MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 GeneticVariation disease BEFREE The different functional patterns were compared with the aim to identify a possible NS subgroup worthy of stringent hematological follow-up for an increased risk of MPD development. 23756559 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.020 Biomarker disease BEFREE Children with Noonan syndrome (NS) are at increased risk of developing juvenile myelomonocytic leukemia (JMML) or a myeloproliferative disorder associated with NS (MPD/NS) resembling JMML in the first weeks of life; whereas JMML is an aggressive disorder requiring hematopoietic stem cell transplantation, MPD/NS may resolve without treatment and cases with spontaneous remission have also been reported. 20829714 2011