MCID: MTP022
MIFTS: 11

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

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Sources:
48OMIM, 34MalaCards
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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:48 614875

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

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Sources:
50Orphanet, 48OMIM
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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 50 48


External Ids:

OMIM48 614875

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

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Sources:
18GeneCards, 19GeneDecks
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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:
48OMIM
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Clinical features from OMIM:

614875

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

Search CenterWatch 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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Sources:
34MalaCards
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MalaCards organs/tissues related to Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria:

34
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:
53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet