MCID: GLY066
MIFTS: 11

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

Neuronal diseases, Metabolic diseases, Rare diseases categories

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

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Sources:
51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency:

Name: Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 51
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 51
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 51
Lactate Dehydrogenase a Deficiency 51
 
Glycogen Storage Disease Type 11 51
Ldh-M Subunit Deficiency 51
Glycogenosis Type 11 51
Gsd Type 11 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet51 284426
ICD10 via Orphanet28 E74.0

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).

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 syndrome10.3
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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Interventional clinical trials:

Search ClinicalTrials, 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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LDHALDHA, 20-BP DEL, EX6deletionPathogenic

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet