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MCTO
MCID: MLT092
MIFTS: 65

Multicentric Carpotarsal Osteolysis Syndrome (MCTO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multicentric Carpotarsal Osteolysis Syndrome

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MalaCards integrated aliases for Multicentric Carpotarsal Osteolysis Syndrome:

Name: Multicentric Carpotarsal Osteolysis Syndrome 56 12 52 73 36 13 15
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 12 52 58 29 6
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy 56 43 71
Idiopathic Multicentric Osteolysis with or Without Nephropathy 12 52 58
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
Multicentric Osteolysis Nephropathy 12
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Multicentric Carpotarsal Osteolysis Syndrome

About this section
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 multicentric carpo-tarsal osteolysis with or without nephropathy, is related to familial expansile osteolysis and gorham's disease, 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 Innate Immune System and ERK Signaling. The drugs Cholinergic Agents and Cholinesterase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast, and related phenotypes are proteinuria and gait disturbance

Disease Ontology : 12 A syndrome 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...

Sources

Related Diseases for Multicentric Carpotarsal Osteolysis Syndrome

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

(show top 50) (show all 728)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 34.7 TNFSF11 TNFRSF11B TNFRSF11A
2 gorham's disease 33.5 TNFSF11 IL6
3 periostitis 30.1 TNFRSF11B TNFRSF11A IL11
4 osteomalacia 30.1 TNFSF11 PTHLH BGLAP
5 pycnodysostosis 30.0 TNFSF11 CTSK ACP5
6 primary hyperparathyroidism 30.0 TNFSF11 TNFRSF11B PTHLH BGLAP
7 sclerosteosis 29.9 TNFSF11 TNFRSF11B CTSK BGLAP
8 hyperparathyroidism 29.8 TNFSF11 TNFRSF11B PTHLH BGLAP ACP5
9 bone cancer 29.8 TNFSF11 TNFRSF11B TNFRSF11A IL6
10 mammary paget's disease 29.8 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP ACP5
11 spondylitis 29.7 TNFSF11 TNF IL6
12 fibrous dysplasia 29.7 TNFSF11 TNFRSF11B TNFRSF11A PTHLH BGLAP
13 ankylosis 29.7 TNFSF11 TNFRSF11B TNF BGLAP
14 spondyloarthropathy 1 29.7 TNFSF11 TNFRSF11B TNF BGLAP
15 scorpion envenomation 29.7 TNF IL6
16 renal osteodystrophy 29.6 TNFSF11 TNFRSF11B BGLAP ACP5
17 juvenile rheumatoid arthritis 29.4 TNF IL6 IL1B BGLAP
18 tenosynovitis 29.4 TNF IL6
19 glucocorticoid-induced osteoporosis 29.3 TNFSF11 TNFRSF11B CSF1 BGLAP ACP5
20 metal allergy 29.3 TNF IL1B
21 bone giant cell tumor 29.2 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1 ACP5
22 leprosy 3 29.1 TNF IL6 IL1B
23 sarcoidosis 1 29.0 TNF IL1B CCL3
24 psoriatic arthritis 29.0 TNFSF11 TNFRSF11B TNF IL6 IL1B
25 cellulitis 28.9 TNF IL6 IL1B
26 bone inflammation disease 28.9 TNFSF11 TNFRSF11B TNF IL6 IL1B
27 gout 28.8 TNF IL6 IL1B
28 proteasome-associated autoinflammatory syndrome 1 28.8 TNF IL6 IL1B CCL3
29 candidiasis 28.8 TNF IL6 IL1B
30 blepharitis 28.8 TNF IL6 IL1B
31 apnea, obstructive sleep 28.8 TNF IL6 IL1B
32 septic arthritis 28.8 TNF IL6 IL1B
33 spondyloarthropathy 28.7 TNFSF11 TNF IL6 IL1B
34 osteonecrosis 28.7 TNFSF11 TNFRSF11B TNF IL1B BGLAP ACP5
35 toxic shock syndrome 28.7 TNF IL6 IL1B
36 arteriovenous malformation 28.7 TNF IL6 IL1B
37 temporal arteritis 28.7 TNF IL6 IL1B
38 tendinitis 28.7 TNF IL6 IL1B ACP5
39 otitis media 28.7 TNF IL6 IL1B
40 scoliosis 28.7 TNFSF11 TNFRSF11B TNFRSF11A IL6 CTSK BGLAP
41 meningitis 28.7 TNF IL6 IL1B CCL3
42 synovitis 28.7 TNFSF11 TNFRSF11B TNF IL6 IL1B ACP5
43 keratitis, hereditary 28.7 TNF IL6 IL1B
44 arthropathy 28.7 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
45 sleep apnea 28.6 TNF IL6 IL1B
46 osteogenic sarcoma 28.6 TNFSF11 TNFRSF11B TNF PTHLH IL6 IL11
47 myelofibrosis 28.6 TNFRSF11B TNF IL1B ACP5
48 osteomyelitis 28.6 TNFSF11 TNF IL6 IL1B CTSK ACP5
49 benign giant cell tumor 28.6 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1 BGLAP
50 osteoarthritis 28.5 TNFSF11 TNFRSF11B TNF IL6 IL1B BGLAP

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



Diseases related to Multicentric Carpotarsal Osteolysis Syndrome
Sources

Symptoms & Phenotypes for Multicentric Carpotarsal Osteolysis Syndrome

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Human phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

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

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria

Skeletal:
osteopenia

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

Muscle Soft Tissue:
wrist swelling
ankle swelling

Genitourinary Kidneys:
nephropathy
hypertension
renal failure

Head And Neck Face:
micrognathia
maxillary hypoplasia

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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 BGLAP CSF1 CTSK IL6 MAFB PTHLH
2 craniofacial MP:0005382 10.13 CSF1 CTSK IL1B MAFB PTHLH TNF
3 growth/size/body region MP:0005378 10.13 CSF1 CTSK IL1B IL6 MAFB PTHLH
4 endocrine/exocrine gland MP:0005379 10.11 BGLAP CSF1 CTSK IL6 MAFB PTHLH
5 immune system MP:0005387 10.11 BGLAP CSF1 CTSK IL1B IL6 MAFB
6 hematopoietic system MP:0005397 10.1 BGLAP CSF1 CTSK IL1B IL6 PTHLH
7 limbs/digits/tail MP:0005371 9.87 CSF1 CTSK PTHLH TNF TNFRSF11A TNFRSF11B
8 reproductive system MP:0005389 9.81 BGLAP CSF1 CTSK IL6 MAFB PTHLH
9 neoplasm MP:0002006 9.73 IL1B IL6 PTHLH TNF TNFRSF11A TNFSF11
10 respiratory system MP:0005388 9.56 CSF1 CTSK IL6 MAFB PTHLH TNF
11 skeleton MP:0005390 9.36 BGLAP CSF1 CTSK IL1B IL6 MAFB
Sources

Drugs & Therapeutics for Multicentric Carpotarsal Osteolysis Syndrome

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

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

Interventional clinical trials:

(show top 50) (show all 99)
# 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 Bone Remodeling Around HA-coated Acetabular Cups. Completed NCT00159497 Phase 4
4 Randomized Clinical Evaluation of Bone Mineral Density Changes Under Non-cemented Trabecular Metal Tibial Component and Cemented Titanium Controls. Completed NCT01764984 Phase 4
5 A Comparison of Two Total Hip Replacements: Hip Resurfacing System Versus Mallory-Head/Exeter Completed NCT00116948 Phase 4
6 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
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 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
13 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
14 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
15 Clinical Trial on the Zirconia Femoral Component for the Gem Total Knee System Completed NCT00743717 Phase 2
16 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
17 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
18 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
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 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Completed NCT02663895 Phase 2 Oral treprostinil
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 Adjuvant Zoledronic Acid in 'High Risk' Giant Cell Tumour of Bone (GCT) - A Randomized Phase II Study Terminated NCT00889590 Phase 2 Zoledronic acid
25 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
26 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
27 Pilot Study to Evaluate the Impact of Denosumab on Disseminated Tumor Cells (DTC) in Patients With Early Stage Breast Cancer Terminated NCT01545648 Phase 2 Denosumab
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 Outcome of Total Hip Replacement in Patients With Chronic Renal Disease Unknown status NCT03522285
34 Prospective Clinical Study Evaluating Tibiofemoral Rotational Alignment Using Intraoperative Sensing During Total Knee Arthroplasty Unknown status NCT02286739
35 Treatment of Unstable Distal Clavicular Fractures (Neer 2b): Hook Plate vs Locking Plate Unknown status NCT01555372
36 Osteolysis Development Over Time Around Uncemented Titanium Fiber Mesh Cups With or Without Screw Holes Completed NCT03692351
37 CT for Diagnosis of Implant Stability in Revision Arthroplasty Completed NCT00367289
38 A Prospective Clinical Study On A Total Hip Resurfacing System Completed NCT00604734
39 A Five-Year Metal-on-Metal Retrospective Clinical Study Completed NCT01481896
40 Comparison of Highly Cross-Linked and Conventional Polyethylene in Posterior Cruciate-Substituting Total Knee Arthroplasty in the Same Patients Completed NCT02020057
41 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)
42 Scan Evaluation at 9 Years of the Bone Acetabular Supporting Cups Without Cement (Couple Metal/Metal in Diameter 28 mm) Completed NCT01349179
43 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
44 A Prospective, Randomized Clinical Study Comparing Marathon Polyethylene and Enduron Polyethylene Acetabular Liners Used in Total Hip Arthroplasty Completed NCT01121146
45 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
46 A Study of the Comprehensive Shoulder System With Nano Humeral Component in Total Shoulder Arthroplasty Completed NCT01936259
47 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
48 Short-Term Clinical Outcome Including Dislocation Rate and Ceramic Fracture of Total Hip Arthroplasty Using Larger Diameter of 4th Generation Ceramic Bearing Completed NCT01103882
49 Vitamin E Stabilized Highly Cross-linked Polyethylene in Reversed Hybrid Total Hip Completed NCT04126421
50 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

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

Sources

Genetic Tests for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Genetic tests related to Multicentric Carpotarsal Osteolysis Syndrome:

# Genetic test Affiliating Genes
1 Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 29 MAFB
Sources

Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

About this section

MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

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

Publications for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Articles related to Multicentric Carpotarsal Osteolysis Syndrome:

(show top 50) (show all 234)
# Title Authors PMID Year
1
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 6 56
22387013 2012
2
Carpo-tarsal osteolysis. Case report and review of the literature. 56
8471218 1993
3
Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. 56
1776642 1991
4
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 56
3041835 1988
5
Idiopathic multicentric osteolysis with facial anomalies and nephropathy. 56
3591830 1987
6
Idiopathic multicentric osteolysis with acro-osteolysis. A case report. 56
3968151 1985
7
[Essential osteolysis with carpal and tarsal onset]. 56
7183750 1982
8
Idiopathic multicentric osteolysis in a 78-year-old woman. 56
7206409 1981
9
Nephropathy of idiopathic multicentric osteolysis. 56
7360298 1980
10
Idiopathic multicentric osteolysis. Report of an affected father and son. 56
646835 1978
11
Multifocal osteolysis with nephropathy. 56
999328 1976
12
Idiopathic multicentric osteolysis. 56
175680 1976
13
Hereditary osteolysis. A clinical, radiological and chemical study. 56
4709054 1973
14
Familial osteolysis of the carpal and tarsal bones. 56
4261959 1972
15
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 56
5795345 1969
16
Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome. 56
5722853 1968
17
OSTEOARTICULAR CHANGES IN A CASE OF ESSENTIAL OSTEOLYSIS; AN ANATOMICAL AND RADIOLOGICAL STUDY. 56
14302739 1965
18
HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. 56
14114021 1964
19
[A special form of essential hereditary and familial osteolysis originating in early childhood and stabilizing spontaneously in later years]. 56
13623687 1958
20
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. 56
13263344 1955
21
[Multicentric carpotarsal osteolysis in a rheumatologist's practice]. 52
26027247 2015
22
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing. 61
32278749 2020
23
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. 61
30430035 2018
24
Three cases of multicentric carpotarsal osteolysis syndrome: a case series. 61
30208859 2018
25
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. 61
29396697 2018
26
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian. 61
30305815 2018
27
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. 61
29675035 2018
28
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
29
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 61
23670161 2013
30
Inhibition of RANKL increases the anti-tumor effect of the EGFR inhibitor panitumumab in a murine model of bone metastasis. 54
20215062 2010
31
Osteopontin deficiency impairs wear debris-induced osteolysis via regulation of cytokine secretion from murine macrophages. 54
20155835 2010
32
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
33
Comparison of low-intensity pulsed ultrasound and pulsed electromagnetic field treatments on OPG and RANKL expression in human osteoblast-like cells. 54
20050743 2010
34
In vitro studies of multiwalled carbon nanotube/ultrahigh molecular weight polyethylene nanocomposites with osteoblast-like MG63 cells. 54
20490435 2010
35
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
36
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
37
Vitamin D deficiency promotes human breast cancer growth in a murine model of bone metastasis. 54
20160035 2010
38
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 54
19653001 2010
39
The roles of monocytic heat shock protein 60 and Toll-like receptors in the regional inflammation response to wear debris particles. 54
19353569 2010
40
Soluble TRAIL could enhance bone destruction acting on Rank-ligand in estrogen-independent human breast cancer cell line MDA-MB-231. 54
19058836 2010
41
Runx2 association with progression of prostate cancer in patients: mechanisms mediating bone osteolysis and osteoblastic metastatic lesions. 54
19915614 2010
42
Possible role of matrix metalloproteinase in osteolytic intracranial meningiomas. 54
20157372 2010
43
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
44
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
45
Bone biology and the role of the RANK ligand pathway. 54
20128323 2009
46
Breaking down bone: new insight into site-specific mechanisms of breast cancer osteolysis mediated by metalloproteinases. 54
19759260 2009
47
Osteoclast-derived matrix metalloproteinase-7, but not matrix metalloproteinase-9, contributes to tumor-induced osteolysis. 54
19679556 2009
48
A novel function of CXCL13 to stimulate RANK ligand expression in oral squamous cell carcinoma cells. 54
19671684 2009
49
Assessment of five interleukins in human synovial fluid as possible markers for aseptic loosening of hip arthroplasty. 54
19566730 2009
50
Bio-corrosion of stainless steel by osteoclasts--in vitro evidence. 54
19105228 2009
Sources

Variations for Multicentric Carpotarsal Osteolysis Syndrome

About this section

ClinVar genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.185C>T (p.Thr62Ile)SNV Pathogenic 803608 20:39317306-39317306 20:40688666-40688666
8 MAFB NM_005461.5(MAFB):c.184A>G (p.Thr62Ala)SNV Pathogenic 807627 20:39317307-39317307 20:40688667-40688667
9 MAFB NM_005461.5(MAFB):c.197C>T (p.Ser66Phe)SNV Likely pathogenic 813951 20:39317294-39317294 20:40688654-40688654
10 MAFB NM_005461.5(MAFB):c.*1679C>TSNV Uncertain significance 338378 rs886056657 20:39314840-39314840 20:40686200-40686200
11 MAFB NM_005461.5(MAFB):c.*1519C>GSNV Uncertain significance 338384 rs185930615 20:39315000-39315000 20:40686360-40686360
12 MAFB NM_005461.5(MAFB):c.*1212_*1213insGAGGAinsertion Uncertain significance 338389 rs886056663 20:39315306-39315307 20:40686666-40686667
13 MAFB NM_005461.5(MAFB):c.*1210G>ASNV Uncertain significance 338390 rs542788257 20:39315309-39315309 20:40686669-40686669
14 MAFB NM_005461.5(MAFB):c.*1519C>ASNV Uncertain significance 894982 20:39315000-39315000 20:40686360-40686360
15 MAFB NM_005461.5(MAFB):c.*1171A>CSNV Uncertain significance 896425 20:39315348-39315348 20:40686708-40686708
16 MAFB NM_005461.5(MAFB):c.*1019A>CSNV Uncertain significance 896426 20:39315500-39315500 20:40686860-40686860
17 MAFB NM_005461.5(MAFB):c.*791C>GSNV Uncertain significance 898052 20:39315728-39315728 20:40687088-40687088
18 MAFB NM_005461.5(MAFB):c.*565C>TSNV Uncertain significance 898053 20:39315954-39315954 20:40687314-40687314
19 MAFB NM_005461.5(MAFB):c.*415G>ASNV Uncertain significance 898054 20:39316104-39316104 20:40687464-40687464
20 MAFB NM_005461.5(MAFB):c.*367G>ASNV Uncertain significance 898055 20:39316152-39316152 20:40687512-40687512
21 MAFB NM_005461.5(MAFB):c.*175G>ASNV Uncertain significance 899175 20:39316344-39316344 20:40687704-40687704
22 MAFB NM_005461.5(MAFB):c.648C>T (p.Leu216=)SNV Uncertain significance 895055 20:39316843-39316843 20:40688203-40688203
23 MAFB NM_005461.5(MAFB):c.420C>T (p.His140=)SNV Uncertain significance 895056 20:39317071-39317071 20:40688431-40688431
24 MAFB NM_005461.5(MAFB):c.393C>A (p.His131Gln)SNV Uncertain significance 895057 20:39317098-39317098 20:40688458-40688458
25 MAFB NM_005461.5(MAFB):c.329C>A (p.Ala110Glu)SNV Uncertain significance 895059 20:39317162-39317162 20:40688522-40688522
26 MAFB NM_005461.5(MAFB):c.224C>A (p.Pro75Gln)SNV Uncertain significance 896499 20:39317267-39317267 20:40688627-40688627
27 MAFB NM_005461.5(MAFB):c.153A>G (p.Pro51=)SNV Uncertain significance 896500 20:39317338-39317338 20:40688698-40688698
28 MAFB NM_005461.5(MAFB):c.-76C>ASNV Uncertain significance 896501 20:39317566-39317566 20:40688926-40688926
29 MAFB NM_005461.5(MAFB):c.-82T>GSNV Uncertain significance 896502 20:39317572-39317572 20:40688932-40688932
30 MAFB NM_005461.5(MAFB):c.-130C>TSNV Uncertain significance 898124 20:39317620-39317620 20:40688980-40688980
31 MAFB NM_005461.5(MAFB):c.-211A>CSNV Uncertain significance 898125 20:39317701-39317701 20:40689061-40689061
32 MAFB NM_005461.5(MAFB):c.-222G>TSNV Uncertain significance 898126 20:39317712-39317712 20:40689072-40689072
33 MAFB NM_005461.5(MAFB):c.-225C>GSNV Uncertain significance 898127 20:39317715-39317715 20:40689075-40689075
34 MAFB NM_005461.5(MAFB):c.-269G>CSNV Uncertain significance 899235 20:39317759-39317759 20:40689119-40689119
35 MAFB NM_005461.5(MAFB):c.-297G>TSNV Uncertain significance 899236 20:39317787-39317787 20:40689147-40689147
36 MAFB NM_005461.5(MAFB):c.*209A>CSNV Uncertain significance 338402 rs886056672 20:39316310-39316310 20:40687670-40687670
37 MAFB NM_005461.5(MAFB):c.-138G>TSNV Uncertain significance 338415 rs755784104 20:39317628-39317628 20:40688988-40688988
38 MAFB NM_005461.5(MAFB):c.*1255C>TSNV Uncertain significance 338387 rs573637366 20:39315264-39315264 20:40686624-40686624
39 MAFB NM_005461.5(MAFB):c.*976G>ASNV Uncertain significance 338392 rs886056664 20:39315543-39315543 20:40686903-40686903
40 MAFB NM_005461.5(MAFB):c.*929deldeletion Uncertain significance 338394 rs11482617 20:39315590-39315590 20:40686950-40686950
41 MAFB NM_005461.5(MAFB):c.*377G>CSNV Uncertain significance 338399 rs886056669 20:39316142-39316142 20:40687502-40687502
42 MAFB NM_005461.5(MAFB):c.*309A>TSNV Uncertain significance 338400 rs886056670 20:39316210-39316210 20:40687570-40687570
43 MAFB NM_005461.5(MAFB):c.*1551G>ASNV Uncertain significance 338382 rs886056660 20:39314968-39314968 20:40686328-40686328
44 MAFB NM_005461.5(MAFB):c.*64C>TSNV Uncertain significance 338406 rs886056673 20:39316455-39316455 20:40687815-40687815
45 MAFB NM_005461.5(MAFB):c.525C>G (p.Ser175Arg)SNV Uncertain significance 338409 rs886056674 20:39316966-39316966 20:40688326-40688326
46 MAFB NM_005461.5(MAFB):c.189G>A (p.Pro63=)SNV Uncertain significance 338412 rs201590858 20:39317302-39317302 20:40688662-40688662
47 MAFB NM_005461.5(MAFB):c.-77C>GSNV Uncertain significance 338414 rs886056675 20:39317567-39317567 20:40688927-40688927
48 MAFB NM_005461.5(MAFB):c.-229C>TSNV Uncertain significance 338419 rs886056677 20:39317719-39317719 20:40689079-40689079
49 MAFB NM_005461.5(MAFB):c.*1751C>TSNV Uncertain significance 338376 rs886056656 20:39314768-39314768 20:40686128-40686128
50 MAFB NM_005461.5(MAFB):c.*1592dupduplication Uncertain significance 338379 rs3215567 20:39314926-39314927 20:40686286-40686287

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

Sources

Expression for Multicentric Carpotarsal Osteolysis Syndrome

About this section
Search GEO for disease gene expression data for Multicentric Carpotarsal Osteolysis Syndrome.
Sources

Pathways for Multicentric Carpotarsal Osteolysis Syndrome

About this section

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

(show top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.96 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
2
ERK Signaling 63
Show member pathways
 13.76 TNFSF11 TNFRSF11A TNF IL6 IL1B IL11
3
PEDF Induced Signaling 63
Show member pathways
 13.59 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
4
Akt Signaling 63
Show member pathways
 13.32 TNFSF11 TNFRSF11A TNF IL6 IL1B IL11
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.22 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
6
PAK Pathway 63
Show member pathways
 13.19 TNFSF11 TNFRSF11A TNF IL6 IL1B IL11
7
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13 TNF IL6 IL1B CTSK CCL3
8
TRAF Pathway 63
Show member pathways
 12.55 TNFSF11 TNFRSF11B TNFRSF11A TNF IL1B
9
NF-kappaB Signaling 4
12.52 TNFSF11 TNFRSF11A TNF IL1B
10
RANK Signaling in Osteoclasts 63
Show member pathways
 12.38 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
11
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.31 TNF IL6 CSF1 CCL3
12
Folate Metabolism 1
Show member pathways
 12.31 TNF IL6 IL1B CSF1
13
Bacterial infections in CF airways 22
Show member pathways
 12.17 TNF IL6 IL1B IL11
14
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.98 TNF IL6 IL11 CSF1
15
Yersinia infection 36
11.97 TNF IL6 IL1B
16
Spinal Cord Injury 1
11.96 TNF IL6 IL1B
17
TNF signaling pathway 36
11.96 TNF IL6 IL1B CSF1
18
Interleukin-4 and 13 signaling 65
11.94 TNF IL6 IL1B
19
Parathyroid hormone synthesis, secretion and action 36
11.92 TNFSF11 PTHLH MAFB BGLAP
20
Senescence and Autophagy in Cancer 1
11.91 IL6 IL1B CCL3
21
IL27-mediated signaling events 1
Show member pathways
 11.9 TNF IL6 IL1B
22
NF-kappa B signaling pathway 36
11.89 TNFSF11 TNFRSF11A TNF IL1B
23
Amoebiasis 36
11.88 TNF IL6 IL1B
24
AGE-RAGE signaling pathway in diabetic complications 36
11.87 TNF IL6 IL1B
25
Osteoclast differentiation 36
11.87 TNFSF11 TNFRSF11B TNFRSF11A TNF IL1B CTSK
26
Hematopoietic cell lineage 36
11.83 TNF IL6 IL1B IL11 CSF1
27
Innate Lymphoid Cells Differentiation 64
11.77 TNF IL1B CCL3
28
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.77 TNFSF11 TNFRSF11B TNFRSF11A TNF
29
Pertussis 36
11.74 TNF IL6 IL1B
30
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.72 TNFSF11 TNFRSF11A TNF
31
Dendritic Cells Developmental Lineage Pathway 64
11.72 TNF IL6 IL1B CSF1
32
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.65 TNF IL6 IL1B
33
Lung fibrosis 1
11.61 TNF IL6 IL1B CCL3
34
Legionellosis 36
11.6 TNF IL6 IL1B
35
Malaria 36
11.54 TNF IL6 IL1B
36
MSP-RON Signaling 63
11.52 TNF IL1B CSF1
37
Hematopoietic Stem Cell Differentiation 1
11.51 IL6 IL1B CSF1
38
Differentiation Pathway 1
11.48 TNFSF11 IL6 IL11 CSF1
39
Monoamine Transport 1
Show member pathways
 11.46 TNFRSF11B TNF IL1B
40
Interleukin-10 signaling 65
11.46 TNF IL6 IL1B CSF1 CCL3
41
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.41 TNFSF11 PTHLH BGLAP
42
African trypanosomiasis 36
11.38 TNF IL6 IL1B
43
IL-10 Pathway 63
11.35 TNF IL6 IL1B
44
Development and heterogeneity of the ILC family 1
11.31 TNF IL6 IL1B
45
Rheumatoid arthritis 36
11.29 TNFSF11 TNFRSF11A TNF IL6 IL1B IL11
46
Antifolate resistance 36
11.28 TNF IL6 IL1B
47
Cytokines and Inflammatory Response 1
11.18 TNF IL6 IL1B IL11 CSF1
48
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.15 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
49
Overview of nanoparticle effects 1
10.99 TNF IL6
50
G-protein signaling_Rap2B regulation pathway 22
10.92 TNFSF11 TNF IL6 IL1B IL11 CSF1
Sources

GO Terms for Multicentric Carpotarsal Osteolysis Syndrome

About this section

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 9.7 TNFSF11 TNFRSF11B TNF PTHLH IL6 IL1B
2 extracellular space GO:0005615 9.36 TNFSF11 TNFRSF11B TNF PTHLH IL6 IL1B

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.23 TNFRSF11B TNFRSF11A PTHLH IL6 IL1B IL11
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 TNFSF11 TNF MAFB IL6 IL1B IL11
3 inflammatory response GO:0006954 10 TNF IL6 IL1B CSF1 CCL3
4 positive regulation of cell proliferation GO:0008284 9.97 TNFRSF11A PTHLH IL6 IL1B IL11 CSF1
5 cell-cell signaling GO:0007267 9.96 TNFRSF11A PTHLH IL1B CCL3
6 immune response GO:0006955 9.93 TNFSF11 TNF IL6 IL1B CTSK CCL3
7 positive regulation of gene expression GO:0010628 9.91 TNFSF11 TNF IL6 IL1B CSF1 CCL3
8 defense response to Gram-positive bacterium GO:0050830 9.86 TNF IL6 ACP5
9 tumor necrosis factor-mediated signaling pathway GO:0033209 9.86 TNFSF11 TNFRSF11B TNFRSF11A TNF
10 positive regulation of inflammatory response GO:0050729 9.85 TNF IL1B CCL3
11 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.85 TNF IL6 IL11
12 positive regulation of JNK cascade GO:0046330 9.84 TNFSF11 TNF IL1B
13 cellular response to organic cyclic compound GO:0071407 9.83 TNF IL1B CCL3
14 ossification GO:0001503 9.83 TNFSF11 TNFRSF11A BGLAP ACP5
15 response to glucocorticoid GO:0051384 9.82 TNF IL6 BGLAP
16 positive regulation of interleukin-6 production GO:0032755 9.81 TNF IL6 IL1B
17 protein kinase B signaling GO:0043491 9.77 TNF IL1B CCL3
18 lipopolysaccharide-mediated signaling pathway GO:0031663 9.76 TNF IL1B CCL3
19 negative regulation of neurogenesis GO:0050768 9.72 TNF IL6 IL1B
20 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 TNFSF11 TNFRSF11A TNF IL6 IL1B
21 osteoblast development GO:0002076 9.71 PTHLH BGLAP
22 mammary gland alveolus development GO:0060749 9.71 TNFSF11 TNFRSF11A
23 bone resorption GO:0045453 9.71 TNFSF11 CTSK ACP5
24 negative regulation of lipid catabolic process GO:0050995 9.7 TNF IL1B
25 astrocyte activation GO:0048143 9.7 TNF IL1B
26 response to inorganic substance GO:0010035 9.7 TNFRSF11B BGLAP
27 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.7 TNF IL1B
28 negative regulation of bone resorption GO:0045779 9.69 TNFRSF11B IL6
29 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.69 TNF IL1B
30 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 TNF IL1B
31 positive regulation of osteoclast differentiation GO:0045672 9.69 TNFSF11 TNF CSF1
32 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.68 TNF IL6
33 positive regulation of chemokine biosynthetic process GO:0045080 9.68 TNF IL1B
34 negative regulation of lipid storage GO:0010888 9.67 TNF IL6
35 regulation of establishment of endothelial barrier GO:1903140 9.66 TNF IL1B
36 positive regulation of microglial cell migration GO:1904141 9.65 CSF1 CCL3
37 positive regulation of glial cell proliferation GO:0060252 9.65 TNF IL6 IL1B
38 positive regulation of fever generation GO:0031622 9.64 TNF IL1B
39 TNFSF11-mediated signaling pathway GO:0071847 9.62 TNFSF11 TNFRSF11A
40 sequestering of triglyceride GO:0030730 9.62 TNF IL1B
41 osteoclast proliferation GO:0002158 9.61 TNFSF11 CSF1
42 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.6 TNF IL1B
43 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.58 TNFSF11 TNFRSF11A
44 regulation of osteoclast differentiation GO:0045670 9.58 TNFSF11 TNF BGLAP
45 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.57 TNFSF11 TNFRSF11A
46 monocyte chemotaxis GO:0002548 9.56 TNFSF11 TNFRSF11A IL6 CCL3
47 positive regulation of DNA-binding transcription factor activity GO:0051091 9.55 TNFSF11 TNFRSF11A TNF IL6 IL1B
48 positive regulation of neuroinflammatory response GO:0150078 9.54 TNF IL6 IL1B
49 osteoclast differentiation GO:0030316 9.26 TNFSF11 TNFRSF11A TNF CSF1
50 cytokine-mediated signaling pathway GO:0019221 9.17 TNFSF11 TNF IL6 IL1B IL11 CSF1

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 9.23 TNFSF11 TNFRSF11B TNF IL6 IL1B IL11
Sources

Sources for Multicentric Carpotarsal Osteolysis Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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