diaphyseal medullary stenosis with malignant fibrous histiocytoma

Summary
Synonym
  • Hardcastle syndrome
  • bone dysplasia-medullary fibrosarcoma syndrome
  • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Definition
An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.
Super Class
autosomal dominant disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0080664
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4507 MTAP methylthioadenosine phosphorylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
66902 Mtap methylthioadenosine phosphorylase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
36955 Mtap Methylthioadenosine phosphorylase
318597 CG31115 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
393526 mtap methylthioadenosine phosphorylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850704 MEU1 S-methyl-5-thioadenosine phosphorylase
The Human Phenotype Ontology
Displaying entries 21 - 23 of 23 in total
HPO ID HPO Term
HP:0000963 Thin skin
HP:0005686 Patchy osteosclerosis
HP:0003198 Myopathy
Displaying 1 entry
Gene ID Gene Symbol Description
4507 MTAP methylthioadenosine phosphorylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024