MCID: CHR072
MIFTS: 66

Chordoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Summaries for Chordoma

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine.  the notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.  a chordoma occurs when these notochord cells start to grow into a tumor and spread into surrounding bone.  approximately one third of chordomas occur at the base of the skull in a bone called the clivus and the most common symptoms are double vision (diplopia) and headaches.  the average age of diagnosis for chordomas of the skull base is 38 years.   treatment often begins with surgery to remove as much of the tumor as possible, and radiation therapy may follow surgery to destroy any remaining tumor cells.  chordomas often grow back in the original location after treatment (known as a recurrence); they do not often spread to distant parts of the body (metastasize).  though the cause of chordomas is unknown, there is currently a study aimed at identifying a potential genetic predisposition to this disease; more information on this study can be found on the national cancer institute's web site. last updated: 10/24/2011

MalaCards: Chordoma, also known as chordoma, susceptibility to, is related to chondrosarcoma and tuberous sclerosis. An important gene associated with Chordoma is CHDM (Chordoma), and among its related pathways are Cell adhesion Cell matrix glycoconjugates and Advanced glycosylation endproduct receptor signaling. The compounds orcein and b 723 have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and lymph node, and related mouse phenotypes are normal and muscle.

Disease Ontology:9 A notochordal cancer that derives from cellular remnants of the notochord.

Genetics Home Reference:22 A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.

Wikipedia:66 Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord. The... more...

Description from OMIM:48 215400

Aliases & Classifications for Chordoma

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

50
chordoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

chordoma 9 44 22 48 11 46 50 63
chordoma, susceptibility to 10 21 23
notochordal sarcoma 50
notochordoma 9


External Ids:

Disease Ontology9 DOID:3302
OMIM48 215400
MeSH36 D002817
NCIt41 C2947
SNOMED-CT59 50007008
MESH via Orphanet37 D002817
SNOMED-CT via Orphanet60 50007008
UMLS via Orphanet64 C0008487

Related Diseases for Chordoma

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18GeneCards, 19GeneDecks
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Diseases related to Chordoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma30.7JUP, S100B, MET, DES, VIM, MUC1
2tuberous sclerosis30.6GFAP, VIM, S100B
3myxopapillary ependymoma30.2S100B, GFAP
4fibrous histiocytoma30.2VIM, S100B, DES
5pituitary adenoma30.1JUP, INHA, LGALS3
6ependymoma30.1S100B, VIM, GFAP, MUC1
7adenoma30.1LGALS3, JUP, MUC1, MET, INHA, KRT14
8meningioma30.1INHA, KRT1, S100B, GFAP, JUP, VIM
9myoepithelioma30.1KRT14, S100B, VIM, GFAP
10pleomorphic adenoma30.0KRT14, GFAP, MUC1, S100B, DES, VIM
11sarcoma29.9S100B, DES, VIM, MUC1, MET, JUP
12adenocarcinoma29.9MUC1, KRT5, MET, VIM, KRT1, KRT14
13neurofibroma29.8MUC1, MET, S100B, VIM
14astrocytoma29.7INHA, VIM, MET, LGALS3, S100B, GFAP
15chondroid chordoma10.8
16cervicitis10.7
17clivus chordoma10.6
18spinal chordoma10.5
19mediastinitis10.3
20parachordoma10.3
21clivus chondroid chordoma10.3
22tuberous sclerosis complex10.2
23myxoid chondrosarcoma10.1
24thyroiditis10.1
25adenomatoid tumor10.1VIM
26eccrine porocarcinoma10.1MUC1
27hidradenoma10.1MUC1
28multicystic dysplastic kidney10.1LGALS3
29cystadenocarcinoma10.1MUC1
30subependymal giant cell astrocytoma10.1GFAP
31giant cell glioblastoma10.1GFAP
32infantile myofibromatosis10.1DES
33mixed glioma10.1GFAP
34epidermolytic hyperkeratosis10.1KRT1
35neurilemmoma10.1GFAP
36fibrous meningioma10.1MUC1, S100B
37clear cell ependymoma10.1MUC1, VIM
38epithelial-myoepithelial carcinoma10.1KRT14
39hailey-hailey disease10.1JUP
40glomus tumor10.1DES, VIM
41epidermolysis bullosa simplex-mp10.1KRT5
42secretory meningioma10.1VIM, MUC1
43sertoli-leydig cell tumor10.1MUC1, INHA
44desmoplastic small round cell tumor10.1MUC1, DES
45epithelioid leiomyosarcoma10.1DES, VIM
46pseudosarcomatous fibromatosis10.1VIM, DES
47rhabdoid meningioma10.1VIM, GFAP
48papillary ependymoma10.1S100B, GFAP
49choroid plexus carcinoma10.1S100B, GFAP
50astroblastoma10.1VIM, GFAP

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to chordoma

Symptoms for Chordoma

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48OMIM
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Clinical features from OMIM:

215400

Drugs & Therapeutics for Chordoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Chordoma

Drug clinical trials:

Search ClinicalTrials for Chordoma

Search NIH Clinical Center for Chordoma

Search CenterWatch for Chordoma

Genetic Tests for Chordoma

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21GeneTests, 23GTR
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Genetic tests related to Chordoma:

id Genetic test Affiliating Genes
1 Chordoma21 23

Anatomical Context for Chordoma

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34MalaCards
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MalaCards organs/tissues related to Chordoma:

34
Bone, Pituitary, Lymph node, Thyroid, Endothelial, Lung, Skeletal muscle, Pineal, Brain, Testes, Ovary, Breast, Spinal cord, Heart, Liver, Eye

Animal Models for Chordoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Chordoma:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4T, INHA, GFAP, MUC1, MET, S100B
2MP:00053698.3MET, VIM, JUP, GFAP, DES
3MP:00053888.1JUP, VIM, MET, LGALS3, KRT14
4MP:00053918.0GFAP, VIM, MUC1, MET, KRT14
5MP:00036317.7T, GFAP, JUP, VIM, MET, LGALS3
6MP:00053867.5DES, T, GFAP, VIM, MET, S100B
7MP:00053787.2T, INHA, GFAP, JUP, VIM, MET
8MP:00107717.2T, JUP, MUC1, LGALS3, S100B, KRT14
9MP:00053857.2DES, T, INHA, GFAP, JUP, VIM
10MP:00053877.2INHA, GFAP, JUP, VIM, MET, LGALS3
11MP:00053817.1T, INHA, GFAP, MUC1, MET, LGALS3
12MP:00053766.3KRT1, DES, T, INHA, GFAP, JUP
13MP:00107685.8DES, T, INHA, GFAP, JUP, VIM

Publications for Chordoma

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53PubMed
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Articles related to Chordoma:

(show top 50)    (show all 608)
idTitleAuthorsYear
1
Development of transplantable human chordoma xenograft for preclinical assessment of novel therapeutic strategies. (24343111)
2013
2
Comparison of human chordoma cell-kill for 290 MeV/n carbon ions versus 70 MeV protons in vitro. (23587329)
2013
3
Long-term outcome following surgical treatment of sacral chordoma. (24249252)
2013
4
Erlotinib inhibits growth of a patient-derived chordoma xenograft. (24260133)
2013
5
Wide resection of sacral chordoma via a posterior approach. (22038441)
2012
6
Intradural chordoma mimicking a lateral sphenoid wing meningioma: a case report. (23319197)
2012
7
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
8
A rare case of jugular foramen chordoma with an unusual extension. (21576564)
2011
9
Total en bloc spondylectomy for L2 chordoma: a case report. (21928701)
2011
10
Generation of chordoma cell line JHC7 and the identification of Brachyury as a novel molecular target. (21699479)
2011
11
Gain of chromosome 7 by chromogenic in situ hybridization (CISH) in chordomas is correlated to c-MET expression. (20617367)
2011
12
Primary extranotochordal cervical chordoma masquerading as a thyroid neoplasm: a case report. (21053549)
2010
13
Intradural cranial chordoma. (20860957)
2010
14
Cervical chordoma in childhood without typical vertebral bony destruction: case report and review of the literature. (19525829)
2009
15
Chordoma and chondrosarcoma gene profile: implications for immunotherapy. (18641983)
2009
16
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. (19521276)
2009
17
Sacral chordoma en-bloc resection and lumbar-iliac stabilization. (18641880)
2008
18
Transrectal EUS-guided FNA biopsy of a presacral chordoma--report of a case and review of the literature. (18442211)
2008
19
Expression of hepatocyte growth factor and c-MET in skull base chordoma. (17948912)
2008
20
Entire infrasellar craniopharyngioma simulating clival chordoma. (18036439)
2007
21
Analysis of immunohistochemical expression of p53 and the proliferation marker Ki-67 antigen in skull base chordomas: relationships between their expression and prognosis. (18095132)
2007
22
Overexpressions of nerve growth factor and its tropomyosin-related kinase A receptor on chordoma cells. (17700442)
2007
23
Chordoma cutis. (18076624)
2007
24
The role of extracellular factors in human metastatic chordoma cell growth in vitro. (18091487)
2007
25
Coccydynia (coccyx pain) caused by chordoma. (17380332)
2007
26
Spinal chordoma of the dorslumbar junction. (16883772)
2006
27
Molecular and biochemical analyses of platelet-derived growth factor receptor (PDGFR) B, PDGFRA, and KIT receptors in chordomas. (17145809)
2006
28
Chordoma detected on F-18 FDG PET. (16855447)
2006
29
Recurrent and metastatic clivus chordoma: systemic palliative therapy retards disease progression. (16222158)
2005
30
Management of sacrococcygeal chordoma mimicking a pilonidal sinus: report of a case. (15959793)
2005
31
Disappearance of a cervical spine chordoma after nonoperative treatment. A case report. (16085625)
2005
32
Soft tissue sacrococcygeal chordoma with intracytoplasmic filamentous inclusions. (16325512)
2005
33
Operative management of sacral chordoma. (16203885)
2005
34
Histogenesis of intralesional fibrous septum in chordoma. (16136750)
2005
35
FNAC diagnosis of a pre-sacral chordoma: a case report. (16758685)
2005
36
Chondroid chordoma of the nasal septum. (12578458)
2003
37
Spinal chordoma of the terminal filum. Case report. (12450288)
2002
38
Chondroid chordoma of the cervical spine. (12382136)
2002
39
Chordoma. (11827649)
2002
40
A unique presentation of retroclival chordoma. (12571385)
2002
41
Giant notochordal hamartoma of intraosseous origin: a newly reported benign entity to be distinguished from chordoma. Report of two cases. (11810168)
2001
42
Crush preparation findings of &quot;sarcomatoid&quot; chordoma of the sacrum: report of a case with histologic, immunohistochemical, and ultrastructural correlation. (11747239)
2001
43
Sarcomatoid chordoma: chordoma with a massive malignant spindle-cell component. (11271555)
2000
44
Cytokeratin subtyping in chordomas and the fetal notochord: an immunohistochemical analysis of aberrant expression. (9195570)
1997
45
Significance of immunohistochemical study in the diagnosis and differential diagnosis of chordoma]. (8697996)
1995
46
Immunohistochemical and electron microscopic studies on intracranial chordomas: difference between typical chordomas and chondroid chordomas. (7512865)
1994
47
Immunohistochemical distinction of classic and chondroid chordomas. (1722044)
1991
48
Immunohistochemistry of ecchordosis physaliphora and chordoma. (1703453)
1990
49
The nature of cytoplasmic vacuoles in chordoma cells. A correlative enzyme and electron microscopic histochemical study. (2287590)
1990
50
Chondroid chordoma: a low-grade chondrosarcoma and its differential diagnosis. (2673669)
1989

Variations for Chordoma

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Expression for genes affiliated with Chordoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chordoma

Search GEO for disease gene expression data for Chordoma.

Pathways for genes affiliated with Chordoma

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51PathCards, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 13EMD Millipore, 5Cell Signaling Technology, 54QIAGEN
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Pathways related to Chordoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9LGALS3, MUC1
29.9LGALS3, S100B
3
Show member pathways
Signaling by Aurora kinases39
Aurora C signaling39
9.8VIM, DES
49.7JUP, VIM
59.4LGALS3, VIM, GFAP
6
Show member pathways
Cytoskeleton remodeling Neurofilaments61
9.3DES, GFAP, VIM
79.0KRT1, KRT14, JUP
88.9KRT5, VIM, DES
9
Show member pathways
8.5MET, MUC1, VIM, GFAP, DES
108.4KRT5, KRT1, KRT14, VIM

Compounds for genes affiliated with Chordoma

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Chordoma according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1orcein469.8VIM, S100B, DES
2b 723469.6VIM, DES, S100B, MUC1
3eosin469.6GFAP, S100B, VIM, MUC1
4phalloidin469.5JUP, VIM, DES
5adriamycin469.3MET, MUC1, DES, VIM
6s 100469.2GFAP, VIM, DES, S100B, MUC1
7reticulin469.2S100B, DES, MUC1, VIM, GFAP
8acth469.2MUC1, INHA, GFAP, LGALS3, S100B
9biotin46 25 1211.2INHA, MUC1, VIM, DES, KRT1
10forskolin46 52 1211.1VIM, S100B, MUC1, GFAP, INHA
11calcipotriol46 62 30 1212.0KRT5, VIM, KRT14
12mucicarmine469.0DES, KRT14, S100B, MUC1, VIM
13estradiol46 25 1211.0MUC1, VIM, INHA, DES, GFAP
14matrigel468.9LGALS3, MET, MUC1, VIM, GFAP
15lactate468.9DES, GFAP, VIM, S100B, LGALS3
16formaldehyde46 259.8DES, GFAP, VIM, MUC1, LGALS3, S100B
17butyrate468.8KRT14, LGALS3, MUC1, VIM, GFAP
18valine468.8KRT1, S100B, KRT5, VIM
19creatinine468.8GFAP, DES, VIM, MUC1, S100B
20cyclic amp46 259.7DES, INHA, GFAP, S100B, VIM, MUC1
21methionine468.7DES, KRT14, VIM, GFAP, S100B
22thymidine46 259.7S100B, MET, MUC1, DES, GFAP
23iron46 259.6DES, GFAP, VIM, S100B, KRT14
24heparin46 30 25 1211.6VIM, MET, LGALS3, S100B, DES
25fatty acid468.5DES, KRT5, INHA, LGALS3, S100B
26agar468.5JUP, LGALS3, VIM, MET, MUC1, GFAP
27bromodeoxyuridine468.4DES, GFAP, S100B, KRT14, KRT1, VIM
28oxygen46 259.3S100B, LGALS3, MUC1, GFAP, DES, MET
29glycogen46 259.3LGALS3, S100B, VIM, MUC1, GFAP, DES
3012-o-tetradecanoylphorbol 13-acetate468.2DES, VIM, MUC1, MET, KRT1, KRT5
31lysine468.1VIM, DES, KRT1, KRT14, KRT5
32aspartate468.1S100B, VIM, GFAP, KRT1, KRT5
33cisplatin46 52 62 1211.1LGALS3, JUP, KRT14, MET, MUC1, GFAP
34leucine467.9KRT1, GFAP, VIM, S100B, KRT5
35vegf467.8GFAP, LGALS3, MET, JUP, MUC1, VIM
36lipid467.7MET, S100B, MUC1, VIM, KRT1, KRT14
37cysteine467.7VIM, MUC1, DES, KRT14, S100B, LGALS3
38hematoxylin467.5S100B, KRT14, KRT1, LGALS3, MUC1, DES
39proline467.2VIM, MET, LGALS3, S100B, KRT14, DES
40alanine467.2KRT5, INHA, MET, LGALS3, S100B, GFAP
41testosterone46 62 25 1210.1MUC1, MET, S100B, KRT1, KRT5, INHA
42threonine466.8KRT5, KRT1, KRT14, MET, LGALS3, S100B
43arginine466.8MET, KRT1, GFAP, VIM, S100B, LGALS3
44calcium46 52 25 129.3S100B, KRT14, KRT1, LGALS3, MET, MUC1
45progesterone46 30 62 25 1210.2LGALS3, MET, S100B, KRT14, KRT5, MUC1
46retinoic acid46 257.0LGALS3, KRT5, KRT1, KRT14, DES, S100B
47serine466.0S100B, KRT14, KRT1, KRT5, VIM, LGALS3
48tyrosine466.0DES, INHA, KRT5, KRT1, GFAP, KRT14
49estrogen465.7INHA, DES, KRT5, GFAP, JUP, VIM
50paraffin465.7VIM, DES, INHA, GFAP, JUP, MUC1

GO Terms for genes affiliated with Chordoma

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17Gene Ontology
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Cellular components related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:0059169.5JUP, DES
2keratin filamentGO:0450958.4KRT5, KRT1, KRT14
3intermediate filamentGO:0058827.4KRT5, KRT14, VIM, JUP, GFAP, DES
4extracellular vesicular exosomeGO:0700627.2JUP, VIM, MUC1, LGALS3, KRT14, KRT1
5cytoplasmGO:0057376.5T, GFAP, JUP, VIM, MUC1, LGALS3

Biological processes related to Chordoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:0600209.9VIM, GFAP
2astrocyte developmentGO:0140029.8VIM, GFAP
3intermediate filament organizationGO:0451099.8GFAP, VIM
4muscle filament slidingGO:0300499.8VIM, DES
5long-term synaptic potentiationGO:0602919.6S100B, GFAP
6negative regulation of neuron projection developmentGO:0109779.4VIM, GFAP
7hemidesmosome assemblyGO:0315819.0KRT5, KRT14
8cell junction assemblyGO:0343298.7KRT5, KRT14, JUP

Molecular functions related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:0971109.4KRT5, VIM
2structural constituent of cytoskeletonGO:0052007.8KRT5, KRT14, VIM, GFAP, DES
3protein bindingGO:0055155.4VIM, JUP, INHA, DES, MUC1, MET

Products for genes affiliated with Chordoma

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Sources for Chordoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet