolysis, nodulosis, and arthropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset childhood onset


Classifications:



Summaries for Multicentric Osteolysis, Nodulosis, and Arthropathy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 371428DefinitionA rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.EpidemiologyMulticentric osteolysis-nodulosis-arthropathy (MONA) spectrum prevalence and incidence of MONA are not known. Fewer than 50 cases have been reported worldwide. Cases have been reported from Saudi Arabia, Italy, Turkey, Algeria, Morocco, the United States, and Korea.Clinical descriptionOnset is usually at preschool age (1-5 years) and the course of the disease is variable. Manifestations of the disorder include multiple peripheral osteolysis beginning at the carpal, tarsal, metacarpal/metatarsal-phalangeal and interphalangeal joints with subsequent generalization. The joint erosions lead to small hands and feet, arthropathy causing decreased range of motion, and progressive joint contractures. Some patients have been reported to have wide metacarpals and metatarsals, generalized osteoporosis of vertebrae, short stature, coarse face or facial dysmorphism (frontal bossing and hypertelorism), gum hypertrophy, corneal opacities, hyperpigmentation, hypertrichosis, and subcutaneous fibrocollagenous nodules. Associated cardiac malformations have been reported and included transposition of the great arteries, mitral valve prolapse, bicuspid aortic valve, and atrial and ventricular septal defects. Intrafamilial variability of manifestations is also found. Due to overlapping clinical features and the involvement of mutations in MMP2gene, Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis (NAO) syndromes, that were originally reported separately, are now presumed to belong to the clinical spectrum of MONA (with other nomenclatures still being is use).EtiologyMONA spectrum disorders are caused by mutations in the MMP2 gene (16q13-q21) or MMP14 gene (14q11-q12). The pathogenesis of the disorder remains unclear.Diagnostic methodsThe diagnosis is based on the clinical manifestations of the disease and can be confirmed by molecular genetic testing.Differential diagnosisThe main differential diagnoses are juvenile idiopathic arthritis and multicentric carpotarsal osteolysis.Genetic counselingMONA spectrum disorders follow an autosomal recessive pattern on inheritance. Many cases are reported in children from consanguineous unions. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 25% risk of passing the mutation to offspring.Management and treatmentThere is no specific treatment for MONA spectrum. Management is primarily symptomatic. Some patients initially respond to non-steroidal anti-inflammatory drugs (NSAIDs).PrognosisThe progressive joint destruction leads to significant disability; many patients are wheelchair bound. However, life expectancy does not appear to be significantly affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to multicentric osteolysis-nodulosis-arthropathy spectrum and winchester syndrome. An important gene associated with Multicentric Osteolysis, Nodulosis, and Arthropathy is MMP2 (Matrix Metallopeptidase 2). The drugs Copper and Copper Supplement have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin, and related phenotypes are coarse facial features and corneal opacity

MedlinePlus Genetics : 43 Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."

OMIM® : 57 Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (277950), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features. (259600) (Updated 05-Mar-2021)

KEGG : 36 Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.

UniProtKB/Swiss-Prot : 73 Multicentric osteolysis, nodulosis, and arthropathy: An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.

GeneReviews: NBK373578

Related Diseases for Multicentric Osteolysis, Nodulosis, and Arthropathy

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

Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 multicentric osteolysis-nodulosis-arthropathy spectrum 29.1 MMP2 LPCAT2
2 winchester syndrome 11.8
3 multicentric carpotarsal osteolysis syndrome 11.3
4 arthropathy 10.7
5 autosomal recessive disease 10.6
6 ankylosis 10.3
7 systemic scleroderma 10.3
8 exophthalmos 10.3
9 osteoporosis 10.2
10 bone mineral density quantitative trait locus 8 10.2
11 bone mineral density quantitative trait locus 15 10.2
12 juvenile rheumatoid arthritis 9.9

Graphical network of the top 20 diseases related to Multicentric Osteolysis, Nodulosis, and Arthropathy:



Diseases related to Multicentric Osteolysis, Nodulosis, and Arthropathy

Symptoms & Phenotypes for Multicentric Osteolysis, Nodulosis, and Arthropathy

Human phenotypes related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 very rare (1%) HP:0000280
2 corneal opacity 31 very rare (1%) HP:0007957
3 gingival overgrowth 31 very rare (1%) HP:0000212
4 mitral valve prolapse 31 very rare (1%) HP:0001634
5 kyphoscoliosis 31 very rare (1%) HP:0002751
6 subcutaneous nodule 31 very rare (1%) HP:0001482
7 bulbous nose 31 very rare (1%) HP:0000414
8 hirsutism 31 very rare (1%) HP:0001007
9 carpal osteolysis 31 very rare (1%) HP:0001495
10 wide cranial sutures 31 very rare (1%) HP:0010537
11 c1-c2 subluxation 31 very rare (1%) HP:0003320
12 frontal bossing 31 HP:0002007
13 gait disturbance 31 HP:0001288
14 osteopenia 31 HP:0000938
15 hypertelorism 31 HP:0000316
16 pes planus 31 HP:0001763
17 short stature 31 HP:0004322
18 brachycephaly 31 HP:0000248
19 osteoporosis 31 HP:0000939
20 micrognathia 31 HP:0000347
21 arthralgia 31 HP:0002829
22 hypoplasia of the maxilla 31 HP:0000327
23 protrusio acetabuli 31 HP:0003179
24 delayed eruption of teeth 31 HP:0000684
25 proptosis 31 HP:0000520
26 split hand 31 HP:0001171
27 pes cavus 31 HP:0001761
28 hypermelanotic macule 31 HP:0001034
29 narrow nasal bridge 31 HP:0000446
30 wrist flexion contracture 31 HP:0001239
31 hip contracture 31 HP:0003273
32 thickened skin 31 HP:0001072
33 ankle flexion contracture 31 HP:0006466
34 vertebral compression fractures 31 HP:0002953
35 camptodactyly of toe 31 HP:0001836
36 broad metatarsal 31 HP:0001783
37 metacarpal osteolysis 31 HP:0001504
38 delayed closure of the anterior fontanelle 31 HP:0001476
39 metaphyseal widening 31 HP:0003016
40 antinuclear antibody positivity 31 HP:0003493
41 finger swelling 31 HP:0025131
42 thin metacarpal cortices 31 HP:0006086
43 thin metatarsal cortices 31 HP:0008078
44 osteolysis involving tarsal bones 31 HP:0006234
45 sclerotic cranial sutures 31 HP:0005441
46 interphalangeal joint contracture of finger 31 HP:0001220
47 metatarsal osteolysis 31 HP:0001473
48 interphalangeal joint erosions 31 HP:0006252
49 widened metacarpal shaft 31 HP:0006012
50 peripheral opacification of the cornea 31 HP:0008011

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Feet:
pes planus
pes cavus
thin metatarsal cortices
interphalangeal joint erosions
tarsal osteolysis
more
Skeletal Hands:
carpal osteolysis
thin metacarpal cortices
interphalangeal joint erosions
widened metacarpal shaft
finger contractures
more
Skeletal Limbs:
flexion contractures (elbows and knees)

Laboratory Abnormalities:
elevated antinuclear antibody (ana) (speckled pattern)
elevated il1-beta
elevated il6

Skeletal:
osteoporosis

Skeletal Pelvis:
flexion contracture (hip)

Skin Nails Hair Skin:
subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial)
hyperpigmented erythematous lesions

Clinical features from OMIM®:

259600 (Updated 05-Mar-2021)

Drugs & Therapeutics for Multicentric Osteolysis, Nodulosis, and Arthropathy

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 3 7440-50-8 27099
2 Copper Supplement Phase 3
3
Pamidronate Approved 40391-99-9 4674
4
Zoledronic Acid Approved 118072-93-8 68740
5 Hops Approved
6 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-center, Single-blind, Randomized Clinical Trial to Compare Two Copper IUDs: Mona Lisa NT Cu380 Mini and ParaGard Active, not recruiting NCT03124160 Phase 3 Mona Lisa® NT Cu380 Mini;ParaGard® CuT380A
2 Prevention of Catheter Associated Lower Urinary Infections Using the Oxys Indwelling Catheter Unknown status NCT02658903 Phase 1
3 Back Pain in Preclinical and Clinical Medical Students at The University of the West Indies, Mona, Jamaica Unknown status NCT03707288
4 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
5 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
6 A Comparison of a Dance Programme Delivered With the XBOX Kinect With Traditional Agility Ladder Drills on Agility Scores of Club Level Volleyball Players of the University of the West Indies, Mona Completed NCT02370368
7 Evaluation of the Valiant Mona LSA Thoracic Stent Graft System in Thoracic Aortic Aneurysms and Chronic Dissections Withdrawn NCT03738124

Search NIH Clinical Center for Multicentric Osteolysis, Nodulosis, and Arthropathy

Genetic Tests for Multicentric Osteolysis, Nodulosis, and Arthropathy

Genetic tests related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

# Genetic test Affiliating Genes
1 Multicentric Osteolysis, Nodulosis and Arthropathy 29 MMP2

Anatomical Context for Multicentric Osteolysis, Nodulosis, and Arthropathy

MalaCards organs/tissues related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

40
Bone, Eye, Skin

Publications for Multicentric Osteolysis, Nodulosis, and Arthropathy

Articles related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

(show all 39)
# Title Authors PMID Year
1
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 25 57 6 61
17059372 2007
2
A novel homozygous MMP2 mutation in a family with Winchester syndrome. 54 6 57 25
16542393 2006
3
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 6 25 57
15691365 2005
4
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 57 6 25
11431697 2001
5
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. 6 57
2625626 1989
6
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 57 25
22922033 2012
7
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. 25 57
17400654 2007
8
New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. 57 25
10861675 2000
9
Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene. 61 57
15756348 2005
10
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. 25 61
26601801 2016
11
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. 61 25
25273674 2014
12
A report of three patients with MMP2 associated hereditary osteolysis. 61 25
22876575 2012
13
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 25 61
20720557 2010
14
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 61 25
19653001 2010
15
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. 25 61
17351352 2007
16
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
17
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. 57
10861676 2000
18
Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 6
10356396 1999
19
Torg osteolysis syndrome. 57
9843039 1998
20
An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 6
6525336 1984
21
[Familial multicentric osteolysis with recessive transmission. Four cases in a family (author's transl)]. 57
7325547 1981
22
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 57
5795345 1969
23
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. 57
4238825 1969
24
Mutation in MMP2 gene may result in scleroderma-like skin thickening. 25
26420579 2016
25
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. 25
24637309 2014
26
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. 25
23900523 2013
27
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. 25
18985071 2009
28
Different roles of matrix metalloproteinase 2 in osteolysis of skeletal dysplasia and bone metastasis (Review). 61
33236155 2021
29
Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children. 61
33101055 2020
30
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 61
31218820 2019
31
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 61
31268248 2019
32
Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders. 61
28675805 2017
33
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. 61
27687687 2016
34
Multicentric Osteolysis Nodulosis and Arthropathy 61
27413800 2016
35
Identification of drug-target interaction from interactome network with 'guilt-by-association' principle and topology features. 61
26614126 2016
36
A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network. 61
20560960 2010
37
Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy. 54
17563705 2007
38
The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy. 61
16047082 2005
39
The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy. 61
16178093 2005

Variations for Multicentric Osteolysis, Nodulosis, and Arthropathy

ClinVar genetic disease variations for Multicentric Osteolysis, Nodulosis, and Arthropathy:

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMP2 NM_004530.6(MMP2):c.302G>A (p.Arg101His) SNV Pathogenic 17108 rs121912953 16:55516969-55516969 16:55483057-55483057
2 MMP2 NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) SNV Pathogenic 17110 rs121912955 16:55525742-55525742 16:55491830-55491830
3 MMP2 MMP2, 3-BP DEL, 1488TGG Deletion Pathogenic 17111
4 MMP2 NM_004530.6(MMP2):c.1357del (p.Gly454fs) Deletion Pathogenic 17112 rs1567378779 16:55527089-55527089 16:55493177-55493177
5 LPCAT2 NM_017839.5(LPCAT2):c.172-6188G>A SNV Pathogenic 625853 rs1567390809 16:55553232-55553232 16:55519320-55519320
6 MMP2 NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) SNV Pathogenic 915430 16:55532239-55532239 16:55498327-55498327
7 MMP2 NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) SNV Pathogenic 17109 rs121912954 16:55519589-55519589 16:55485677-55485677
8 MMP2 NM_004530.6(MMP2):c.1572C>T (p.Tyr524=) SNV Uncertain significance 319763 rs374801798 16:55530937-55530937 16:55497025-55497025
9 MMP2 NM_004530.6(MMP2):c.1842C>T (p.Pro614=) SNV Uncertain significance 732303 rs11541998 16:55536763-55536763 16:55502851-55502851
10 MMP2 NM_004530.6(MMP2):c.96G>T (p.Ser32=) SNV Uncertain significance 729361 rs146220690 16:55513487-55513487 16:55479575-55479575
11 MMP2 NM_004530.6(MMP2):c.1233G>A (p.Leu411=) SNV Uncertain significance 319757 rs140172728 16:55525765-55525765 16:55491853-55491853
12 MMP2 NM_004530.6(MMP2):c.759C>T (p.Ser253=) SNV Uncertain significance 283518 rs148801200 16:55519616-55519616 16:55485704-55485704
13 MMP2 NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) SNV Uncertain significance 690375 rs1596807866 16:55517044-55517044 16:55483132-55483132
14 MMP2 NM_004530.6(MMP2):c.*250C>T SNV Uncertain significance 888372 16:55539604-55539604 16:55505692-55505692
15 MMP2 NM_004530.6(MMP2):c.*277G>A SNV Uncertain significance 888373 16:55539631-55539631 16:55505719-55505719
16 MMP2 NM_004530.6(MMP2):c.1860C>T (p.Val620=) SNV Uncertain significance 714021 rs139606653 16:55536781-55536781 16:55502869-55502869
17 MMP2 NM_004530.6(MMP2):c.932C>T (p.Thr311Met) SNV Uncertain significance 198174 rs572726028 16:55522554-55522554 16:55488642-55488642
18 MMP2 NM_004530.6(MMP2):c.588C>T (p.Ala196=) SNV Uncertain significance 319747 rs886052125 16:55519269-55519269 16:55485357-55485357
19 MMP2 NM_004530.6(MMP2):c.539A>T (p.Asp180Val) SNV Uncertain significance 374345 rs1057518712 16:55519220-55519220 16:55485308-55485308
20 MMP2 NM_004530.6(MMP2):c.1779G>A (p.Glu593=) SNV Uncertain significance 319767 rs202060835 16:55536700-55536700 16:55502788-55502788
21 MMP2 NM_004530.6(MMP2):c.*228C>T SNV Uncertain significance 319775 rs886052126 16:55539582-55539582 16:55505670-55505670
22 MMP2 NM_004530.6(MMP2):c.*1204A>T SNV Uncertain significance 319787 rs758075499 16:55540558-55540558 16:55506646-55506646
23 MMP2 NM_004530.6(MMP2):c.-114G>A SNV Uncertain significance 319742 rs552672554 16:55513278-55513278 16:55479366-55479366
24 MMP2 NM_004530.6(MMP2):c.-2C>A SNV Uncertain significance 319745 rs777848153 16:55513390-55513390 16:55479478-55479478
25 MMP2 NM_004530.6(MMP2):c.1567G>T (p.Val523Leu) SNV Uncertain significance 319762 rs761833659 16:55530932-55530932 16:55497020-55497020
26 MMP2 NM_004530.6(MMP2):c.*627T>C SNV Uncertain significance 319781 rs886052129 16:55539981-55539981 16:55506069-55506069
27 MMP2 NM_004530.6(MMP2):c.*51G>A SNV Uncertain significance 319770 rs200211639 16:55539405-55539405 16:55505493-55505493
28 MMP2 NM_004530.6(MMP2):c.658+10G>A SNV Uncertain significance 319748 rs201653184 16:55519349-55519349 16:55485437-55485437
29 MMP2 NM_004530.6(MMP2):c.*498A>G SNV Uncertain significance 319779 rs886052127 16:55539852-55539852 16:55505940-55505940
30 MMP2 NM_004530.6(MMP2):c.*930C>T SNV Uncertain significance 319785 rs886052130 16:55540284-55540284 16:55506372-55506372
31 MMP2 NM_004530.6(MMP2):c.658+13C>T SNV Uncertain significance 319749 rs768031015 16:55519352-55519352 16:55485440-55485440
32 MMP2 NM_004530.6(MMP2):c.-201C>G SNV Uncertain significance 319741 rs886052124 16:55513191-55513191 16:55479279-55479279
33 MMP2 NM_004530.6(MMP2):c.*853A>G SNV Uncertain significance 319783 rs539550309 16:55540207-55540207 16:55506295-55506295
34 MMP2 NM_004530.6(MMP2):c.-7C>A SNV Uncertain significance 319744 rs765195089 16:55513385-55513385 16:55479473-55479473
35 MMP2 NM_004530.6(MMP2):c.1758C>A (p.Asp586Glu) SNV Uncertain significance 319764 rs746772419 16:55532349-55532349 16:55498437-55498437
36 MMP2 NM_004530.6(MMP2):c.1336+11G>A SNV Uncertain significance 319758 rs17859933 16:55525879-55525879 16:55491967-55491967
37 MMP2 NM_004530.6(MMP2):c.153+12C>T SNV Uncertain significance 885134 16:55513556-55513556 16:55479644-55479644
38 MMP2 NM_004530.6(MMP2):c.306C>T (p.Cys102=) SNV Uncertain significance 885135 16:55516973-55516973 16:55483061-55483061
39 MMP2 NM_004530.6(MMP2):c.344G>T (p.Arg115Leu) SNV Uncertain significance 885136 16:55517011-55517011 16:55483099-55483099
40 MMP2 NM_004530.6(MMP2):c.474G>A (p.Arg158=) SNV Uncertain significance 885137 16:55518021-55518021 16:55484109-55484109
41 MMP2 NM_004530.6(MMP2):c.1551G>A (p.Pro517=) SNV Uncertain significance 885200 16:55530916-55530916 16:55497004-55497004
42 MMP2 NM_004530.6(MMP2):c.1560T>C (p.Ile520=) SNV Uncertain significance 885201 16:55530925-55530925 16:55497013-55497013
43 MMP2 NM_004530.6(MMP2):c.1627T>C (p.Tyr543His) SNV Uncertain significance 885202 16:55532218-55532218 16:55498306-55498306
44 MMP2 NM_004530.6(MMP2):c.1634C>T (p.Ala545Val) SNV Uncertain significance 885203 16:55532225-55532225 16:55498313-55498313
45 MMP2 NM_004530.6(MMP2):c.1685C>T (p.Pro562Leu) SNV Uncertain significance 885204 16:55532276-55532276 16:55498364-55498364
46 MMP2 NM_004530.6(MMP2):c.*505T>G SNV Uncertain significance 885266 16:55539859-55539859 16:55505947-55505947
47 MMP2 NM_004530.6(MMP2):c.*642T>C SNV Uncertain significance 885268 16:55539996-55539996 16:55506084-55506084
48 MMP2 NM_004530.6(MMP2):c.813C>T (p.Tyr271=) SNV Uncertain significance 886041 16:55519670-55519670 16:55485758-55485758
49 MMP2 NM_004530.6(MMP2):c.887G>A (p.Arg296His) SNV Uncertain significance 886042 16:55522509-55522509 16:55488597-55488597
50 MMP2 NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr) SNV Uncertain significance 886043 16:55522512-55522512 16:55488600-55488600

UniProtKB/Swiss-Prot genetic disease variations for Multicentric Osteolysis, Nodulosis, and Arthropathy:

73
# Symbol AA change Variation ID SNP ID
1 MMP2 p.Arg101His VAR_032423 rs121912953
2 MMP2 p.Glu404Lys VAR_032425 rs121912955

Expression for Multicentric Osteolysis, Nodulosis, and Arthropathy

Search GEO for disease gene expression data for Multicentric Osteolysis, Nodulosis, and Arthropathy.

Pathways for Multicentric Osteolysis, Nodulosis, and Arthropathy

GO Terms for Multicentric Osteolysis, Nodulosis, and Arthropathy

Sources for Multicentric Osteolysis, Nodulosis, and Arthropathy

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