KEGG DISEASE: Diaphyseal medullary stenosis with malignant fibrous histiocytoma

KEGG

DISEASE: Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Entry

H02735                      Disease

Name

Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Description

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations in MTAP cause this syndrome. MTAP encodes methylthioadenosine phosphorylase that plays a crucial role in the salvage pathway for adenine and methionine in all tissues.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02735  Diaphyseal medullary stenosis with malignant fibrous histiocytoma

Gene

MTAP [HSA:4507] [KO:K00772]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA

Title

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

Journal

Am J Hum Genet 90:614-27 (2012)
DOI:10.1016/j.ajhg.2012.02.024

Reference

Authors

Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, Gelb BD

Title

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.

Journal

Am J Hum Genet 64:801-7 (1999)
DOI:10.1086/302297

LinkDB

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