Phenotypes for disease #02239 (GKD (deficiency, glycerol kinase (GKD)), OMIM:307030)

51 entries on 1 page. Showing entries 1 - 51.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000025682 - - - Unknown - - - - - Johan den Dunnen 00029663
0000027815 large increase glycerol elimination urine - - Familial, X-linked recessive - - - - - Johan den Dunnen 00034419
0000027816 large increase glycerol elimination urine - - Familial - - - - - Johan den Dunnen 00034420
0000027817 large increase glycerol elimination urine - - Familial - - - - - Johan den Dunnen 00034421
0000028015 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034410
0000028017 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034409
0000028020 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034408
0000028023 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034411
0000028026 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034412
0000028029 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034413
0000028032 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034414
0000028035 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034415
0000028038 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034404
0000028041 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034407
0000035809 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00034418
0000035812 - - - Unknown - - - - - Johan den Dunnen 00034423
0000035821 large increase glycerol elimination urine - - Familial, X-linked recessive - - - - - Johan den Dunnen 00049064
0000158938 chronic pancreatis; glycerol serum 8.19mM, urine 210mM, leukocyte 0% GK glycerol kinase deficiency GKD Unknown - - 61y refractory hypertriglyceridemia - Johan den Dunnen 00210373
0000158939 retarded growth/psychomotor development, fractures, abnormal teeth, seizures; glycerol serum 4.5mM, urine 283mM, fibroblast 4% GK glycerol kinase deficiency GKD Unknown - - 2y - - Johan den Dunnen 00210374
0000158940 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 glycerol kinase deficiency GKD Unknown - - 3y - - Johan den Dunnen 00210375
0000158941 mental retardation; glycerol serum 8.6mM, urine 93.6mM, fibroblast 10% GK glycerol kinase deficiency GKD Unknown - - 7y MR - Johan den Dunnen 00210376
0000158942 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 glycerol kinase deficiency GKD Unknown - - 20m gastrointestinal symptoms, ketoacidosis - Johan den Dunnen 00210377
0000158943 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 glycerol kinase deficiency GKD Unknown - - 1d hypoglycaemia - Johan den Dunnen 00210378
0000158944 1.5y, birth weight 3450g, no hypoglycaemic episodes; glycerol plasma 4.8mM, urine 60mM, fibroblast 0.4% glycerol incorporation glycerol kinase deficiency GKD Unknown - - - - - Johan den Dunnen 00210379
0000158945 62y healthy maternal grandfather, never experienced clinical episode of hypoglycaemia; glycerol plasma 5.5mM, urine 32mM, fibroblast 0.1% glycerol incorporation glycerol kinase deficiency GKD Unknown - - - none - Johan den Dunnen 00210380
0000158946 mild psychomotor retardation, attention deficit disorder; glycerol plasma 1.3mM, urine 47mM, fibroblast 0.2% glycerol incorporation glycerol kinase deficiency GKD Unknown - - 3y vomiting, ketoacidosis - Johan den Dunnen 00210381
0000158947 delayed psychomotor development; glycerol plasma 3.6mM, urine 66mM, fibroblast 0.3% glycerol incorporation glycerol kinase deficiency GKD Unknown - - 10m generalised seizures - Johan den Dunnen 00210382
0000158948 never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.4mM, urine 41mM, fibroblast 0.3% glycerol incorporation glycerol kinase deficiency GKD Unknown - - - - - Johan den Dunnen 00210383
0000158949 never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.1mM, urine 24mM, fibroblast 0.3% glycerol incorporation glycerol kinase deficiency GKD Unknown - - - - - Johan den Dunnen 00210384
0000158950 pseudo-hypertriglyceridemia, chronic alcoholic on hemodialysis for essential hypertension; fibroblast GK activity 32% glycerol kinase deficiency GKD Unknown - - 36y pseudohypertriglyceridemia - Johan den Dunnen 00210385
0000158951 glycerol males 4.0mM, carriers 0.54mM glycerol kinase deficiency GKD Unknown - - - - - Johan den Dunnen 00210386
0000158952 biochemically confirmed GKD glycerol kinase deficiency GKD Unknown - - - fasting hypoglycaemic coma - Johan den Dunnen 00210387
0000158953 plasma glycerol 4.6 mmol, fibroblast GK 12% glycerol kinase deficiency GKD Familial - - - fasting hypoglycaemic coma - Johan den Dunnen 00210388
0000158954 biochemically confirmed GKD glycerol kinase deficiency GKD Unknown - - - fasting hypoglycaemic coma - Johan den Dunnen 00210389
0000158955 seizures; biochemically confirmed GKD glycerol kinase deficiency GKD Unknown - - - seizures - Johan den Dunnen 00210390
0000158957 - glycerol kinase deficiency GKD Unknown - - - neonatal seizures - Johan den Dunnen 00210392
0000158959 hypotonia, developmental delay; 14m-febrile seizure; fibroblast GK 5.55% glycerol kinase deficiency GKD Unknown - - 5d glyceroluria - Johan den Dunnen 00210394
0000158962 3.5y-omiting, lethargy, hypoglycemiaand seizures, development mildly delayed, ketonuric and clinically asymptomatic; fibroblast GK 11.6% ; IQ84; walk-18m glycerol kinase deficiency GKD Unknown - - 2d seizures - Johan den Dunnen 00210397
0000158966 15d-persisten high TG; 4y-developmental dealy; glycerol serum 4.7mmol, urine 3730mmol, almost no GK activity; intellectual disability glycerol kinase deficiency, adrenal hypoplasia; mental retardation GKD;AHC;MR Unknown - - <14d failure to thrive, salt wating, convulsions - Johan den Dunnen 00210401
0000158967 high urine glycerol; glycerol serum 2.5mmol, urine 1750mmol, slightly reduced GK activity glycerol kinase deficiency GKD Unknown - - 2y seizures, developmental delay - Johan den Dunnen 00210402
0000158968 glycerol serum 5.9mmol, urine 5410mmol glycerol kinase deficiency GKD Unknown - - 64y persistent hypertriglyceridemia - Johan den Dunnen 00210403
0000158969 glycerol serum 6.5mmol, urine 6584mmol glycerol kinase deficiency GKD Unknown - - 11y persistent hypertriglyceridemia - Johan den Dunnen 00210404
0000158970 glycerol serum 6.1mmol, urine 6983mmol glycerol kinase deficiency GKD Unknown - - 61y persistent hypertriglyceridemia - Johan den Dunnen 00210405
0000158971 glycerol serum 4.3mmol, urine 1105mmol glycerol kinase deficiency GKD Unknown - - 58y persistent hypertriglyceridemia - Johan den Dunnen 00210406
0000158972 4.5y-mild asymmetric spasticity, convergent strabismus, myopia, mild facial dysmorphism, pseudohypertriglyceridemia; glycerol plasma 2.78mmol, urine 170mmol, GK activity 3%; mild intellectual disability glycerol kinase deficiency GKD Unknown - - 2y episodic vomiting, dysmorphic, mild mental retardation, hyperactivity - Johan den Dunnen 00210407
0000158973 normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22% glycerol kinase deficiency GKD Unknown - - 2y ketoacidosis, somnolence after vomiting, altered consciousness during gastrointestinal episodes - Johan den Dunnen 00210408
0000158974 born 34w, birth weight 1950g, severe asphyxia, suspected AHX; 5d deceased of circulatory collapse; glycerol plasma 12mmol, urine 31mmol, GK activity 16% glycerol kinase deficiency, adrenal hypoplasia GKD;AHC Unknown - - 1d small, respiratory distress sysndrome, adrenal glands imbalance - Johan den Dunnen 00210409
0000158975 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% glycerol kinase deficiency GKD Unknown - - 3y delayed development, hypotonia, positive Gowerís sign, persistent unexplained microcytic anemia - Johan den Dunnen 00210410
0000158976 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% glycerol kinase deficiency GKD Unknown - - 4y6m pale, somnolent, hyperventilating, complaining severe abdominal pains - Johan den Dunnen 00210411
0000158977 born full term, birthweight 3730g, normal growth rate/mental development; glycerol serum 3.4-8.0mmol, urinary 128-390, fibroblast GK activity 3% glycerol kinase deficiency GKD Unknown - - 1y6m seizures, unconscious - Johan den Dunnen 00210412
0000158979 GK activity 8.3% glycerol kinase deficiency GKD Unknown - - 14d hypertriglyceridemia - Johan den Dunnen 00210414
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