MCID: MTP033
MIFTS: 11

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
Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 57 59
Metaphyseal Enchondrodysplasia with 2-Hydroxyglutaric Aciduria 57
Spondyloenchondromatosis with D-2-Hydroxyglutaric Aciduria 57

Characteristics:

Orphanet epidemiological data:

59
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
Inheritance: Not applicable; Age of onset: Childhood,Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 614875
Orphanet 59 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 d-2-hydroxyglutaric aciduria 1. An important gene associated with Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic). Affiliated tissues include bone.

Description 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 d-2-hydroxyglutaric aciduria 1 10.3

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

Clinical features from OMIM:

614875

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:

41
Bone

Publications for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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

# Title Authors Year
1
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). ( 22025298 )
2011

Variations for Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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