GLYCOGEN STORAGE DISEASE IXc

General Information (adopted from Orphanet):

Synonyms, Signs: GSD9C
GSD IXc
Number of Symptoms 25
OrphanetNr:
OMIM Id: 613027
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001270) Motor delay 322 / 7739
2
(HPO:0003162) Fasting hypoglycemia 8 / 7739
3
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
4
(HPO:0001744) Splenomegaly 337 / 7739
5
(HPO:0002240) Hepatomegaly 467 / 7739
6
(HPO:0001408) Bile duct proliferation 22 / 7739
7
(HPO:0001394) Cirrhosis 102 / 7739
8
(HPO:0001510) Growth delay 295 / 7739
9
(HPO:0001946) Ketosis 17 / 7739
10
(HPO:0003128) Lactic acidosis 116 / 7739
11
(HPO:0002155) Hypertriglyceridemia 67 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0010547) Muscle flaccidity 466 / 7739
14
(HPO:0001252) Muscular hypotonia 990 / 7739
15
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
(OMIM) Fasting ketosis 2 / 7739
17
(OMIM) Moderately decreased to normal PHK activity in skeletal muscle 1 / 7739
18
(OMIM) Hepatic glycogen accumulation 1 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(HPO:0003593) Infantile onset 249 / 7739
21
(OMIM) Growth retardation in childhood 1 / 7739
22
(OMIM) Decreased PHK activity in liver 1 / 7739
23
(MedDRA:10016642) Fibrosis 9 / 7739
24
(OMIM) Mildly delayed motor development 1 / 7739
25
(OMIM) Final adult height normal 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis (Burwinkel ...
Clinical Description OMIM Lerner et al. (1982) described 3 sibs, a boy and 2 girls, with clinical, laboratory, and morphologic findings suggestive of glycogen storage disease IXa. However, the sibs in this study had an increased glycogen content not only in ...
Molecular genetics OMIM In 3 patients with GSD IXc, born of consanguineous parentage, Maichele et al. (1996) found homozygous PHKG2 mutations (172471.0001-172471.0003). One of the patients had been reported by Sovik et al. (1982).

Burwinkel et al. (1998) identified ...