MCID: ENC014
MIFTS: 44

Enchondroma malady

Rare diseases category
Download this MalaCard

Summaries for Enchondroma

About this section


Fully expand this MalaCard
Wikipedia:65 An enchondroma is a cartilage cyst found in the bone marrow. Typically, enchondroma is discovered on a... more...

MalaCards based summary: 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

About this section

Enchondroma, Aliases & Descriptions:

Name: Enchondroma 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Enchondroma

About this section

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma31.4MMP13, PTHLH, PTH1R
2ollier disease31.3PTHLH, PTH1R
3osteosarcoma29.7PTH1R, PTHLH, ESR2, MMP13, CXCR4
4breast cancer28.6PTH1R, PTHLH, PTPN11, ESR2, MMP13, CXCR4
5interval angle-closure glaucoma10.4IDH1, IDH2
6d-2-hydroxyglutaric aciduria10.4IDH2, IDH1
7intraductal papilloma10.4IDH2, IDH1
8osteochondroma10.3
9pseudohypoparathyroidism type 1b10.3PTH1R, PTHLH
10metaphyseal dysplasia10.3PTHLH, PTH1R
11pseudohypoparathyroidism10.3PTH1R, PTHLH
12hypoparathyroidism10.3PTHLH, PTH1R
13primary hyperparathyroidism10.3PTHLH, PTH1R
14osteomalacia10.3PTH1R, PTHLH
15bone cancer10.3MMP13, PTHLH
16dwarfism10.3PTHLH, PTH1R
17chondroma10.2
18periostitis10.2
19metachondromatosis10.2
20synovitis10.2MMP13
21skeletal dysplasia multi-gene panels10.2MMP13, PTHLH, PTH1R
22osteoporosis, postmenopausal10.2ESR2, PTHLH
23periodontitis10.1MMP13, CXCR4
24malignant glioma10.1CXCR4, IDH1, IDH2
25hypercalcemia10.1PTH1R, PTHLH
26fibrous histiocytoma10.1
27histiocytoma10.1
28aneurysm10.1
29secondary syphilis10.1NFATC1, PTHLH, PTH1R
30cherubism10.1PTPN11, NFATC1
31neurofibromatosis10.1PTPN11, MMP13
32prolactinoma10.0ESR2, PTHLH
33coronary artery anomaly10.0ESR2, MMP13, CXCR4
34aneurysmal bone cysts10.0
35hemangioma10.0
36relapsing polychondritis10.0
37chondroblastoma10.0
38spindle cell hemangioma10.0
39coccidioidomycosis10.0
40periosteal chondrosarcoma10.0
41fibrodysplasia ossificans progressiva10.0
42paronychia10.0
43camurati-engelmann disease10.0
44congenital fibrosarcoma10.0
45adenoma10.0
46cervicitis10.0
47fibrosarcoma10.0
48pituitary adenoma10.0
49thyroiditis10.0
50fibromuscular dysplasia10.0

Graphical network of the top 20 diseases related to Enchondroma:



Diseases related to enchondroma

Symptoms for Enchondroma

About this section

Drugs & Therapeutics for Enchondroma

About this section

Drug clinical trials:

Search ClinicalTrials for Enchondroma

Search NIH Clinical Center for Enchondroma

Genetic Tests for Enchondroma

About this section

Anatomical Context for Enchondroma

About this section

MalaCards organs/tissues related to Enchondroma:

32
Bone, Bone marrow, Thyroid, Breast, Pituitary

Animal Models for Enchondroma or affiliated genes

About this section

Publications for Enchondroma

About this section

Articles related to Enchondroma:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Pannus tissue mimicking enchondroma. (24488852)
2014
2
MR differentiation of low-grade chondrosarcoma from enchondroma. (23041161)
2013
3
Extensive curettage using a high-speed burr versus dehydrated alcohol instillation for the treatment of enchondroma of the hand. (24369364)
2013
4
Solitary enchondroma presenting with an intra-articular comminuted fracture treated with ligamentaxis and percutaneous curettage. (23390149)
2013
5
Enchondroma vs. chondrosarcoma: a simple, easy-to-use, new magnetic resonance sign. (22227263)
2013
6
Loss of pRB and p107 disrupts cartilage development and promotes enchondroma formation. (23146901)
2013
7
Dynamic contrast-enhanced MR imaging for differentiation between enchondroma and chondrosarcoma. (23771600)
2013
8
Haemorrhagic Epithelioid and Spindle Cell Haemangioma Misdiagnosed as a Metacarpal Enchondroma. (23303831)
2013
9
Curettage and calcium phosphate bone cement injection for the treatment of enchondroma of the finger. (22351535)
2012
10
Single clubbed finger caused by an enchondroma of the distal phalanx: an unusual clinical presentation. (23061956)
2012
11
Two cases of flexor digitorum profundus avulsion due to enchondroma of the distal phalanx. (22398793)
2012
12
Enchondroma of the lunate. (23233901)
2012
13
Enchondroma versus Low-Grade Chondrosarcoma in Appendicular Skeleton: Clinical and Radiological Criteria. (22593766)
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

About this section

Expression for genes affiliated with Enchondroma

About this section
Expression patterns in normal tissues for genes affiliated with Enchondroma

Search GEO for disease gene expression data for Enchondroma.

Pathways for genes affiliated with Enchondroma

About this section

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 I37
glutathione redox reactions I37
glutathione redox reactions II37
4-hydroxy-2-nonenal detoxification37
Glutathione metabolism60
Glutathione metabolism37
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 pathway37
9.5NFATC2, NFATC1
79.5NFATC2, NFATC1
8
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
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 pathway37
TCR Signaling Pathway37
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

About this section

Compounds related to Enchondroma according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid2410.3IDH1, IDH2
2Isocitric acid24 1111.3IDH2, IDH1
3isocitrate4410.1IDH1, IDH2
4Oxoglutaric acid2410.1IDH2, IDH1
5clodronate44 50 1112.1MMP13, PTHLH
6alendronate44 50 1112.1MMP13, PTHLH
7phosphorus449.9PTHLH, PTH1R
8hydroxyproline44 24 1111.8MMP13, PTHLH
9prostaglandin449.7PTHLH, MMP13, CXCR4
10ionomycin449.5NFATC1, NFATC2, PTHLH
11herbimycin a44 6110.4PTPN11, MMP13, CXCR4
12ccl444 2810.4CXCR4, MMP13, PTHLH, PTH1R
13matrigel449.4PTH1R, PTHLH, MMP13, CXCR4
14pge2449.4CXCR4, MMP13, PTHLH, PTH1R
15ribonucleic acid449.3MMP13, ESR2, PTHLH, PTH1R
16agar449.3CXCR4, PTPN11, PTHLH
17estradiol44 24 1111.3MMP13, ESR2, PTHLH
18cyclic amp44 2410.3NFATC2, MMP13, PTHLH, PTH1R
19actinomycin d449.2CXCR4, MMP13, ESR2, PTHLH
20nadph44 2410.2IDH2, IDH1, PTPN11, CXCR4
21thymidine44 2410.2PTH1R, PTHLH, PTPN11, MMP13
22glycogen44 2410.2NFATC1, PTPN11, PTHLH
23paraffin449.2MMP13, ESR2, PTHLH
24cycloheximide449.2CXCR4, MMP13, ESR2, PTHLH
25adenylate449.2PTH1R, PTHLH, ESR2, CXCR4
26vitamin d449.1PTH1R, PTHLH, ESR2, NFATC2
27steroid449.1CXCR4, ESR2, PTHLH, PTH1R
28rapamycin449.1CXCR4, ESR2, PTPN11
29rantes449.1PTPN11, MMP13, CXCR4, NFATC1
30sb 20358044 6110.1PTPN11, MMP13, CXCR4, NFATC1
31phosphoinositide449.1PTH1R, PTPN11, CXCR4
32alanine449.0PTH1R, PTHLH, PTPN11, CXCR4
33oxygen44 249.9PTHLH, PTPN11, MMP13, CXCR4
34oligonucleotide448.9PTPN11, MMP13, CXCR4, NFATC2
35glutamate448.9IDH1, PTPN11, ESR2, CXCR4
36estrogen448.9CXCR4, MMP13, ESR2, PTHLH, PTH1R
37retinoic acid44 249.8PTH1R, PTHLH, ESR2, MMP13, CXCR4
38forskolin44 50 1110.8PTPN11, PTHLH, PTH1R
39arginine448.8PTHLH, PTPN11, ESR2, CXCR4
40nitric oxide44 24 1110.8PTH1R, PTHLH, PTPN11, MMP13, CXCR4
41phosphatidylinositol448.7NFATC1, CXCR4, MMP13, PTPN11, PTHLH
42atp44 289.4PTHLH, PTPN11, MCM6, CXCR4
43dexamethasone44 50 28 1111.3PTH1R, PTHLH, PTPN11, ESR2, MMP13, CXCR4
44serine448.2PTH1R, PTHLH, PTPN11, ESR2, MMP13, CXCR4
45vegf448.2PTHLH, PTPN11, ESR2, MMP13, CXCR4, NFATC1
46calcium44 50 24 1110.6IDH1, PTH1R, PTHLH, PTPN11, MMP13, CXCR4

GO Terms for genes affiliated with Enchondroma

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Enchondroma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet