MCID: CHN004
MIFTS: 41

Chondroblastoma

Categories: Bone diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Chondroblastoma

MalaCards integrated aliases for Chondroblastoma:

Name: Chondroblastoma 12 77 54 56 45 15 17 74
Chondroblastoma of Bone 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2649
MeSH 45 D002804
NCIt 51 C2945
SNOMED-CT 69 9001003
UMLS 74 C0008441

Summaries for Chondroblastoma

MalaCards based summary : Chondroblastoma, also known as chondroblastoma of bone, is related to bone giant cell tumor and chondromyxoid fibroma, and has symptoms including pain An important gene associated with Chondroblastoma is H3F3A (H3 Histone Family Member 3A), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs Denosumab and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and lung, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 77 Chondroblastoma is a rare, benign, locally aggressive bone tumor that typically affects the epiphyses or... more...

Related Diseases for Chondroblastoma

Diseases related to Chondroblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 bone giant cell tumor 30.5 H3F3A TNFSF11
2 chondromyxoid fibroma 30.4 PTH1R PTHLH SOX9
3 clear cell chondrosarcoma 30.3 H3F3A PTH1R PTHLH
4 malignant giant cell tumor 30.3 H3F3A H3F3B
5 giant cell tumor 30.2 H3F3A SERPINA3 TNFSF11
6 osteochondroma 29.8 FGFR1 PTHLH
7 embryoma 11.2
8 aneurysmal bone cysts 10.6
9 chondrosarcoma 10.4
10 fibroma 10.3
11 bone giant cell sarcoma 10.3 H3F3A H3F3B
12 brain stem cancer 10.3 H3F3A H3F3B
13 adult astrocytic tumour 10.3 H3F3A H3F3B
14 spinal cord astrocytoma 10.3 H3F3A H3F3B
15 diffuse intrinsic pontine glioma 10.3 H3F3A H3F3B
16 osteogenic sarcoma 10.2
17 supratentorial cancer 10.2 H3F3A H3F3B
18 chondroma 10.1
19 degos 'en cocarde' erythrokeratoderma 10.1
20 synovial chondromatosis 10.1 FGFR1 SOX9
21 cerebrum cancer 10.1 H3F3A H3F3B
22 tooth resorption 10.1 PTH1R TNFSF11
23 multicentric carpotarsal osteolysis syndrome 10.1 PTHLH TNFSF11
24 juxtacortical chondroma 10.1 PTH1R PTHLH
25 hypercalcemia, infantile, 1 10.1 PTH1R PTHLH
26 keratocystic odontogenic tumor 10.1 PTHLH TNFSF11
27 thanatophoric dysplasia, type i 10.1 FGFR1 PTH1R
28 synovitis 10.0
29 histiocytoma 10.0
30 fibrous histiocytoma 10.0
31 enchondroma 10.0
32 metaphyseal chondrodysplasia, jansen type 10.0 PTH1R PTHLH
33 brain stem glioma 10.0 FGFR1 H3F3A H3F3B
34 enchondromatosis, multiple, ollier type 10.0 PTH1R PTHLH
35 pseudohypoparathyroidism, type ib 10.0 PTH1R PTHLH
36 pseudohypoparathyroidism 10.0 PTH1R PTHLH
37 bone development disease 10.0 FGFR1 SOX9
38 achondroplasia 9.9 FGFR1 PTH1R SOX9
39 nevus, epidermal 9.9
40 osteoid osteoma 9.9
41 meningioma, familial 9.9
42 arthritis 9.9
43 fibrous dysplasia 9.9
44 sarcoma 9.9
45 spinal meningioma 9.9
46 cauda equina syndrome 9.9
47 pneumothorax 9.9
48 malignant fibroxanthoma 9.9
49 pigmented villonodular synovitis 9.9
50 papillary carcinoma 9.9

Graphical network of the top 20 diseases related to Chondroblastoma:



Diseases related to Chondroblastoma

Symptoms & Phenotypes for Chondroblastoma

UMLS symptoms related to Chondroblastoma:


pain

MGI Mouse Phenotypes related to Chondroblastoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 FGFR1 H3F3B HK2 PTH1R PTHLH SOX9
2 craniofacial MP:0005382 9.65 FGFR1 PTH1R PTHLH SOX9 TNFSF11
3 limbs/digits/tail MP:0005371 9.35 FGFR1 PTH1R PTHLH SOX9 TNFSF11
4 normal MP:0002873 9.1 FGFR1 H3F3B HK2 PTHLH SOX9 TNFSF11

Drugs & Therapeutics for Chondroblastoma

Drugs for Chondroblastoma (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
2 Bone Density Conservation Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Denosumab in Subjects With Giant Cell Rich Tumors of Bone Recruiting NCT03605199 Phase 2 Denosumab

Search NIH Clinical Center for Chondroblastoma

Cochrane evidence based reviews: chondroblastoma

Genetic Tests for Chondroblastoma

Anatomical Context for Chondroblastoma

MalaCards organs/tissues related to Chondroblastoma:

42
Bone, Brain, Lung, Testes, Thyroid, Cortex, Spinal Cord

Publications for Chondroblastoma

Articles related to Chondroblastoma:

(show top 50) (show all 448)
# Title Authors Year
1
Histone H3K36M mutation and trimethylation patterns in chondroblastoma. ( 30098026 )
2019
2
Percutaneous Cryotherapy for Treatment of Chondroblastoma: Early Experience. ( 30327928 )
2019
3
Vascularized Bone Autograft in Treating Chondroblastoma of the Talus at Imminent Risk of Joint Breakdown: Three Case Reports. ( 30612869 )
2019
4
Functional and Oncological Outcome After Treatment of Chondroblastoma With Intralesional Curettage. ( 30839485 )
2019
5
Chondroblastoma-like primary malignant giant cell tumor of the humerus - a case report. ( 30939886 )
2019
6
Genetic profiling of a chondroblastoma-like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD and a targetable FN1-FGFR1 gene fusion. ( 31066955 )
2019
7
Intraoperative crush smear cytology of vertebral chondroblastoma: A diagnostic challenge. ( 28834661 )
2018
8
"Chondroblastoma-like" epithelioid fibrous histiocytoma: A previously undescribed and potentially confusing variant. ( 29068085 )
2018
9
Aggressive curettage of a chondroblastoma-like osteosarcoma of the proximal end of the tibia. A case report with seven-year follow-up. ( 29307095 )
2018
10
Combined Autograft and Bone Cement for Painful Chondroblastoma: A Case Report. ( 29307744 )
2018
11
The effects of surgical treatment with chondroblastoma in children and adolescents in open epiphyseal plate of long bones. ( 29361956 )
2018
12
Spontaneous Conventional Osteosarcoma Transformation of a Chondroblastoma: A Case Report and Literature Review. ( 29416176 )
2018
13
Chondroblastoma of the distal femoral metaphysis: A case report with emphasis on imaging findings and differential diagnosis. ( 29702979 )
2018
14
Immunohistochemistry for histone H3G34W and H3K36M is highly specific for giant cell tumor of bone and chondroblastoma, respectively, in FNA and core needle biopsy. ( 29757500 )
2018
15
Clear Cell Chondrosarcoma With Chondroblastoma-Like Features: A Case for Team Diagnosis. ( 29774790 )
2018
16
Clinical features, treatments and long-term follow-up outcomes of spinal chondroblastoma: report of 13 clinical cases in a single center. ( 29968040 )
2018
17
Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome. ( 30100356 )
2018
18
Chondroblastoma of frontal bone: A tumor in an unusual location in a young child. ( 30178739 )
2018
19
Chondroblastoma: An evaluation of the recurrences and functional outcomes following treatment. ( 30249436 )
2018
20
Chondroblastoma of the Foot: 40 Cases From a Single Institution. ( 30368424 )
2018
21
Three dimensional surgical planning for mosaicplasty in chondroblastoma of femoral head with articular disruption. ( 30391136 )
2018
22
Functional and Oncological Outcome After Treatment of Chondroblastoma With Intralesional Curettage. ( 30418383 )
2018
23
The diagnosis and treatment of tibial intercondylar chondroblastoma. ( 30517285 )
2018
24
Spontaneous Conventional Osteosarcoma Transformation of a Chondroblastoma: A Case Report and Literature Review. ( 30532312 )
2018
25
Chondroblastoma Of The Lumbar Vertebra. ( 30632348 )
2018
26
What Happens to the Articular Surface After Curettage for Epiphyseal Chondroblastoma? A Report on Functional Results, Arthritis, and Arthroplasty. ( 26831477 )
2017
27
Massive Chondroblastoma of the Talus: Treatment With En Bloc Talectomy and Tibiocalcaneal Arthrodesis: Long-Term Follow-up of a Case. ( 27798068 )
2017
28
Chondroblastoma of the thoracic spine: a rare location. Case report with radiologic-pathologic correlation. ( 27966029 )
2017
29
Unusual presentation of chondroblastoma mimicking Trevor's disease. ( 28272066 )
2017
30
A rare probable chondroblastoma of the calcaneus in a pre-Columbian subadult from Illinois. ( 28290305 )
2017
31
Capitate Chondroblastoma: A Case Report and Review of the Literature. ( 28344536 )
2017
32
Use of denosumab in recurrent chondroblastoma of the squamous temporal bone: a case report. ( 28396758 )
2017
33
Intra-axial chondroblastoma: A bony tumor in the cerebral hemisphere - A case report and review of literature. ( 28484548 )
2017
34
Lateral skull base chondroblastoma resected with facial nerve posterior transposition. ( 28502566 )
2017
35
Chondroblastoma: An Update. ( 28557595 )
2017
36
Chondroblastoma in adult age. ( 28634924 )
2017
37
Temporal bone chondroblastoma: Imaging characteristics with pathologic correlation. ( 28736834 )
2017
38
Unusual presentation of chondroblastoma mimicking Trevor's disease. ( 28862242 )
2017
39
An unusual localization of chondroblastoma: The triradiate cartilage; from a case report a reconstructive technique proposal with imaging evolution. ( 28878541 )
2017
40
Chondroblastoma of extra-craniofacial bones: Clinicopathological analyses of 103 cases. ( 28971570 )
2017
41
A Rare Case of Chondroblastoma with Revision After Graft RejectionA Case Report. ( 29077506 )
2017
42
Chondroblastoma of the rib in a 47-year-old man: a case report with a systematic review of literature. ( 29268433 )
2017
43
Chondroblastoma of sella and anterior cranial fossa base. ( 26394622 )
2016
44
Proximal Tibia Chondroblastoma Treated With Curettage and Bone Graft and Cement Use. ( 26726978 )
2016
45
Temporal bone chondroblastoma totally invisible on MRI. ( 26743837 )
2016
46
The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma. ( 26844533 )
2016
47
Operative treatment of chondroblastoma: a study of 11 cases. ( 26984656 )
2016
48
Fine needle aspiration cytology of chondroblastoma: A report of two cases with brief review of pitfalls. ( 27011442 )
2016
49
Complete local tumor control after curettage of chondroblastoma-a retrospective analysis. ( 27067177 )
2016
50
Malignant chondroblastoma of extraskeletal origin. ( 27127749 )
2016

Variations for Chondroblastoma

Expression for Chondroblastoma

Search GEO for disease gene expression data for Chondroblastoma.

Pathways for Chondroblastoma

GO Terms for Chondroblastoma

Cellular components related to Chondroblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 FGFR1 H3F3A H3F3B PTHLH SERPINA3 TNFSF11
2 nuclear chromosome GO:0000228 9.26 H3F3A H3F3B
3 nuclear nucleosome GO:0000788 9.16 H3F3A H3F3B
4 Barr body GO:0001740 8.62 H3F3A H3F3B

Biological processes related to Chondroblastoma according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 FGFR1 PTH1R PTHLH SOX9
2 nucleosome assembly GO:0006334 9.65 H3F3A H3F3B SOX9
3 regulation of gene silencing by miRNA GO:0060964 9.64 H3F3A H3F3B
4 negative regulation of gene expression, epigenetic GO:0045814 9.63 H3F3A H3F3B
5 embryo implantation GO:0007566 9.63 H3F3A H3F3B
6 male gonad development GO:0008584 9.63 H3F3A H3F3B SOX9
7 bone mineralization GO:0030282 9.62 PTH1R PTHLH
8 regulation of cell differentiation GO:0045595 9.62 FGFR1 SOX9
9 cell maturation GO:0048469 9.61 FGFR1 PTH1R
10 chromatin silencing at rDNA GO:0000183 9.61 H3F3A H3F3B
11 ossification GO:0001503 9.61 PTH1R SOX9 TNFSF11
12 oogenesis GO:0048477 9.6 H3F3A H3F3B
13 nucleus organization GO:0006997 9.59 H3F3A H3F3B
14 ERK1 and ERK2 cascade GO:0070371 9.58 SOX9 TNFSF11
15 telomere organization GO:0032200 9.58 H3F3A H3F3B
16 DNA replication-independent nucleosome assembly GO:0006336 9.57 H3F3A H3F3B
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.56 FGFR1 SOX9
18 bone resorption GO:0045453 9.54 PTH1R TNFSF11
19 osteoblast development GO:0002076 9.52 PTH1R PTHLH
20 negative regulation of chondrocyte differentiation GO:0032331 9.51 PTHLH SOX9
21 muscle cell differentiation GO:0042692 9.49 H3F3A H3F3B
22 chondrocyte differentiation GO:0002062 9.43 FGFR1 PTH1R SOX9
23 brain development GO:0007420 9.4 CA10 FGFR1
24 pericentric heterochromatin assembly GO:0031508 9.37 H3F3A H3F3B
25 regulation of centromere complex assembly GO:0090230 9.32 H3F3A H3F3B
26 negative regulation of chromosome condensation GO:1902340 9.16 H3F3A H3F3B
27 telomeric heterochromatin assembly GO:0031509 8.96 H3F3A H3F3B
28 skeletal system development GO:0001501 8.92 FGFR1 PTH1R PTHLH SOX9

Molecular functions related to Chondroblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosomal DNA binding GO:0031492 8.96 H3F3A H3F3B
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.62 H3F3A H3F3B

Sources for Chondroblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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