MCID: MTP033
MIFTS: 15

Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

MalaCards integrated aliases for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria:

Name: Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 57 6
Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 57 58
Metaphyseal Enchondrodysplasia with 2-Hydroxyglutaric Aciduria 57
Spondyloenchondromatosis with D-2-Hydroxyglutaric Aciduria 57

Characteristics:

Orphanet epidemiological data:

58
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
Inheritance: Not applicable; Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614875
Orphanet 58 ORPHA99646

Summaries for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

MalaCards based summary : Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria, also known as metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria, is related to leukemia, acute myeloid and organic acidemia. An important gene associated with Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1). Affiliated tissues include myeloid.

More information from OMIM: 614875

Related Diseases for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Diseases related to Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 10.4
2 organic acidemia 10.4
3 leukemia 10.4
4 myeloid leukemia 10.4
5 hypotonia 10.4
6 d-2-hydroxyglutaric aciduria 1 10.4
7 2-hydroxyglutaric aciduria 10.4

Graphical network of the top 20 diseases related to Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria:



Diseases related to Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Symptoms & Phenotypes for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Clinical features from OMIM®:

614875 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Search Clinical Trials , NIH Clinical Center for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Genetic Tests for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Anatomical Context for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

MalaCards organs/tissues related to Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria:

40
Myeloid

Publications for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Articles related to Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria:

# Title Authors PMID Year
1
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 57
22057234 2011
2
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 57
22057236 2011
3
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. 57
15602086 2005
4
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. 57
12868470 2003
5
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. 57
10883451 2000
6
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. 61
32166993 2020
7
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. 61
29744569 2018
8
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). 61
22025298 2011

Variations for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

ClinVar genetic disease variations for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDH1 NM_001282386.1(IDH1):c.395G>A (p.Arg132His) SNV Pathogenic 156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388

Expression for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Search GEO for disease gene expression data for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria.

Pathways for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

GO Terms for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Sources for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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