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