Disease #02239

Official abbreviation GKD
Name deficiency, glycerol kinase (GKD)
OMIM ID 307030
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 65
Phenotype entries for this disease 51
Associated with 1 gene GK
Associated tissues -
Disease features -
Remarks -


Individuals

65 entries on 1 page. Showing entries 1 - 65.
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00029663 - PubMed: Carrie 1999 - M - ? (unknown) - - 0 - - AHC, GKD, ID - GK, IL1RAPL1, NR0B1 GK, IL1RAPL1, NR0B1 3 1 Johan den Dunnen
00034400 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034401 - PubMed: Hellerud 2003 - M - Poland - - 0 - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034402 - PubMed: McCabe 1989 - M - United States - - 0 - - AHC, GKD dystrophic myopathy DMD DMD 1 1 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, DMD, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - 0 - - AHC, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034407 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034408 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034409 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - GKD, MRX;IDX - DMD, GK, NR0B1 DMD, GK, NR0B1 1 1 Johan den Dunnen
00034410 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - GKD, MRX;IDX , intellectual disability (HP:0001249) DMD, GK DMD, GK 1 1 Johan den Dunnen
00034411 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - ARX, DMD, GK, IL1RAPL1, NR0B1 ARX, DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034412 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034413 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034414 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034415 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 - ? - Hungary - - 0 - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034419 - PubMed: Romero 1997 uncle of 09447607-III.5 M - France - - 0 - - ?, GKD asymptomatic (MD); CK 668, large increase glycerol elimination urine DMD DMD 1 1 Johan den Dunnen
00034420 - PubMed: Romero 1997 half-brother of 09447607-III.5, 6; carrier mother M - France - - 0 - - ?, GKD asymptomatic, no calf hypertrophy, CK 9000; walk:20m, large increase glycerol elimination urine DMD DMD 1 1 Johan den Dunnen
00034421 - PubMed: Romero 1997 3-generation family, brother of III.5; carrier mother M - France - - 0 - - ?, GKD asymptomatic (MD); walk:15m, large increase glycerol elimination urine DMD DMD 1 5 Johan den Dunnen
00034422 - PubMed: Chelly 1988, UMD 727 database mother carrier M - (France) - 22y 0 - - AHC, GKD, MRX;IDX poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue DMD DMD 1 2 Johan den Dunnen
00034423 - L Medne ASHG 2010 A1669 younger brother of A1669Pat5 M - - - - 0 - - GKD , hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061 DMD, GK DMD, GK 1 1 Johan den Dunnen
00049063 - L Medne ASHG 2010 A1669 - M - - - - 0 - - AHC, GKD , hyponatremia, adrenal insufficiency, hyperCKemia; phenotype/onset: seizures; elevated serum CPK (HP:0003236) DMD DMD 1 1 Johan den Dunnen
00049064 - PubMed: Romero 1997, UMD 450 database 3-generation family; carrier mother M no France - - 0 - - 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 DMD, GK DMD, GK 2 1 Johan den Dunnen
00122371 10757639-Fam4482 PubMed: Jin 2000, PubMed: Greener 2002 2-generation family, 3 affected brothers (12y, 14y, 17y) M no United Kingdom (Great Britain) - - 0 - - 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 DMD, IL1RAPL1 DMD, GK, IL1RAPL1 1 3 Johan den Dunnen
00136823 - PubMed: Romero 1997 nephew of 09447607-III.5; carrier mother M - France - - 0 - - BMD, GKD calf hypertrophy, fell down frequently; large increase glycerol elimination urine; elevated serum CPK (HP:0003236) 3172 DMD DMD 1 2 Johan den Dunnen
00138088 - PubMed: Recan 1992, PubMed: Chelly 1988, PubMed: Marlhens 1987, PubMed: Matsumura 1993, UMD 706 database son of -50923032; family, 3 boys died after birth M - Algeria - >18m 0 - - AHC, GKD, MD poor psychomotor development; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue; elevated serum CPK (HP:0003236) 37-294; intellectual disability (HP:0001249) DMD DMD 1 1 Johan den Dunnen
00138293 - PubMed: McCabe - M - United States - - 0 - - AHC, DMD, GKD dystrophic myopathy DMD DMD 1 1 Johan den Dunnen
00138473 - PubMed: Hellerud - M - Poland - - 0 - - AHC, DMD, GKD - DMD DMD 1 1 Johan den Dunnen
00138600 - PubMed: Hellerud - M - Poland - - 0 - - AHC, DMD, GKD - DMD DMD 1 1 Johan den Dunnen
00210373 08651297.1 PubMed: Walker 1996, {OMIM300474:0001} - M - Belgium - >7y 0 - - GKD chronic pancreatis; glycerol serum 8.19mM, urine 210mM, leukocyte 0% GK GK GK 1 1 Johan den Dunnen
00210374 08651297.2 PubMed: Walker 1996, {OMIM300474:0002} brother of 08651297.3, carrier morther M - Sweden;Finland - - 0 - - GKD retarded growth/psychomotor development, fractures, abnormal teeth, seizures; glycerol serum 4.5mM, urine 283mM, fibroblast 4% GK GK GK 1 2 Johan den Dunnen
00210375 08651297.3 PubMed: Walker 1996, {OMIM300474:0002} brother of 08651297.2, carrier mother M - Sweden;Finland - - 0 - - 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 GK GK 1 1 Johan den Dunnen
00210376 08651297.4 PubMed: Walker 1996, {OMIM300474:0003} carrier mother M - Yugoslavia - - 0 - - GKD mental retardation; glycerol serum 8.6mM, urine 93.6mM, fibroblast 10% GK GK GK 1 1 Johan den Dunnen
00210377 09719371-1.III.1 PubMed: Sjarif 1998, {OMIM300474:0004} 3-generation family, 4 affecteds, 4 female carriers M - Netherlands - - 0 - - 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 GK GK 1 5 Johan den Dunnen
00210378 09719371-1.III.3 PubMed: Sjarif 1998, {OMIM300474:0004} - M - Netherlands - - 0 - - 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 GK GK 1 1 Johan den Dunnen
00210379 09719371-1.III.4 PubMed: Sjarif 1998, {OMIM300474:0004} nephew of 09719371-1.III.1 M - Netherlands - - 0 - - GKD 1.5y, birth weight 3450g, no hypoglycaemic episodes; glycerol plasma 4.8mM, urine 60mM, fibroblast 0.4% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210380 09719371-1.I.1 PubMed: Sjarif 1998, {OMIM300474:0004} maternal grandfather 09719371-1.III.1 M - Netherlands - >62y 0 - - GKD 62y healthy maternal grandfather, never experienced clinical episode of hypoglycaemia; glycerol plasma 5.5mM, urine 32mM, fibroblast 0.1% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210381 09719371-2.II.3 PubMed: Sjarif 1998, {OMIM300474:0005} carrier mother M - Netherlands - >8y 0 - - GKD mild psychomotor retardation, attention deficit disorder; glycerol plasma 1.3mM, urine 47mM, fibroblast 0.2% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210382 09719371-3.II.3 PubMed: Sjarif 1998, {OMIM300474:0006} carrier mother M - Indonesia - >1y6m 0 - - GKD delayed psychomotor development; glycerol plasma 3.6mM, urine 66mM, fibroblast 0.3% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210383 09719371-3.II.2 PubMed: Sjarif 1998, {OMIM300474:0006} brother of 09719371-3.II.3, carrier mother M - Indonesia - >3y6m 0 - - GKD never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.4mM, urine 41mM, fibroblast 0.3% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210384 09719371-3.II.1 PubMed: Sjarif 1998, {OMIM300474:0006} half brother of 09719371-3.II.3, carrier mother M - Indonesia - >8y 0 - - GKD never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.1mM, urine 24mM, fibroblast 0.3% glycerol incorporation GK GK 1 1 Johan den Dunnen
00210385 - PubMed: Zhang 2000, PubMed: Zhang 2006, {OMIM300474:0007} - M - United States African-American - 0 - - GKD pseudo-hypertriglyceridemia, chronic alcoholic on hemodialysis for essential hypertension; fibroblast GK activity 32% GK GK 1 1 Johan den Dunnen
00210386 10736265.all PubMed: Gaudet 2000, {OMIM300474:0007} 5 families, 15 affecteds, 14female carriers M - Canada French-Canadian - 0 - - GKD glycerol males 4.0mM, carriers 0.54mM GK GK 3 29 Johan den Dunnen
00210387 10851254-Pt4 PubMed: Sargent 2000 - M - United Kingdom (Great Britain) - - 0 - - GKD biochemically confirmed GKD GK GK 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) - - 0 - - GKD plasma glycerol 4.6 mmol, fibroblast GK 12% GK GK 1 6 Johan den Dunnen
00210389 10851254-Pt3 PubMed: Sargent 2000 asymptomatic M - United Kingdom (Great Britain) - - 0 - - GKD biochemically confirmed GKD GK GK 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) - - 0 - - GKD seizures; biochemically confirmed GKD GK GK 1 1 Johan den Dunnen
00210392 10851254-Fam3.Pt6 PubMed: Sargent 2000 died after birth, carrier mother M - United Kingdom (Great Britain) - - 0 - - GKD - GK GK 2 1 Johan den Dunnen
00210394 - PubMed: Dipple 2001 - M - Japan - - 0 - - GKD hypotonia, developmental delay; 14m-febrile seizure; fibroblast GK 5.55% GK GK 1 1 Johan den Dunnen
00210397 - PubMed: Dipple 2001 - M - United States - - 0 - - GKD 3.5y-omiting, lethargy, hypoglycemiaand seizures, development mildly delayed, ketonuric and clinically asymptomatic; fibroblast GK 11.6% ; IQ84; walk-18m GK GK 1 1 Johan den Dunnen
00210401 12636049.Pat1 PubMed: Hellerud 2003 - M - Italy - - 0 - - GKD 15d-persisten high TG; 4y-developmental dealy; glycerol serum 4.7mmol, urine 3730mmol, almost no GK activity; intellectual disability GK GK 1 1 Johan den Dunnen
00210402 12636049.Pat2 PubMed: Hellerud 2003 - F - Italy - - 0 - - GKD high urine glycerol; glycerol serum 2.5mmol, urine 1750mmol, slightly reduced GK activity GK GK 1 1 Johan den Dunnen
00210403 12636049.Pat3 PubMed: Hellerud 2003 - M - Italy - >64y 0 - - GKD glycerol serum 5.9mmol, urine 5410mmol GK GK 1 1 Johan den Dunnen
00210404 12636049.Pat4 PubMed: Hellerud 2003 - M - Italy - >11y 0 - - GKD glycerol serum 6.5mmol, urine 6584mmol GK GK 1 1 Johan den Dunnen
00210405 12636049.Pat5 PubMed: Hellerud 2003 brother of 12636049.Pat6 M - Italy - >61y 0 - - GKD glycerol serum 6.1mmol, urine 6983mmol GK GK 1 1 Johan den Dunnen
00210406 12636049.Pat6 PubMed: Hellerud 2003 brother of 12636049.Pat5 M - Italy - >58y 0 - - GKD glycerol serum 4.3mmol, urine 1105mmol GK GK 1 1 Johan den Dunnen
00210407 15026783-Pat1 PubMed: Sjarif 2004 carrier mother M - - - - 0 - - 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 GK GK 1 2 Johan den Dunnen
00210408 15026783-Pat2 PubMed: Sjarif 2004 carrier mother M - - - - 0 - - GKD normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22% GK GK 1 2 Johan den Dunnen
00210409 15026783-Pat3 PubMed: Sjarif 2004 - M - - - 5d 0 - - GKD born 34w, birth weight 1950g, severe asphyxia, suspected AHX; 5d deceased of circulatory collapse; glycerol plasma 12mmol, urine 31mmol, GK activity 16% GK GK 1 1 Johan den Dunnen
00210410 15026783-Pat4 PubMed: Sjarif 2004 - M - - - - 0 - - 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% GK GK 1 1 Johan den Dunnen
00210411 15303806-Pat1 PubMed: Hellerud 2004 - M - Sweden - >31y 0 - - 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% GK GK 1 1 Johan den Dunnen
00210412 15303806-Pat2 PubMed: Hellerud 2004 3-generation family, 3 affecteds, 3 female carriers M - Sweden - - 0 - - GKD born full term, birthweight 3730g, normal growth rate/mental development; glycerol serum 3.4-8.0mmol, urinary 128-390, fibroblast GK activity 3% GK GK 1 6 Johan den Dunnen
00210414 - PubMed: Zhang 2006 - M - United States - - 0 - - GKD GK activity 8.3% GK GK 1 1 Johan den Dunnen
00239779 patient/Case 45 PubMed: Loke 2009, PubMed: Tomar 2019 - M no Singapore - - 0 - - AHC, DMD, GKD see paper; ..., Duchenne muscular dystrophy, glycerol kinase deficiency; 6y-central precocious puberty DMD, GK, NR0B1 DMD, GK, NR0B1 1 1 Poh San Lai
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