Methylthioadenosine phosphorylase deficiency

Synonym(s)
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTAP / Methylthioadenosine Phosphorylase
  9p21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylthioadenosine phosphorylase
Pathway
- Polyamine metabolism
Disease group(s)
- 2.3 Disorders of polyamine metabolism