MCID: GLY074
MIFTS: 10

Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards integrated aliases for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset:

Name: Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 60
Alpha-1,4-Glucosidase Acid Deficiency, Late-Onset 60
Gsd Due to Acid Maltase Deficiency, Late-Onset 60
Glycogen Storage Disease Type Ii, Late-Onset 60
Glycogen Storage Disease Type 2, Late-Onset 60
Glycogenosis Type Ii, Late-Onset 60
Glycogenosis Type 2, Late-Onset 60
Pompe Disease, Late-Onset 60
Gsd Type Ii, Late-Onset 60
Gsd Type 2, Late-Onset 60

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to acid maltase deficiency, late-onset
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:



External Ids:

ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C3888925
Orphanet 60 ORPHA420429

Summaries for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards based summary : Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset, also known as alpha-1,4-glucosidase acid deficiency, late-onset, is related to rigid spine muscular dystrophy 1. An important gene associated with Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset is GAA (Glucosidase Alpha, Acid).

Related Diseases for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Diseases related to Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 10.1

Symptoms & Phenotypes for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Drugs & Therapeutics for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset

Genetic Tests for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Anatomical Context for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Publications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Variations for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Expression for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset.

Pathways for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

GO Terms for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Sources for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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