Glycogen storage disease due to phosphorylase kinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Gycogenosis due to PhK deficiency
GSD type IX
Glycogen storage disease due to PhK deficiency
GSD due to phosphorylase kinase deficiency
GSD type 9
Glycogen storage disease type 9
Glycogen storage disease type IX
Glycogenosis type 9
Glycogenosis type IX
Glycogenosis due to phosphorylase kinase deficiency
Number of Symptoms 12
OrphanetNr: 370
OMIM Id: 261750
300559
306000
613027
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002240) Hepatomegaly 467 / 7739
2
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
3
 (HPO:0002014) Diarrhea 225 / 7739
4
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
5
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
6
 (HPO:0001943) Hypoglycemia Very frequent [Orphanet] 131 / 7739
7
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
8
 (HPO:0001324) Muscle weakness 859 / 7739
9
 (HPO:0009051) Increased muscle glycogen content 8 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: