Disease #02239 (GKD (deficiency, glycerol kinase (GKD)), OMIM:307030)

Official abbreviation GKD
Name deficiency, glycerol kinase (GKD)
OMIM ID 307030
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 70
Phenotype entries for this disease 51
Associated with 1 gene GK
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

70 entries on 1 page. Showing entries 1 - 70.
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00029663 - PubMed: Carrie 1999 - M - - - - - - - AHC, GKD, ID - GK, IL1RAPL1, NR0B1 GK, IL1RAPL1, NR0B1 3 1 Johan den Dunnen
00034400 - PubMed: Hellerud 2003 - M - Poland - - - - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034401 - PubMed: Hellerud 2003 - M - Poland - - - - - AHC, GKD - DMD DMD 1 1 Johan den Dunnen
00034402 - PubMed: McCabe 1989 - M - United States - - - - - AHC, GKD dystrophic myopathy DMD DMD 1 1 Johan den Dunnen
00034404 - PubMed: Zhang 2004, Journal: Zhang 2004 - M no United States - - - - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034405 - PubMed: Zhang 2004 - M - - - - - - - AHC, DMD, GKD, MRX;IDX intellectual disability (HP:0001249) DMD, GK, IL1RAPL1, NR0B1 DMD 1 1 Johan den Dunnen
00034406 - PubMed: Zhang 2004 - M - - - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - AHC, GKD, MRX;IDX - DMD, GK, IL1RAPL1, NR0B1 DMD, GK, IL1RAPL1, NR0B1 1 1 Johan den Dunnen
00034418 - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 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 - - - - - ?, 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 - - - - - ?, 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 - - - - - ?, 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 - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - 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) - - - - - 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 - - - - - 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 - - - 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 - - - - - AHC, DMD, GKD dystrophic myopathy DMD DMD 1 1 Johan den Dunnen
00138473 - PubMed: Hellerud - M - Poland - - - - - AHC, DMD, GKD - DMD DMD 1 1 Johan den Dunnen
00138600 - PubMed: Hellerud - M - Poland - - - - - AHC, DMD, GKD - DMD DMD 1 1 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 GK 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 GK 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 GK GK 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 GK 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 GK GK 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 GK GK 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 GK GK 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 GK GK 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 GK GK 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 GK GK 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 GK GK 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 GK GK 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% GK GK 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 GK GK 3 29 Johan den Dunnen
00210387 10851254-Pt4 PubMed: Sargent 2000 - M - United Kingdom (Great Britain) - - - - - 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) - - - - - 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) - - - - - 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) - - - - - 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) - - - - - GKD - GK GK 2 1 Johan den Dunnen
00210394 - PubMed: Dipple 2001 - M - Japan - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - GKD glycerol serum 5.9mmol, urine 5410mmol GK GK 1 1 Johan den Dunnen
00210404 12636049.Pat4 PubMed: Hellerud 2003 - M - Italy - >11y - - - 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 - - - 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 - - - GKD glycerol serum 4.3mmol, urine 1105mmol GK GK 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 GK GK 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% GK GK 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% GK GK 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% GK GK 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% GK GK 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% GK GK 1 6 Johan den Dunnen
00210414 - PubMed: Zhang 2006 - M - United States - - - - - 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 - - - - - 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
00437014 patient PubMed: Pizza 2023 2-generation family, 1 affected, unaffected carrier mother M no Italy - - - - - DMD, GKD, ID see paper; ..., pregnancy complicated (threatened miscarriage first trimester, birth 38w-elective caesarean section, weight 3200 g (25-50th centile), length 51 cm (50-75th centile) , OFC 34.5 cm (50th centile), cyanosis, respiratory distress, delay acquisition physiological motor milestones; 7m-unable to hold his head/sit up unassisted; 10m-global developmental delay, high blood transaminases levels - DMD, GK 1 1 Johan den Dunnen
00437015 Pat1 PubMed: Ramanjam 2010 family, 2 affected brothers M - South Africa - - - - - DMD, GKD see paper; ..., birth at term by caesarian section, weight 3.1kg, transient tachypnea, transient hypoglycemia, jaundice requiring phototherapy; 19d-dehydrated, jaundiced, poor feeding, intermittent vomiting; developmental delay; global weakness; calf hypertrophy; reflexes absent, intellectual disability; elevated CK (2.507 U/L) DMD DMD 1 2 Johan den Dunnen
00437016 Pat2 PubMed: Ramanjam 2010 brother M - South Africa - - - - - DMD, GKD see paper; ..., birth elective caesarian; hypotonia; waddling gait; difficulty in climbing stairs, intellectual disability; elevated CK (5.307 U/L) DMD DMD 1 1 Johan den Dunnen
00437017 patient PubMed: Ma 2004 - M - China - - - - - AHC, DMD, GKD see paper; ..., 2y6m-nausea, vomiting; elevated CK (5798 U/L) DMD DMD 1 1 Johan den Dunnen
00437019 patient PubMed: Jamroz 2010 - M - India - - - - - DMD, GKD see paper; ..., uncomplicated pregnancy, birth 39w, weight of 3050g, length 50cm, OFC 34cm; neonatal, weight loss, dehydration; 4m-failure to thrive, strabismus convergens, axial hypotonia, increased muscle tone extremities, normal deep tendon reflexes; elevated CK (10.818 U/L); distal hypertonia, intellectual disability; 22m-developmental delay, delayed motor skills DMD DMD, GK 1 1 Johan den Dunnen
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