GLYCOGEN STORAGE DISEASE IXa1

General Information (adopted from Orphanet):

Synonyms, Signs: LIVER GLYCOGENOSIS, X-LINKED, TYPE I
GSD9A2, INCLUDED
LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED
GSD9A1
XLG2, INCLUDED
GSD VIII, FORMERLY
GLYCOGEN STORAGE DISEASE VIII, FORMERLY
XLG1
GSD8, FORMERLY GLYCOGEN STORAGE DISEASE IXa2, INCLUDED
GSD IXa2, INCLUDED
GSD IXa1
Number of Symptoms 12
OrphanetNr:
OMIM Id: 306000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002240) Hepatomegaly 467 / 7739
2
(HPO:0001510) Growth delay 295 / 7739
3
(OMIM) Liver histology reveals glycogen-distended hepatocytes 1 / 7739
4
(OMIM) Mild elevation of transaminases 1 / 7739
5
(OMIM) Fasting ketosis 2 / 7739
6
(OMIM) Phosphorylase kinase normal in muscle 1 / 7739
7
(OMIM) Liver phosphorylase kinase (PHK) deficiency 1 / 7739
8
(OMIM) Mild elevation of triglycerides 1 / 7739
9
(OMIM) Variable hypoglycemia 2 / 7739
10
(OMIM) Final adult height normal 3 / 7739
11
(OMIM) Delayed motor development, mild 2 / 7739
12
(OMIM) Mild elevation of cholesterol 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), ...
Clinical Description OMIM Glycogen storage disease IXa is one of the mildest of the glycogenoses of man. Clinical symptoms include hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis These clinical and biochemical abnormalities gradually ...
Genotype-Phenotype Correlations OMIM In 4 unrelated patients with GSD IXa2, Hendrickx et al. (1996) identified 4 different mutations in the PHKA2 gene (306000.0011-306000.0014). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in ...
Molecular genetics OMIM In affected members of 4 unrelated families with GSD IXa1, Hendrickx et al. (1995) identified 4 different mutations in the PHKA2 gene (300798.0001-300798.0004). Clinical features were somewhat variable, but included growth retardation, hepatomegaly, elevated liver enzymes, and normalization ...