MONA
MCID: MLT065
MIFTS: 43

Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Multicentric Osteolysis, Nodulosis, and Arthropathy

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

Name: Multicentric Osteolysis, Nodulosis, and Arthropathy 57 42 73 28 5
Torg-Winchester Syndrome 24 42 73 12 71
Torg Syndrome 57 24 42 73
Nao Syndrome 57 42 73 53
Nodulosis-Arthropathy-Osteolysis Syndrome 57 42 73
Al-Aqeel Sewairi Syndrome 57 42 73
Mona 57 42 73
Hereditary Multicentric Osteolysis 42 73
Osteolysis, Multicentric, Nodulosis, and Arthropathy 38
Multicentric Osteolysis, Nodulosis and Arthropathy 19
Multicentric Osteolysis Nodulosis and Arthropathy 24
Osteolysis, Hereditary Multicentric 57
Torg-Winchester Syndrome, Formerly 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
abnormal gait


Classifications:



Summaries for Multicentric Osteolysis, Nodulosis, and Arthropathy

MedlinePlus Genetics: 42 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."

MalaCards based summary: Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis 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, skin and eye, and related phenotypes are gait disturbance and coarse facial features

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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 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 winchester syndrome 31.8 MMP2 LPCAT2
2 multicentric carpotarsal osteolysis syndrome 11.3
3 arthropathy 10.8
4 osteoarthritis 10.8
5 osteochondrodysplasia 10.5
6 juvenile rheumatoid arthritis 10.4
7 scoliosis 10.3
8 bone disease 10.3
9 ankylosis 10.3
10 systemic scleroderma 10.3
11 exophthalmos 10.3
12 multicentric osteolysis-nodulosis-arthropathy spectrum 10.3

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:

30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 30 Very rare (1%) HP:0001288
2 coarse facial features 30 Very rare (1%) HP:0000280
3 corneal opacity 30 Very rare (1%) HP:0007957
4 gingival overgrowth 30 Very rare (1%) HP:0000212
5 mitral valve prolapse 30 Very rare (1%) HP:0001634
6 kyphoscoliosis 30 Very rare (1%) HP:0002751
7 subcutaneous nodule 30 Very rare (1%) HP:0001482
8 arthralgia 30 Very rare (1%) HP:0002829
9 bulbous nose 30 Very rare (1%) HP:0000414
10 interphalangeal joint contracture of finger 30 Very rare (1%) HP:0001220
11 hirsutism 30 Very rare (1%) HP:0001007
12 broad metatarsal 30 Very rare (1%) HP:0001783
13 carpal osteolysis 30 Very rare (1%) HP:0001495
14 metacarpal osteolysis 30 Very rare (1%) HP:0001504
15 metaphyseal widening 30 Very rare (1%) HP:0003016
16 interphalangeal joint erosions 30 Very rare (1%) HP:0006252
17 broad metacarpals 30 Very rare (1%) HP:0001230
18 thin bony cortex 30 Very rare (1%) HP:0002753
19 wide cranial sutures 30 Very rare (1%) HP:0010537
20 thin metacarpal cortices 30 Very rare (1%) HP:0006086
21 thin metatarsal cortices 30 Very rare (1%) HP:0008078
22 osteolysis involving tarsal bones 30 Very rare (1%) HP:0006234
23 c1-c2 subluxation 30 Very rare (1%) HP:0003320
24 metatarsal osteolysis 30 Very rare (1%) HP:0001473
25 widened metacarpal shaft 30 Very rare (1%) HP:0006012
26 frontal bossing 30 HP:0002007
27 osteopenia 30 HP:0000938
28 hypertelorism 30 HP:0000316
29 pes planus 30 HP:0001763
30 short stature 30 HP:0004322
31 brachycephaly 30 HP:0000248
32 osteoporosis 30 HP:0000939
33 micrognathia 30 HP:0000347
34 protrusio acetabuli 30 HP:0003179
35 delayed eruption of teeth 30 HP:0000684
36 proptosis 30 HP:0000520
37 split hand 30 HP:0001171
38 pes cavus 30 HP:0001761
39 hypermelanotic macule 30 HP:0001034
40 narrow nasal bridge 30 HP:0000446
41 wrist flexion contracture 30 HP:0001239
42 hip contracture 30 HP:0003273
43 hypoplasia of the maxilla 30 HP:0000327
44 thickened skin 30 HP:0001072
45 ankle flexion contracture 30 HP:0006466
46 camptodactyly of toe 30 HP:0001836
47 delayed closure of the anterior fontanelle 30 HP:0001476
48 antinuclear antibody positivity 30 HP:0003493
49 finger swelling 30 HP:0025131
50 sclerotic cranial sutures 30 HP:0005441

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skeletal Feet:
pes planus
pes cavus
interphalangeal joint erosions
thin metatarsal cortices
tarsal osteolysis
more
Skeletal Hands:
carpal osteolysis
interphalangeal joint erosions
thin metacarpal cortices
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 24-Oct-2022)

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
Pamidronic acid 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 Back Pain in Preclinical and Clinical Medical Students at The University of the West Indies, Mona, Jamaica Unknown status NCT03707288
3 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
4 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
5 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
6 Evaluation of the Valiant Mona LSA Thoracic Stent Graft System in Descending Thoracic Aortic Aneurysms and Chronic Dissections Active, not recruiting NCT02365467
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 28 MMP2

Anatomical Context for Multicentric Osteolysis, Nodulosis, and Arthropathy

Organs/tissues related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

MalaCards : Bone, Skin, Eye, Heart, Cortex, Prostate, Liver

Publications for Multicentric Osteolysis, Nodulosis, and Arthropathy

Articles related to Multicentric Osteolysis, Nodulosis, and Arthropathy:

(show top 50) (show all 475)
# Title Authors PMID Year
1
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 62 24 57 5
17059372 2007
2
A novel homozygous MMP2 mutation in a family with Winchester syndrome. 53 24 57 5
16542393 2006
3
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 62 24 57 5
15691365 2005
4
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 24 57 5
11431697 2001
5
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. 62 24 57
17400654 2007
6
New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. 62 24 57
10861675 2000
7
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. 57 5
2625626 1989
8
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 24 57
22922033 2012
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. 62 57
15756348 2005
10
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. 62 57
10861676 2000
11
Torg osteolysis syndrome. 62 57
9843039 1998
12
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 62 57
5795345 1969
13
Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations. 62 24
34307793 2021
14
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 62 24
31268248 2019
15
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 62 24
31218820 2019
16
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. 62 24
27687687 2016
17
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. 62 24
26601801 2016
18
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. 62 24
25273674 2014
19
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. 62 24
24637309 2014
20
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. 62 24
23900523 2013
21
A report of three patients with MMP2 associated hereditary osteolysis. 62 24
22876575 2012
22
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 62 24
20720557 2010
23
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 62 24
19653001 2010
24
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. 62 24
18985071 2009
25
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. 62 24
17351352 2007
26
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
27
Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 5
10356396 1999
28
An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 5
6525336 1984
29
[Familial multicentric osteolysis with recessive transmission. Four cases in a family (author's transl)]. 57
7325547 1981
30
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. 57
4238825 1969
31
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
32
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
33
Mutation in MMP2 gene may result in scleroderma-like skin thickening. 24
26420579 2016
34
Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy. 53 62
17563705 2007
35
Flavonoids and phenylethanoids from the flowers and leaves of Aeschynanthus species and cultivars (Gesneriaceae). 62
36002075 2022
36
Phylogenomics and historical biogeography of West Indian Rock Iguanas (genus Cyclura). 62
35690377 2022
37
Cognitive enrichment in a social setting: assessing the use of a novel food maze in sanctuary-housed chimpanzees. 62
35849205 2022
38
Continuation rates of two different-sized copper intrauterine devices among nulliparous women: Interim 12-month results of a single-blind, randomised, multicentre trial. 62
35865736 2022
39
Acute kidney injury following cardiopulmonary bypass in Jamaica. 62
36172431 2022
40
Clinician's Corner: Counseling Patients with Pulmonary Vascular Disease Traveling to High Altitude. 62
35852848 2022
41
Applicability of endovascular branched and fenestrated aortic arch repair devices to treat residual type A dissection after ascending replacement. 62
36028159 2022
42
MetEx: A Targeted Extraction Strategy for Improving the Coverage and Accuracy of Metabolite Annotation in Liquid Chromatography-High-Resolution Mass Spectrometry Data. 62
35670335 2022
43
Convolutional Neural Network-Based Compound Fingerprint Prediction for Metabolite Annotation. 62
35888729 2022
44
Erratum: From Cells to Cell-Free Protein Synthesis within 24 Hours using Cell-Free Autoinduction Workflow. 62
35604349 2022
45
Retraction. 62
35416281 2022
46
Translation as a political action: reframing 'the deal of the century' in the translations of the BBC. 62
35146165 2022
47
Multifunctional Cellular Targeting, Molecular Delivery, and Imaging by Integrated Mesoporous-Silica with Optical Nanocrescent Antenna: MONA. 62
35041396 2022
48
Acyl-CoA Identification in Mouse Liver Samples Using the In Silico CoA-Blast Tandem Mass Spectral Library. 62
35119811 2022
49
HIV-2/SIV Vpx antagonises NF-κB activation by targeting p65. 62
35073912 2022
50
Physiological and Transcriptome Indicators of Salt Tolerance in Wild and Cultivated Barley. 62
35498693 2022

Variations for Multicentric Osteolysis, Nodulosis, and Arthropathy

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

5 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP2 NM_004530.6(MMP2):c.302G>A (p.Arg101His) SNV Pathogenic
17108 rs121912953 GRCh37: 16:55516969-55516969
GRCh38: 16:55483057-55483057
2 MMP2 NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) SNV Pathogenic
17110 rs121912955 GRCh37: 16:55525742-55525742
GRCh38: 16:55491830-55491830
3 MMP2 NM_004530.6(MMP2):c.1357del (p.Gly454fs) DEL Pathogenic
17112 rs1567378779 GRCh37: 16:55527089-55527089
GRCh38: 16:55493177-55493177
4 LPCAT2 NM_017839.5(LPCAT2):c.172-6188G>A SNV Pathogenic
625853 rs1567390809 GRCh37: 16:55553232-55553232
GRCh38: 16:55519320-55519320
5 MMP2 NM_004530.6(MMP2):c.1287del (p.Asn430fs) DEL Pathogenic
198809 rs794727916 GRCh37: 16:55525819-55525819
GRCh38: 16:55491907-55491907
6 MMP2 NM_004530.6(MMP2):c.1289del (p.Asn430fs) DEL Pathogenic
1323283 GRCh37: 16:55525820-55525820
GRCh38: 16:55491908-55491908
7 MMP2 NM_004530.6(MMP2):c.910_916del (p.Ser304fs) DEL Pathogenic
1332689 GRCh37: 16:55522532-55522538
GRCh38: 16:55488620-55488626
8 MMP2 NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) SNV Pathogenic
915430 rs1962580119 GRCh37: 16:55532239-55532239
GRCh38: 16:55498327-55498327
9 MMP2 NM_004530.6(MMP2):c.691G>T (p.Glu231Ter) SNV Pathogenic
1685950 GRCh37: 16:55519548-55519548
GRCh38: 16:55485636-55485636
10 MMP2 NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) SNV Pathogenic
17109 rs121912954 GRCh37: 16:55519589-55519589
GRCh38: 16:55485677-55485677
11 MMP2 NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) SNV Pathogenic
1332865 GRCh37: 16:55519646-55519646
GRCh38: 16:55485734-55485734
12 MMP2 NM_004530.6(MMP2):c.301C>T (p.Arg101Cys) SNV Pathogenic
1341994 GRCh37: 16:55516968-55516968
GRCh38: 16:55483056-55483056
13 MMP2 NM_004530.6(MMP2):c.1199_1201del (p.Val400del) DEL Pathogenic
17111 GRCh37: 16:55525730-55525732
GRCh38: 16:55491818-55491820
14 MMP2 NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) SNV Likely Pathogenic
1332856 GRCh37: 16:55516973-55516973
GRCh38: 16:55483061-55483061
15 MMP2 NM_004530.6(MMP2):c.529G>A (p.Glu177Lys) SNV Likely Pathogenic
1299550 GRCh37: 16:55518076-55518076
GRCh38: 16:55484164-55484164
16 MMP2 NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del) MICROSAT Likely Pathogenic
1299551 GRCh37: 16:55527187-55527189
GRCh38: 16:55493275-55493277
17 MMP2 NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe) SNV Uncertain Significance
1301666 GRCh37: 16:55523569-55523569
GRCh38: 16:55489657-55489657
18 MMP2 NM_004530.6(MMP2):c.*930C>T SNV Uncertain Significance
319785 rs886052130 GRCh37: 16:55540284-55540284
GRCh38: 16:55506372-55506372
19 MMP2 NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) SNV Uncertain Significance
1332696 GRCh37: 16:55525761-55525761
GRCh38: 16:55491849-55491849
20 MMP2 NM_004530.6(MMP2):c.1627T>C (p.Tyr543His) SNV Uncertain Significance
885202 rs369441378 GRCh37: 16:55532218-55532218
GRCh38: 16:55498306-55498306
21 MMP2 NM_004530.6(MMP2):c.*642T>C SNV Uncertain Significance
885268 rs771470902 GRCh37: 16:55539996-55539996
GRCh38: 16:55506084-55506084
22 MMP2 NM_004530.6(MMP2):c.887G>A (p.Arg296His) SNV Uncertain Significance
886042 rs200786490 GRCh37: 16:55522509-55522509
GRCh38: 16:55488597-55488597
23 MMP2 NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr) SNV Uncertain Significance
886043 rs778881275 GRCh37: 16:55522512-55522512
GRCh38: 16:55488600-55488600
24 MMP2 NM_004530.6(MMP2):c.920C>T (p.Thr307Ile) SNV Uncertain Significance
886044 rs1962320231 GRCh37: 16:55522542-55522542
GRCh38: 16:55488630-55488630
25 MMP2 NM_004530.6(MMP2):c.*799G>A SNV Uncertain Significance
886161 rs112093666 GRCh37: 16:55540153-55540153
GRCh38: 16:55506241-55506241
26 MMP2 NM_004530.6(MMP2):c.*1012T>A SNV Uncertain Significance
886162 rs1447267044 GRCh37: 16:55540366-55540366
GRCh38: 16:55506454-55506454
27 MMP2 NM_004530.6(MMP2):c.*1029G>A SNV Uncertain Significance
886163 rs1962804370 GRCh37: 16:55540383-55540383
GRCh38: 16:55506471-55506471
28 MMP2 NM_004530.6(MMP2):c.*1048C>T SNV Uncertain Significance
886164 rs776889997 GRCh37: 16:55540402-55540402
GRCh38: 16:55506490-55506490
29 MMP2 NM_004530.6(MMP2):c.-147T>A SNV Uncertain Significance
886975 rs1186958598 GRCh37: 16:55513245-55513245
GRCh38: 16:55479333-55479333
30 MMP2 NM_004530.6(MMP2):c.969C>T (p.Tyr323=) SNV Uncertain Significance
887036 rs561800947 GRCh37: 16:55522591-55522591
GRCh38: 16:55488679-55488679
31 MMP2 NM_004530.6(MMP2):c.*43G>A SNV Uncertain Significance
887103 rs751617004 GRCh37: 16:55539397-55539397
GRCh38: 16:55505485-55505485
32 MMP2 NM_004530.6(MMP2):c.*1204A>G SNV Uncertain Significance
Uncertain Significance
887176 rs758075499 GRCh37: 16:55540558-55540558
GRCh38: 16:55506646-55506646
33 MMP2 NM_004530.6(MMP2):c.115G>A (p.Gly39Ser) SNV Uncertain Significance
888243 rs1392610505 GRCh37: 16:55513506-55513506
GRCh38: 16:55479594-55479594
34 MMP2 NM_004530.6(MMP2):c.1276A>C (p.Thr426Pro) SNV Uncertain Significance
888305 rs1962415193 GRCh37: 16:55525808-55525808
GRCh38: 16:55491896-55491896
35 MMP2 NM_004530.6(MMP2):c.1493C>T (p.Thr498Met) SNV Uncertain Significance
888307 rs764961297 GRCh37: 16:55530858-55530858
GRCh38: 16:55496946-55496946
36 MMP2 NM_004530.6(MMP2):c.*250C>T SNV Uncertain Significance
888372 rs776083935 GRCh37: 16:55539604-55539604
GRCh38: 16:55505692-55505692
37 MMP2 NM_004530.6(MMP2):c.*277G>A SNV Uncertain Significance
888373 rs185162550 GRCh37: 16:55539631-55539631
GRCh38: 16:55505719-55505719
38 MMP2 NM_004530.6(MMP2):c.628G>T (p.Asp210Tyr) SNV Uncertain Significance
1029860 rs1230286710 GRCh37: 16:55519309-55519309
GRCh38: 16:55485397-55485397
39 MMP2 NM_004530.6(MMP2):c.380+6G>A SNV Uncertain Significance
1032226 rs373244203 GRCh37: 16:55517053-55517053
GRCh38: 16:55483141-55483141
40 MMP2 NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) SNV Uncertain Significance
690375 rs1596807866 GRCh37: 16:55517044-55517044
GRCh38: 16:55483132-55483132
41 MMP2 NM_004530.6(MMP2):c.153+12C>T SNV Uncertain Significance
885134 rs750653987 GRCh37: 16:55513556-55513556
GRCh38: 16:55479644-55479644
42 MMP2 NM_004530.6(MMP2):c.344G>T (p.Arg115Leu) SNV Uncertain Significance
885136 rs112710941 GRCh37: 16:55517011-55517011
GRCh38: 16:55483099-55483099
43 MMP2 NM_004530.6(MMP2):c.474G>A (p.Arg158=) SNV Uncertain Significance
885137 rs144932826 GRCh37: 16:55518021-55518021
GRCh38: 16:55484109-55484109
44 MMP2 NM_004530.6(MMP2):c.1560T>C (p.Ile520=) SNV Uncertain Significance
885201 rs137912216 GRCh37: 16:55530925-55530925
GRCh38: 16:55497013-55497013
45 MMP2 NM_004530.6(MMP2):c.1685C>T (p.Pro562Leu) SNV Uncertain Significance
885204 rs370764157 GRCh37: 16:55532276-55532276
GRCh38: 16:55498364-55498364
46 MMP2 NM_004530.6(MMP2):c.*505T>G SNV Uncertain Significance
885266 rs780960741 GRCh37: 16:55539859-55539859
GRCh38: 16:55505947-55505947
47 MMP2 NM_004530.6(MMP2):c.658+13C>T SNV Uncertain Significance
319749 rs768031015 GRCh37: 16:55519352-55519352
GRCh38: 16:55485440-55485440
48 MMP2 NM_004530.6(MMP2):c.1144G>A (p.Asp382Asn) SNV Uncertain Significance
319755 rs555030156 GRCh37: 16:55523700-55523700
GRCh38: 16:55489788-55489788
49 MMP2 NM_004530.6(MMP2):c.*132T>A SNV Uncertain Significance
319771 rs55926431 GRCh37: 16:55539486-55539486
GRCh38: 16:55505574-55505574
50 MMP2 NM_004530.6(MMP2):c.-201C>G SNV Uncertain Significance
319741 rs886052124 GRCh37: 16:55513191-55513191
GRCh38: 16:55479279-55479279

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

2 CDC
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16 EFO
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