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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

MedGen UID:
766872
•Concept ID:
C3553958
•
Disease or Syndrome
Synonyms: METAPHYSEAL ENCHONDRODYSPLASIA WITH 2-HYDROXYGLUTARIC ACIDURIA; Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria; SPONDYLOENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0013941
OMIM®: 614875
Orphanet: ORPHA99646

Definition

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Follow this link to review classifications for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria in Orphanet.

Recent clinical studies

Diagnosis

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS
J Med Genet 2013 Nov;50(11):754-9. Epub 2013 Sep 18 doi: 10.1136/jmedgenet-2013-101961. PMID: 24049096

Therapy

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
Srinivasan A, Zhou Y, Scordino T, Prabhu S, Wierenga A, Simon G, Wierenga KJ, Thompson J, Shah R, Sinha AA
Pediatr Hematol Oncol 2020 Aug;37(5):431-437. Epub 2020 Mar 13 doi: 10.1080/08880018.2020.1737284. PMID: 32166993

Prognosis

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafé L, Dionisi-Vici C, Superti-Furga A
Am J Med Genet A 2011 Nov;155A(11):2609-16. doi: 10.1002/ajmg.a.34325. PMID: 22025298

Clinical prediction guides

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafé L, Dionisi-Vici C, Superti-Furga A
Am J Med Genet A 2011 Nov;155A(11):2609-16. doi: 10.1002/ajmg.a.34325. PMID: 22025298

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