MCID: GLY066
MIFTS: 11

Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency malady

Neuronal diseases, Metabolic diseases, Rare diseases categories

Summaries for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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MalaCards based summary: Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency, also known as glycogenosis due to lactate dehydrogenase m-subunit deficiency, is related to lactate dehydrogenase deficiency and fanconi-bickel syndrome. An important gene associated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency is LDHA (lactate dehydrogenase A).

Aliases & Classifications for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Sources:
47Orphanet, 26ICD10 via Orphanet
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Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency, Aliases & Descriptions:

Name: Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 47
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 47
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 47
Lactate Dehydrogenase a Deficiency 47
 
Glycogen Storage Disease Type 11 47
Ldh-M Subunit Deficiency 47
Glycogenosis Type 11 47
Gsd Type 11 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet47 284426
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Diseases related to Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactate dehydrogenase deficiency10.5
2fanconi-bickel syndrome10.2
3lactate dehydrogenase-b deficiency10.2

Symptoms for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Drugs & Therapeutics for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency

Search NIH Clinical Center for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency

Genetic Tests for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Anatomical Context for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Animal Models for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit... or affiliated genes

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Publications for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Variations for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Clinvar genetic disease variations for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1LDHALDHA, 20-BP DEL, EX6deletionPathogenic
2LDHANM_005566.3(LDHA): c.985G> T (p.Glu329Ter)single nucleotide variantPathogenicrs121912479GRCh37Chr 11, 18428814: 18428814

Expression for genes affiliated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Search GEO for disease gene expression data for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency.

Pathways for genes affiliated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Compounds for genes affiliated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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GO Terms for genes affiliated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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Products for genes affiliated with Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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

Sources for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit...

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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