MCTO
MCID: MLT092
MIFTS: 61

Multicentric Carpotarsal Osteolysis Syndrome (MCTO)

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

Aliases & Classifications for Multicentric Carpotarsal Osteolysis Syndrome

MalaCards integrated aliases for Multicentric Carpotarsal Osteolysis Syndrome:

Name: Multicentric Carpotarsal Osteolysis Syndrome 56 12 52 73 36 13
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy 56 43 71
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 12 52 58
Idiopathic Multicentric Osteolysis with or Without Nephropathy 12 52 58
Multicentric Osteolysis Nephropathy 12 29 6
Mcto 56 12 73
Hereditary Osteolysis of Carpal Bones with or Without Nephropathy 12 73
Autosomal Dominant Multicentric Osteolysis 12 73
Osteolysis 43 32
Syndrome, Osteolysis, Carpotarsal, Multicentric 39
Multicentric Osteolysis, Autosomal Dominant 56
Lytic Lesion 71

Characteristics:

Orphanet epidemiological data:

58
multicentric carpo-tarsal osteolysis with or without nephropathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy-early childhood


HPO:

31
multicentric carpotarsal osteolysis syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Multicentric Carpotarsal Osteolysis Syndrome

KEGG : 36 Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal bones. The early clinical appearance can mimic polyarticular juvenile idiopathic arthritis; however, subsequent clinical and radiographic appearances are characteristic. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients.

MalaCards based summary : Multicentric Carpotarsal Osteolysis Syndrome, also known as osteolysis, hereditary, of carpal bones with or without nephropathy, is related to familial expansile osteolysis and osteonecrosis, and has symptoms including wrist pain and ankle pain. An important gene associated with Multicentric Carpotarsal Osteolysis Syndrome is MAFB (MAF BZIP Transcription Factor B), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TRAF Pathway. The drugs Nootropic Agents and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and kidney, and related phenotypes are gait disturbance and micrognathia

Disease Ontology : 12 An autosomal dominant disease characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has material basis in heterozygous mutation in MAFB on chromosome 20q12.

NIH Rare Diseases : 52 Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some patients also have intellectual disability and facial abnormalities. It is caused by mutations in the MAFB gene . Autosomal dominant inheritance has been described in many families but most cases are sporadic . Treatment is with long-term immunosuppressive therapy .

OMIM : 56 Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome. (166300)

UniProtKB/Swiss-Prot : 73 Multicentric carpotarsal osteolysis syndrome: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients.

Wikipedia : 74 Multicentric carpotarsal osteolysis syndrome is a rare autosomal dominant condition. This condition is... more...

Related Diseases for Multicentric Carpotarsal Osteolysis Syndrome

Diseases related to Multicentric Carpotarsal Osteolysis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 461)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 33.6 TNFSF11 TNFRSF11B TNFRSF11A
2 osteonecrosis 29.8 TNFSF11 TNFRSF11B BGLAP
3 osteoarthritis 29.7 TNFSF11 TNFRSF11B BGLAP
4 arthropathy 29.7 TNFSF11 TNFRSF11B TNFRSF11A
5 fibrous dysplasia 29.7 PTHLH BGLAP
6 arthritis 29.7 TNFSF11 TNFRSF11A CCL3
7 periostitis 29.7 TNFRSF11B TNFRSF11A
8 ankylosis 29.7 TNFRSF11B BGLAP
9 cholesteatoma of middle ear 29.6 TNFSF11 TNFRSF11B
10 bone resorption disease 29.5 TNFSF11 TNFRSF11B TNFRSF11A PTHLH BGLAP
11 bone giant cell tumor 29.5 TNFSF11 TNFRSF11B TNFRSF11A
12 pseudohypoparathyroidism 29.4 PTHLH BGLAP
13 glucocorticoid-induced osteoporosis 29.4 TNFSF11 TNFRSF11B BGLAP
14 osteogenic sarcoma 29.4 TNFSF11 TNFRSF11B PTHLH BGLAP
15 spondyloarthropathy 1 29.4 TNFSF11 TNFRSF11B BGLAP
16 hyperphosphatemia 29.4 TNFRSF11B BGLAP
17 bone cancer 29.3 TNFSF11 TNFRSF11B TNFRSF11A
18 connective tissue disease 29.3 TNFSF11 TNFRSF11B BGLAP
19 osteomalacia 29.3 TNFSF11 PTHLH BGLAP
20 hypophosphatemia 29.2 PTHLH BGLAP
21 mccune-albright syndrome 29.2 PTHLH BGLAP
22 hyperparathyroidism 29.2 TNFSF11 TNFRSF11B PTHLH BGLAP
23 mammary paget's disease 29.2 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
24 renal osteodystrophy 29.2 TNFSF11 TNFRSF11B BGLAP
25 root resorption 29.2 TNFSF11 TNFRSF11B TNFRSF11A
26 sclerosteosis 29.1 TNFSF11 TNFRSF11B BGLAP
27 parathyroid adenoma 29.1 PTHLH BGLAP
28 primary hyperparathyroidism 28.9 TNFSF11 TNFRSF11B PTHLH BGLAP
29 osteopetrosis 28.9 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
30 giant cell tumor 28.8 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
31 periodontitis 28.8 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
32 osteoporosis 28.8 TNFSF11 TNFRSF11B TNFRSF11A PTHLH BGLAP
33 scoliosis 28.7 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
34 myeloma, multiple 28.6 TNFSF11 TNFRSF11B PTHLH MAFB CCL3 BGLAP
35 paget's disease of bone 28.0 TNFSF11 TNFRSF11B TNFRSF11A PTHLH BGLAP
36 bone disease 27.8 TNFSF11 TNFRSF11B TNFRSF11A PTHLH CCL3 BGLAP
37 rheumatoid arthritis 27.2 TNFSF11 TNFRSF11B TNFRSF11A MAFB CCL3 BGLAP
38 multicentric osteolysis, nodulosis, and arthropathy 12.8
39 osteolysis syndrome, recessive 12.5
40 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.4
41 hajdu-cheney syndrome 12.4
42 multicentric osteolysis-nodulosis-arthropathy spectrum 12.3
43 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals 12.3
44 osebold skeletal dysplasia/osteolysis syndrome 12.3
45 idiopathic phalangeal acro-osteolysis 12.3
46 primary osteolysis 12.3
47 gorham's disease 12.2
48 carpo tarsal osteolysis recessive 12.1
49 nestor-guillermo progeria syndrome 12.0
50 premature aging syndrome, penttinen type 11.9

Graphical network of the top 20 diseases related to Multicentric Carpotarsal Osteolysis Syndrome:



Diseases related to Multicentric Carpotarsal Osteolysis Syndrome

Symptoms & Phenotypes for Multicentric Carpotarsal Osteolysis Syndrome

Human phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
6 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
7 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
8 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
9 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
10 wrist swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001225
11 carpal osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001495
12 metacarpal osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001504
13 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
14 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
15 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
16 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
17 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
18 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
19 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
20 hypertension 31 HP:0000822
21 osteopenia 31 HP:0000938
22 renal insufficiency 31 HP:0000083
23 arthralgia 31 HP:0002829
24 osteolysis 58 Very frequent (99-80%)
25 pes cavus 31 HP:0001761
26 hypoplasia of the maxilla 31 HP:0000327
27 abnormality of the wrist 58 Very frequent (99-80%)
28 ulnar deviation of the hand 31 HP:0009487
29 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
30 ankle swelling 31 HP:0001785
31 osteolysis involving tarsal bones 31 HP:0006234
32 metatarsal osteolysis 31 HP:0001473

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
hypertension
nephropathy
renal failure

Head And Neck Face:
micrognathia
maxillary hypoplasia

Skeletal Feet:
pes cavus
ankle swelling
metatarsal osteolysis
ankle arthralgia
tarsal bone osteolysis

Muscle Soft Tissue:
wrist swelling
ankle swelling

Skeletal:
osteopenia

Laboratory Abnormalities:
proteinuria

Skeletal Hands:
wrist swelling
metacarpal osteolysis
ulnar deviation of hands
wrist arthralgia
carpal bone osteolysis

Head And Neck Eyes:
exophthalmos

Clinical features from OMIM:

166300

UMLS symptoms related to Multicentric Carpotarsal Osteolysis Syndrome:


wrist pain, ankle pain

MGI Mouse Phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
2 limbs/digits/tail MP:0005371 9.26 PTHLH TNFRSF11A TNFRSF11B TNFSF11
3 skeleton MP:0005390 9.02 MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11

Drugs & Therapeutics for Multicentric Carpotarsal Osteolysis Syndrome

Drugs for Multicentric Carpotarsal Osteolysis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nootropic Agents Phase 4
2 Cholinergic Agents Phase 4
3 Cholinesterase Inhibitors Phase 4
4 Autonomic Agents Phase 4
5 Imatinib Mesylate Phase 4 220127-57-1 123596
6
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Diphosphonates Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Antineoplastic Agents, Hormonal Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3
16 Anti-Inflammatory Agents Phase 2, Phase 3
17 glucocorticoids Phase 2, Phase 3
18 Antiemetics Phase 2, Phase 3
19 Methylprednisolone Acetate Phase 2, Phase 3
20 Neuroprotective Agents Phase 2, Phase 3
21 Aromatase Inhibitors Phase 3
22
Sorbitol Approved Phase 2 50-70-4 5780
23
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
24
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
25
Clodronate Approved, Investigational, Vet_approved Phase 2 10596-23-3 25419
26
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
27
Simvastatin Approved Phase 2 79902-63-9 54454
28
Denosumab Approved Phase 2 615258-40-7
29
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
30
Zoledronic Acid Approved Phase 1, Phase 2 118072-93-8 68740
31
Melphalan Approved Phase 2 148-82-3 4053 460612
32
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
33
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
34
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
35
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
36 Calcium, Dietary Phase 2
37 Estrogens Phase 2
38 Estrogen Antagonists Phase 2
39 Estrogen Receptor Antagonists Phase 2
40 Hypolipidemic Agents Phase 2
41 Anticholesteremic Agents Phase 2
42 Antimetabolites Phase 2
43 Lipid Regulating Agents Phase 2
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
45 Antibodies, Monoclonal Phase 2
46 Antibodies Phase 2
47 Immunoglobulins Phase 2
48 Antihypertensive Agents Phase 2
49 Pharmaceutical Solutions Phase 1, Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 Do We Need High-Flexing Total Knee Arthroplasty to Improve the Survivorship and to Decrease the Incidence of Osteolysis? A Minimum of Ten Years of Follow-up Completed NCT01422642 Phase 4
2 Comparison of Ceramic-on-Ceramic and Ceramic-on-Highly-Cross-Linked Polyethylene Bearings in Primary Cementless Total Hip Arthroplasty in the Same Patients Completed NCT01806766 Phase 4
3 A Comparison of Two Total Hip Replacements: Hip Resurfacing System Versus Mallory-Head/Exeter Completed NCT00116948 Phase 4
4 Bone Remodeling Around HA-coated Acetabular Cups. Completed NCT00159497 Phase 4
5 Is Ceramic-on-Ceramic THA Superior to Ceramic-on-Highly Cross-Linked Polyethylene THA in Patients Less Than 55 Years Old? Completed NCT03639532 Phase 4
6 Randomized Clinical Evaluation of Bone Mineral Density Changes Under Non-cemented Trabecular Metal Tibial Component and Cemented Titanium Controls. Completed NCT01764984 Phase 4
7 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
8 Magnolia Study Prolonged Protection From Bone Disease in Multiple Myeloma. An Open Label Phase 3 Multicenter International Randomised Trial Recruiting NCT02286830 Phase 4 Zoledronic acid
9 Durom(R) Hip Resurfacing System Multicenter Trial Completed NCT00746616 Phase 3
10 Zoledronic Acid or Methylprednisolone in the Management of Active Charcot's Neuroarthropathy of Foot in Patients With Diabetes Mellitus: A Randomized, Double-blind, Placebo Controlled Trial Completed NCT03289338 Phase 2, Phase 3 Zoledronic Acid;Methylprednisolone;Placebos
11 Single Dosing of Zoledronic Acid in Cancer Therapy Induced Bone Loss (CTIBL) Completed NCT00712985 Phase 3 Zometa
12 Pilot Study to Evaluate the Impact of Denosumab on Disseminated Tumor Cells (DTC) in Patients With Early Stage Breast Cancer Unknown status NCT01545648 Phase 2 Denosumab
13 To Study the Efficacy of Teriparatide in Improving Remodeling of Foot Bones in Chronic Charcot Neuroarthropathy in Patients With Diabetes Mellitus. Unknown status NCT02023411 Phase 2 Teriparatide
14 A Prospective Double-Blinded Clinical Trial Using Apatone®B for Care and Treatment of Proven Non-Infected Symptomatic Postoperative Total Joint Arthroplasties Completed NCT01272830 Phase 2 Placebo;Apatone®B
15 Functional Outcome Comparison of Implant-Free Bone-Patellar Tendon Autografts Using Press-Fit Fixation Technique and Hamstring Autografts Using Implant in Arthroscopic Anterior Cruciate Ligament Reconstruction: A Prospective Study Completed NCT04123834 Phase 1, Phase 2
16 Clinical Trial on the Zirconia Femoral Component for the Gem Total Knee System Completed NCT00743717 Phase 2
17 A Phase II, Multi-Centre, Randomized, Double-blind Trial to Evaluate the Therapeutic Benefit of Fulvestrant in Combination With ZACTIMA or Fulvestrant Plus Placebo in Postmenopausal Women With Bone Only or Bone Predominant, Hormone Receptor Positive Metastatic Breast Cancer Completed NCT00811369 Phase 2 Fulvestrant + ZACTIMA;Fulvestrant + Placebo
18 Bisphosphonates and Impaction Grafting in Hip Revision Evaluated With Radiostereophotogrametri. A Randomized, Double-blind Study in Patients Operated for Aseptic Loosening and Osteolysis. Completed NCT00658268 Phase 2 Clodronate;Placebo
19 A Phase II Study of the c-Met Inhibitor ARQ 197 in Patients With Relapsed, or Relapsed and Refractory Multiple Myeloma Completed NCT01447914 Phase 2 Tivantinib
20 Determination of the Efficacy and Feasibility of Simvastatin as Inhibitor of Cell Adhesion Mediated Drug Resistance in Patients With Refractory Multiple Myeloma – a Phase II Clinical Trial. Completed NCT00399867 Phase 2 Simvastatin
21 A Phase II Pilot Study of Avelumab in Combination With Hypofractionated Radiotherapy in Patients With Relapsed Refractory Multiple Myeloma Recruiting NCT03910439 Phase 2
22 Denosumab for Treating Periprosthetic Osteolysis After Uncemented Total Hip Arthroplasty A Randomized, Double-blind, Placebo-controlled Trial Using Volumetric Computed Tomography Active, not recruiting NCT02299817 Phase 2 Denosumab;Placebo
23 Effect of Denosumab on Inflammatory Osteolytic Lesion Activity in Total Hip Active, not recruiting NCT01358669 Phase 2 Denosumab
24 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Active, not recruiting NCT02663895 Phase 2 Oral treprostinil
25 Adjuvant Zoledronic Acid in 'High Risk' Giant Cell Tumour of Bone (GCT) - A Randomized Phase II Study Terminated NCT00889590 Phase 2 Zoledronic acid
26 A Multicenter, Open-label, Phase Ii Study of Dasatinib in Combination With Melphalan and Prednisone (D-MP) in Advanced, Relapsed / Refractory Multiple Myeloma Patients Terminated NCT01116128 Phase 2 dasatinib;melphalan;prednisone
27 Phase 2 Study of the Effect of Zoledronate on Local Recurrence After Surgical Treatment of Giant Cell Tumors of Bone Terminated NCT01564121 Phase 1, Phase 2 acid Zoledronic
28 A Study of ARRY-382 in Patients With Selected Advanced or Metastatic Cancers Completed NCT01316822 Phase 1 ARRY-382, cFMS inhibitor; oral
29 Migration Pattern of C-stem AMT Versus Exeter in Total Hip Arthroplasty Unknown status NCT00722982
30 Comparative Study of the Wear of Uncemented Acetabular Conventional Polyethylene and X3 in Total Hip Replacement, for Stereo-radiographic Analysis Unknown status NCT02525770
31 Prospective, Randomized Study of Highly-cross Linked Polyethylene vs. Compression Molded Polyethylene for Primary Posterior-stabilized Total Knee Arthroplasty Unknown status NCT02178020
32 Serum Level of Cobalt and Chromium After Ceramic on Metal Articulation Total Hip Arthroplasty Unknown status NCT02346513
33 Prospective Clinical Study Evaluating Tibiofemoral Rotational Alignment Using Intraoperative Sensing During Total Knee Arthroplasty Unknown status NCT02286739
34 Treatment of Unstable Distal Clavicular Fractures (Neer 2b): Hook Plate vs Locking Plate Unknown status NCT01555372
35 Osteolysis Development Over Time Around Uncemented Titanium Fiber Mesh Cups With or Without Screw Holes Completed NCT03692351
36 CT for Diagnosis of Implant Stability in Revision Arthroplasty Completed NCT00367289
37 A Prospective Clinical Study On A Total Hip Resurfacing System Completed NCT00604734
38 A Five-Year Metal-on-Metal Retrospective Clinical Study Completed NCT01481896
39 Comparison of Highly Cross-Linked and Conventional Polyethylene in Posterior Cruciate-Substituting Total Knee Arthroplasty in the Same Patients Completed NCT02020057
40 BONA (Adherence of Patients to Bonefos Therapy). Prospective Observational Non-interventional Study of Adherence of Patients to Bonefos Medication in Relation to Analgesic Effect and Incidence of Skeletal Events Completed NCT01198457 Clodronate (Bonefos, BAY94-8393)
41 Scan Evaluation at 9 Years of the Bone Acetabular Supporting Cups Without Cement (Couple Metal/Metal in Diameter 28 mm) Completed NCT01349179
42 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
43 A Prospective, Randomized Clinical Study Comparing Marathon Polyethylene and Enduron Polyethylene Acetabular Liners Used in Total Hip Arthroplasty Completed NCT01121146
44 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
45 Is There Increased Polyethylene Wear and Increased Periprosthetic Bone Loss in Femur in Reverse Hybrid Technique Compared With Conventional Cemented Technique in Total Hip Replacement? Completed NCT00526539
46 Short-Term Clinical Outcome Including Dislocation Rate and Ceramic Fracture of Total Hip Arthroplasty Using Larger Diameter of 4th Generation Ceramic Bearing Completed NCT01103882
47 Vitamin E Stabilized Highly Cross-linked Polyethylene in Reversed Hybrid Total Hip Completed NCT04126421
48 A Migration and Bone Density Study Comparing Refobacin Bone Cement R vs. Refobacin Plus Bone Cement in the OptiPac Bone Cement Mixing System. A Prospective Randomized Study on Primary Total Knee Arthroplasty Completed NCT00678236
49 A Roentgen Stereophotogrammetric Analysis and DEXA Study on Migration of Proximal Interphalangeal Joint Prostheses of the Hand. A Randomised Prospective Study of Cemented Versus Non-cemented Implants Completed NCT00175188
50 Prospective Exploratory Study:Bone Mineral Density Changes of the Acetabulum After Revision Hip Arthroplasty Using Bone Impaction Grafting Completed NCT02061904

Search NIH Clinical Center for Multicentric Carpotarsal Osteolysis Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


pamidronate
Pamidronate Disodium

Cochrane evidence based reviews: osteolysis

Genetic Tests for Multicentric Carpotarsal Osteolysis Syndrome

Genetic tests related to Multicentric Carpotarsal Osteolysis Syndrome:

# Genetic test Affiliating Genes
1 Multicentric Osteolysis Nephropathy 29 MAFB

Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

40
Bone, Breast, Kidney, Prostate, Endothelial, Thyroid, Testes

Publications for Multicentric Carpotarsal Osteolysis Syndrome

Articles related to Multicentric Carpotarsal Osteolysis Syndrome:

(show top 50) (show all 244)
# Title Authors PMID Year
1
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 61 6 56
22387013 2012
2
[Multicentric carpotarsal osteolysis in a rheumatologist's practice]. 52 61
26027247 2015
3
Carpo-tarsal osteolysis. Case report and review of the literature. 56
8471218 1993
4
Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. 56
1776642 1991
5
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 56
3041835 1988
6
Idiopathic multicentric osteolysis with facial anomalies and nephropathy. 56
3591830 1987
7
Idiopathic multicentric osteolysis with acro-osteolysis. A case report. 56
3968151 1985
8
[Essential osteolysis with carpal and tarsal onset]. 56
7183750 1982
9
Idiopathic multicentric osteolysis in a 78-year-old woman. 56
7206409 1981
10
Nephropathy of idiopathic multicentric osteolysis. 56
7360298 1980
11
Idiopathic multicentric osteolysis. Report of an affected father and son. 56
646835 1978
12
Multifocal osteolysis with nephropathy. 56
999328 1976
13
Idiopathic multicentric osteolysis. 56
175680 1976
14
Hereditary osteolysis. A clinical, radiological and chemical study. 56
4709054 1973
15
Familial osteolysis of the carpal and tarsal bones. 56
4261959 1972
16
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 56
5795345 1969
17
Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome. 56
5722853 1968
18
OSTEOARTICULAR CHANGES IN A CASE OF ESSENTIAL OSTEOLYSIS; AN ANATOMICAL AND RADIOLOGICAL STUDY. 56
14302739 1965
19
HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. 56
14114021 1964
20
[A special form of essential hereditary and familial osteolysis originating in early childhood and stabilizing spontaneously in later years]. 56
13623687 1958
21
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. 56
13263344 1955
22
A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis. 61
31770198 2019
23
Squamous cell carcinoma transformation in mature cystic teratoma of the ovary: a systematic review. 61
30866852 2019
24
Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients. 61
30369533 2019
25
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. 61
30430035 2018
26
Three cases of multicentric carpotarsal osteolysis syndrome: a case series. 61
30208859 2018
27
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. 61
29396697 2018
28
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. 61
29675035 2018
29
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian. 61
30305815 2018
30
Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis. 61
29120020 2017
31
Are the Current Classifications and Radiographic Measurements for Trochlear Dysplasia Appropriate in the Skeletally Immature Patient? 61
27826597 2016
32
Malignant transformation of mature cystic teratoma of the ovary: a case series. 61
26259384 2015
33
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. 61
24989131 2014
34
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. 61
23956186 2013
35
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 61
23670161 2013
36
Inhibition of RANKL increases the anti-tumor effect of the EGFR inhibitor panitumumab in a murine model of bone metastasis. 54
20215062 2010
37
Comparison of low-intensity pulsed ultrasound and pulsed electromagnetic field treatments on OPG and RANKL expression in human osteoblast-like cells. 54
20050743 2010
38
In vitro studies of multiwalled carbon nanotube/ultrahigh molecular weight polyethylene nanocomposites with osteoblast-like MG63 cells. 54
20490435 2010
39
Multiple myeloma: changes in serum C-terminal telopeptide of collagen type I and bone-specific alkaline phosphatase can be used in daily practice to detect imminent osteolysis. 54
20070853 2010
40
Osteopontin deficiency impairs wear debris-induced osteolysis via regulation of cytokine secretion from murine macrophages. 54
20155835 2010
41
Preclinical evidence that use of TRAIL in Ewing's sarcoma and osteosarcoma therapy inhibits tumor growth, prevents osteolysis, and increases animal survival. 54
20371692 2010
42
Effect of cytosolic phospholipase A2 on proinflammatory cytokine-induced bone resorptive genes including receptor activator of nuclear factor kappa B ligand in human dental pulp cells. 54
20307736 2010
43
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 54
19653001 2010
44
Soluble TRAIL could enhance bone destruction acting on Rank-ligand in estrogen-independent human breast cancer cell line MDA-MB-231. 54
19058836 2010
45
The roles of monocytic heat shock protein 60 and Toll-like receptors in the regional inflammation response to wear debris particles. 54
19353569 2010
46
Vitamin D deficiency promotes human breast cancer growth in a murine model of bone metastasis. 54
20160035 2010
47
Runx2 association with progression of prostate cancer in patients: mechanisms mediating bone osteolysis and osteoblastic metastatic lesions. 54
19915614 2010
48
Possible role of matrix metalloproteinase in osteolytic intracranial meningiomas. 54
20157372 2010
49
Over-expression of receptor activator of nuclear factor-kappaB ligand (RANKL), inflammatory cytokines, and chemokines in periprosthetic osteolysis of loosened total hip arthroplasty. 54
19781765 2010
50
Reply to letter by Gallo and Petrek commenting on interleukin-1 receptor antagonist and interleukin-6 polymorphisms and post-total hip arthroplasty osteolysis. 54
19950270 2009

Variations for Multicentric Carpotarsal Osteolysis Syndrome

ClinVar genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAFB NM_005461.5(MAFB):c.184A>C (p.Thr62Pro)SNV Pathogenic 30768 rs387907004 20:39317307-39317307 20:40688667-40688667
2 MAFB NM_005461.5(MAFB):c.208T>G (p.Ser70Ala)SNV Pathogenic 30769 rs387907005 20:39317283-39317283 20:40688643-40688643
3 MAFB NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)SNV Pathogenic 30770 rs387907006 20:39317282-39317282 20:40688642-40688642
4 MAFB NM_005461.5(MAFB):c.211C>T (p.Pro71Ser)SNV Pathogenic 30771 rs387907007 20:39317280-39317280 20:40688640-40688640
5 MAFB NM_005461.5(MAFB):c.212C>T (p.Pro71Leu)SNV Pathogenic 30772 rs387907008 20:39317279-39317279 20:40688639-40688639
6 MAFB NM_005461.5(MAFB):c.161C>T (p.Ser54Leu)SNV Pathogenic 30773 rs730880014 20:39317330-39317330 20:40688690-40688690
7 MAFB NM_005461.5(MAFB):c.*1212_*1213insGAGGAinsertion Uncertain significance 338389 rs886056663 20:39315306-39315307 20:40686666-40686667
8 MAFB NM_005461.5(MAFB):c.*1679C>TSNV Uncertain significance 338378 rs886056657 20:39314840-39314840 20:40686200-40686200
9 MAFB NM_005461.5(MAFB):c.*209A>CSNV Uncertain significance 338402 rs886056672 20:39316310-39316310 20:40687670-40687670
10 MAFB NM_005461.5(MAFB):c.-138G>TSNV Uncertain significance 338415 rs755784104 20:39317628-39317628 20:40688988-40688988
11 MAFB NM_005461.5(MAFB):c.*1551G>ASNV Uncertain significance 338382 rs886056660 20:39314968-39314968 20:40686328-40686328
12 MAFB NM_005461.5(MAFB):c.*976G>ASNV Uncertain significance 338392 rs886056664 20:39315543-39315543 20:40686903-40686903
13 MAFB NM_005461.5(MAFB):c.*929deldeletion Uncertain significance 338394 rs11482617 20:39315590-39315590 20:40686950-40686950
14 MAFB NM_005461.5(MAFB):c.*377G>CSNV Uncertain significance 338399 rs886056669 20:39316142-39316142 20:40687502-40687502
15 MAFB NM_005461.5(MAFB):c.*309A>TSNV Uncertain significance 338400 rs886056670 20:39316210-39316210 20:40687570-40687570
16 MAFB NM_005461.5(MAFB):c.*64C>TSNV Uncertain significance 338406 rs886056673 20:39316455-39316455 20:40687815-40687815
17 MAFB NM_005461.5(MAFB):c.525C>G (p.Ser175Arg)SNV Uncertain significance 338409 rs886056674 20:39316966-39316966 20:40688326-40688326
18 MAFB NM_005461.5(MAFB):c.189G>A (p.Pro63=)SNV Uncertain significance 338412 rs201590858 20:39317302-39317302 20:40688662-40688662
19 MAFB NM_005461.5(MAFB):c.-77C>GSNV Uncertain significance 338414 rs886056675 20:39317567-39317567 20:40688927-40688927
20 MAFB NM_005461.5(MAFB):c.-229C>TSNV Uncertain significance 338419 rs886056677 20:39317719-39317719 20:40689079-40689079
21 MAFB NM_005461.5(MAFB):c.*1751C>TSNV Uncertain significance 338376 rs886056656 20:39314768-39314768 20:40686128-40686128
22 MAFB NM_005461.5(MAFB):c.*1433A>GSNV Uncertain significance 338385 rs886056661 20:39315086-39315086 20:40686446-40686446
23 MAFB NM_005461.5(MAFB):c.*795G>TSNV Uncertain significance 338396 rs886056667 20:39315724-39315724 20:40687084-40687084
24 MAFB NM_005461.5(MAFB):c.*410G>ASNV Uncertain significance 338398 rs886056668 20:39316109-39316109 20:40687469-40687469
25 MAFB NM_005461.5(MAFB):c.*229A>GSNV Uncertain significance 338401 rs886056671 20:39316290-39316290 20:40687650-40687650
26 MAFB NM_005461.5(MAFB):c.*30C>ASNV Uncertain significance 338407 rs780982442 20:39316489-39316489 20:40687849-40687849
27 MAFB NM_005461.5(MAFB):c.*881G>TSNV Uncertain significance 338395 rs886056666 20:39315638-39315638 20:40686998-40686998
28 MAFB NM_005461.5(MAFB):c.-338A>GSNV Uncertain significance 338421 rs886056678 20:39317828-39317828 20:40689188-40689188
29 MAFB NM_005461.5(MAFB):c.*1803C>TSNV Uncertain significance 338374 rs779945829 20:39314716-39314716 20:40686076-40686076
30 MAFB NM_005461.5(MAFB):c.*1787T>CSNV Uncertain significance 338375 rs749002713 20:39314732-39314732 20:40686092-40686092
31 MAFB NM_005461.5(MAFB):c.*1226C>TSNV Uncertain significance 338388 rs886056662 20:39315293-39315293 20:40686653-40686653
32 MAFB NM_005461.5(MAFB):c.399C>T (p.His133=)SNV Uncertain significance 338410 rs762729675 20:39317092-39317092 20:40688452-40688452
33 MAFB NM_005461.5(MAFB):c.-171C>ASNV Uncertain significance 338416 rs886056676 20:39317661-39317661 20:40689021-40689021
34 MAFB NM_005461.5(MAFB):c.*1592dupduplication Uncertain significance 338379 rs3215567 20:39314927-39314927 20:40686287-40686287
35 MAFB NM_005461.5(MAFB):c.*1591T>CSNV Uncertain significance 338381 rs886056659 20:39314928-39314928 20:40686288-40686288
36 MAFB NM_005461.5(MAFB):c.*1520C>GSNV Likely benign 338383 rs148352161 20:39314999-39314999 20:40686359-40686359
37 MAFB NM_005461.5(MAFB):c.*1737A>GSNV Likely benign 338377 rs532037681 20:39314782-39314782 20:40686142-40686142
38 MAFB NM_005461.5(MAFB):c.-206T>GSNV Likely benign 338418 rs527524576 20:39317696-39317696 20:40689056-40689056
39 MAFB NM_005461.5(MAFB):c.253C>A (p.Leu85Met)SNV Likely benign 338411 rs377639854 20:39317238-39317238 20:40688598-40688598
40 MAFB NM_005461.5(MAFB):c.-204_-203deldeletion Likely benign 338417 rs201369817 20:39317693-39317694 20:40689053-40689054
41 MAFB NM_005461.5(MAFB):c.-75C>GSNV Likely benign 338413 rs574807151 20:39317565-39317565 20:40688925-40688925
42 MAFB NM_005461.5(MAFB):c.745C>A (p.Arg249=)SNV Likely benign 338408 rs561320614 20:39316746-39316746 20:40688106-40688106
43 MAFB NM_005461.5(MAFB):c.*155C>TSNV Likely benign 338403 rs533850442 20:39316364-39316364 20:40687724-40687724
44 MAFB NM_005461.5(MAFB):c.*68G>ASNV Likely benign 338405 rs190300765 20:39316451-39316451 20:40687811-40687811
45 MAFB NM_005461.5(MAFB):c.*503_*506TGTC[1]short repeat Likely benign 338397 rs201579991 20:39316009-39316012 20:40687369-40687372
46 MAFB NM_005461.5(MAFB):c.*1314A>GSNV Likely benign 338386 rs533750110 20:39315205-39315205 20:40686565-40686565
47 MAFB NM_005461.5(MAFB):c.*1255C>TSNV Likely benign 338387 rs573637366 20:39315264-39315264 20:40686624-40686624
48 MAFB NM_005461.5(MAFB):c.-310G>ASNV Likely benign 338420 rs567415398 20:39317800-39317800 20:40689160-40689160
49 MAFB NM_005461.5(MAFB):c.*152G>CSNV Likely benign 338404 rs553723079 20:39316367-39316367 20:40687727-40687727
50 MAFB NM_005461.5(MAFB):c.*1519C>GSNV Likely benign 338384 rs185930615 20:39315000-39315000 20:40686360-40686360

UniProtKB/Swiss-Prot genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MAFB p.Ser54Leu VAR_067979 rs730880014
2 MAFB p.Pro59Leu VAR_067980
3 MAFB p.Thr62Pro VAR_067981 rs387907004
4 MAFB p.Pro63Arg VAR_067982
5 MAFB p.Ser66Cys VAR_067983
6 MAFB p.Ser69Leu VAR_067984 rs155582643
7 MAFB p.Ser70Ala VAR_067985 rs387907005
8 MAFB p.Ser70Leu VAR_067986 rs387907006
9 MAFB p.Pro71Leu VAR_067987 rs387907008
10 MAFB p.Pro71Ser VAR_067988 rs387907007

Expression for Multicentric Carpotarsal Osteolysis Syndrome

Search GEO for disease gene expression data for Multicentric Carpotarsal Osteolysis Syndrome.

Pathways for Multicentric Carpotarsal Osteolysis Syndrome

Pathways related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 TNFSF11 TNFRSF11B TNFRSF11A CCL3
2
Show member pathways
12.18 TNFSF11 TNFRSF11B TNFRSF11A
3
Show member pathways
12.03 TNFSF11 TNFRSF11B TNFRSF11A
4 11.69 TNFSF11 TNFRSF11B TNFRSF11A
5 11.58 TNFSF11 PTHLH MAFB BGLAP
6 11.51 TNFSF11 TNFRSF11A CCL3
7
Show member pathways
11.36 TNFSF11 TNFRSF11A
8 11.09 TNFSF11 PTHLH BGLAP
9 10.91 TNFSF11 TNFRSF11B
10 10.58 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
11 10.54 TNFSF11 TNFRSF11B TNFRSF11A
12 10.28 TNFSF11 TNFRSF11B BGLAP

GO Terms for Multicentric Carpotarsal Osteolysis Syndrome

Cellular components related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 TNFSF11 TNFRSF11B PTHLH CCL3 BGLAP
2 extracellular space GO:0005615 9.02 TNFSF11 TNFRSF11B PTHLH CCL3 BGLAP

Biological processes related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.71 TNFRSF11A PTHLH CCL3
2 skeletal system development GO:0001501 9.63 TNFRSF11B PTHLH BGLAP
3 calcium-mediated signaling GO:0019722 9.58 TNFSF11 CCL3
4 response to estrogen GO:0043627 9.58 TNFRSF11B BGLAP
5 bone development GO:0060348 9.57 TNFSF11 BGLAP
6 bone mineralization GO:0030282 9.56 PTHLH BGLAP
7 osteoclast differentiation GO:0030316 9.55 TNFSF11 TNFRSF11A
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.54 TNFSF11 TNFRSF11B TNFRSF11A
9 negative regulation of osteoclast differentiation GO:0045671 9.52 MAFB CCL3
10 positive regulation of bone resorption GO:0045780 9.51 TNFSF11 TNFRSF11A
11 ossification GO:0001503 9.5 TNFSF11 TNFRSF11A BGLAP
12 osteoblast development GO:0002076 9.49 PTHLH BGLAP
13 mammary gland alveolus development GO:0060749 9.48 TNFSF11 TNFRSF11A
14 regulation of osteoclast differentiation GO:0045670 9.43 TNFSF11 BGLAP
15 response to inorganic substance GO:0010035 9.4 TNFRSF11B BGLAP
16 monocyte chemotaxis GO:0002548 9.33 TNFSF11 TNFRSF11A CCL3
17 TNFSF11-mediated signaling pathway GO:0071847 9.26 TNFSF11 TNFRSF11A
18 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.96 TNFSF11 TNFRSF11A
19 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.62 TNFSF11 TNFRSF11A

Molecular functions related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 TNFSF11 TNFRSF11B CCL3

Sources for Multicentric Carpotarsal Osteolysis Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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