All individuals with variants in gene GK

71 entries on 1 page. Showing entries 1 - 71.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 10 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 12 1 Yu Sun
00029663 - PubMed: Carrie 1999 - M - - - - - - - AHC, GKD, ID - 1 1 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - - - - AHC, GKD, MRX;IDX intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034407 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034408 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034409 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - GKD, MRX;IDX - 1 1 Johan den Dunnen
00034410 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - GKD, MRX;IDX , intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034412 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034413 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034414 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034415 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034417 - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - MRX;IDX - 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - AHC, GKD, MRX;IDX - 1 1 Johan den Dunnen
00034423 - L Medne ASHG 2010 A1669 younger brother of A1669Pat5 M - - - - - - - GKD , hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061 1 1 Johan den Dunnen
00049064 - PubMed: Romero 1997, UMD 450 database 3-generation family; carrier mother M no France - - - - - GKD exercise-induced myalgia, recurrent pigmenturia, mild proximal muscle involvement, mild scapular winging, mild calf hypertrophy; CK level 1856-7820, large increase glycerol elimination urine 1 1 Johan den Dunnen
00112403 - PubMed: Guo 1995 - - - - - - - - - AHC phenotype inlcudes GKD; adrenal hypoplasia, congenital (OMIM300200);Glycerol kinase deficiency 1 1 Bert Bakker
00122371 10757639-Fam4482 PubMed: Jin 2000, PubMed: Greener 2002 2-generation family, 3 affected brothers (12y, 14y, 17y) M no United Kingdom (Great Britain) - - - - - AHC, DMD, GKD all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal hypoplasia; all bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild mental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82 (mean 72), eldest expected to perform similarly 1 3 Johan den Dunnen
00210373 08651297.1 PubMed: Walker 1996, OMIM:var0001 - M - Belgium - >7y - - - GKD chronic pancreatis; glycerol serum 8.19mM, urine 210mM, leukocyte 0% GK 1 1 Johan den Dunnen
00210374 08651297.2 PubMed: Walker 1996, OMIM:var0002 brother of 08651297.3, carrier morther M - Sweden;Finland - - - - - GKD retarded growth/psychomotor development, fractures, abnormal teeth, seizures; glycerol serum 4.5mM, urine 283mM, fibroblast 4% GK 1 2 Johan den Dunnen
00210375 08651297.3 PubMed: Walker 1996, OMIM:var0002 brother of 08651297.2, carrier mother M - Sweden;Finland - - - - - GKD proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 810; IQ70 1 1 Johan den Dunnen
00210376 08651297.4 PubMed: Walker 1996, OMIM:var0003 carrier mother M - Yugoslavia - - - - - GKD mental retardation; glycerol serum 8.6mM, urine 93.6mM, fibroblast 10% GK 1 1 Johan den Dunnen
00210377 09719371-1.III.1 PubMed: Sjarif 1998, OMIM:var0004 3-generation family, 4 affecteds, 4 female carriers M - Netherlands - - - - - GKD 1w-metabolic acidosis; small gestational age, lethargy preceded by fever/vomiting/diarrhoea; 7m-mild convergent strabismus, right inguinal hernia; glycerol plasma 5.2mM, urine 48mM, fibroblast 0.1% glycerol incorporation 1 5 Johan den Dunnen
00210378 09719371-1.III.3 PubMed: Sjarif 1998, OMIM:var0004 - M - Netherlands - - - - - GKD single episode hypoglycaemia (birht), small gestational age, birth weight 2450g, facial dysmorphism (square face, frontal bossing, low set mildly dysmorphic ears), hypoplastic right thumb cryptorchidism; glycerol plasma 6.4mM, urine 38mM, fibroblast 0.1% glycerol incorporation 1 1 Johan den Dunnen
00210379 09719371-1.III.4 PubMed: Sjarif 1998, OMIM:var0004 nephew of 09719371-1.III.1 M - Netherlands - - - - - GKD 1.5y, birth weight 3450g, no hypoglycaemic episodes; glycerol plasma 4.8mM, urine 60mM, fibroblast 0.4% glycerol incorporation 1 1 Johan den Dunnen
00210380 09719371-1.I.1 PubMed: Sjarif 1998, OMIM:var0004 maternal grandfather 09719371-1.III.1 M - Netherlands - >62y - - - GKD 62y healthy maternal grandfather, never experienced clinical episode of hypoglycaemia; glycerol plasma 5.5mM, urine 32mM, fibroblast 0.1% glycerol incorporation 1 1 Johan den Dunnen
00210381 09719371-2.II.3 PubMed: Sjarif 1998, OMIM:var0005 carrier mother M - Netherlands - >8y - - - GKD mild psychomotor retardation, attention deficit disorder; glycerol plasma 1.3mM, urine 47mM, fibroblast 0.2% glycerol incorporation 1 1 Johan den Dunnen
00210382 09719371-3.II.3 PubMed: Sjarif 1998, OMIM:var0006 carrier mother M - Indonesia - >1y6m - - - GKD delayed psychomotor development; glycerol plasma 3.6mM, urine 66mM, fibroblast 0.3% glycerol incorporation 1 1 Johan den Dunnen
00210383 09719371-3.II.2 PubMed: Sjarif 1998, OMIM:var0006 brother of 09719371-3.II.3, carrier mother M - Indonesia - >3y6m - - - GKD never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.4mM, urine 41mM, fibroblast 0.3% glycerol incorporation 1 1 Johan den Dunnen
00210384 09719371-3.II.1 PubMed: Sjarif 1998, OMIM:var0006 half brother of 09719371-3.II.3, carrier mother M - Indonesia - >8y - - - GKD never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.1mM, urine 24mM, fibroblast 0.3% glycerol incorporation 1 1 Johan den Dunnen
00210385 - PubMed: Zhang 2000, PubMed: Zhang 2006, OMIM:var0007 - M - United States African-American - - - - GKD pseudo-hypertriglyceridemia, chronic alcoholic on hemodialysis for essential hypertension; fibroblast GK activity 32% 1 1 Johan den Dunnen
00210386 10736265.all PubMed: Gaudet 2000, OMIM:var0007 5 families, 15 affecteds, 14female carriers M - Canada French-Canadian - - - - GKD glycerol males 4.0mM, carriers 0.54mM 3 29 Johan den Dunnen
00210387 10851254-Pt4 PubMed: Sargent 2000 - M - United Kingdom (Great Britain) - - - - - GKD biochemically confirmed GKD 1 1 Johan den Dunnen
00210388 10851254-Pt5 PubMed: Sargent 2000 3-generation family, 3 affecteds, 3 carrier females; asymptomatic grandfather (II.1) and great uncle (III.3) M - United Kingdom (Great Britain) - - - - - GKD plasma glycerol 4.6 mmol, fibroblast GK 12% 1 6 Johan den Dunnen
00210389 10851254-Pt3 PubMed: Sargent 2000 asymptomatic M - United Kingdom (Great Britain) - - - - - GKD biochemically confirmed GKD 1 1 Johan den Dunnen
00210390 10851254-Fam1.Pt1 PubMed: Sargent 2000 non-identical twin brother of 10851254-Fam1.Pt2 M - United Kingdom (Great Britain) - - - - - GKD seizures; biochemically confirmed GKD 1 1 Johan den Dunnen
00210391 10851254-Fam1.Pt2 PubMed: Sargent 2000 asymptomatic non-identical twin brother of 10851254-Fam1.Pt1 M - United Kingdom (Great Britain) - - - - - ? no seizures; biochemically confirmed GKD 1 1 Johan den Dunnen
00210392 10851254-Fam3.Pt6 PubMed: Sargent 2000 died after birth, carrier mother M - United Kingdom (Great Britain) - - - - - GKD - 2 1 Johan den Dunnen
00210393 10851254-con PubMed: Sargent 2000 - - - United Kingdom (Great Britain) - - - - - Healthy/Control - 1 4 Johan den Dunnen
00210394 - PubMed: Dipple 2001 - M - Japan - - - - - GKD hypotonia, developmental delay; 14m-febrile seizure; fibroblast GK 5.55% 1 1 Johan den Dunnen
00210395 - PubMed: Dipple 2001 - M - Canada French-Canadian - - - - ? hyperglycerolemia, glyceroluria, no seizures; 38y-myocardial infarction; fibroblast GK 5.53% 1 1 Johan den Dunnen
00210396 - PubMed: Dipple 2001 - M - United States - - - - - ? serum glycerol 6.2 mmol; normal growth, development, overweight, mildly hypertensive, hyperproteinuria (non-nephrotic range), normal renal function, borderline hyperglycemia, no seizures; fibroblast GK 5.81% 1 1 Johan den Dunnen
00210397 - PubMed: Dipple 2001 - M - United States - - - - - GKD 3.5y-omiting, lethargy, hypoglycemiaand seizures, development mildly delayed, ketonuric and clinically asymptomatic; fibroblast GK 11.6% ; IQ84; walk-18m 1 1 Johan den Dunnen
00210398 - PubMed: Dipple 2001 - M - Japan - - - - - ? urine massive glyceroluria, serum glycerol 32 mg/dl, computer tomography mild subarachnoid hemorrhage posterior falx (resolved after days, later clinically asymptomatic but has glyceroluria, normal growth and development, no seizures; fibroblast GK 12.7% 1 1 Johan den Dunnen
00210399 - PubMed: Dipple 2001 - M - United States - - - - - ? no seizures, pseudo-hypertriglyceridemia, elevated serum/urinary glycerol, asymptomatic GKD, normal growth and development, slight overweight, borderline high diastolic blood pressure; fibroblast GK 5.83% 1 1 Johan den Dunnen
00210400 16025401-Pat1 PubMed: Wibmer 2005 - M - Germany - - - - - ? pseudo-hypertriglyceridemia, asymptomatic GKD 1 1 Johan den Dunnen
00210401 12636049.Pat1 PubMed: Hellerud 2003 - M - Italy - - - - - GKD 15d-persisten high TG; 4y-developmental dealy; glycerol serum 4.7mmol, urine 3730mmol, almost no GK activity; intellectual disability 1 1 Johan den Dunnen
00210402 12636049.Pat2 PubMed: Hellerud 2003 - F - Italy - - - - - GKD high urine glycerol; glycerol serum 2.5mmol, urine 1750mmol, slightly reduced GK activity 1 1 Johan den Dunnen
00210403 12636049.Pat3 PubMed: Hellerud 2003 - M - Italy - >64y - - - GKD glycerol serum 5.9mmol, urine 5410mmol 1 1 Johan den Dunnen
00210404 12636049.Pat4 PubMed: Hellerud 2003 - M - Italy - >11y - - - GKD glycerol serum 6.5mmol, urine 6584mmol 1 1 Johan den Dunnen
00210405 12636049.Pat5 PubMed: Hellerud 2003 brother of 12636049.Pat6 M - Italy - >61y - - - GKD glycerol serum 6.1mmol, urine 6983mmol 1 1 Johan den Dunnen
00210406 12636049.Pat6 PubMed: Hellerud 2003 brother of 12636049.Pat5 M - Italy - >58y - - - GKD glycerol serum 4.3mmol, urine 1105mmol 1 1 Johan den Dunnen
00210407 15026783-Pat1 PubMed: Sjarif 2004 carrier mother M - - - - - - - GKD 4.5y-mild asymmetric spasticity, convergent strabismus, myopia, mild facial dysmorphism, pseudohypertriglyceridemia; glycerol plasma 2.78mmol, urine 170mmol, GK activity 3%; mild intellectual disability 1 2 Johan den Dunnen
00210408 15026783-Pat2 PubMed: Sjarif 2004 carrier mother M - - - - - - - GKD normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22% 1 2 Johan den Dunnen
00210409 15026783-Pat3 PubMed: Sjarif 2004 - M - - - 5d - - - GKD born 34w, birth weight 1950g, severe asphyxia, suspected AHX; 5d deceased of circulatory collapse; glycerol plasma 12mmol, urine 31mmol, GK activity 16% 1 1 Johan den Dunnen
00210410 15026783-Pat4 PubMed: Sjarif 2004 - M - - - - - - - GKD 2-year-old boy was born 37w, birth weight 2760g, complicated pregnancy (premature rupture membrane), neonatal meningitis; glycerol plasma 0.08mmol, urine 6.9mmol, GK activity 85% 1 1 Johan den Dunnen
00210411 15303806-Pat1 PubMed: Hellerud 2004 - M - Sweden - >31y - - - GKD metabolic acidosis, recovered rapidly intravenous glucose therapy, did not tolerate physical exercise as well as friends, excessive physical activity elicited vomiting, hypoglycaemic symptoms, unconsciousness; glycerol serum 2.1-8.4mmol, urinary 43-280, fibroblast GK activity 1% 1 1 Johan den Dunnen
00210412 15303806-Pat2 PubMed: Hellerud 2004 3-generation family, 3 affecteds, 3 female carriers M - Sweden - - - - - GKD born full term, birthweight 3730g, normal growth rate/mental development; glycerol serum 3.4-8.0mmol, urinary 128-390, fibroblast GK activity 3% 1 6 Johan den Dunnen
00210413 - PubMed: Zhang 2006 - M - United States - - - - - ? pseudo-hypertriglyceridemia, asymptomatic GKD; GK activity 6.8% 1 1 Johan den Dunnen
00210414 - PubMed: Zhang 2006 - M - United States - - - - - GKD GK activity 8.3% 1 1 Johan den Dunnen
00210415 - PubMed: Zhang 2006 - M - United States - - - - - ? pseudo-hypertriglyceridemia, asymptomatic GKD; GK activity 5.3% 1 1 Johan den Dunnen
00210416 - PubMed: Tarpey 2009 - - - - - >61y - - - MRX;IDX - 1 22 Johan den Dunnen
00210417 Emory-? from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00239779 patient/Case 45 PubMed: Loke 2009, PubMed: Tomar 2019 - M no Singapore - - - - - AHC, DMD, GKD see paper; ..., Duchenne muscular dystrophy, glycerol kinase deficiency; 6y-central precocious puberty 1 1 Poh San Lai
00289039 Case1 PubMed: Korkut 2016 - M - Turkey - - - - - ? see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m 1 1 Johan den Dunnen
00289040 case2 PubMed: Korkut 2016 - M - Turkey - - - - - ? see paper; ..., 18d- reduced breastfeeding, vomiting, weight loss 1 1 Johan den Dunnen
00289438 Pat1 PubMed: Heide 2015 - F - France - - - - - ID pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal 1 1 Johan den Dunnen
00289439 Pat2 PubMed: Heide 2015 - F - France - - - - - ID uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology 'athletic', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features 1 1 Johan den Dunnen
00428247 patient PubMed: Tao 2022 2-generation family, 1 affected, unaffected carrier mother M - China - 01y09m - - - DD see paper; ..., died 1y9m; global growth delay, persistent vomiting; hyperkalemia, hyponatremia, high level of creatine kinase, adrenal cortical hyperplasia 1 1 Johan den Dunnen
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.