MCID: ENC014
MIFTS: 31

Enchondroma malady

Summaries for Enchondroma

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 IDH1 (isocitrate dehydrogenase 1 (NADP+), soluble), and among its related pathways are Citric acid cycle (TCA cycle) and 2-Oxocarboxylic acid metabolism. The compounds pge2 and Isocitric Acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Aliases & Classifications for Enchondroma

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

enchondroma 42 60


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 74)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma31.0MMP13, PTH1R, PTHLH
2ollier disease30.6PTHLH, PTH1R
3osteosarcoma30.0CXCR4, ESR2, PTHLH, PTH1R, MMP13
4breast cancer29.8PTPN11, PTH1R, MMP13, ESR2, PTHLH, NFATC2
5periosteal chondrosarcoma10.1
6chondroma10.1
7periostitis10.1
8metachondromatosis10.1
9fibrous histiocytoma10.1
10histiocytoma10.1
11oligodendroglioma10.0IDH1
12synovitis10.0MMP13
13osteochondroma10.0PTHLH
14rhabdomyosarcoma10.0PTPN11
15myelodysplastic syndromes10.0PTPN11
16interval angle-closure glaucoma10.0IDH2, IDH1
17d-2-hydroxyglutaric aciduria10.0IDH2, IDH1
18intraductal papilloma10.0IDH1, IDH2
19achondroplasia10.0PTH1R
20myeloid leukemia10.0PTPN11
21pseudohypoparathyroidism type 1b10.0PTH1R, PTHLH
22osteochondrodysplasia10.0PTHLH, PTH1R
23metaphyseal dysplasia10.0PTHLH, PTH1R
24astrocytoma10.0CXCR4, IDH1
25short stature10.0PTPN11
26stomach cancer10.0PTPN11, MMP13
27primary hyperparathyroidism10.0PTHLH, PTH1R
28cherubism10.0NFATC1, PTPN11
29pseudohypoparathyroidism10.0PTH1R, PTHLH
30skeletal dysplasias10.0PTH1R, PTHLH, MMP13
31secondary syphilis10.0NFATC1, PTH1R, PTHLH
32colorectal cancer10.0ESR2, MMP13
33acute leukemia10.0CXCR4, PTPN11
34neurofibromatosis10.0MMP13, PTPN11
35bone carcinoma10.0PTHLH, MMP13
36pancreatic cancer10.0CXCR4, PTH1R, PTHLH
37melanoma10.0PTPN11, MMP13, CXCR4
38osteoporosis, postmenopausal10.0PTHLH, ESR2
39encephalomyelitis10.0ESR2
40hypertrophy of breast10.0PTHLH, PTH1R, MMP13, NFATC2
41hematologic cancer10.0PTHLH, CXCR4, PTPN11
42arthritis10.0MMP13, ESR2, PTPN11
43osteoarthritis10.0MMP13, PTHLH, ESR2
44factor v leiden thrombophilia10.0MMP13, PTPN11, ESR2
45glioblastoma multiforme10.0CXCR4, IDH2, IDH1, PTPN11
46acute lymphocytic leukemia10.0PTHLH, CXCR4, PTPN11
47coronary artery disease10.0MMP13, CXCR4, ESR2
48malignant glioma10.0PTPN11, PTH1R, IDH2, IDH1, CXCR4
49adenocarcinoma10.0PTHLH, CXCR4, ESR2, MMP13
50osteoporosis10.0PTHLH, PTH1R, NFATC1, MMP13, ESR2

Graphical network of the top 20 diseases related to Enchondroma:



Diseases related to enchondroma

Clinical Features for Enchondroma

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Drugs & Therapeutics for Enchondroma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Enchondroma:

32
Bone marrow, Bone

Animal Models for Enchondroma or affiliated genes

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36MGI
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Publications for Enchondroma

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Genetic Variations for Enchondroma

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Expression for genes affiliated with Enchondroma

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 12EMD Millipore, 52R&D Systems
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Pathways related to Enchondroma according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.9IDH1, IDH2
29.9IDH1, IDH2
3
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9.7PTHLH, PTH1R
4
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9.6NFATC2, NFATC1
59.6NFATC2, NFATC1
69.4PTHLH, PTH1R, MMP13
7
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.4PTHLH, PTH1R, MMP13
8
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9.0PTPN11, NFATC2, NFATC1
9
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9.0NFATC1, NFATC2, PTPN11
109.0NFATC1, NFATC2, PTPN11
11
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9.0PTPN11, NFATC2, NFATC1
129.0PTPN11, NFATC2, NFATC1
13
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8.8ESR2, MMP13, NFATC2, NFATC1

Compounds for genes affiliated with Enchondroma

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Enchondroma according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pge24410.4PTH1R
2Isocitric Acid11 2411.2IDH1, IDH2
3clodronate44 49 1111.9PTHLH, MMP13
4alendronate44 49 1111.8PTHLH, MMP13
5rantes449.8PTPN11, CXCR4
6isocitrate449.6IDH2, IDH1
7nadph44 2410.5IDH1, IDH2, PTPN11
8prostaglandin449.4PTHLH, MMP13, CXCR4
9ionomycin449.4NFATC1, NFATC2, PTHLH
10ccl444 2810.4PTHLH, PTH1R, MMP13, CXCR4
11herbimycin a44 5910.3CXCR4, MMP13, PTPN11
12matrigel449.3CXCR4, MMP13, PTH1R, PTHLH
13ribonucleic acid449.3ESR2, PTHLH, PTH1R, MMP13
14actinomycin d449.1CXCR4, MMP13, PTHLH, ESR2
15sb 20358044 5910.1NFATC1, CXCR4, MMP13, PTPN11
16agar449.1CXCR4, PTPN11, PTHLH
17thymidine44 2410.1PTHLH, PTH1R, PTPN11, MMP13
18cyclic amp44 2410.0NFATC2, MMP13, PTH1R, PTHLH
19vitamin d449.0ESR2, PTHLH, PTH1R, NFATC2
20serine449.0ESR2, PTH1R, PTPN11, MMP13
21adenylate449.0ESR2, PTHLH, PTH1R, CXCR4
22steroid448.7ESR2, PTHLH, PTH1R, CXCR4
23retinoic acid44 249.7CXCR4, MMP13, PTH1R, PTHLH, ESR2
24nitric oxide44 11 2410.7CXCR4, MMP13, PTPN11, PTH1R, PTHLH
25phosphatidylinositol448.6PTHLH, PTPN11, MMP13, CXCR4, NFATC1
26oligonucleotide448.5NFATC2, CXCR4, MMP13, PTPN11
27dexamethasone44 49 28 1111.2CXCR4, MMP13, PTPN11, PTH1R, PTHLH, ESR2
28vegf448.2NFATC1, CXCR4, MMP13, PTPN11, PTHLH, ESR2
29calcium44 49 11 2410.5IDH1, NFATC1, NFATC2, CXCR4, MMP13, PTPN11

GO Terms for genes affiliated with Enchondroma

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16Gene Ontology
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Biological processes related to Enchondroma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.1IDH2, IDH1
2isocitrate metabolic processGO:00610210.0IDH2, IDH1
32-oxoglutarate metabolic processGO:00610310.0IDH1, IDH2
4osteoblast developmentGO:0020769.8PTHLH, PTH1R
5tricarboxylic acid cycleGO:0060999.8IDH1, IDH2
6adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.7PTH1R, PTHLH
7bone mineralizationGO:0302829.5PTH1R, MMP13
8Fc-epsilon receptor signaling pathwayGO:0380959.0PTPN11, NFATC2, NFATC1
9brain developmentGO:0074208.9CXCR4, PTPN11, ESR2

Molecular functions related to Enchondroma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NAD bindingGO:0512879.9IDH2, IDH1
2isocitrate dehydrogenase (NADP+) activityGO:0044509.8IDH2, IDH1
3peptide hormone receptor bindingGO:0514289.1PTHLH, PTPN11

Products for genes affiliated with Enchondroma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Enchondroma

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet