MCID: ANR009
MIFTS: 43

Aneurysmal Bone Cysts

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Aneurysmal Bone Cysts

MalaCards integrated aliases for Aneurysmal Bone Cysts:

Name: Aneurysmal Bone Cysts 56 52 13 37
Aneurysmal Bone Cyst 58 29 17 32
Bone Cysts, Aneurysmal 71
Bone Cysts Aneurysmal 54

Classifications:

Orphanet: 58  
Rare bone diseases


External Ids:

OMIM 56 606179
ICD10 32 M85.5
Orphanet 58 ORPHA480553
MedGen 41 C0152244
UMLS 71 C0152244

Summaries for Aneurysmal Bone Cysts

MalaCards based summary : Aneurysmal Bone Cysts, also known as aneurysmal bone cyst, is related to telangiectatic osteogenic sarcoma and pseudosarcomatous fibromatosis, and has symptoms including pain An important gene associated with Aneurysmal Bone Cysts is ANBC (Aneurysmal Bone Cysts), and among its related pathways/superpathways are Neuroscience and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. The drug Denosumab has been mentioned in the context of this disorder. Affiliated tissues include Bone, endothelial and bone marrow.

Wikipedia : 74 Aneurysmal bone cyst, abbreviated ABC, is an osteolytic bone neoplasm characterized by several... more...

More information from OMIM: 606179

Related Diseases for Aneurysmal Bone Cysts

Diseases related to Aneurysmal Bone Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 telangiectatic osteogenic sarcoma 31.1 USP6 CDH11
2 pseudosarcomatous fibromatosis 30.3 USP6 CDH11
3 proliferative fasciitis 30.2 USP6 CDH11
4 giant cell tumor 30.1 TNFSF11 TNFRSF11A CALCA
5 giant cell reparative granuloma 29.3 USP6 TNFSF11 TNFRSF11A CALCA
6 bone giant cell tumor 29.3 USP6 TNFSF11 TNFRSF11A CALCA
7 cherubism 29.3 USP6 TNFSF11 CALCA
8 tooth resorption 28.9 TNFSF11 TNFRSF11A CALCA
9 root resorption 28.6 TNFSF11 TNFRSF11A CALCA
10 mammary paget's disease 28.6 TNFSF11 TNFRSF11A CALCA
11 bone resorption disease 28.6 TNFSF11 TNFRSF11A CALCA
12 paget's disease of bone 28.5 TNFSF11 TNFRSF11A CALCA
13 bone cancer 28.4 TNFSF11 TNFRSF11A CALCA
14 fibrous dysplasia 10.8
15 osteogenic sarcoma 10.7
16 fibroma 10.6
17 chondroblastoma 10.6
18 osteoblastoma 10.6
19 ossifying fibroma 10.5
20 exophthalmos 10.5
21 back pain 10.4
22 paraplegia 10.4
23 chondromyxoid fibroma 10.3
24 myositis 10.3
25 hyperparathyroidism 10.3
26 myositis ossificans 10.3
27 solitary bone cyst 10.3
28 chondrosarcoma 10.2
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
30 hemangioma 10.2
31 fasciitis 10.2
32 headache 10.2
33 mccune-albright syndrome 10.2
34 scoliosis 10.2
35 chondroma 10.2
36 radiculopathy 10.2
37 juvenile ossifying fibroma 10.2
38 rare tumor 10.2
39 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
40 histiocytoma 10.1
41 fibrous histiocytoma 10.1
42 paresthesia 10.1
43 rare surgical neurologic disease 10.1
44 ischemic fasciitis 10.1 USP6 CDH11
45 torticollis 10.1
46 ameloblastoma 10.1
47 hydrocephalus 10.1
48 horner's syndrome 10.1
49 facial paralysis 10.1
50 fibrosarcomatous osteosarcoma 10.1

Graphical network of the top 20 diseases related to Aneurysmal Bone Cysts:



Diseases related to Aneurysmal Bone Cysts

Symptoms & Phenotypes for Aneurysmal Bone Cysts

Clinical features from OMIM:

606179

UMLS symptoms related to Aneurysmal Bone Cysts:


pain

Drugs & Therapeutics for Aneurysmal Bone Cysts

Drugs for Aneurysmal Bone Cysts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Denosumab Approved Phase 2 615258-40-7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Denosumab: A Potential Treatment Option for Aneurysmal Bone Cysts Completed NCT03415477 Phase 1, Phase 2 Denosumab (Xgeva)
2 Autologous Bone Tissue Constructed On Biodegradable Polymer for the Treatment of Aneurysmal Bone Cysts Recruiting NCT03066245 Phase 1, Phase 2
3 An Open-label, Multi-center, Phase 2 Study of Denosumab in Subjects With Giant Cell Rich Tumors of Bone Recruiting NCT03605199 Phase 2 Denosumab

Search NIH Clinical Center for Aneurysmal Bone Cysts

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Aneurysmal Bone Cysts cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Aneurysmal Bone Cysts:
Bone marrow-derived mesenchymal cell transplantation for bone cysts
Embryonic/Adult Cultured Cells Related to Aneurysmal Bone Cysts:
Bone marrow-derived mesenchymal stem cells (family)

Genetic Tests for Aneurysmal Bone Cysts

Genetic tests related to Aneurysmal Bone Cysts:

# Genetic test Affiliating Genes
1 Aneurysmal Bone Cyst 29

Anatomical Context for Aneurysmal Bone Cysts

MalaCards organs/tissues related to Aneurysmal Bone Cysts:

40
Bone, Endothelial, Bone Marrow, Breast, Spinal Cord, Kidney, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Aneurysmal Bone Cysts:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Aneurysmal Bone Cysts

Articles related to Aneurysmal Bone Cysts:

(show top 50) (show all 2156)
# Title Authors PMID Year
1
Translocation (16;17)(q22;p13) is a recurrent anomaly of aneurysmal bone cysts. 61 56
11408073 2001
2
Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts. 61 56
10502326 1999
3
Aneurysmal bone cysts. A clinicopathologic study of 66 cases. 61 56
5458269 1970
4
Percutaneous intralesional injection of calcitonin and methylprednisolone for treatment of an aneurysmal bone cyst at C-2. 54 61
18976109 2008
5
Aneurysmal bone cyst at C2: imaging evaluation after intralesional injection of calcitonin and methylprednisolone. 54 61
18949268 2008
6
[Aneurysmal bone cyst of the cranial base treated by partial resection and calcitonin injection. A case report]. 54 61
16609661 2006
7
Aneurysmal bone cyst of the first cervical vertebrae in a child treated with percutaneous intralesional injection of calcitonin and methylprednisolone. A case report. 54 61
10707403 2000
8
Sciatica secondary to an aneurysmal bone cyst treated with in situ calcitonin injections. 54 61
9385701 1997
9
Calcitonin therapy of aneurysmal bone cysts. 54 61
1400569 1992
10
An Unusual Case of Aneurysmal Bone Cyst of Proximal Phalanx in a 2 Year Old Child. 61
32000601 2020
11
Novel ASAP1-USP6, FAT1-USP6, SAR1A-USP6, and TNC-USP6 fusions in primary aneurysmal bone cyst. 61
32011035 2020
12
Primary aneurysmal bone cysts. 61
32009434 2020
13
Juvenile ossifying fibroma of the jaws and paranasal sinuses: a systematic review of the cases reported in the literature. 61
31285096 2020
14
Chondroblastomas presenting in adulthood: a study of 39 patients with emphasis on histological features and skeletal distribution. 61
31429985 2020
15
Soft Tissue Special Issue: Giant Cell-Rich Lesions of the Head and Neck Region. 61
31950466 2020
16
Nonodontogenic Cysts. 61
31735234 2020
17
Tailored Posterior-Only Approach for C2 Vertebral Body Lesions: Our Surgical Experience in 10 Patients. 61
31605844 2020
18
Secondary aneurysmal bone cysts and associated primary lesions: imaging features of 49 cases. 61
32036238 2020
19
Secondary aneurysmal bone cyst of the spine: Clinicopathological features, surgical modalities and outcomes. 61
31760255 2020
20
Image-Guided Percutaneous Management of Skull and Spine Giant Cell Tumors: Case Report of 2 Challenging Cases Successfully Treated with Doxycycline Sclerotherapy. 61
31660538 2020
21
Primary Hyperparathyroidism Presenting as Aneurysmal Bone Cyst of Tibia and Giant Cell Lesion of Mandible. 61
31839105 2019
22
An Uncommon Presentation of an Uncommon Bone Tumor: A Case Study of a Pathologic Fracture of an Intertrochanteric Aneurysmal Bone Cyst. 61
32025390 2019
23
Primary aneurysmal bone cyst of the scapula in adult patient: two case reports and a review of the literature. 61
31863169 2019
24
Off-label uses of denosumab in metabolic bone diseases. 61
31454537 2019
25
Erratum: Metachronous, Polyostotic Aneurysmal Bone Cysts in an Adolescent Female. 61
31876525 2019
26
Metachronous, Polyostotic Aneurysmal Bone Cysts in an Adolescent Female: A Case Report. 61
31609748 2019
27
A case report of aneurysmal bone cyst of the thoracic spine treated by serial anterior and posterior fusion. 61
31689795 2019
28
Cutaneous aneurysmal bone cyst-First report of a case and literature review. 61
31206756 2019
29
Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report. 61
31678311 2019
30
Utility of FOS as diagnostic marker for osteoid osteoma and osteoblastoma. 61
31768625 2019
31
Tailored treatment of aneurysmal bone cyst of the scapula: en bloc resection for the body and extended curettage for the neck and acromion. 61
31759878 2019
32
Scaphoid Cysts: Literature Review of Etiology, Treatment, and Prognosis. 61
29661070 2019
33
Aneurysmal Bone Cyst: A Review of Management. 61
31476792 2019
34
Aneurysmal bone cyst of the ethmoid on fibrous dysplasia: A usual association within a rare location. 61
31516652 2019
35
Giant Cervical Aneurysmal Bone Cyst and Its Multimodal Management. 61
31442645 2019
36
Giant Cell Tumor with Secondary Aneurysmal Bone Cyst of the Patella: A Case Report. 61
31754554 2019
37
Diagnosis and Treatment of a Benign Pediatric Mandible Tumor. 61
31772885 2019
38
A Rare Case of Ossifying Fibroma with Cystic Degeneration: Diagnostic Challenge with Literature Review. 61
31742074 2019
39
Aneurysmal bone cyst in the cervical spine. 61
31586961 2019
40
Aneurysmal bone cyst: results of an off label treatment with Denosumab. 61
31630689 2019
41
Aneurysmal bone cyst: A review of 65 patients. 61
31463187 2019
42
Use of Denosumab in Children With Osteoclast Bone Dysplasias: Report of Three Cases. 61
31687646 2019
43
Differing characteristics of cartilaginous lesions of the larynx. 61
31338576 2019
44
Thrombosed Middle Meningeal Artery Aneurysms Mimicking Aneurysmal Bone Cysts in a Patient with Fibrous Dysplasia. 61
31306839 2019
45
Multidisciplinary management of spinal aneurysmal bone cysts: A single-center experience. 61
31088242 2019
46
Denosumab for treating aneurysmal bone cysts in children. 61
31358461 2019
47
Secondary Aneurysmal Bone Cyst of Base of Skull Associated with Chondroblastoma. 61
31455497 2019
48
Validation of Fluorescence in situ Hybridization Testing of USP6 Gene Rearrangement for Diagnosis of Primary Aneurysmal Bone Cyst. 61
31611201 2019
49
Aneurysmal bone cysts of the clavicle: a comparison of extended curettage and segmental resection with bone reconstruction. 61
31028011 2019
50
Giant cell tumors combined with secondary aneurysmal bone cysts are more likely to develop postoperative recurrence: A retrospective study of 256 cases. 61
31219620 2019

Variations for Aneurysmal Bone Cysts

Expression for Aneurysmal Bone Cysts

Search GEO for disease gene expression data for Aneurysmal Bone Cysts.

Pathways for Aneurysmal Bone Cysts

GO Terms for Aneurysmal Bone Cysts

Cellular components related to Aneurysmal Bone Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.7 USP6 TNFSF11 TNFRSF11A SLCO4A1 SLCO3A1 SLCO1A2
2 plasma membrane GO:0005886 9.36 USP6 TNFSF11 TNFRSF11A SLCO4A1 SLCO3A1 SLCO1A2

Biological processes related to Aneurysmal Bone Cysts according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.74 TNFRSF11A MAPT CALCA
2 neuron projection development GO:0031175 9.69 MAPT GSK3B CDK5
3 ossification GO:0001503 9.58 TNFSF11 TNFRSF11A CDH11
4 cellular response to nerve growth factor stimulus GO:1990090 9.56 MAPT CALCA
5 regulation of microtubule cytoskeleton organization GO:0070507 9.55 MAPT GSK3B
6 osteoclast differentiation GO:0030316 9.54 TNFSF11 TNFRSF11A
7 positive regulation of bone resorption GO:0045780 9.52 TNFSF11 TNFRSF11A
8 monocyte chemotaxis GO:0002548 9.5 TNFSF11 TNFRSF11A CALCA
9 regulation of protein localization to plasma membrane GO:1903076 9.49 GBP1 CDK5
10 mammary gland alveolus development GO:0060749 9.48 TNFSF11 TNFRSF11A
11 central nervous system neuron development GO:0021954 9.46 MAPT CDK5
12 regulation of calcium-mediated signaling GO:0050848 9.43 MAPT GBP1
13 positive regulation of neuron death GO:1901216 9.43 MAPT GSK3B CDK5
14 TNFSF11-mediated signaling pathway GO:0071847 9.37 TNFSF11 TNFRSF11A
15 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.16 TNFSF11 TNFRSF11A
16 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.96 TNFSF11 TNFRSF11A
17 sodium-independent organic anion transport GO:0043252 8.8 SLCO4A1 SLCO3A1 SLCO1A2

Molecular functions related to Aneurysmal Bone Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tau-protein kinase activity GO:0050321 9.26 GSK3B CDK5
2 dynactin binding GO:0034452 9.16 MAPT GSK3B
3 Hsp90 protein binding GO:0051879 9.13 MAPT GBP1 CDK5
4 sodium-independent organic anion transmembrane transporter activity GO:0015347 8.8 SLCO4A1 SLCO3A1 SLCO1A2

Sources for Aneurysmal Bone Cysts

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
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