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Glycogen storage disease due to liver phosphorylase kinase deficiency
2 OMIM references -
2 associated genes
107 connected diseases
No signs/symptoms info
Disease Type of connection
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Adrenocortical carcinoma
Angelman syndrome
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Cerebellar ataxia - hypogonadism
Fatal infantile cytochrome C oxidase deficiency
Isolated cytochrome C oxidase deficiency
Leigh syndrome with cardiomyopathy
Rare isolated myopia
Severe combined immunodeficiency due to DNA-PKcs deficiency
17p13.3 microduplication syndrome
3M syndrome
Acrokeratosis verruciformis of Hopf
Acute infantile liver failure-multisystemic involvement syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Alexander disease type I
Alexander disease type II
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Alternating hemiplegia of childhood
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant spastic paraplegia type 13
Behavioral variant of frontotemporal dementia
Cardiomyopathy - hypotonia - lactic acidosis
Catecholaminergic polymorphic ventricular tachycardia
Citrullinemia type II
Combined oxidative phosphorylation defect type 4
Congenital fibrosis of extraocular muscles
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Cornelia de Lange syndrome
Craniofacial-ulnar-renal syndrome
D,L-2-hydroxyglutaric aciduria
DPM1-CDG
Darier disease
Desmoplastic small round cell tumor
Developmental delay with autism spectrum disorder and gait instability
Distal 17p13.3 microdeletion syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Episodic ataxia type 6
Ewing sarcoma
Exercise-induced hyperinsulinism
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Fanconi anemia
Frontotemporal dementia with motor neuron disease
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Heritable pulmonary arterial hypertension
Hyperinsulinism-hyperammonemia syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Isolated ATP synthase deficiency
Juvenile amyotrophic lateral sclerosis
Kostmann syndrome
LEOPARD syndrome
Leigh syndrome with nephrotic syndrome
Melanoma of soft part
Metabolic myopathy due to lactate transporter defect
Miller-Dieker syndrome
Mosaic variegated aneuploidy syndrome
Multiple endocrine neoplasia type 1
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Neonatal intrahepatic cholestasis due to citrin deficiency
Noonan syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Pilocytic astrocytoma
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Progressive non-fluent aphasia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pulverulent cataract
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate dehydrogenase E3 deficiency
Retinitis pigmentosa
SSR4-CDG
Semantic dementia
Severe X-linked mitochondrial encephalomyopathy
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 26
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
3C syndrome
Autosomal dominant spastic paraplegia type 8
Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PHKA2 P46019300798
PHKG2 P15735172471
No signs/symptoms info available.