MCID: ENC014
MIFTS: 43

Enchondroma malady

Rare diseases category
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Summaries for Enchondroma

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65Wikipedia, 33MalaCards
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Wikipedia:65 An enchondroma is a cartilage cyst found in the bone marrow. Typically, enchondroma is discovered on a... more...

MalaCards: Enchondroma is related to chondrosarcoma and ollier disease. An important gene associated with Enchondroma is IDH2 (isocitrate dehydrogenase 2 (NADP+), mitochondrial), and among its related pathways are Glutathione metabolism and Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. The compounds Oxalosuccinic acid and Isocitric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and thyroid, and related mouse phenotypes are integument and limbs/digits/tail.

Aliases & Classifications for Enchondroma

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43NIH Rare Diseases, 62UMLS
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

enchondroma 43 62


Related Diseases for Enchondroma

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17GeneCards, 18GeneDecks
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Diseases related to Enchondroma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma31.2MMP13, PTH1R, PTHLH
2ollier disease30.8PTHLH, PTH1R
3osteosarcoma30.0CXCR4, MMP13, ESR2, PTH1R, PTHLH
4breast cancer29.6PTH1R, NFATC2, ESR2, PTHLH, CXCR4, PTPN11
5osteochondroma10.3
6chondroma10.2
7periostitis10.2
8metachondromatosis10.2
9fibrous histiocytoma10.1
10histiocytoma10.1
11aneurysm10.1
12interval angle-closure glaucoma10.1IDH2, IDH1
13intraductal papilloma10.1IDH2, IDH1
14d-2-hydroxyglutaric aciduria10.1IDH1, IDH2
15pseudohypoparathyroidism type 1b10.1PTHLH, PTH1R
16osteochondrodysplasia10.1PTH1R, PTHLH
17metaphyseal dysplasia10.1PTHLH, PTH1R
18pseudohypoparathyroidism10.1PTHLH, PTH1R
19hypoparathyroidism10.1PTH1R, PTHLH
20primary hyperparathyroidism10.1PTHLH, PTH1R
21osteomalacia10.1PTHLH, PTH1R
22bone carcinoma10.1PTHLH, MMP13
23dwarfism10.1PTHLH, PTH1R
24synovitis10.0MMP13
25skeletal dysplasias10.0MMP13, PTHLH, PTH1R
26osteoporosis, postmenopausal10.0ESR2, PTHLH
27periodontitis10.0CXCR4, MMP13
28malignant glioma10.0CXCR4, IDH1, IDH2
29hypercalcemia10.0PTH1R, PTHLH
30secondary syphilis10.0PTHLH, NFATC1, PTH1R
31cherubism10.0PTPN11, NFATC1
32neurofibromatosis10.0PTPN11, MMP13
33prolactinoma10.0ESR2, PTHLH
34coronary artery disease10.0ESR2, MMP13, CXCR4
35prostate cancer10.0PTHLH, PTH1R, ESR2
36osteoarthritis10.0ESR2, MMP13, PTHLH
37cerebrovascular disease10.0MMP13, CXCR4, ESR2
38hypertrophy of breast10.0MMP13, PTHLH, NFATC2, PTH1R
39acute lymphoblastic leukemia, childhood10.0PTHLH, PTPN11
40colorectal cancer10.0CXCR4, MMP13, ESR2
41hematologic cancer10.0PTPN11, PTHLH, CXCR4
42acute lymphocytic leukemia10.0CXCR4, PTHLH, PTPN11
43factor v leiden thrombophilia10.0MMP13, ESR2, PTPN11
44spindle cell hemangioma10.0
45relapsing polychondritis10.0
46chondroblastoma10.0
47congenital fibrosarcoma10.0
48coccidioidomycosis10.0
49camurati-engelmann disease10.0
50periosteal chondrosarcoma10.0

Graphical network of the top 20 diseases related to Enchondroma:



Diseases related to enchondroma

Symptoms for Enchondroma

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Drugs & Therapeutics for Enchondroma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Enchondroma

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Anatomical Context for Enchondroma

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33MalaCards
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MalaCards organs/tissues related to Enchondroma:

33
Bone, Bone marrow, Thyroid, Breast, Pituitary

Animal Models for Enchondroma or affiliated genes

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37MGI
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Publications for Enchondroma

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52PubMed
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Articles related to Enchondroma:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
MR differentiation of low-grade chondrosarcoma from enchondroma. (23041161)
2013
2
Extensive curettage using a high-speed burr versus dehydrated alcohol instillation for the treatment of enchondroma of the hand. (24369364)
2013
3
Solitary enchondroma presenting with an intra-articular comminuted fracture treated with ligamentaxis and percutaneous curettage. (23390149)
2013
4
Enchondroma vs. chondrosarcoma: a simple, easy-to-use, new magnetic resonance sign. (22227263)
2013
5
Loss of pRB and p107 disrupts cartilage development and promotes enchondroma formation. (23146901)
2013
6
Dynamic contrast-enhanced MR imaging for differentiation between enchondroma and chondrosarcoma. (23771600)
2013
7
Haemorrhagic Epithelioid and Spindle Cell Haemangioma Misdiagnosed as a Metacarpal Enchondroma. (23303831)
2013
8
Curettage and calcium phosphate bone cement injection for the treatment of enchondroma of the finger. (22351535)
2012
9
Single clubbed finger caused by an enchondroma of the distal phalanx: an unusual clinical presentation. (23061956)
2012
10
Two cases of flexor digitorum profundus avulsion due to enchondroma of the distal phalanx. (22398793)
2012
11
Enchondroma of the lunate. (23233901)
2012
12
Enchondroma versus Low-Grade Chondrosarcoma in Appendicular Skeleton: Clinical and Radiological Criteria. (22593766)
2012
13
Result of arthroscopic removal of an enchondroma at the talar dome: a case report. (23451467)
2012
14
Avulsion of flexor digitorum profundus secondary to recurrent enchondroma. (21548162)
2011
15
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
16
C-propeptides of procollagens I alpha 1 and II that differentially accumulate in enchondromas versus chondrosarcomas regulate tumor cell survival and migration. (20460531)
2010
17
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. (21098859)
2010
18
Enchondroma in a running athlete with persistent mid-thigh pain. (20118530)
2010
19
Secondary chondrosarcoma in an enchondroma in a proximal phalanx of toe. A diagnostic problem. A case report. (20307452)
2009
20
Immunohistochemical expression of estrogen receptors in chondrosarcomas and enchondromas. (18203781)
2008
21
Solitary epiphyseal enchondroma of the proximal femur in a 23-month-old girl. (18580374)
2008
22
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
23
Endoscopically assisted excision of digital enchondroma. (17560488)
2007
24
Concurrent periosteal chondroma and enchondroma of the fibula mimicking chondrosarcoma. (16421751)
2006
25
Differentiating clinical and radiographic features of enchondroma and secondary chondrosarcoma in the foot. (16624212)
2006
26
Rotator cuff impingement due to enchondroma of the acromion. (16459867)
2005
27
Avulsion of the flexor digitorum tendon secondary to enchondroma of the distal phalanx. (24115877)
2004
28
Enchondroma protuberans of the phalanx: a case report. (14642525)
2003
29
Flexor digitorum profundus tendon avulsion through a recurrent enchondroma--a case report. (11677676)
2001
30
The use of an in situ curing hydroxyapatite cement as an alternative to bone graft following removal of enchondroma of the hand. (10961557)
2000
31
Enchondroma associated with Paget's disease. (11144499)
2000
32
Solitary enchondroma in the distal phalanx of the right thumb. An unusual localization. (11331162)
2000
33
Collision of a metastatic carcinoma to an enchondroma. (11144497)
2000
34
Enchondroma versus chondrosarcoma in the appendicular skeleton: differentiating features. (9747616)
1998
35
Pathologic fracture of the scaphoid due to enchondroma: treatment with vascularized bone grafting. report of a case. (9556278)
1998
36
Malignant fibrous histiocytoma arising from a calcifying enchondroma--a case report. (9476168)
1997
37
Enchondroma in a rhesus monkey. (8175477)
1994
38
Pathologic fracture through a solitary enchondroma of the radial diaphysis: case report. (1994095)
1991
39
Enchondroma: a case report and literature review. (3072370)
1988
40
Avulsion of flexor profundus, secondary to enchondroma of the distal phalanx. (6875236)
1983
41
Enchondroma with fracture through the distal phalanx. (7398130)
1980
42
Chondrosarcoma of the first metatarsal--primary or secondary to enchondroma? (398208)
1979
43
Enchondroma of the hand. (873705)
1977
44
Chondrosarcoma of the hand arising from a pre-existent benign solitary enchondroma. (1192657)
1975
45
Osteosarcoma developing in solitary enchondroma of the tibia. (5278285)
1971
46
Giant solitary enchondroma of the tibia with early malignant changes. (5600136)
1967
47
Enchondroma of the vertebral body. Report of a case causing bilateral sciatica. (5333101)
1966
48
Peculiar nail dystrophy caused by an enchondroma. (9626087)
1965
49
Enchondroma of patella. (13042079)
1953
50
ENCHONDROMA OF THE MANUBRIUM STERNI SUCCESSFULLY REMOVED BY OPERATION. (20766631)
1913

Variations for Enchondroma

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Expression for genes affiliated with Enchondroma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Enchondroma

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Pathways for genes affiliated with Enchondroma

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 51PharmGKB, 53QIAGEN, 54R&D Systems
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Pathways related to Enchondroma according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glutathione-mediated detoxification I38
glutathione redox reactions I38
glutathione redox reactions II38
4-hydroxy-2-nonenal detoxification38
Glutathione metabolism60
Glutathione metabolism38
9.9IDH1, IDH2
29.5NFATC1, NFATC2
3
Show member pathways
9.5NFATC2, NFATC1
49.5NFATC1, NFATC2
59.5NFATC1, NFATC2
6
Show member pathways
Ras signaling in the CD4+ TCR pathway38
9.5NFATC2, NFATC1
79.5NFATC2, NFATC1
8
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
9.5NFATC1, NFATC2
99.4PTH1R, PTHLH, MMP13
109.4MMP13, PTHLH, PTH1R
11
Show member pathways
9.1CXCR4, NFATC2, NFATC1
12
Show member pathways
8.9NFATC1, NFATC2, PTPN11
138.9NFATC1, NFATC2, PTPN11
148.9NFATC1, NFATC2, PTPN11
15
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
8.9NFATC1, NFATC2, PTPN11
16
Show member pathways
Immune response CD16 signaling in NK cells60
8.9PTPN11, NFATC2, NFATC1
17
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.9PTPN11, NFATC2, NFATC1
18
Show member pathways
8.7NFATC1, NFATC2, MMP13, ESR2
19
Show member pathways
8.3PTH1R, PTHLH, PTPN11, CXCR4, NFATC1

Compounds for genes affiliated with Enchondroma

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24HMDB, 11DrugBank, 45Novoseek, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Enchondroma according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid2410.3IDH1, IDH2
2Isocitric acid24 1111.3IDH1, IDH2
3isocitrate4510.2IDH1, IDH2
4Oxoglutaric acid2410.1IDH2, IDH1
5clodronate45 51 1112.1PTHLH, MMP13
6alendronate45 51 1112.0PTHLH, MMP13
7phosphorus459.9PTH1R, PTHLH
8hydroxyproline45 24 1111.8PTHLH, MMP13
9prostaglandin459.7CXCR4, PTHLH, MMP13
10ionomycin459.5NFATC1, NFATC2, PTHLH
11herbimycin a45 6110.4CXCR4, MMP13, PTPN11
12ccl445 2910.4MMP13, PTHLH, PTH1R, CXCR4
13matrigel459.4CXCR4, PTH1R, PTHLH, MMP13
14pge2459.4MMP13, CXCR4, PTH1R, PTHLH
15ribonucleic acid459.3PTHLH, PTH1R, ESR2, MMP13
16agar459.3PTHLH, PTPN11, CXCR4
17estradiol45 24 1111.3PTHLH, ESR2, MMP13
18cyclic amp45 2410.3MMP13, PTH1R, PTHLH, NFATC2
19actinomycin d459.2PTHLH, CXCR4, MMP13, ESR2
20nadph45 2410.2PTPN11, CXCR4, IDH1, IDH2
21thymidine45 2410.2PTHLH, MMP13, PTPN11, PTH1R
22glycogen45 2410.2PTHLH, NFATC1, PTPN11
23paraffin459.2ESR2, PTHLH, MMP13
24cycloheximide459.2CXCR4, PTHLH, ESR2, MMP13
25adenylate459.2PTHLH, CXCR4, PTH1R, ESR2
26vitamin d459.1NFATC2, PTHLH, PTH1R, ESR2
27steroid459.1ESR2, PTHLH, CXCR4, PTH1R
28rapamycin459.1CXCR4, PTPN11, ESR2
29rantes459.1MMP13, CXCR4, NFATC1, PTPN11
30sb 20358045 6110.1NFATC1, PTPN11, MMP13, CXCR4
31phosphoinositide459.1CXCR4, PTPN11, PTH1R
32alanine459.0PTH1R, PTHLH, PTPN11, CXCR4
33oxygen45 249.9MMP13, PTPN11, CXCR4, PTHLH
34oligonucleotide458.9CXCR4, MMP13, PTPN11, NFATC2
35glutamate458.9ESR2, PTPN11, IDH1, CXCR4
36estrogen458.9PTHLH, MMP13, ESR2, PTH1R, CXCR4
37retinoic acid45 249.8PTHLH, PTH1R, ESR2, MMP13, CXCR4
38forskolin45 51 1110.8PTH1R, PTPN11, PTHLH
39arginine458.8CXCR4, ESR2, PTPN11, PTHLH
40nitric oxide45 24 1110.8CXCR4, MMP13, PTPN11, PTH1R, PTHLH
41phosphatidylinositol458.7PTPN11, PTHLH, MMP13, CXCR4, NFATC1
42atp45 299.4CXCR4, MCM6, PTPN11, PTHLH
43dexamethasone45 51 29 1111.3ESR2, PTPN11, PTHLH, PTH1R, MMP13, CXCR4
44serine458.2PTH1R, CXCR4, MMP13, ESR2, PTPN11, PTHLH
45vegf458.2PTHLH, NFATC1, PTPN11, ESR2, CXCR4, MMP13
46calcium45 51 24 1110.6IDH1, PTH1R, PTHLH, PTPN11, MMP13, CXCR4

GO Terms for genes affiliated with Enchondroma

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16Gene Ontology
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Cellular components related to Enchondroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.2NFATC1, NFATC2, ESR2, MCM6
2cytoplasmGO:0057377.1NFATC1, IDH1, PTH1R, PTHLH, PTPN11, CXCR4

Biological processes related to Enchondroma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.1IDH1, IDH2
2isocitrate metabolic processGO:00610210.1IDH1, IDH2
32-oxoglutarate metabolic processGO:00610310.0IDH1, IDH2
4osteoblast developmentGO:0020769.8PTH1R, PTHLH
5tricarboxylic acid cycleGO:0060999.8IDH2, IDH1
6adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.8PTHLH, PTH1R
7bone mineralizationGO:0302829.5MMP13, PTH1R
8brain developmentGO:0074209.0PTPN11, ESR2, CXCR4
9Fc-epsilon receptor signaling pathwayGO:0380958.9NFATC1, NFATC2, PTPN11

Molecular functions related to Enchondroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NAD bindingGO:0512879.9IDH1, IDH2
2isocitrate dehydrogenase (NADP+) activityGO:0044509.8IDH1, IDH2
3peptide hormone receptor bindingGO:0514289.2PTPN11, PTHLH

Products for genes affiliated with Enchondroma

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  • Antibodies
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Sources for Enchondroma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet