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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Sources:
47OMIM, 33MalaCards
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MalaCards: 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:47 614875

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

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Sources:
49Orphanet, 47OMIM
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Classifications:

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


Aliases & Descriptions:

metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria 49 47


External Ids:

OMIM47 614875

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

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17GeneCards, 18GeneDecks
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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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Sources:
47OMIM
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Clinical features from OMIM:

614875

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria:

33
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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Sources:
52PubMed
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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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet