MCID: MTP022
MIFTS: 11

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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MalaCards based summary: Metaphyseal Chondromatosis 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.

Description from OMIM:46 614875

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 48 46 62


Classifications:

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


External Ids:

OMIM46 614875

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/GeneDecks gene sharing:

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

Symptoms for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Clinical features from OMIM:

614875

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:

32
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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Expression patterns in normal tissues for genes affiliated with Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet