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Details
Link-It Detail - Disease - Phosphaturic Mesenchymal Tumor
Debug Stats
  • ### Total Build Time: 18 ms 8.459 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 1.010 KB
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=7 ms Completed: 7 ms rowSize= 4.314 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 1.551 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Phosphaturic Mesenchymal Tumor C1831619
Definition (1)
An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.
Relationships (6)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 1


Relationships:
is_​abnormal_​cell_​of_​disease : 2
is_​associated_​disease_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
is_​not_​normal_​cell_​origin_​of_​disease : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Cell of connective tissue C0009781
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Connective and Soft Tissue Cell C1513942
DISO_to_ANATis_not_normal_cell_origin_of_diseaseimg Nerve Cell, Neuroepithelial Cell, and Supporting Cell of the Nervous System C1518293
DISO_to_DISOis_associated_disease_ofimg Oncogenic osteomalacia C1274103
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanDMP11758dentin matrix acidic phosphoprotein 1
img GENERIF, Score=912, Pubmed Id: 15001995, UMLKSK CUI: C1831619
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1831619Phosphaturic Mesenchymal Tumor0self