MCTO
MCID: MLT092
MIFTS: 64

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 12 20 73 36 13 15
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 12 20 58 29 6
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy 57 44 71
Idiopathic Multicentric Osteolysis with or Without Nephropathy 12 20 58
Mcto 57 12 73
Hereditary Osteolysis of Carpal Bones with or Without Nephropathy 12 73
Autosomal Dominant Multicentric Osteolysis 12 73
Osteolysis 44 32
Syndrome, Osteolysis, Carpotarsal, Multicentric 39
Multicentric Osteolysis, Autosomal Dominant 57
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®:

57 (Updated 05-Mar-2021)
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


External Ids:

Disease Ontology 12 DOID:0111534
OMIM® 57 166300
KEGG 36 H01865
SNOMED-CT 67 766992008
ICD10 32 M89.5
UMLS via Orphanet 72 C2674705
Orphanet 58 ORPHA2774
MedGen 41 C2674705
UMLS 71 C0221204 C2674705

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 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 PEDF Induced Signaling. The drugs Zoledronic Acid and Denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and prostate, and related phenotypes are gait disturbance and proteinuria

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.

GARD : 20 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) (Updated 05-Mar-2021)

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 (MCTO) is a rare autosomal dominant condition. This... 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 789)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 32.8 TNFSF11 TNFRSF11B TNFRSF11A
2 gorham's disease 32.2 TNFSF11 IL6
3 mammary paget's disease 30.1 TNFSF11 TNFRSF11B TNFRSF11A BGLAP ACP5
4 pycnodysostosis 29.9 TNFSF11 CTSK ACP5
5 sclerosteosis 29.9 TNFSF11 CTSK BGLAP
6 fibrous dysplasia 29.8 TNFSF11 TNFRSF11A PTHLH BGLAP
7 hyperparathyroidism 29.8 TNFSF11 TNFRSF11B PTHLH BGLAP ACP5
8 back pain 29.8 IL6 IL1B
9 renal osteodystrophy 29.8 TNFSF11 TNFRSF11B BGLAP
10 bone giant cell tumor 29.7 TNFSF11 CTSK CSF1 ACP5
11 juvenile rheumatoid arthritis 29.7 TNF IL6 IL1B BGLAP
12 multicentric reticulohistiocytosis 29.7 TNFSF11 TNFRSF11B CSF1
13 secondary hyperparathyroidism 29.6 TNFRSF11B BGLAP ACP5
14 sarcoidosis 1 29.5 TNF IL1B CCL3
15 ankylosis 29.5 TNFSF11 TNFRSF11B TNF BGLAP
16 psoriatic arthritis 29.5 TNFSF11 TNF IL6 IL1B
17 primary hyperparathyroidism 29.4 TNFSF11 PTHLH IL6 BGLAP
18 cellulitis 29.3 TNFSF11 TNF IL6
19 scorpion envenomation 29.3 TNF IL6
20 vascular disease 29.3 TNFRSF11B TNFRSF11A TNF IL6
21 myeloma, multiple 29.2 TNFSF11 TNF MAFB IL6 IL1B CCL3
22 glucocorticoid-induced osteoporosis 29.2 TNFSF11 TNFRSF11B CSF1 BGLAP ACP5
23 leprosy 3 29.2 TNF IL6 IL1B
24 allergic disease 29.2 TNF IL6 IL1B
25 osteonecrosis 29.2 TNFSF11 TNFRSF11B TNF IL1B BGLAP ACP5
26 osteogenic sarcoma 29.1 TNFSF11 TNFRSF11B TNF PTHLH IL6 BGLAP
27 arthropathy 29.1 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
28 otitis media 29.1 TNF IL6 IL1B
29 spondylitis 29.1 TNFSF11 TNF IL6 IL1B
30 gout 29.0 TNF IL6 IL1B
31 synovitis 29.0 TNFSF11 TNFRSF11B TNF IL6 IL1B ACP5
32 benign giant cell tumor 29.0 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1 BGLAP
33 proteasome-associated autoinflammatory syndrome 1 29.0 TNF IL6 IL1B CCL3
34 bone inflammation disease 29.0 TNFSF11 TNF IL6 IL1B ACP5
35 osteomyelitis 29.0 TNFSF11 TNF IL6 IL1B CTSK ACP5
36 spondyloarthropathy 28.9 TNFSF11 TNF IL6 IL1B
37 tenosynovitis 28.9 TNF IL6 IL1B
38 tendinitis 28.9 TNF IL6 IL1B ACP5
39 candidiasis 28.9 TNF IL6 IL1B
40 actinomycosis 28.9 TNF IL6 IL1B
41 apnea, obstructive sleep 28.9 TNF IL6 IL1B
42 temporal arteritis 28.9 TNF IL6 IL1B
43 toxic shock syndrome 28.9 TNF IL6 IL1B
44 spondyloarthropathy 1 28.8 TNFSF11 TNFRSF11B TNF IL6 BGLAP
45 sleep apnea 28.8 TNF IL6 IL1B
46 bronchiectasis 28.8 TNF IL6 IL1B
47 keratitis, hereditary 28.8 TNF IL6 IL1B
48 root resorption 28.8 TNFSF11 TNFRSF11B TNFRSF11A IL6 IL1B CTSK
49 scoliosis 28.8 TNFSF11 TNFRSF11B TNFRSF11A IL6 CTSK BGLAP
50 myositis 28.7 TNF IL6 IL1B

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 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
5 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
6 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
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 hypertension 31 HP:0000822
21 osteopenia 31 HP:0000938
22 renal insufficiency 31 HP:0000083
23 arthralgia 31 HP:0002829
24 hypoplasia of the maxilla 31 HP:0000327
25 pes cavus 31 HP:0001761
26 osteolysis 58 Very frequent (99-80%)
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®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
hypertension
nephropathy
renal failure

Laboratory Abnormalities:
proteinuria

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

Muscle Soft Tissue:
wrist swelling
ankle swelling

Skeletal:
osteopenia

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 (Updated 05-Mar-2021)

UMLS symptoms related to Multicentric Carpotarsal Osteolysis Syndrome:


wrist pain, ankle pain

MGI Mouse Phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

46 (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

Drugs & Therapeutics for Multicentric Carpotarsal Osteolysis Syndrome

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 4 118072-93-8 68740
2
Denosumab Approved Phase 2 615258-40-7
3
Clodronate Approved, Investigational, Vet_approved Phase 2 10596-23-3 25419
4
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
5 Pharmaceutical Solutions Phase 2
6 Diphosphonates Phase 2
7 Liver Extracts Phase 2
8
Chromium Approved 7440-47-3 27668
9
Cobalt Approved, Experimental 7440-48-4 104729
10
Pamidronate Approved 40391-99-9 4674
11
Tocopherol Approved, Investigational 1406-66-2
12
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
13 Tocotrienol Investigational 6829-55-6
14 Trace Elements
15 Nutrients
16 Micronutrients
17 Analgesics
18 Anesthetics
19 Mitogens
20 Endothelial Growth Factors
21 Vitamins
22 Tocotrienols
23 Tocopherols

Interventional clinical trials:

(show all 21)
# 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 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
3 Denosumab for Treating Periprosthetic Osteolysis After Uncemented Total Hip Arthroplasty A Randomized, Double-blind, Placebo-controlled Trial Using Volumetric Computed Tomography Unknown status NCT02299817 Phase 2 Denosumab;Placebo
4 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
5 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
6 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
7 Tumor Ablation in Metastatic Sarcoma Stable on Chemotherapy Terminated NCT01986829 Phase 2
8 Evaluation of Periodontal Health of the Abutment Teeth in Partial Dentures Made of Injection Molded PEEK Framework Versus Cobalt Chromium Framework in Mandibular Kennedy Class I Edentulous Cases Unknown status NCT03777345
9 Evaluation of Biting Force of Removable Partial Denture Made of Injection Molded PEEK Framework Versus Cobalt Chromium Framework in Mandibular Kennedy Class I Edentulous Cases Unknown status NCT03777423
10 Osteolysis Development Over Time Around Uncemented Titanium Fiber Mesh Cups With or Without Screw Holes Completed NCT03692351
11 Bisphosphonates in Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) Spectrum Disorder - an Alternative Therapeutic Approach Completed NCT02823925 Pamidronate or Zoledronate
12 CT for Diagnosis of Implant Stability in Revision Arthroplasty Completed NCT00367289
13 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)
14 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
15 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
16 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
17 Randomized Evaluation of Metal-on-conventional-polyethylene vs Ceramic-on-ceramic Articulating Surfaces in Uncemented Total Hip Arthroplasty: A Radiostereometry Study Including 104 Patients Active, not recruiting NCT03692364
18 Randomised Prospective Multicenter Longterm-Evaluation of the Survival Rate of the Implant, Wear and Periprosthetic Osteolysis of Highly Cross-linked Polyethylene With and Without Addition of Vitamin E (UHMWPE-XE vs. UHMWPE-X) Active, not recruiting NCT01713062
19 Prospective, Multi-centric, Comparative, Long-term Clinical Follow-Up Study for the Evidence of Safety and Performance Indicators of the Plasmafit® Revision Structan® Hip Endoprosthesis Cup Not yet recruiting NCT04255966
20 Prospective Multicenter Open Label Study Examining the Short-term Safety and Efficacy of the Modular Revision Hip System (MRHS) Terminated NCT01464645
21 Investigation of Systemic Metal Ion Concentration Following a Ceramic-on-metal Total Hip Arthroplasty Withdrawn NCT00883805

Search NIH Clinical Center for Multicentric Carpotarsal Osteolysis Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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 Carpo-Tarsal Osteolysis with or Without Nephropathy 29 MAFB

Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

40
Bone, Breast, Prostate, Endothelial, Liver, Bone Marrow, Monocytes

Publications for Multicentric Carpotarsal Osteolysis Syndrome

Articles related to Multicentric Carpotarsal Osteolysis Syndrome:

(show top 50) (show all 235)
# Title Authors PMID Year
1
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 57 6
22387013 2012
2
Carpo-tarsal osteolysis. Case report and review of the literature. 57
8471218 1993
3
Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. 57
1776642 1991
4
Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 57
3041835 1988
5
Idiopathic multicentric osteolysis with facial anomalies and nephropathy. 57
3591830 1987
6
Idiopathic multicentric osteolysis with acro-osteolysis. A case report. 57
3968151 1985
7
[Essential osteolysis with carpal and tarsal onset]. 57
7183750 1982
8
Idiopathic multicentric osteolysis in a 78-year-old woman. 57
7206409 1981
9
Nephropathy of idiopathic multicentric osteolysis. 57
7360298 1980
10
Idiopathic multicentric osteolysis. Report of an affected father and son. 57
646835 1978
11
Multifocal osteolysis with nephropathy. 57
999328 1976
12
Idiopathic multicentric osteolysis. 57
175680 1976
13
Hereditary osteolysis. A clinical, radiological and chemical study. 57
4709054 1973
14
Familial osteolysis of the carpal and tarsal bones. 57
4261959 1972
15
Hereditary multicentric osteolysis with recessive transmission: a new syndrome. 57
5795345 1969
16
Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome. 57
5722853 1968
17
OSTEOARTICULAR CHANGES IN A CASE OF ESSENTIAL OSTEOLYSIS; AN ANATOMICAL AND RADIOLOGICAL STUDY. 57
14302739 1965
18
HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. 57
14114021 1964
19
[A special form of essential hereditary and familial osteolysis originating in early childhood and stabilizing spontaneously in later years]. 57
13623687 1958
20
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. 57
13263344 1955
21
[Multicentric carpotarsal osteolysis in a rheumatologist's practice]. 20
26027247 2015
22
Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab. 61
33506078 2021
23
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
24
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. 61
30430035 2018
25
Three cases of multicentric carpotarsal osteolysis syndrome: a case series. 61
30208859 2018
26
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. 61
29396697 2018
27
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian. 61
30305815 2018
28
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. 61
29675035 2018
29
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
30
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 61
23670161 2013
31
Inhibition of RANKL increases the anti-tumor effect of the EGFR inhibitor panitumumab in a murine model of bone metastasis. 54
20215062 2010
32
Osteopontin deficiency impairs wear debris-induced osteolysis via regulation of cytokine secretion from murine macrophages. 54
20155835 2010
33
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
34
In vitro studies of multiwalled carbon nanotube/ultrahigh molecular weight polyethylene nanocomposites with osteoblast-like MG63 cells. 54
20490435 2010
35
Comparison of low-intensity pulsed ultrasound and pulsed electromagnetic field treatments on OPG and RANKL expression in human osteoblast-like cells. 54
20050743 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
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
38
Vitamin D deficiency promotes human breast cancer growth in a murine model of bone metastasis. 54
20160035 2010
39
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 54
19653001 2010
40
The roles of monocytic heat shock protein 60 and Toll-like receptors in the regional inflammation response to wear debris particles. 54
19353569 2010
41
Soluble TRAIL could enhance bone destruction acting on Rank-ligand in estrogen-independent human breast cancer cell line MDA-MB-231. 54
19058836 2010
42
Runx2 association with progression of prostate cancer in patients: mechanisms mediating bone osteolysis and osteoblastic metastatic lesions. 54
19915614 2010
43
Possible role of matrix metalloproteinase in osteolytic intracranial meningiomas. 54
20157372 2010
44
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
45
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
46
Bone biology and the role of the RANK ligand pathway. 54
20128323 2009
47
Breaking down bone: new insight into site-specific mechanisms of breast cancer osteolysis mediated by metalloproteinases. 54
19759260 2009
48
Osteoclast-derived matrix metalloproteinase-7, but not matrix metalloproteinase-9, contributes to tumor-induced osteolysis. 54
19679556 2009
49
A novel function of CXCL13 to stimulate RANK ligand expression in oral squamous cell carcinoma cells. 54
19671684 2009
50
Bio-corrosion of stainless steel by osteoclasts--in vitro evidence. 54
19105228 2009

Variations for Multicentric Carpotarsal Osteolysis Syndrome

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.185C>T (p.Thr62Ile) SNV Pathogenic 803608 rs1600429262 20:39317306-39317306 20:40688666-40688666
7 MAFB NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) SNV Pathogenic 807627 rs387907004 20:39317307-39317307 20:40688667-40688667
8 MAFB NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) SNV Pathogenic 30773 rs730880014 20:39317330-39317330 20:40688690-40688690
9 MAFB NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) SNV Likely pathogenic 813951 rs1600429244 20:39317294-39317294 20:40688654-40688654
10 MAFB NM_005461.5(MAFB):c.*1519C>A SNV Uncertain significance 894982 20:39315000-39315000 20:40686360-40686360
11 MAFB NM_005461.5(MAFB):c.648C>T (p.Leu216=) SNV Uncertain significance 895055 20:39316843-39316843 20:40688203-40688203
12 MAFB NM_005461.5(MAFB):c.420C>T (p.His140=) SNV Uncertain significance 895056 20:39317071-39317071 20:40688431-40688431
13 MAFB NM_005461.5(MAFB):c.393C>A (p.His131Gln) SNV Uncertain significance 895057 20:39317098-39317098 20:40688458-40688458
14 MAFB NM_005461.5(MAFB):c.*1255C>T SNV Uncertain significance 338387 rs573637366 20:39315264-39315264 20:40686624-40686624
15 MAFB NM_005461.5(MAFB):c.*929del Deletion Uncertain significance 338394 rs11482617 20:39315590-39315590 20:40686950-40686950
16 MAFB NM_005461.5(MAFB):c.-77C>G SNV Uncertain significance 338414 rs886056675 20:39317567-39317567 20:40688927-40688927
17 MAFB NM_005461.5(MAFB):c.*1803C>T SNV Uncertain significance 338374 rs779945829 20:39314716-39314716 20:40686076-40686076
18 MAFB NM_005461.5(MAFB):c.329C>A (p.Ala110Glu) SNV Uncertain significance 895059 20:39317162-39317162 20:40688522-40688522
19 MAFB NM_005461.5(MAFB):c.*1171A>C SNV Uncertain significance 896425 20:39315348-39315348 20:40686708-40686708
20 MAFB NM_005461.5(MAFB):c.*1019A>C SNV Uncertain significance 896426 20:39315500-39315500 20:40686860-40686860
21 MAFB NM_005461.5(MAFB):c.224C>A (p.Pro75Gln) SNV Uncertain significance 896499 20:39317267-39317267 20:40688627-40688627
22 MAFB NM_005461.5(MAFB):c.153A>G (p.Pro51=) SNV Uncertain significance 896500 20:39317338-39317338 20:40688698-40688698
23 MAFB NM_005461.5(MAFB):c.-76C>A SNV Uncertain significance 896501 20:39317566-39317566 20:40688926-40688926
24 MAFB NM_005461.5(MAFB):c.-82T>G SNV Uncertain significance 896502 20:39317572-39317572 20:40688932-40688932
25 MAFB NM_005461.5(MAFB):c.*791C>G SNV Uncertain significance 898052 20:39315728-39315728 20:40687088-40687088
26 MAFB NM_005461.5(MAFB):c.*565C>T SNV Uncertain significance 898053 20:39315954-39315954 20:40687314-40687314
27 MAFB NM_005461.5(MAFB):c.*415G>A SNV Uncertain significance 898054 20:39316104-39316104 20:40687464-40687464
28 MAFB NM_005461.5(MAFB):c.*367G>A SNV Uncertain significance 898055 20:39316152-39316152 20:40687512-40687512
29 MAFB NM_005461.5(MAFB):c.-130C>T SNV Uncertain significance 898124 20:39317620-39317620 20:40688980-40688980
30 MAFB NM_005461.5(MAFB):c.-211A>C SNV Uncertain significance 898125 20:39317701-39317701 20:40689061-40689061
31 MAFB NM_005461.5(MAFB):c.-222G>T SNV Uncertain significance 898126 20:39317712-39317712 20:40689072-40689072
32 MAFB NM_005461.5(MAFB):c.-225C>G SNV Uncertain significance 898127 20:39317715-39317715 20:40689075-40689075
33 MAFB NM_005461.5(MAFB):c.*64C>T SNV Uncertain significance 338406 rs886056673 20:39316455-39316455 20:40687815-40687815
34 MAFB NM_005461.5(MAFB):c.525C>G (p.Ser175Arg) SNV Uncertain significance 338409 rs886056674 20:39316966-39316966 20:40688326-40688326
35 MAFB NM_005461.5(MAFB):c.189G>A (p.Pro63=) SNV Uncertain significance 338412 rs201590858 20:39317302-39317302 20:40688662-40688662
36 MAFB NM_005461.5(MAFB):c.*1212_*1213insGAGGA Insertion Uncertain significance 338389 rs886056663 20:39315306-39315307 20:40686666-40686667
37 MAFB NM_005461.5(MAFB):c.*1787T>C SNV Uncertain significance 338375 rs749002713 20:39314732-39314732 20:40686092-40686092
38 MAFB NM_005461.5(MAFB):c.*976G>A SNV Uncertain significance 338392 rs886056664 20:39315543-39315543 20:40686903-40686903
39 MAFB NM_005461.5(MAFB):c.*1679C>T SNV Uncertain significance 338378 rs886056657 20:39314840-39314840 20:40686200-40686200
40 MAFB NM_005461.5(MAFB):c.*881G>T SNV Uncertain significance 338395 rs886056666 20:39315638-39315638 20:40686998-40686998
41 MAFB NM_005461.5(MAFB):c.*410G>A SNV Uncertain significance 338398 rs886056668 20:39316109-39316109 20:40687469-40687469
42 MAFB NM_005461.5(MAFB):c.-138G>T SNV Uncertain significance 338415 rs755784104 20:39317628-39317628 20:40688988-40688988
43 MAFB NM_005461.5(MAFB):c.-338A>G SNV Uncertain significance 338421 rs886056678 20:39317828-39317828 20:40689188-40689188
44 MAFB NM_005461.5(MAFB):c.*1591T>C SNV Uncertain significance 338381 rs886056659 20:39314928-39314928 20:40686288-40686288
45 MAFB NM_005461.5(MAFB):c.*1519C>G SNV Uncertain significance 338384 rs185930615 20:39315000-39315000 20:40686360-40686360
46 MAFB NM_005461.5(MAFB):c.*229A>G SNV Uncertain significance 338401 rs886056671 20:39316290-39316290 20:40687650-40687650
47 MAFB NM_005461.5(MAFB):c.*1210G>A SNV Uncertain significance 338390 rs542788257 20:39315309-39315309 20:40686669-40686669
48 MAFB NM_005461.5(MAFB):c.399C>T (p.His133=) SNV Uncertain significance 338410 rs762729675 20:39317092-39317092 20:40688452-40688452
49 MAFB NM_005461.5(MAFB):c.*1751C>T SNV Uncertain significance 338376 rs886056656 20:39314768-39314768 20:40686128-40686128
50 MAFB NM_005461.5(MAFB):c.*1592dup Duplication 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

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
2
Show member pathways
13.6 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
3
Show member pathways
13.32 TNFSF11 TNFRSF11A TNF IL6 IL1B CSF1
4
Show member pathways
13.2 TNFSF11 TNFRSF11A TNF IL6 IL1B CSF1
5
Show member pathways
13.17 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
6
Show member pathways
12.99 TNF IL6 IL1B CTSK CCL3
7 12.51 TNFSF11 TNFRSF11A TNF IL1B
8
Show member pathways
12.51 TNFSF11 TNFRSF11B TNFRSF11A TNF IL1B
9
Show member pathways
12.34 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
10
Show member pathways
12.3 TNF IL6 CSF1 CCL3
11
Show member pathways
12.3 TNF IL6 IL1B CSF1
12 12.02 TNF IL6 IL1B
13 11.96 TNF IL6 IL1B
14 11.95 TNF IL6 CSF1
15 11.93 TNF IL6 IL1B
16 11.93 TNF IL6 IL1B CSF1
17 11.9 IL6 IL1B CCL3
18 11.89 TNFSF11 PTHLH MAFB BGLAP
19 11.88 TNF IL6 IL1B
20 11.88 TNFSF11 TNFRSF11A TNF IL1B
21 11.87 TNFSF11 TNFRSF11B TNFRSF11A TNF IL1B CTSK
22 11.86 TNF IL6 IL1B
23 11.83 TNF IL6 IL1B CSF1
24 11.76 TNF IL1B CCL3
25
Show member pathways
11.74 TNF IL6 IL1B
26 11.73 TNF IL6 IL1B
27
Show member pathways
11.73 TNFSF11 TNFRSF11B TNFRSF11A TNF
28
Show member pathways
11.71 TNFSF11 TNFRSF11A TNF
29 11.66 TNF IL6 IL1B CSF1
30
Show member pathways
11.64 TNF IL6 IL1B
31 11.59 TNF IL6 IL1B
32 11.53 TNF IL6 IL1B
33 11.53 TNF IL6 IL1B CCL3
34 11.5 TNF IL1B CSF1
35 11.5 IL6 IL1B CSF1
36 11.49 TNFSF11 IL6 CSF1
37
Show member pathways
11.44 TNFRSF11B TNF IL1B
38 11.41 TNF IL6 IL1B CSF1 CCL3
39 11.39 TNFSF11 PTHLH BGLAP
40 11.36 TNF IL6 IL1B
41 11.33 TNF IL6 IL1B
42 11.29 TNF IL6 IL1B
43 11.27 TNF IL6 IL1B
44 11.24 TNFSF11 TNFRSF11A TNF IL6 IL1B CTSK
45 11.17 TNF IL6 IL1B CSF1
46 11.15 TNFSF11 TNFRSF11B TNFRSF11A TNF IL6 IL1B
47 10.99 TNF IL6
48 10.9 TNFSF11 TNF IL6 IL1B CSF1 CCL3
49 10.87 TNF IL1B CSF1 CCL3
50 10.86 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5

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 9.65 TNFSF11 TNFRSF11B TNF PTHLH IL6 IL1B
2 extracellular space GO:0005615 9.32 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 CSF1
2 positive regulation of cell proliferation GO:0008284 10.05 TNFRSF11A PTHLH IL6 IL1B CSF1
3 inflammatory response GO:0006954 10 TNF IL6 IL1B CSF1 CCL3
4 positive regulation of gene expression GO:0010628 9.95 TNFSF11 TNF IL6 IL1B CSF1 CCL3
5 cell-cell signaling GO:0007267 9.94 TNFRSF11A PTHLH IL1B CCL3
6 immune response GO:0006955 9.93 TNFSF11 TNF IL6 IL1B CTSK CCL3
7 skeletal system development GO:0001501 9.88 TNFRSF11B PTHLH BGLAP
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.86 TNFSF11 TNFRSF11B TNFRSF11A TNF
9 positive regulation of inflammatory response GO:0050729 9.85 TNF IL1B CCL3
10 positive regulation of interleukin-6 production GO:0032755 9.85 TNF IL6 IL1B
11 positive regulation of JNK cascade GO:0046330 9.85 TNFSF11 TNF IL1B
12 regulation of insulin secretion GO:0050796 9.84 TNF IL6 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-8 production GO:0032757 9.81 TNF IL6 IL1B
17 positive regulation of interleukin-1 beta production GO:0032731 9.8 TNF IL6 CCL3
18 protein kinase B signaling GO:0043491 9.77 TNF IL1B CCL3
19 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.77 TNFSF11 TNFRSF11A TNF IL6 IL1B
20 lipopolysaccharide-mediated signaling pathway GO:0031663 9.76 TNF IL1B CCL3
21 negative regulation of neurogenesis GO:0050768 9.72 TNF IL6 IL1B
22 positive regulation of bone resorption GO:0045780 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 osteoblast development GO:0002076 9.7 PTHLH BGLAP
26 mammary gland alveolus development GO:0060749 9.7 TNFSF11 TNFRSF11A
27 negative regulation of bone resorption GO:0045779 9.7 TNFRSF11B IL6
28 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 TNF IL1B
29 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 TNF IL1B
30 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.69 TNF IL6
31 positive regulation of osteoclast differentiation GO:0045672 9.69 TNFSF11 TNF CSF1
32 response to inorganic substance GO:0010035 9.68 TNFRSF11B BGLAP
33 regulation of establishment of endothelial barrier GO:1903140 9.67 TNF IL1B
34 negative regulation of lipid storage GO:0010888 9.67 TNF IL6
35 positive regulation of glial cell proliferation GO:0060252 9.67 TNF IL6 IL1B
36 positive regulation of microglial cell migration GO:1904141 9.66 CSF1 CCL3
37 positive regulation of fever generation GO:0031622 9.63 TNF IL1B
38 cytokine-mediated signaling pathway GO:0019221 9.63 TNFSF11 TNF IL6 IL1B CSF1 CCL3
39 TNFSF11-mediated signaling pathway GO:0071847 9.62 TNFSF11 TNFRSF11A
40 sequestering of triglyceride GO:0030730 9.62 TNF IL1B
41 monocyte chemotaxis GO:0002548 9.62 TNFSF11 TNFRSF11A IL6 CCL3
42 osteoclast proliferation GO:0002158 9.61 TNFSF11 CSF1
43 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.61 TNF IL1B
44 regulation of osteoclast differentiation GO:0045670 9.61 TNFSF11 TNF BGLAP
45 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.58 TNFSF11 TNFRSF11A
46 positive regulation of neuroinflammatory response GO:0150078 9.58 TNF IL6 IL1B
47 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.57 TNFSF11 TNFRSF11A
48 vascular endothelial growth factor production GO:0010573 9.43 TNF IL6 IL1B
49 positive regulation of DNA-binding transcription factor activity GO:0051091 9.35 TNFSF11 TNFRSF11A TNF IL6 IL1B
50 osteoclast differentiation GO:0030316 8.92 TNFSF11 TNFRSF11A TNF 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 9.17 TNFSF11 TNFRSF11B TNF IL6 IL1B CSF1

Sources for Multicentric Carpotarsal Osteolysis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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