MCID: GLY093
MIFTS: 17

Glycogen Storage Disease Ixa

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Ixa

MalaCards integrated aliases for Glycogen Storage Disease Ixa:

Name: Glycogen Storage Disease Ixa 12 15
Glycogen Storage Disease Type Ixa 12
Glycogen Storage Disease Type 9a 12
Glycogenosis Type Ixa 12
Glycogenosis Type 9a 12
Gsd Type Ixa 12
Gsd Type 9a 12
Gsd9a 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111042
ICD10 33 E74.0

Summaries for Glycogen Storage Disease Ixa

Disease Ontology : 12 A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material basis in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.

MalaCards based summary : Glycogen Storage Disease Ixa, also known as glycogen storage disease type ixa, is related to glycogen storage disease ixa1 and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver.

Related Diseases for Glycogen Storage Disease Ixa

Symptoms & Phenotypes for Glycogen Storage Disease Ixa

Drugs & Therapeutics for Glycogen Storage Disease Ixa

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Ixa

Genetic Tests for Glycogen Storage Disease Ixa

Anatomical Context for Glycogen Storage Disease Ixa

MalaCards organs/tissues related to Glycogen Storage Disease Ixa:

41
Liver

Publications for Glycogen Storage Disease Ixa

Articles related to Glycogen Storage Disease Ixa:

# Title Authors Year
1
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. ( 24055370 )
2013

Variations for Glycogen Storage Disease Ixa

Expression for Glycogen Storage Disease Ixa

Search GEO for disease gene expression data for Glycogen Storage Disease Ixa.

Pathways for Glycogen Storage Disease Ixa

GO Terms for Glycogen Storage Disease Ixa

Sources for Glycogen Storage Disease Ixa

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
Content
Loading form....