Description:
GLYCOGEN STORAGE DISEASE VIII (IX, INCLUDED)
EHLERS-DANLOS SYNDROME, TYPE III
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of Connective Tissue, Muscle, and Bone |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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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Family Member
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1
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Relation to Proband
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proband
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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 |
EDS hypermobility type confirmed via clinical evaluation; hyperextensible easily bruised skin; increased suppination of elbows; joint hypermobility of elbows, shoulders, and knees; chronic joint pain; recurrent ankle sprains; frequent subluxations of back, neck and shoulders; multiple surgeries for joint instability and loose ligaments; pes planus; bladder/uterine prolapse; anal prolapse; vaginal vault prolapse; Bell's palsy; Raynaud's disease; chronic fatigue syndrome; severe osteoporosis; episodes of tachycardia, but normal EKG and echocardiogram; fibromyalgia; hypothyroidism (Hashimoto's) confirmed carrier of glycogen storage disease IX; three sons clinically affected with GSD IX, including GM19694 and GM19696; son not clinically affected with GSD IX is GM19698; same donor as GM19647 Fibroblast |
dbSNP |
dbSNP ID: 13351 |
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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