MCTO
MCID: MLT092
MIFTS: 60

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 57 53 74 37 13
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy 57 72
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 53 59
Idiopathic Multicentric Osteolysis with or Without Nephropathy 53 59
Osteolysis 44 33
Mcto 57 74
Hereditary Osteolysis of Carpal Bones with or Without Nephropathy 74
Syndrome, Osteolysis, Carpotarsal, Multicentric 40
Multicentric Osteolysis, Autosomal Dominant 57
Autosomal Dominant Multicentric Osteolysis 74
Lytic Lesion 72

Characteristics:

Orphanet epidemiological data:

59
multicentric carpo-tarsal osteolysis with or without nephropathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy-early childhood


HPO:

32
multicentric carpotarsal osteolysis syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166300
KEGG 37 H01865
MeSH 44 D010014
ICD10 33 M89.5
UMLS via Orphanet 73 C2674705
Orphanet 59 ORPHA2774
MedGen 42 C2674705
UMLS 72 C0221204 C2674705

Summaries for Multicentric Carpotarsal Osteolysis Syndrome

KEGG : 37
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 arthropathy, 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 Development Endothelin-1/EDNRA signaling 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 proteinuria

NIH Rare Diseases : 53 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 : 57 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 : 74 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 : 75 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 456)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 33.8 TNFSF11 TNFRSF11B TNFRSF11A
2 arthropathy 30.9 TNFSF11 TNFRSF11B
3 osteomyelitis 30.6 TNFSF11 CTSK
4 myeloma, multiple 30.4 TNFSF11 TNFRSF11B MAFB
5 synovitis 30.4 TNFSF11 TNFRSF11B
6 bone giant cell tumor 30.4 TNFSF11 CTSK
7 ankylosis 30.1 TNFRSF11B BGLAP
8 osteonecrosis 30.0 TNFSF11 TNFRSF11B BGLAP
9 bone cancer 29.8 TNFSF11 TNFRSF11A
10 osteopetrosis 29.7 TNFSF11 TNFRSF11A CTSK
11 bone resorption disease 29.6 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP
12 glucocorticoid-induced osteoporosis 29.6 TNFSF11 TNFRSF11B BGLAP
13 hyperparathyroidism 29.4 TNFRSF11B PTHLH BGLAP
14 bone inflammation disease 29.3 TNFSF11 TNFRSF11B CTSK BGLAP
15 periodontitis 29.2 TNFSF11 TNFRSF11B CTSK BGLAP
16 pseudohypoparathyroidism 29.2 PTHLH BGLAP
17 parathyroid adenoma 29.1 PTHLH BGLAP
18 paget's disease of bone 28.8 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
19 primary hyperparathyroidism 28.7 PTHLH BGLAP
20 root resorption 28.7 TNFSF11 TNFRSF11B TNFRSF11A CTSK
21 rheumatoid arthritis 28.4 TNFSF11 TNFRSF11B TNFRSF11A CTSK
22 giant cell tumor 28.4 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP
23 prostate cancer 28.2 TNFSF11 TNFRSF11B PTHLH BGLAP
24 osteoporosis 27.7 TNFSF11 TNFRSF11B TNFRSF11A PTHLH CTSK BGLAP
25 bone disease 27.4 TNFSF11 TNFRSF11B TNFRSF11A PTHLH CTSK BGLAP
26 multicentric osteolysis, nodulosis, and arthropathy 12.8
27 osteolysis syndrome, recessive 12.4
28 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.4
29 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals 12.3
30 multicentric osteolysis-nodulosis-arthropathy spectrum 12.3
31 osebold skeletal dysplasia/osteolysis syndrome 12.3
32 idiopathic phalangeal acro-osteolysis 12.3
33 primary osteolysis 12.3
34 hajdu-cheney syndrome 12.2
35 gorham's disease 12.2
36 carpo tarsal osteolysis recessive 12.1
37 nestor-guillermo progeria syndrome 12.0
38 cystic angiomatosis of bone, diffuse 11.9
39 winchester syndrome 11.9
40 multicentric osteolysis nephropathy 11.8
41 petit-fryns syndrome 11.7
42 acroosteolysis dominant type 11.7
43 phalangeal microgeodic syndrome 11.7
44 mandibuloacral dysplasia with type a lipodystrophy 11.7
45 acroosteolysis 11.6
46 primary hypertrophic osteoarthropathy 11.5
47 hutchinson-gilford progeria syndrome 11.5
48 haim-munk syndrome 11.4
49 van bogaert-hozay syndrome 11.4
50 penttinen-aula syndrome 11.4

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:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
3 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
6 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
7 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100
8 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
9 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
10 wrist swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001225
11 carpal osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001495
12 metacarpal osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001504
13 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
14 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
15 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
16 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
17 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
18 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
19 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
20 hypertension 32 HP:0000822
21 osteopenia 32 HP:0000938
22 renal insufficiency 32 HP:0000083
23 arthralgia 32 HP:0002829
24 osteolysis 59 Very frequent (99-80%)
25 pes cavus 32 HP:0001761
26 hypoplasia of the maxilla 32 HP:0000327
27 abnormality of the wrist 59 Very frequent (99-80%)
28 ankle swelling 32 HP:0001785
29 ulnar deviation of the hand 32 HP:0009487
30 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
31 metatarsal osteolysis 32 HP:0001473
32 osteolysis involving tarsal bones 32 HP:0006234

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
hypertension
nephropathy
renal failure

Laboratory Abnormalities:
proteinuria

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

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

Skeletal:
osteopenia

Head And Neck Face:
micrognathia
maxillary hypoplasia

Muscle Soft Tissue:
ankle swelling
wrist swelling

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
2 immune system MP:0005387 9.73 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
3 endocrine/exocrine gland MP:0005379 9.72 CTSK MAFB PTHLH TNFRSF11A TNFSF11
4 limbs/digits/tail MP:0005371 9.55 CTSK PTHLH TNFRSF11A TNFRSF11B TNFSF11
5 respiratory system MP:0005388 9.35 CTSK MAFB PTHLH TNFRSF11A TNFSF11
6 skeleton MP:0005390 9.1 CTSK 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 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nootropic Agents Phase 4
2 Cholinergic Agents Phase 4
3 Neurotransmitter Agents Phase 4
4 Cholinesterase Inhibitors Phase 4
5 Protein Kinase Inhibitors Phase 4
6 Imatinib Mesylate Phase 4 220127-57-1 123596
7
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
11
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
12 Diphosphonates Phase 2, Phase 3
13 Neuroprotective Agents Phase 2, Phase 3
14 Methylprednisolone Acetate Phase 2, Phase 3
15 Prednisolone acetate Phase 2, Phase 3
16 Aromatase Inhibitors Phase 3
17
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
18
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
19
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
20
Clodronate Approved, Investigational, Vet_approved Phase 2 10596-23-3 25419
21
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
22
Simvastatin Approved Phase 2 79902-63-9 54454
23
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
24
Denosumab Approved Phase 2 615258-40-7
25
Sorbitol Approved Phase 2 50-70-4 5780
26
Zoledronic Acid Approved Phase 1, Phase 2 118072-93-8 68740
27
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
28
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
29
Melphalan Approved Phase 2 148-82-3 460612 4053
30
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
31
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 54670067 5785
32 Hormones Phase 2
33 Hormone Antagonists Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
35 Calcium, Dietary Phase 2
36 Trace Elements Phase 2
37 Micronutrients Phase 2
38 Nutrients Phase 2
39 Estrogens Phase 2
40 Estrogen Receptor Antagonists Phase 2
41 Estrogen Antagonists Phase 2
42 Lipid Regulating Agents Phase 2
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
44 Hypolipidemic Agents Phase 2
45 Anticholesteremic Agents Phase 2
46 Antimetabolites Phase 2
47 Antibodies Phase 2
48 Antibodies, Monoclonal Phase 2
49 Immunoglobulins Phase 2
50 Antihypertensive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 91)
# 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 Randomized Clinical Evaluation of Bone Mineral Density Changes Under Non-cemented Trabecular Metal Tibial Component and Cemented Titanium Controls. Completed NCT01764984 Phase 4
4 A Comparison of Two Total Hip Replacements: Hip Resurfacing System Versus Mallory-Head/Exeter Completed NCT00116948 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 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
7 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
8 Durom(R) Hip Resurfacing System Multicenter Trial Completed NCT00746616 Phase 3
9 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
10 Single Dosing of Zoledronic Acid in Cancer Therapy Induced Bone Loss (CTIBL) Completed NCT00712985 Phase 3 Zometa
11 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
12 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
13 Clinical Trial on the Zirconia Femoral Component for the Gem Total Knee System Completed NCT00743717 Phase 2
14 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
15 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
16 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
17 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
18 A Phase II Pilot Study of Avelumab in Combination With Hypofractionated Radiotherapy in Patients With Relapsed Refractory Multiple Myeloma Recruiting NCT03910439 Phase 2
19 Effect of Denosumab on Inflammatory Osteolytic Lesion Activity in Total Hip Recruiting NCT01358669 Phase 2 Denosumab
20 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Recruiting NCT02663895 Phase 2 Oral treprostinil
21 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
22 Pilot Study to Evaluate the Impact of Denosumab on Disseminated Tumor Cells (DTC) in Patients With Early Stage Breast Cancer Active, not recruiting NCT01545648 Phase 2 Denosumab
23 Adjuvant Zoledronic Acid in 'High Risk' Giant Cell Tumour of Bone (GCT) - A Randomized Phase II Study Terminated NCT00889590 Phase 2 Zoledronic acid
24 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
25 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
26 A Study of ARRY-382 in Patients With Selected Advanced or Metastatic Cancers Completed NCT01316822 Phase 1 ARRY-382, cFMS inhibitor; oral
27 Pilot Trial Evaluating Viral Protein Production From the Combination of Reolysin and Carfilzomib in Multiple Myeloma Recruiting NCT02101944 Phase 1 Carfilzomib;Dexamethasone
28 Migration Pattern of C-stem AMT Versus Exeter in Total Hip Arthroplasty Unknown status NCT00722982
29 Comparative Study of the Wear of Uncemented Acetabular Conventional Polyethylene and X3 in Total Hip Replacement, for Stereo-radiographic Analysis Unknown status NCT02525770
30 Prospective, Randomized Study of Highly-cross Linked Polyethylene vs. Compression Molded Polyethylene for Primary Posterior-stabilized Total Knee Arthroplasty Unknown status NCT02178020
31 Serum Level of Cobalt and Chromium After Ceramic on Metal Articulation Total Hip Arthroplasty Unknown status NCT02346513
32 Prospective Clinical Study Evaluating Tibiofemoral Rotational Alignment Using Intraoperative Sensing During Total Knee Arthroplasty Unknown status NCT02286739
33 Treatment of Unstable Distal Clavicular Fractures (Neer 2b): Hook Plate vs Locking Plate Unknown status NCT01555372
34 Osteolysis Development Over Time Around Uncemented Titanium Fiber Mesh Cups With or Without Screw Holes Completed NCT03692351
35 CT for Diagnosis of Implant Stability in Revision Arthroplasty Completed NCT00367289
36 A Prospective Clinical Study On A Total Hip Resurfacing System Completed NCT00604734
37 A Five-Year Metal-on-Metal Retrospective Clinical Study Completed NCT01481896
38 Comparison of Highly Cross-Linked and Conventional Polyethylene in Posterior Cruciate-Substituting Total Knee Arthroplasty in the Same Patients Completed NCT02020057
39 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)
40 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
41 Scan Evaluation at 9 Years of the Bone Acetabular Supporting Cups Without Cement (Couple Metal/Metal in Diameter 28 mm) Completed NCT01349179
42 A Prospective, Randomized Clinical Study Comparing Marathon Polyethylene and Enduron Polyethylene Acetabular Liners Used in Total Hip Arthroplasty Completed NCT01121146
43 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
44 Short-Term Clinical Outcome Including Dislocation Rate and Ceramic Fracture of Total Hip Arthroplasty Using Larger Diameter of 4th Generation Ceramic Bearing Completed NCT01103882
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 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
47 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
48 Prospective Exploratory Study:Bone Mineral Density Changes of the Acetabulum After Revision Hip Arthroplasty Using Bone Impaction Grafting Completed NCT02061904
49 Early Diagnosis of Pending Failures of Total Hip Arthroplasty With Hard to Hard Bearings Completed NCT02427984
50 Evaluation of Cemented and Cementless Fixation of Dual-mobility Hip Prosthesis in Elderly Patients With Osteoarthritis Completed NCT02404727

Search NIH Clinical Center for Multicentric Carpotarsal Osteolysis Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


pamidronate
Pamidronate Disodium
Pamidronic acid

Cochrane evidence based reviews: osteolysis

Genetic Tests for Multicentric Carpotarsal Osteolysis Syndrome

Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

41
Bone, Breast, Kidney, Prostate, Endothelial, Testes, Thyroid

Publications for Multicentric Carpotarsal Osteolysis Syndrome

Articles related to Multicentric Carpotarsal Osteolysis Syndrome:

(show top 50) (show all 243)
# Title Authors PMID Year
1
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 38 8 71
22387013 2012
2
[Multicentric carpotarsal osteolysis in a rheumatologist's practice]. 38 6
26027247 2015
3
Carpo-tarsal osteolysis. Case report and review of the literature. 8
8471218 1993
4
Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. 8
1776642 1991
5
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 8
3041835 1988
6
Idiopathic multicentric osteolysis with facial anomalies and nephropathy. 8
3591830 1987
7
Idiopathic multicentric osteolysis with acro-osteolysis. A case report. 8
3968151 1985
8
[Essential osteolysis with carpal and tarsal onset]. 8
7183750 1982
9
Idiopathic multicentric osteolysis in a 78-year-old woman. 8
7206409 1981
10
Nephropathy of idiopathic multicentric osteolysis. 8
7360298 1980
11
Idiopathic multicentric osteolysis. Report of an affected father and son. 8
646835 1978
12
Multifocal osteolysis with nephropathy. 8
999328 1976
13
Idiopathic multicentric osteolysis. 8
175680 1976
14
Hereditary osteolysis. A clinical, radiological and chemical study. 8
4709054 1973
15
Familial osteolysis of the carpal and tarsal bones. 8
4261959 1972
16
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 8
5795345 1969
17
Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome. 8
5722853 1968
18
OSTEOARTICULAR CHANGES IN A CASE OF ESSENTIAL OSTEOLYSIS; AN ANATOMICAL AND RADIOLOGICAL STUDY. 8
14302739 1965
19
HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. 8
14114021 1964
20
[A special form of essential hereditary and familial osteolysis originating in early childhood and stabilizing spontaneously in later years]. 8
13623687 1958
21
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. 8
13263344 1955
22
Squamous cell carcinoma transformation in mature cystic teratoma of the ovary: a systematic review. 38
30866852 2019
23
Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients. 38
30369533 2019
24
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. 38
30430035 2018
25
Three cases of multicentric carpotarsal osteolysis syndrome: a case series. 38
30208859 2018
26
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. 38
29396697 2018
27
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian. 38
30305815 2018
28
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. 38
29675035 2018
29
Identification of a MAFB mutation in a patient with multicentric carpotarsal osteolysis. 38
29120020 2017
30
Are the Current Classifications and Radiographic Measurements for Trochlear Dysplasia Appropriate in the Skeletally Immature Patient? 38
27826597 2016
31
Malignant transformation of mature cystic teratoma of the ovary: a case series. 38
26259384 2015
32
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. 38
24989131 2014
33
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. 38
23956186 2013
34
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 38
23670161 2013
35
Inhibition of RANKL increases the anti-tumor effect of the EGFR inhibitor panitumumab in a murine model of bone metastasis. 9
20215062 2010
36
In vitro studies of multiwalled carbon nanotube/ultrahigh molecular weight polyethylene nanocomposites with osteoblast-like MG63 cells. 9
20490435 2010
37
Comparison of low-intensity pulsed ultrasound and pulsed electromagnetic field treatments on OPG and RANKL expression in human osteoblast-like cells. 9
20050743 2010
38
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. 9
20070853 2010
39
Osteopontin deficiency impairs wear debris-induced osteolysis via regulation of cytokine secretion from murine macrophages. 9
20155835 2010
40
Preclinical evidence that use of TRAIL in Ewing's sarcoma and osteosarcoma therapy inhibits tumor growth, prevents osteolysis, and increases animal survival. 9
20371692 2010
41
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. 9
20307736 2010
42
Vitamin D deficiency promotes human breast cancer growth in a murine model of bone metastasis. 9
20160035 2010
43
Soluble TRAIL could enhance bone destruction acting on Rank-ligand in estrogen-independent human breast cancer cell line MDA-MB-231. 9
19058836 2010
44
The roles of monocytic heat shock protein 60 and Toll-like receptors in the regional inflammation response to wear debris particles. 9
19353569 2010
45
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 9
19653001 2010
46
Runx2 association with progression of prostate cancer in patients: mechanisms mediating bone osteolysis and osteoblastic metastatic lesions. 9
19915614 2010
47
Possible role of matrix metalloproteinase in osteolytic intracranial meningiomas. 9
20157372 2010
48
Over-expression of receptor activator of nuclear factor-kappaB ligand (RANKL), inflammatory cytokines, and chemokines in periprosthetic osteolysis of loosened total hip arthroplasty. 9
19781765 2010
49
Reply to letter by Gallo and Petrek commenting on interleukin-1 receptor antagonist and interleukin-6 polymorphisms and post-total hip arthroplasty osteolysis. 9
19950270 2009
50
Bone biology and the role of the RANK ligand pathway. 9
20128323 2009

Variations for Multicentric Carpotarsal Osteolysis Syndrome

ClinVar genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAFB NM_005461.5(MAFB): c.184A> C (p.Thr62Pro) single nucleotide variant Pathogenic rs387907004 20:39317307-39317307 20:40688667-40688667
2 MAFB NM_005461.5(MAFB): c.208T> G (p.Ser70Ala) single nucleotide variant Pathogenic rs387907005 20:39317283-39317283 20:40688643-40688643
3 MAFB NM_005461.5(MAFB): c.209C> T (p.Ser70Leu) single nucleotide variant Pathogenic rs387907006 20:39317282-39317282 20:40688642-40688642
4 MAFB NM_005461.5(MAFB): c.211C> T (p.Pro71Ser) single nucleotide variant Pathogenic rs387907007 20:39317280-39317280 20:40688640-40688640
5 MAFB NM_005461.5(MAFB): c.212C> T (p.Pro71Leu) single nucleotide variant Pathogenic rs387907008 20:39317279-39317279 20:40688639-40688639
6 MAFB NM_005461.5(MAFB): c.161C> T (p.Ser54Leu) single nucleotide variant Pathogenic rs730880014 20:39317330-39317330 20:40688690-40688690
7 MAFB NM_005461.5(MAFB): c.*1433A> G single nucleotide variant Uncertain significance rs886056661 20:39315086-39315086 20:40686446-40686446
8 MAFB NM_005461.5(MAFB): c.*795G> T single nucleotide variant Uncertain significance rs886056667 20:39315724-39315724 20:40687084-40687084
9 MAFB NM_005461.5(MAFB): c.*410G> A single nucleotide variant Uncertain significance rs886056668 20:39316109-39316109 20:40687469-40687469
10 MAFB NM_005461.5(MAFB): c.*229A> G single nucleotide variant Uncertain significance rs886056671 20:39316290-39316290 20:40687650-40687650
11 MAFB NM_005461.5(MAFB): c.*30C> A single nucleotide variant Uncertain significance rs780982442 20:39316489-39316489 20:40687849-40687849
12 MAFB NM_005461.5(MAFB): c.*1803C> T single nucleotide variant Uncertain significance rs779945829 20:39314716-39314716 20:40686076-40686076
13 MAFB NM_005461.5(MAFB): c.*1787T> C single nucleotide variant Uncertain significance rs749002713 20:39314732-39314732 20:40686092-40686092
14 MAFB NM_005461.5(MAFB): c.*1226C> T single nucleotide variant Uncertain significance rs886056662 20:39315293-39315293 20:40686653-40686653
15 MAFB NM_005461.5(MAFB): c.*881G> T single nucleotide variant Uncertain significance rs886056666 20:39315638-39315638 20:40686998-40686998
16 MAFB NM_005461.5(MAFB): c.399C> T (p.His133=) single nucleotide variant Uncertain significance rs762729675 20:39317092-39317092 20:40688452-40688452
17 MAFB NM_005461.5(MAFB): c.-171C> A single nucleotide variant Uncertain significance rs886056676 20:39317661-39317661 20:40689021-40689021
18 MAFB NM_005461.5(MAFB): c.*1551G> A single nucleotide variant Uncertain significance rs886056660 20:39314968-39314968 20:40686328-40686328
19 MAFB NM_005461.5(MAFB): c.*976G> A single nucleotide variant Uncertain significance rs886056664 20:39315543-39315543 20:40686903-40686903
20 MAFB NM_005461.5(MAFB): c.*929del deletion Uncertain significance rs11482617 20:39315590-39315590 20:40686950-40686950
21 MAFB NM_005461.5(MAFB): c.*377G> C single nucleotide variant Uncertain significance rs886056669 20:39316142-39316142 20:40687502-40687502
22 MAFB NM_005461.5(MAFB): c.*309A> T single nucleotide variant Uncertain significance rs886056670 20:39316210-39316210 20:40687570-40687570
23 MAFB NM_005461.5(MAFB): c.*64C> T single nucleotide variant Uncertain significance rs886056673 20:39316455-39316455 20:40687815-40687815
24 MAFB NM_005461.5(MAFB): c.525C> G (p.Ser175Arg) single nucleotide variant Uncertain significance rs886056674 20:39316966-39316966 20:40688326-40688326
25 MAFB NM_005461.5(MAFB): c.189G> A (p.Pro63=) single nucleotide variant Uncertain significance rs201590858 20:39317302-39317302 20:40688662-40688662
26 MAFB NM_005461.5(MAFB): c.-77C> G single nucleotide variant Uncertain significance rs886056675 20:39317567-39317567 20:40688927-40688927
27 MAFB NM_005461.5(MAFB): c.-229C> T single nucleotide variant Uncertain significance rs886056677 20:39317719-39317719 20:40689079-40689079
28 MAFB NM_005461.5(MAFB): c.*1751C> T single nucleotide variant Uncertain significance rs886056656 20:39314768-39314768 20:40686128-40686128
29 MAFB NM_005461.5(MAFB): c.*1592dup duplication Uncertain significance rs3215567 20:39314927-39314927 20:40686287-40686287
30 MAFB NM_005461.5(MAFB): c.*1591T> C single nucleotide variant Uncertain significance rs886056659 20:39314928-39314928 20:40686288-40686288
31 MAFB NM_005461.5(MAFB): c.-338A> G single nucleotide variant Uncertain significance rs886056678 20:39317828-39317828 20:40689188-40689188
32 MAFB NM_005461.5(MAFB): c.*1212_*1213insGAGGA insertion Uncertain significance rs886056663 20:39315306-39315307 20:40686666-40686667
33 MAFB NM_005461.5(MAFB): c.*1679C> T single nucleotide variant Uncertain significance rs886056657 20:39314840-39314840 20:40686200-40686200
34 MAFB NM_005461.5(MAFB): c.*209A> C single nucleotide variant Uncertain significance rs886056672 20:39316310-39316310 20:40687670-40687670
35 MAFB NM_005461.5(MAFB): c.-138G> T single nucleotide variant Uncertain significance rs755784104 20:39317628-39317628 20:40688988-40688988
36 MAFB NM_005461.5(MAFB): c.-310G> A single nucleotide variant Likely benign rs567415398 20:39317800-39317800 20:40689160-40689160
37 MAFB NM_005461.5(MAFB): c.*1519C> G single nucleotide variant Likely benign rs185930615 20:39315000-39315000 20:40686360-40686360
38 MAFB NM_005461.5(MAFB): c.*1737A> G single nucleotide variant Likely benign rs532037681 20:39314782-39314782 20:40686142-40686142
39 MAFB NM_005461.5(MAFB): c.*1210G> A single nucleotide variant Likely benign rs542788257 20:39315309-39315309 20:40686669-40686669
40 MAFB NM_005461.5(MAFB): c.*1019A> G single nucleotide variant Likely benign rs545693248 20:39315500-39315500 20:40686860-40686860
41 MAFB NM_005461.5(MAFB): c.*1520C> G single nucleotide variant Likely benign rs148352161 20:39314999-39314999 20:40686359-40686359
42 MAFB NM_005461.5(MAFB): c.-204_-203del deletion Likely benign rs201369817 20:39317693-39317694 20:40689053-40689054
43 MAFB NM_005461.5(MAFB): c.-75C> G single nucleotide variant Likely benign rs574807151 20:39317565-39317565 20:40688925-40688925
44 MAFB NM_005461.5(MAFB): c.745C> A (p.Arg249=) single nucleotide variant Likely benign rs561320614 20:39316746-39316746 20:40688106-40688106
45 MAFB NM_005461.5(MAFB): c.*155C> T single nucleotide variant Likely benign rs533850442 20:39316364-39316364 20:40687724-40687724
46 MAFB NM_005461.5(MAFB): c.*68G> A single nucleotide variant Likely benign rs190300765 20:39316451-39316451 20:40687811-40687811
47 MAFB NM_005461.5(MAFB): c.*503_*506TGTC[1] short repeat Likely benign rs201579991 20:39316009-39316012 20:40687369-40687372
48 MAFB NM_005461.5(MAFB): c.*1314A> G single nucleotide variant Likely benign rs533750110 20:39315205-39315205 20:40686565-40686565
49 MAFB NM_005461.5(MAFB): c.*1255C> T single nucleotide variant Likely benign rs573637366 20:39315264-39315264 20:40686624-40686624
50 MAFB NM_005461.5(MAFB): c.-206T> G single nucleotide variant Likely benign rs527524576 20:39317696-39317696 20:40689056-40689056

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

74
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 TNFSF11 TNFRSF11B TNFRSF11A
2
Show member pathways
12.2 TNFSF11 TNFRSF11B TNFRSF11A
3
Show member pathways
12.1 TNFSF11 TNFRSF11B TNFRSF11A CTSK
4 11.73 TNFSF11 TNFRSF11B TNFRSF11A CTSK
5 11.58 TNFSF11 TNFRSF11A CTSK
6 11.58 TNFSF11 PTHLH MAFB BGLAP
7 11.53 TNFSF11 TNFRSF11A
8
Show member pathways
11.37 TNFSF11 TNFRSF11A
9 11.14 TNFSF11 PTHLH BGLAP
10 10.93 TNFSF11 TNFRSF11B
11 10.91 TNFSF11 TNFRSF11B TNFRSF11A BGLAP
12 10.48 TNFSF11 TNFRSF11B BGLAP
13 10.13 TNFSF11 TNFRSF11B TNFRSF11A CTSK

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 CTSK BGLAP
2 extracellular space GO:0005615 9.02 TNFSF11 TNFRSF11B PTHLH CTSK BGLAP

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.58 TNFRSF11B PTHLH BGLAP
2 response to estrogen GO:0043627 9.57 TNFRSF11B BGLAP
3 bone development GO:0060348 9.56 TNFSF11 BGLAP
4 monocyte chemotaxis GO:0002548 9.55 TNFSF11 TNFRSF11A
5 bone mineralization GO:0030282 9.54 PTHLH BGLAP
6 osteoclast differentiation GO:0030316 9.52 TNFSF11 TNFRSF11A
7 bone resorption GO:0045453 9.51 TNFSF11 CTSK
8 ossification GO:0001503 9.5 TNFSF11 TNFRSF11A BGLAP
9 osteoblast development GO:0002076 9.49 PTHLH BGLAP
10 positive regulation of bone resorption GO:0045780 9.48 TNFSF11 TNFRSF11A
11 mammary gland alveolus development GO:0060749 9.46 TNFSF11 TNFRSF11A
12 regulation of osteoclast differentiation GO:0045670 9.43 TNFSF11 BGLAP
13 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 TNFSF11 TNFRSF11B TNFRSF11A
14 response to inorganic substance GO:0010035 9.37 TNFRSF11B BGLAP
15 TNFSF11-mediated signaling pathway GO:0071847 9.16 TNFSF11 TNFRSF11A
16 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.96 TNFSF11 TNFRSF11A
17 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.62 TNFSF11 TNFRSF11A

Sources for Multicentric Carpotarsal Osteolysis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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