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Term:
glycogen storage disease VIII (DOID:2751)
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Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Aicardi syndrome 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Choroideremia +   
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
congenital disorder of glycosylation It  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Danon disease  
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Dilated Cardiomyopathy 3A  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Fetal Akinesia Syndrome, X-Linked 
Glycogen Storage Disease 0, Liver  
Glycogen Storage Disease 0, Muscle  
glycogen storage disease I +   
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IX +   
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease VIII 
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Glycogen Storage Disease XI  
Glycogen Storage Disease XII  
Glycogen Storage Disease XIII  
glycogen storage disease XV  
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Leigh Syndrome, X-Linked  
lethal congenital glycogen storage disease of heart  
Macular Dystrophy, X-Linked +   
McLeod syndrome  
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
Midline Defects, X-Linked 
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2  
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Polyglucosan Body Disease, Adult Form  
Polyglucosan Body Myopathy 1 with or without Immunodeficiency  
Polyglucosan Body Myopathy 2  
Premature Ovarian Failure 2a  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondylometaphyseal Dysplasia, X-Linked 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: glycogen storage disease type VIII ;   glycogenosis 8 ;   glycogenosis type VIII ;   hepatic glycogen phosphorylase kinase deficiency ;   hepatic phosphorylase kinase deficiency ;   phosphorylase kinase deficiency of liver
Primary IDs: MESH:D006015
Definition Sources: MESH:D006015

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.