Chordoma

General Information (adopted from Orphanet):

Synonyms, Signs: CHDM
Number of Symptoms 8
OrphanetNr: 178
OMIM Id: 215400
ICD-10:
UMLs: C0008487
MeSH: D002817
MedDRA: 10008747
Snomed: 50007008

Prevalence, inheritance and age of onset:

Prevalence: 0.05 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic bone tumor
 -Rare genetic disease
Genetic endocrine tumor
 -Rare genetic disease
Pituitary hormone deficiency from tumoral origin
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000234) Abnormality of the head 4 / 7739
2
(HPO:0010762) Chordoma 4 / 7739
3
(HPO:0000925) Abnormality of the vertebral column 20 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Sphenooccipital chordoma 1 / 7739
6
(OMIM) Sacrococcygeal chordoma 1 / 7739
7
(OMIM) Nasopharyngeal chordoma 1 / 7739
8
(OMIM) Vertebral chordoma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension ...
Clinical Description OMIM Foote et al. (1958) described middle-aged brother and sister with sacrococcygeal chordoma. Recurrence and metastases occurred in both.

Stepanek et al. (1998) described chordoma in 4 members of a family in a pattern they considered most ...

Molecular genetics OMIM In 7 affected individuals from 4 unrelated families with chordomas, Yang et al. (2009) identified duplicated regions on chromosome 6q27 ranging from 52 to 489 kb. The results were obtained from a genomewide search for copy number variations ...