All individuals with variants in gene SLC37A4

54 entries on 1 page. Showing entries 1 - 54.
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00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00081070 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - GSD1B Glycogen storage disease Ib (OMIM:232220) 1 1 Daniel Trujillano
00206432 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206433 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206434 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206435 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206436 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206437 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206438 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206439 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206440 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206441 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206442 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206443 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206444 - - - F - Australia - - 0 - - GSD1B - 2 1 Shu Yau
00206445 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206446 - - - - - - - - 0 - - GSD1C - 1 1 SIB - Livia Famiglietti
00206447 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206448 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206449 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206450 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206451 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206452 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206453 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206454 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206455 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206456 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206457 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206458 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206459 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206460 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206461 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206462 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206463 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206464 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206465 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206466 - - - - - - - - 0 - - GSD1B - 1 1 SIB - Livia Famiglietti
00206467 - - - - - - - - 0 - - GSD1C - 1 1 SIB - Livia Famiglietti
00290257 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290258 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 155 Mohammed Faruq
00290259 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00290260 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00290261 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304288 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00324656 - - - F - Switzerland - 34y - - - SUD - 1 1 Cordula Haas
00329075 P3 PubMed: Wang 2013 - M - United States - - 0 - - GSD see paper; ..., high cholesterol, gout, liver adenoma, low WBC 3 1 LOVD
00329079 P8 PubMed: Wang 2013 - F - United States - - 0 - - GSD see paper; ..., hypoglycemia, hepatomegaly 1 1 LOVD
00329080 P9 PubMed: Wang 2013 - F - United States - - 0 - - GSD see paper; ..., hyperlipidemia, hyperlactatemia, failure to thrive, hepatomegaly 2 1 LOVD
00329081 P10 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - GSD see paper; ..., clinically diagnosed as GSDIa?; 6y-liver transplant; psychomotor retardation, urinary infection 2 1 LOVD
00362742 - PubMed: Tsangaris 2011 - - - Canada - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00362743 - PubMed: Tsangaris 2011 - - - Canada - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00415181 patient 1 PubMed: Mameesh 2017 sibling 1: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings M - Oman Omani - 0 - - retinal disease best corrected visual acuity right, left eye: 20/35, 20/40; refractive error (D) right, left eye: +12.50/-1.00 x 175deg, +13.50/-0.75 x 10deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):16.3,16.3; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: severe; pulmonary stenosis: present; gastroenterology symptoms: recurrent diarrhea; height: 164 cm (10th percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.2 (median 0.3); lactate ref. range (0.5-2.2) mmol/l: 1.6-6.6 (median 2.3); uric acid ref. range (0.20-0.45) mmol/l: 0.34-0.65 (median 0.45); triglycerides ref. range (0.0-2.3) mmol/l: 2.0-7.2 (median 2.5); cholesterol ref. range (3.5-5.2) mmol/l: 3.3-4.6 (median 3.6); aspartate aminotransferase ref. range (0-40) U/l: 28-52 (median 26); alanine aminotransferase ref. range (0-40) U/l: 15-68 (median 24); alkaline phosphatase ref. range (40-129) U/l: 139-263 (median 204); estimated gfr normal > 60 ml/min/1.73 m2: > 90; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): 0.6-1.9 (median 0.8); alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: enlarged liver with hyperechoic parenchymal appearance, possible focal adenoma in segment VII ; findings on latest magnetic resonance imaging abdomen: overall stationary two focal lesions of the liver which are most probably adenomas 1 1 LOVD
00415182 patient 2 PubMed: Mameesh 2017 sibling 2: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - 0 - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/50; refractive error (D) right, left eye: +15.25-1.25 x 160deg, +15.62-1.00 x 10deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):15.8,16.0; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: mild; pulmonary stenosis: absent; gastroenterology symptoms: absent; height: 139 cm (���4 SD for age); neutrophils ref. range (1.0-5.0) x 109/l: 0.3-1.6 (median 0.7); lactate ref. range (0.5-2.2) mmol/l: 2.4-8.3 (median 4.4); uric acid ref. range (0.20-0.45) mmol/l: 0.27-1.05 (median 0.82) on allopurinol; triglycerides ref. range (0.0-2.3) mmol/2.9 (median 7.5); cholesterol ref. range (3.5-5.2) mmol/l: 4.9-9.6 (median 5.9); aspartate aminotransferase ref. range (0-40) U/l: 31-87 (median 40); alanine aminotransferase ref. range (0-40) U/l: 22-84 (median 40); alkaline phosphatase ref. range (40-129) U/l: 130-350 (median 211); estimated gfr normal > 60 ml/min/1.73 m2: > 90; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): 5.0-105 (median 15) Overt nephropathy/Heavy Proteinuria > or = 70 mg/mmol, now on Lisinopril; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: hepatomegaly, fatty liver, small hypoechoic lesion in the right lobe, hyperechogenic kidneys; findings on latest magnetic resonance imaging abdomen: not done yet 1 1 LOVD
00415183 patient 3 PubMed: Mameesh 2017 sibling 3: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings F - Oman Omani - 0 - - retinal disease best corrected visual acuity right, left eye: 20/60, 20/50; refractive error (D) right, left eye: +12.00/-2.62 x 180deg, +12.12/-2.00 x 175deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):17.2,17.5; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: mild; pulmonary stenosis: present; gastroenterology symptoms: absent; height: 149 cm (just above the 3rd percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.11 (median 0.5); lactate ref. range (0.5-2.2) mmol/l: 1.5-5.2 (median 2.6); uric acid ref. range (0.20-0.45) mmol/l: 0.38-0.59 (median 0.4); triglycerides ref. range (0.0-2.3) mmol/l: 1.8-11.6 (median 3.0); cholesterol ref. range (3.5-5.2) mmol/l: 3.2-4.6 (median 3.8); aspartate aminotransferase ref. range (0-40) U/l: 22-105 (median 33); alanine aminotransferase ref. range (0-40) U/l: 19-82 (median 31); alkaline phosphatase ref. range (40-129) U/l: 159-224 (median 195); estimated gfr normal > 60 ml/min/1.73 m2: Normal; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): Normal; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: Hepatomegaly with fatty liver changes; findings on latest magnetic resonance imaging abdomen: not done yet 1 1 LOVD
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