MCID: MTP022

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria malady

Bone diseases, Fetal diseases, Rare diseases categories

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

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Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria, Aliases & Descriptions:

Name: Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria 47
 
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

Orphanet47 99646

Summaries for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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MalaCards based summary: Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria, also known as metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria. An important gene associated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria is IDH1 (isocitrate dehydrogenase 1 (NADP+), soluble). Affiliated tissues include bone.

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

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

idRelated DiseaseScoreTop Affiliating Genes
1d-2-hydroxyglutaric aciduria10.5

Symptoms for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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

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Drug clinical trials:

Search ClinicalTrials for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

Search NIH Clinical Center for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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

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

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

31
Bone

Animal Models for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria or affiliated genes

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Publications for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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

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

Variations for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Expression for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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

Pathways for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Compounds for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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GO Terms for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Products for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet