MONA
MCID: MLT065
MIFTS: 42

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 56 25 73
Torg-Winchester Syndrome 24 52 25 73 13 71
Torg Syndrome 56 24 52 25 73 36
Nodulosis-Arthropathy-Osteolysis Syndrome 56 24 25 73
Nao Syndrome 56 25 73 54
Multicentric Osteolysis, Nodulosis and Arthropathy 52 29 6
Al-Aqeel Sewairi Syndrome 56 25 73
Mona 56 25 73
Hereditary Multicentric Osteolysis 25 73
Multicentric Osteolysis Nodulosis and Arthropathy 24
Nodulosis-Arthropathy-Osteolysis Syndrome, 52
Osteolysis, Hereditary Multicentric 56
Torg-Winchester Syndrome, Formerly 56
Torg Winchester Syndrome 39
Mona Syndrome 52

Characteristics:

OMIM:

56
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


Classifications:



Summaries for Multicentric Osteolysis, Nodulosis, and Arthropathy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 371428 Definition A 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. Epidemiology Multicentric 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 description Onset 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 MMP2 gene , 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). Etiology MONA 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 methods The diagnosis is based on the clinical manifestations of the disease and can be confirmed by molecular genetic testing . Differential diagnosis The main differential diagnoses are juvenile idiopathic arthritis and multicentric carpotarsal osteolysis. Genetic counseling MONA 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 treatment There is no specific treatment for MONA spectrum. Management is primarily symptomatic. Some patients initially respond to non-steroidal anti-inflammatory drugs (NSAIDs). Prognosis The 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 Clobetasol and Copper have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are coarse facial features and gingival overgrowth

Genetics Home Reference : 25 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 : 56 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)

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 13)
# Related Disease Score Top Affiliating Genes
1 multicentric osteolysis-nodulosis-arthropathy spectrum 29.3 MMP2 LPCAT2
2 winchester syndrome 12.1
3 multicentric carpotarsal osteolysis syndrome 11.6
4 arthropathy 10.8
5 autosomal recessive disease 10.7
6 osteoporosis 10.4
7 bone mineral density quantitative trait locus 8 10.4
8 bone mineral density quantitative trait locus 15 10.4
9 ankylosis 10.3
10 systemic scleroderma 10.3
11 exophthalmos 10.3
12 juvenile rheumatoid arthritis 10.1
13 headache 10.0

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 51)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 HP:0000280
2 gingival overgrowth 31 HP:0000212
3 hypertelorism 31 HP:0000316
4 pes planus 31 HP:0001763
5 short stature 31 HP:0004322
6 gait disturbance 31 HP:0001288
7 brachycephaly 31 HP:0000248
8 hypermelanotic macule 31 HP:0001034
9 subcutaneous nodule 31 HP:0001482
10 arthralgia 31 HP:0002829
11 frontal bossing 31 HP:0002007
12 thickened skin 31 HP:0001072
13 osteopenia 31 HP:0000938
14 osteoporosis 31 HP:0000939
15 micrognathia 31 HP:0000347
16 kyphoscoliosis 31 HP:0002751
17 hypoplasia of the maxilla 31 HP:0000327
18 protrusio acetabuli 31 HP:0003179
19 delayed eruption of teeth 31 HP:0000684
20 proptosis 31 HP:0000520
21 split hand 31 HP:0001171
22 bulbous nose 31 HP:0000414
23 abnormality of the thorax 31 HP:0000765
24 pes cavus 31 HP:0001761
25 narrow nasal bridge 31 HP:0000446
26 wrist flexion contracture 31 HP:0001239
27 hip contracture 31 HP:0003273
28 ankle flexion contracture 31 HP:0006466
29 vertebral compression fractures 31 HP:0002953
30 hirsutism 31 HP:0001007
31 camptodactyly of toe 31 HP:0001836
32 broad metatarsal 31 HP:0001783
33 carpal osteolysis 31 HP:0001495
34 metacarpal osteolysis 31 HP:0001504
35 abnormality of the ear 31 HP:0000598
36 delayed closure of the anterior fontanelle 31 HP:0001476
37 metaphyseal widening 31 HP:0003016
38 antinuclear antibody positivity 31 HP:0003493
39 finger swelling 31 HP:0025131
40 thin metacarpal cortices 31 HP:0006086
41 thin metatarsal cortices 31 HP:0008078
42 osteolysis involving tarsal bones 31 HP:0006234
43 sclerotic cranial sutures 31 HP:0005441
44 interphalangeal joint contracture of finger 31 HP:0001220
45 metatarsal osteolysis 31 HP:0001473
46 c1-c2 subluxation 31 HP:0003320
47 widened metacarpal shaft 31 HP:0006012
48 interphalangeal joint erosions 31 HP:0006252
49 peripheral opacification of the cornea 31 HP:0008011
50 ankylosis of feet small joints 31 HP:0008090

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes planus
pes cavus
thin metatarsal cortices
interphalangeal joint erosions
tarsal osteolysis
more
Skeletal Hands:
carpal osteolysis
thin metacarpal cortices
widened metacarpal shaft
interphalangeal joint erosions
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

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobetasol Approved, Experimental, Investigational Phase 3 25122-41-2, 25122-46-7 32798 5311051
2
Copper Approved, Investigational Phase 3 7440-50-8 27099
3 Hormone Antagonists Phase 3
4 Hormones Phase 3
5 glucocorticoids Phase 3
6 Anti-Inflammatory Agents Phase 3
7 Copper Supplement Phase 3
8
Zoledronic Acid Approved 118072-93-8 68740
9
Pamidronate Approved 40391-99-9 4674
10 Hops Approved
11
Heparin Approved, Investigational 9005-49-6 46507594 772
12
tannic acid Approved 1401-55-4
13
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
14 Diphosphonates
15 Hemostatics
16 Dermatologic Agents
17 Anesthetics
18 calcium heparin

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Randomized Trial of Clobetasol Proprionate Versus Fractionated CO2 Laser for the Treatment of Lichen Sclerosus (CuRLS) Completed NCT02573883 Phase 3 Clobetasol Propionate 0.05% ointment
2 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
3 Prevention of Catheter Associated Lower Urinary Infections Using the Oxys Indwelling Catheter Unknown status NCT02658903 Phase 1
4 Prospective Population Based Cohort Study on Cognitive and Cardiovascular Aging Unknown status NCT02566538
5 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
6 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
7 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
8 Dietary Restrictions Implications on Metabolic Changes in Obese Men : Comparison Between Two Groups of Different Ages (60-70 Years Old Versus 30-40 Years Old) Completed NCT02161926
9 Method of Measuring Comorbidity and Time-point to Predict Readmission and Mortality of Intensive Care Patients: an Observational Study Using Linked Data From National Registers of Hospital Care and Cause of Death Completed NCT04109001
10 Development and Testing of a Jamaican Mother-daughter HIV Risk-reduction Program Completed NCT03411577
11 Evaluation of the Valiant Mona LSA Thoracic Stent Graft System in Descending Thoracic Aortic Aneurysms and Chronic Dissections Active, not recruiting NCT02365467
12 A Randomized, Placebo-Controlled Trial Evaluating Radiofrequency and Hybrid Fractional Laser for Vaginal Rejuvenation Active, not recruiting NCT03316950
13 Evaluation of the Valiant Mona LSA Thoracic Stent Graft System in Thoracic Aortic Aneurysms and Chronic Dissections Not yet recruiting NCT03738124
14 Back Pain in Preclinical and Clinical Medical Students at The University of the West Indies, Mona, Jamaica Not yet recruiting NCT03707288
15 English Title: Extreme Challenges - Psychopathology, Treatment Organization and Experiences Among Psychiatric Inpatients With Severe Self-harming Behavior in Norway Not yet recruiting NCT03768674
16 International Bicuspid Aortic Valve Consortium (BAVCon) Suspended NCT01980797

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, Skin, Testes, Eye, Heart

Publications for Multicentric Osteolysis, Nodulosis, and Arthropathy

Articles related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

(show all 37)
# Title Authors PMID Year
1
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 61 24 56 6
17059372 2007
2
A novel homozygous MMP2 mutation in a family with Winchester syndrome. 54 56 24 6
16542393 2006
3
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 24 56 6
15691365 2005
4
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 56 6 24
11431697 2001
5
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. 6 56
2625626 1989
6
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 24 56
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. 24 56
17400654 2007
8
New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. 56 24
10861675 2000
9
Multicentric Osteolysis Nodulosis and Arthropathy 6 61
27413800 2016
10
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 56
15756348 2005
11
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. 61 24
26601801 2016
12
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. 61 24
25273674 2014
13
A report of three patients with MMP2 associated hereditary osteolysis. 24 61
22876575 2012
14
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 61 24
20720557 2010
15
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 24 61
19653001 2010
16
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. 24 61
17351352 2007
17
Nosology and classification of genetic skeletal disorders: 2006 revision. 56
17120245 2007
18
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. 56
10861676 2000
19
Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 6
10356396 1999
20
Torg osteolysis syndrome. 56
9843039 1998
21
An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 6
6525336 1984
22
[Familial multicentric osteolysis with recessive transmission. Four cases in a family (author's transl)]. 56
7325547 1981
23
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 56
5795345 1969
24
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. 56
4238825 1969
25
Mutation in MMP2 gene may result in scleroderma-like skin thickening. 24
26420579 2016
26
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. 24
24637309 2014
27
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. 24
23900523 2013
28
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. 24
18985071 2009
29
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 61
31218820 2019
30
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 61
31268248 2019
31
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
32
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. 61
27687687 2016
33
Identification of drug-target interaction from interactome network with 'guilt-by-association' principle and topology features. 61
26614126 2016
34
A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network. 61
20560960 2010
35
Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy. 54
17563705 2007
36
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
37
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LPCAT2 NM_017839.5(LPCAT2):c.172-6188G>ASNV Pathogenic 625853 rs1567390809 16:55553232-55553232 16:55519320-55519320
2 MMP2 NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter)SNV Pathogenic 915430 16:55532239-55532239 16:55498327-55498327
3 MMP2 NM_004530.6(MMP2):c.302G>A (p.Arg101His)SNV Pathogenic 17108 rs121912953 16:55516969-55516969 16:55483057-55483057
4 MMP2 NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter)SNV Pathogenic 17109 rs121912954 16:55519589-55519589 16:55485677-55485677
5 MMP2 NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys)SNV Pathogenic 17110 rs121912955 16:55525742-55525742 16:55491830-55491830
6 MMP2 MMP2, 3-BP DEL, 1488TGGdeletion Pathogenic 17111
7 MMP2 NM_004530.6(MMP2):c.1357del (p.Gly454fs)deletion Pathogenic 17112 rs1567378779 16:55527089-55527089 16:55493177-55493177
8 MMP2 NM_004530.6(MMP2):c.1858G>A (p.Val620Ile)SNV Conflicting interpretations of pathogenicity 194059 rs41459945 16:55536779-55536779 16:55502867-55502867
9 MMP2 NM_004530.6(MMP2):c.759C>T (p.Ser253=)SNV Conflicting interpretations of pathogenicity 283518 rs148801200 16:55519616-55519616 16:55485704-55485704
10 MMP2 NM_004530.6(MMP2):c.658+10G>ASNV Conflicting interpretations of pathogenicity 319748 rs201653184 16:55519349-55519349 16:55485437-55485437
11 MMP2 NM_004530.6(MMP2):c.1233G>A (p.Leu411=)SNV Conflicting interpretations of pathogenicity 319757 rs140172728 16:55525765-55525765 16:55491853-55491853
12 MMP2 NM_004530.6(MMP2):c.1860C>T (p.Val620=)SNV Conflicting interpretations of pathogenicity 714021 16:55536781-55536781 16:55502869-55502869
13 MMP2 NM_004530.6(MMP2):c.96G>T (p.Ser32=)SNV Conflicting interpretations of pathogenicity 729361 16:55513487-55513487 16:55479575-55479575
14 MMP2 NM_004530.6(MMP2):c.1842C>T (p.Pro614=)SNV Conflicting interpretations of pathogenicity 732303 16:55536763-55536763 16:55502851-55502851
15 MMP2 NM_004530.6(MMP2):c.1572C>T (p.Tyr524=)SNV Conflicting interpretations of pathogenicity 319763 rs374801798 16:55530937-55530937 16:55497025-55497025
16 MMP2 NM_004530.6(MMP2):c.1758C>A (p.Asp586Glu)SNV Uncertain significance 319764 rs746772419 16:55532349-55532349 16:55498437-55498437
17 MMP2 NM_004530.6(MMP2):c.*51G>ASNV Uncertain significance 319770 rs200211639 16:55539405-55539405 16:55505493-55505493
18 MMP2 NM_004530.6(MMP2):c.*132T>ASNV Uncertain significance 319771 rs55926431 16:55539486-55539486 16:55505574-55505574
19 MMP2 NM_004530.6(MMP2):c.-201C>GSNV Uncertain significance 319741 rs886052124 16:55513191-55513191 16:55479279-55479279
20 MMP2 NM_004530.6(MMP2):c.*853A>GSNV Uncertain significance 319783 rs539550309 16:55540207-55540207 16:55506295-55506295
21 MMP2 NM_004530.6(MMP2):c.*498A>GSNV Uncertain significance 319779 rs886052127 16:55539852-55539852 16:55505940-55505940
22 MMP2 NM_004530.6(MMP2):c.1144G>A (p.Asp382Asn)SNV Uncertain significance 319755 rs555030156 16:55523700-55523700 16:55489788-55489788
23 MMP2 NM_004530.6(MMP2):c.539A>T (p.Asp180Val)SNV Uncertain significance 374345 rs1057518712 16:55519220-55519220 16:55485308-55485308
24 MMP2 NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys)SNV Uncertain significance 690375 16:55517044-55517044 16:55483132-55483132
25 MMP2 NM_004530.6(MMP2):c.*250C>TSNV Uncertain significance 888372 16:55539604-55539604 16:55505692-55505692
26 MMP2 NM_004530.6(MMP2):c.*277G>ASNV Uncertain significance 888373 16:55539631-55539631 16:55505719-55505719
27 MMP2 NM_004530.6(MMP2):c.*505T>GSNV Uncertain significance 885266 16:55539859-55539859 16:55505947-55505947
28 MMP2 NM_004530.6(MMP2):c.*642T>CSNV Uncertain significance 885268 16:55539996-55539996 16:55506084-55506084
29 MMP2 NM_004530.6(MMP2):c.*799G>ASNV Uncertain significance 886161 16:55540153-55540153 16:55506241-55506241
30 MMP2 NM_004530.6(MMP2):c.*1012T>ASNV Uncertain significance 886162 16:55540366-55540366 16:55506454-55506454
31 MMP2 NM_004530.6(MMP2):c.*1029G>ASNV Uncertain significance 886163 16:55540383-55540383 16:55506471-55506471
32 MMP2 NM_004530.6(MMP2):c.*1048C>TSNV Uncertain significance 886164 16:55540402-55540402 16:55506490-55506490
33 MMP2 NM_004530.6(MMP2):c.*1204A>GSNV Uncertain significance 887176 16:55540558-55540558 16:55506646-55506646
34 MMP2 NM_004530.6(MMP2):c.153+12C>TSNV Uncertain significance 885134 16:55513556-55513556 16:55479644-55479644
35 MMP2 NM_004530.6(MMP2):c.-147T>ASNV Uncertain significance 886975 16:55513245-55513245 16:55479333-55479333
36 MMP2 NM_004530.6(MMP2):c.38C>G (p.Pro13Arg)SNV Uncertain significance 888242 16:55513429-55513429 16:55479517-55479517
37 MMP2 NM_004530.6(MMP2):c.115G>A (p.Gly39Ser)SNV Uncertain significance 888243 16:55513506-55513506 16:55479594-55479594
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.813C>T (p.Tyr271=)SNV Uncertain significance 886041 16:55519670-55519670 16:55485758-55485758
42 MMP2 NM_004530.6(MMP2):c.887G>A (p.Arg296His)SNV Uncertain significance 886042 16:55522509-55522509 16:55488597-55488597
43 MMP2 NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr)SNV Uncertain significance 886043 16:55522512-55522512 16:55488600-55488600
44 MMP2 NM_004530.6(MMP2):c.920C>T (p.Thr307Ile)SNV Uncertain significance 886044 16:55522542-55522542 16:55488630-55488630
45 MMP2 NM_004530.6(MMP2):c.969C>T (p.Tyr323=)SNV Uncertain significance 887036 16:55522591-55522591 16:55488679-55488679
46 MMP2 NM_004530.6(MMP2):c.1276A>C (p.Thr426Pro)SNV Uncertain significance 888305 16:55525808-55525808 16:55491896-55491896
47 MMP2 NM_004530.6(MMP2):c.1484G>A (p.Arg495Gln)SNV Uncertain significance 888306 16:55530849-55530849 16:55496937-55496937
48 MMP2 NM_004530.6(MMP2):c.1493C>T (p.Thr498Met)SNV Uncertain significance 888307 16:55530858-55530858 16:55496946-55496946
49 MMP2 NM_004530.6(MMP2):c.1551G>A (p.Pro517=)SNV Uncertain significance 885200 16:55530916-55530916 16:55497004-55497004
50 MMP2 NM_004530.6(MMP2):c.1560T>C (p.Ile520=)SNV Uncertain significance 885201 16:55530925-55530925 16:55497013-55497013

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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