MCID: MTP022
MIFTS: 10

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria malady

Bone diseases, Fetal diseases categories

Summaries for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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:46 614875

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

About this section
Sources:
48Orphanet, 46OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria 48 46


External Ids:

OMIM46 614875

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

Clinical Features for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

614875

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section

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

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

About this section

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

About this section

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet