Description:
GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED)
EHLERS-DANLOS SYNDROME, TYPE III
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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SCOTTISH/IRISH/ENGLISH
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Family Member
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4
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Relation to Proband
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son
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected with GSD IX; diagnosed at three months based on low muscle tone and failure to thrive; prolonged jaundice in infancy; some hypoglycemia treated with pancreatic enzymes and frequent meals; hepatomegaly in childhood; macroglossia; severe sleep apnea present since infancy; frequent respiratory infections; symptoms of EDS hypermobility type include: chronic joint pain in knees, shoulders, and neck; two jaw dislocations during surgery; pes planus; muscle hypotonia; and hiatal hernia; diagnosis of EDS could not be made based on clinical findings at the time of evaluation; mother (GM19634) is clinically affected with EDS hypermobility type; clinically unaffected father is GM19687; 2 brothers affected with GSD IX including GM19694; brother not clinically affected with GSD IX is GM19698; same donor as GM19695 Fibroblast |
| dbSNP |
dbSNP ID: 13385 |
| Gene Ontology |
GO:0004689 phosphorylase kinase activity |
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GO:0005516 calmodulin binding |
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GO:0005964 phosphorylase kinase complex |
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GO:0005975 carbohydrate metabolism |
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GO:0005977 glycogen metabolism |
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GO:0006091 energy pathways |
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GO:0006464 protein modification |
| NCBI Gene |
Gene ID:5256 |
| NCBI GTR |
130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB |
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306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| OMIM |
130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB |
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306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| Omim Description |
GLYCOGEN STORAGE DISEASE IX, INCLUDED |
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GLYCOGEN STORAGE DISEASE VIII |
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GLYCOGENOSIS VIIIA |
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HEPATIC PHOSPHORYLASE KINASE DEFICIENCY; PHK |
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LIVER GLYCOGENOSIS, X-LINKED, TYPE I |
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LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED |
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PHKA, INCLUDED |
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PHOSPHORYLASE KINASE DEFICIENCY OF LIVER; PYK; PYKL |
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X-LINKED LIVER GLYCOGENOSIS; XLGPHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT, INCLUDED; PHKA2, INCLUDED |
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