MCID: GLY052
MIFTS: 9

Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset

Categories: Neuronal diseases, Metabolic 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, Infantile Onset:

Name: Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 59
Glycogenosis Due to Acid Maltase Deficiency, Infantile Onset 59
Alpha-1,4-Glucosidase Acid Deficiency, Infantile Onset 59
Gsd Due to Acid Maltase Deficiency, Infantile Onset 59
Glycogen Storage Disease Type Ii, Infantile Onset 59
Glycogen Storage Disease Type 2, Infantile Onset 59
Glycogenosis Type Ii, Infantile Onset 59
Glycogenosis Type 2, Infantile Onset 59
Pompe Disease, Infantile Onset 59
Gsd Type Ii, Infantile Onset 59
Gsd Type 2, Infantile Onset 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to acid maltase deficiency, infantile onset
Inheritance: Autosomal recessive; Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,infantile;

Classifications:



External Ids:

Orphanet 59 ORPHA308552
UMLS via Orphanet 74 C0751173 C3888924
ICD10 via Orphanet 34 E74.0

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

MalaCards based summary : Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset, is also known as glycogenosis due to acid maltase deficiency, infantile onset. An important gene associated with Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset is GAA (Glucosidase Alpha, Acid).

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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