77:
37:
347:
301:
1108:
289:
196:
is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the
1003:
988:
1154:
397:
condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.
579:. In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.).
2189:
1235:
537:
1621:
1482:
1440:
2245:
2109:
1343:
2145:
1956:
1505:
1147:
876:
Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity".
1803:
1240:
2005:
278:
cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells. About 120 mutations are associated with this condition and
2577:
2562:
1844:
2452:
2300:
1140:
809:
630:"Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome"
843:
2334:
1167:
2371:
2567:
2447:
2114:
2090:
1818:
1813:
2572:
2290:
2025:
1735:
248:
1571:
1018:
405:
It was first described in 1952 by
American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012) and colleagues at the
2080:
2366:
356:
In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:
2324:
2150:
1323:
853:
819:
2295:
409:
in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.
2230:
1949:
1822:
2457:
2076:
2399:
1979:
1626:
406:
1707:
2481:
1995:
1871:
1839:
2000:
1510:
418:
300:
2537:
2462:
2356:
2010:
1942:
1913:
1245:
2532:
1903:
1554:
1163:
267:
54:
2235:
2492:
2352:
2015:
1908:
1798:
1515:
1487:
1255:
2527:
2194:
1202:
1197:
1029:
2497:
2421:
2211:
2140:
1703:
1368:
1123:
150:
2512:
2361:
2319:
2269:
2221:
2163:
1697:
1566:
1348:
2344:
2176:
1852:
1287:
1091:
453:
512:
483:
2132:
2058:
2030:
1713:
1663:
1418:
1175:
76:
2329:
2040:
1918:
1769:
1658:
1318:
1273:
1250:
1007:
36:
2502:
2202:
2100:
1653:
1576:
1543:
1212:
394:
85:
2394:
2085:
2068:
1923:
1395:
1040:
954:
936:
893:
849:
815:
790:
659:
651:
584:
531:
382:
350:
346:
109:
49:
2507:
2381:
1878:
1760:
1741:
1558:
1533:
944:
928:
885:
780:
770:
641:
628:
Hagemann, Nina; Hou, Xiaomin; Goody, Roger S.; Itzen, Aymelt; Erdmann, Kai S. (2017-06-01).
372:
366:
169:
154:
66:
2442:
2389:
2265:
2260:
2181:
1987:
1866:
1861:
1693:
1613:
1413:
1217:
466:
317:
252:
889:
445:
1132:
1113:
732:
251:. At least one mechanism by which these mutations cause this syndrome is by loss of its
2522:
2437:
2310:
2275:
2207:
1773:
1727:
1538:
1477:
1207:
949:
916:
785:
758:
288:
256:
1012:
2556:
2517:
2280:
2240:
2168:
2155:
2053:
2048:
2020:
1808:
1667:
1600:
1455:
218:
161:
70:
2127:
1644:
1460:
1390:
1385:
1328:
377:
126:
1069:
681:
551:
1034:
1965:
1793:
1636:
1075:
230:
214:
202:
165:
1045:
707:
1887:
1856:
1648:
1525:
1497:
1265:
1179:
1080:
997:
932:
576:
324:
271:
115:
940:
655:
1783:
1432:
1428:
1377:
1363:
1064:
210:
189:
173:
146:
62:
958:
897:
794:
775:
663:
588:
575:
Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01).
1778:
1723:
1689:
1677:
1604:
1591:
1339:
1297:
1086:
360:
193:
157:
142:
980:
1681:
1405:
1335:
1310:
1301:
1227:
646:
629:
446:"Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology"
275:
226:
222:
58:
1934:
1469:
1188:
992:
206:
177:
233:. This problem is known as Fanconi-type renal tubular dysfunction.
2413:
334:
263:
198:
2409:
2250:
1023:
603:
243:
100:
2479:
1977:
1938:
1136:
604:"OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL"
329:
845:
484:"Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient"
145:
recessive disorder characterized by congenital cataracts,
320:
Among the different investigations that can de done are:
282:
gene which is associated with oculocerebrorenal syndrome
316:
Diagnosis of oculocerebrorenal syndrome can be done via
970:
915:
Bökenkamp, Arend; Ludwig, Michael (1 January 2016).
552:"Fanconi syndrome: MedlinePlus Medical Encyclopedia"
2430:
2408:
2380:
2343:
2309:
2220:
2099:
2067:
2039:
1986:
1896:
1838:
1768:
1758:
1722:
1676:
1635:
1612:
1599:
1589:
1552:
1524:
1496:
1468:
1453:
1427:
1404:
1376:
1361:
1309:
1295:
1286:
1264:
1226:
1187:
1174:
1055:
974:
917:"The oculocerebrorenal syndrome of Lowe: an update"
583:. Seattle (WA): University of Washington, Seattle.
121:
108:
94:
84:
48:
26:
21:
2156:Danon disease/glycogen storage disease Type IIb
1236:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1622:6-Pyruvoyltetrahydropterin synthase deficiency
513:"Orphanet: Oculocerebrorenal syndrome of Lowe"
2261:Color blindness (red and green, but not blue)
2246:Alpha-thalassemia mental retardation syndrome
1950:
1148:
168:. Lowe syndrome can be considered a cause of
8:
2146:Glucose-6-phosphate dehydrogenase deficiency
1506:2-Methylbutyryl-CoA dehydrogenase deficiency
262:This protein is associated with the primary
241:This syndrome is caused by mutations in the
1804:Carbamoyl phosphate synthetase I deficiency
1241:3-Methylcrotonyl-CoA carboxylase deficiency
536:: CS1 maint: numeric names: authors list (
2476:
1974:
1957:
1943:
1935:
1765:
1609:
1596:
1465:
1373:
1306:
1292:
1184:
1155:
1141:
1133:
971:
842:Loring, David W.; Bowden, Stephen (2015).
811:Encyclopedia of human genetics and disease
75:
35:
18:
2006:X-linked severe combined immunodeficiency
948:
848:. Oxford University Press, Incorporated.
784:
774:
733:"Lowe syndrome - Conditions - GTR - NCBI"
645:
393:Because oculocerebrorenal syndrome is an
172:(bicarbonaturia, renal tubular acidosis,
878:American Journal of Diseases of Children
345:
2400:X-linked nephrogenic diabetes insipidus
2325:Hypohidrotic ectodermal dysplasia (EDA)
1483:Isobutyryl-CoA dehydrogenase deficiency
430:
284:
2335:X-linked endothelial corneal dystrophy
921:Pediatric Nephrology (Berlin, Germany)
529:
478:
476:
462:
451:
440:
438:
436:
434:
188:Boys with Lowe syndrome are born with
44:Infant with oculocerebrorenal syndrome
2291:Charcot–Marie–Tooth disease (CMTX2-3)
2115:Ornithine transcarbamylase deficiency
2091:X-linked adrenal hypoplasia congenita
1819:Ornithine transcarbamylase deficiency
1814:N-Acetylglutamate synthase deficiency
675:
673:
511:RESERVED, INSERM US14 -- ALL RIGHTS.
506:
504:
7:
2026:X-linked lymphoproliferative disease
1996:Chronic granulomatous disease (CYBB)
1736:Dopamine beta hydroxylase deficiency
890:10.1001/archpedi.1952.02040060030004
814:. Santa Barbara, Calif.: Greenwood.
249:inositol polyphosphate-5-phosphatase
2372:Emery–Dreifuss muscular dystrophy 1
1572:Methylmalonyl-CoA mutase deficiency
2081:Spinal and bulbar muscular atrophy
14:
2151:Pyruvate dehydrogenase deficiency
1324:Glutathione synthetase deficiency
763:Orphanet Journal of Rare Diseases
2231:X-linked intellectual disability
1106:
299:
287:
2578:Syndromes affecting the kidneys
2563:Amino acid metabolism disorders
2077:Androgen insensitivity syndrome
2453:Simpson–Golabi–Behmel syndrome
1627:Tetrahydrobiopterin deficiency
407:Massachusetts General Hospital
1:
2422:AMELX Amelogenesis imperfecta
2362:Centronuclear myopathy (MTM1)
2059:X-linked sideroblastic anemia
1872:Lysinuric protein intolerance
1246:3-Methylglutaconic aciduria 1
2568:X-linked recessive disorders
2448:Smith–Fineman–Myers syndrome
2296:Pelizaeus–Merzbacher disease
2190:Purine–pyrimidine metabolism
1511:Beta-ketothiolase deficiency
419:List of congenital disorders
306:X-link recessive inheritance
2573:Syndromes affecting the eye
2538:Craniofrontonasal dysplasia
2463:Nasodigitoacoustic syndrome
2011:X-linked agammaglobulinemia
1914:Ethylmalonic encephalopathy
2594:
2533:Orofaciodigital syndrome 1
2367:Conradi–Hünermann syndrome
2120:Oculocerebrorenal syndrome
1904:2-Hydroxyglutaric aciduria
1883:Oculocerebrorenal syndrome
1124:Oculocerebrorenal syndrome
706:Reference, Genetics Home.
680:Reference, Genetics Home.
268:retinal pigment epithelial
135:Oculocerebrorenal syndrome
55:Obstetrics and gynaecology
22:Oculocerebrorenal syndrome
2493:X-linked hypophosphatemia
2488:
2475:
2353:Becker muscular dystrophy
2016:Hyper-IgM syndrome type 1
1973:
1909:Aminoacylase 1 deficiency
1799:Argininosuccinic aciduria
1708:Hermansky–Pudlak syndrome
1516:Maple syrup urine disease
1488:Maple syrup urine disease
1256:Maple syrup urine disease
933:10.1007/s00467-016-3343-3
808:Kelly, Evelyn B. (2013).
164:and low-molecular-weight
43:
34:
2458:Mohr–Tranebjærg syndrome
2001:Wiskott–Aldrich syndrome
1198:Glutaric acidemia type 1
363:control (via medication)
2498:Focal dermal hypoplasia
2212:Occipital horn syndrome
2141:Carbohydrate metabolism
1704:Oculocutaneous albinism
712:Genetics Home Reference
686:Genetics Home Reference
151:intellectual disability
2513:Incontinentia pigmenti
2320:Dyskeratosis congenita
2164:Lipid storage disorder
2086:KAL1 Kallmann syndrome
1823:translocase deficiency
1567:Methylmalonic acidemia
1349:Glycine encephalopathy
776:10.1186/1750-1172-1-16
461:Cite journal requires
353:
247:gene which encodes an
2236:Coffin–Lowry syndrome
2177:Mucopolysaccharidosis
1853:Solute carrier family
1168:amino acid metabolism
349:
2528:Lujan–Fryns syndrome
2195:Lesch–Nyhan syndrome
2133:Adrenoleukodystrophy
2031:Properdin deficiency
1714:Waardenburg syndrome
1664:Tyrosinemia type III
1419:Prolidase deficiency
737:www.ncbi.nlm.nih.gov
2330:X-linked ichthyosis
1919:Fumarase deficiency
1659:Tyrosinemia type II
1319:D-Glyceric acidemia
1274:Hypertryptophanemia
1251:Isovaleric acidemia
2503:Fragile X syndrome
2313:and related tissue
1980:X-linked recessive
1654:Tyrosinemia type I
1577:Propionic acidemia
1544:Hypermethioninemia
1213:Pipecolic acidemia
1056:External resources
647:10.4161/sgtp.19380
395:X-linked recessive
354:
184:Signs and symptoms
125:Physical therapy,
2550:
2549:
2546:
2545:
2482:X-linked dominant
2471:
2470:
2431:No primary system
1932:
1931:
1924:Trimethylaminuria
1834:
1833:
1830:
1829:
1754:
1753:
1750:
1749:
1585:
1584:
1449:
1448:
1396:Urocanic aciduria
1357:
1356:
1282:
1281:
1101:
1100:
927:(12): 2201–2212.
383:Potassium citrate
351:Potassium citrate
132:
131:
110:Diagnostic method
16:Medical condition
2585:
2508:Aicardi syndrome
2477:
1975:
1959:
1952:
1945:
1936:
1879:Fanconi syndrome
1766:
1742:Brunner syndrome
1610:
1597:
1534:Cystathioninuria
1466:
1374:
1307:
1293:
1185:
1157:
1150:
1143:
1134:
1110:
1109:
972:
962:
952:
902:
901:
873:
867:
866:
864:
862:
839:
833:
832:
830:
828:
805:
799:
798:
788:
778:
754:
748:
747:
745:
743:
729:
723:
722:
720:
718:
703:
697:
696:
694:
692:
677:
668:
667:
649:
625:
619:
618:
616:
614:
600:
594:
592:
572:
566:
565:
563:
562:
548:
542:
541:
535:
527:
525:
523:
508:
499:
498:
496:
494:
480:
471:
470:
464:
459:
457:
449:
442:
373:Physical therapy
367:Nasogastric tube
303:
291:
170:Fanconi syndrome
155:proximal tubular
80:
79:
67:medical genetics
39:
19:
2593:
2592:
2588:
2587:
2586:
2584:
2583:
2582:
2553:
2552:
2551:
2542:
2484:
2467:
2443:McLeod syndrome
2426:
2404:
2390:Alport syndrome
2376:
2339:
2305:
2266:Ocular albinism
2216:
2182:Hunter syndrome
2095:
2063:
2035:
1982:
1969:
1963:
1933:
1928:
1892:
1867:Iminoglycinuria
1862:Hartnup disease
1843:
1826:
1776:
1746:
1718:
1694:Ocular albinism
1672:
1631:
1614:Phenylketonuria
1581:
1548:
1520:
1492:
1459:
1445:
1423:
1414:Hyperprolinemia
1400:
1369:α-ketoglutarate
1367:
1353:
1344:GAMT deficiency
1278:
1260:
1222:
1218:Saccharopinuria
1191:/straight chain
1170:
1161:
1131:
1130:
1129:
1111:
1107:
1102:
1097:
1096:
1051:
1050:
983:
969:
914:
911:
909:Further reading
906:
905:
875:
874:
870:
860:
858:
856:
841:
840:
836:
826:
824:
822:
807:
806:
802:
759:"Lowe Syndrome"
756:
755:
751:
741:
739:
731:
730:
726:
716:
714:
705:
704:
700:
690:
688:
682:"Lowe syndrome"
679:
678:
671:
627:
626:
622:
612:
610:
602:
601:
597:
577:"Lowe Syndrome"
574:
573:
569:
560:
558:
556:medlineplus.gov
550:
549:
545:
528:
521:
519:
510:
509:
502:
492:
490:
482:
481:
474:
460:
450:
444:
443:
432:
427:
415:
403:
391:
344:
318:genetic testing
314:
307:
304:
295:
292:
239:
186:
74:
17:
12:
11:
5:
2591:
2589:
2581:
2580:
2575:
2570:
2565:
2555:
2554:
2548:
2547:
2544:
2543:
2541:
2540:
2535:
2530:
2525:
2523:CHILD syndrome
2520:
2515:
2510:
2505:
2500:
2495:
2489:
2486:
2485:
2480:
2473:
2472:
2469:
2468:
2466:
2465:
2460:
2455:
2450:
2445:
2440:
2438:Barth syndrome
2434:
2432:
2428:
2427:
2425:
2424:
2418:
2416:
2406:
2405:
2403:
2402:
2397:
2395:Dent's disease
2392:
2386:
2384:
2378:
2377:
2375:
2374:
2369:
2364:
2359:
2349:
2347:
2341:
2340:
2338:
2337:
2332:
2327:
2322:
2316:
2314:
2307:
2306:
2304:
2303:
2298:
2293:
2284:
2283:
2278:
2276:Norrie disease
2273:
2263:
2258:Eye disorders:
2254:
2253:
2248:
2243:
2238:
2226:
2224:
2222:Nervous system
2218:
2217:
2215:
2214:
2208:Menkes disease
2198:
2197:
2185:
2184:
2172:
2171:
2159:
2158:
2153:
2148:
2136:
2135:
2123:
2122:
2117:
2105:
2103:
2097:
2096:
2094:
2093:
2088:
2083:
2073:
2071:
2065:
2064:
2062:
2061:
2056:
2051:
2045:
2043:
2037:
2036:
2034:
2033:
2028:
2023:
2018:
2013:
2008:
2003:
1998:
1992:
1990:
1984:
1983:
1978:
1971:
1970:
1964:
1962:
1961:
1954:
1947:
1939:
1930:
1929:
1927:
1926:
1921:
1916:
1911:
1906:
1900:
1898:
1894:
1893:
1891:
1890:
1885:
1875:
1874:
1869:
1864:
1859:
1849:
1847:
1836:
1835:
1832:
1831:
1828:
1827:
1825:
1816:
1811:
1806:
1801:
1796:
1791:
1789:
1788:
1787:
1774:Hyperammonemia
1763:
1756:
1755:
1752:
1751:
1748:
1747:
1745:
1744:
1738:
1732:
1730:
1728:Norepinephrine
1720:
1719:
1717:
1716:
1711:
1701:
1686:
1684:
1674:
1673:
1671:
1670:
1661:
1656:
1651:
1641:
1639:
1633:
1632:
1630:
1629:
1624:
1618:
1616:
1607:
1594:
1587:
1586:
1583:
1582:
1580:
1579:
1574:
1569:
1563:
1561:
1550:
1549:
1547:
1546:
1541:
1539:Homocystinuria
1536:
1530:
1528:
1522:
1521:
1519:
1518:
1513:
1508:
1502:
1500:
1494:
1493:
1491:
1490:
1485:
1480:
1478:Hypervalinemia
1474:
1472:
1463:
1451:
1450:
1447:
1446:
1444:
1443:
1437:
1435:
1425:
1424:
1422:
1421:
1416:
1410:
1408:
1402:
1401:
1399:
1398:
1393:
1388:
1382:
1380:
1371:
1359:
1358:
1355:
1354:
1352:
1351:
1346:
1332:
1331:
1326:
1321:
1315:
1313:
1304:
1290:
1284:
1283:
1280:
1279:
1277:
1276:
1270:
1268:
1262:
1261:
1259:
1258:
1253:
1248:
1243:
1238:
1232:
1230:
1224:
1223:
1221:
1220:
1215:
1210:
1208:Hyperlysinemia
1205:
1200:
1194:
1192:
1182:
1172:
1171:
1162:
1160:
1159:
1152:
1145:
1137:
1112:
1105:
1104:
1103:
1099:
1098:
1095:
1094:
1083:
1072:
1060:
1059:
1057:
1053:
1052:
1049:
1048:
1037:
1026:
1015:
1000:
984:
979:
978:
976:
975:Classification
968:
967:External links
965:
964:
963:
910:
907:
904:
903:
868:
854:
834:
820:
800:
757:Loi M (2006).
749:
724:
698:
669:
640:(2): 107–110.
620:
595:
567:
543:
500:
472:
463:|journal=
429:
428:
426:
423:
422:
421:
414:
411:
402:
399:
390:
387:
386:
385:
380:
375:
370:
364:
343:
340:
339:
338:
332:
327:
313:
310:
309:
308:
305:
298:
296:
293:
286:
238:
235:
192:in both eyes;
185:
182:
130:
129:
123:
119:
118:
112:
106:
105:
96:
92:
91:
88:
82:
81:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2590:
2579:
2576:
2574:
2571:
2569:
2566:
2564:
2561:
2560:
2558:
2539:
2536:
2534:
2531:
2529:
2526:
2524:
2521:
2519:
2518:Rett syndrome
2516:
2514:
2511:
2509:
2506:
2504:
2501:
2499:
2496:
2494:
2491:
2490:
2487:
2483:
2478:
2474:
2464:
2461:
2459:
2456:
2454:
2451:
2449:
2446:
2444:
2441:
2439:
2436:
2435:
2433:
2429:
2423:
2420:
2419:
2417:
2415:
2411:
2407:
2401:
2398:
2396:
2393:
2391:
2388:
2387:
2385:
2383:
2379:
2373:
2370:
2368:
2365:
2363:
2360:
2358:
2354:
2351:
2350:
2348:
2346:
2345:Neuromuscular
2342:
2336:
2333:
2331:
2328:
2326:
2323:
2321:
2318:
2317:
2315:
2312:
2308:
2302:
2299:
2297:
2294:
2292:
2289:
2286:
2285:
2282:
2281:Choroideremia
2279:
2277:
2274:
2271:
2267:
2264:
2262:
2259:
2256:
2255:
2252:
2249:
2247:
2244:
2242:
2241:MASA syndrome
2239:
2237:
2234:
2232:
2228:
2227:
2225:
2223:
2219:
2213:
2209:
2206:
2204:
2200:
2199:
2196:
2193:
2191:
2187:
2186:
2183:
2180:
2178:
2174:
2173:
2170:
2169:Fabry disease
2166:
2165:
2161:
2160:
2157:
2154:
2152:
2149:
2147:
2144:
2142:
2138:
2137:
2134:
2131:
2129:
2125:
2124:
2121:
2118:
2116:
2113:
2111:
2107:
2106:
2104:
2102:
2098:
2092:
2089:
2087:
2084:
2082:
2078:
2075:
2074:
2072:
2070:
2066:
2060:
2057:
2055:
2054:Haemophilia B
2052:
2050:
2049:Haemophilia A
2047:
2046:
2044:
2042:
2038:
2032:
2029:
2027:
2024:
2022:
2019:
2017:
2014:
2012:
2009:
2007:
2004:
2002:
1999:
1997:
1994:
1993:
1991:
1989:
1985:
1981:
1976:
1972:
1967:
1960:
1955:
1953:
1948:
1946:
1941:
1940:
1937:
1925:
1922:
1920:
1917:
1915:
1912:
1910:
1907:
1905:
1902:
1901:
1899:
1895:
1889:
1886:
1884:
1880:
1877:
1876:
1873:
1870:
1868:
1865:
1863:
1860:
1858:
1854:
1851:
1850:
1848:
1846:
1841:
1837:
1824:
1820:
1817:
1815:
1812:
1810:
1809:Citrullinemia
1807:
1805:
1802:
1800:
1797:
1795:
1792:
1790:
1785:
1782:
1781:
1780:
1775:
1771:
1767:
1764:
1762:
1757:
1743:
1739:
1737:
1734:
1733:
1731:
1729:
1725:
1721:
1715:
1712:
1709:
1705:
1702:
1699:
1695:
1691:
1688:
1687:
1685:
1683:
1679:
1675:
1669:
1668:Hawkinsinuria
1665:
1662:
1660:
1657:
1655:
1652:
1650:
1646:
1643:
1642:
1640:
1638:
1634:
1628:
1625:
1623:
1620:
1619:
1617:
1615:
1611:
1608:
1606:
1602:
1601:Phenylalanine
1598:
1595:
1593:
1588:
1578:
1575:
1573:
1570:
1568:
1565:
1564:
1562:
1560:
1556:
1551:
1545:
1542:
1540:
1537:
1535:
1532:
1531:
1529:
1527:
1523:
1517:
1514:
1512:
1509:
1507:
1504:
1503:
1501:
1499:
1495:
1489:
1486:
1484:
1481:
1479:
1476:
1475:
1473:
1471:
1467:
1464:
1462:
1457:
1456:propionyl-CoA
1452:
1442:
1439:
1438:
1436:
1434:
1430:
1426:
1420:
1417:
1415:
1412:
1411:
1409:
1407:
1403:
1397:
1394:
1392:
1389:
1387:
1384:
1383:
1381:
1379:
1375:
1372:
1370:
1365:
1360:
1350:
1347:
1345:
1341:
1337:
1334:
1333:
1330:
1327:
1325:
1322:
1320:
1317:
1316:
1314:
1312:
1308:
1305:
1303:
1299:
1294:
1291:
1289:
1285:
1275:
1272:
1271:
1269:
1267:
1263:
1257:
1254:
1252:
1249:
1247:
1244:
1242:
1239:
1237:
1234:
1233:
1231:
1229:
1225:
1219:
1216:
1214:
1211:
1209:
1206:
1204:
1201:
1199:
1196:
1195:
1193:
1190:
1186:
1183:
1181:
1177:
1173:
1169:
1165:
1158:
1153:
1151:
1146:
1144:
1139:
1138:
1135:
1127:
1126:
1125:
1119:
1115:
1093:
1089:
1088:
1084:
1082:
1081:Lowe Syndrome
1078:
1077:
1073:
1071:
1067:
1066:
1062:
1061:
1058:
1054:
1047:
1043:
1042:
1038:
1036:
1032:
1031:
1027:
1025:
1021:
1020:
1016:
1014:
1010:
1009:
1005:
1001:
999:
995:
994:
990:
986:
985:
982:
977:
973:
966:
960:
956:
951:
946:
942:
938:
934:
930:
926:
922:
918:
913:
912:
908:
899:
895:
891:
887:
884:(2): 164–84.
883:
879:
872:
869:
857:
855:9780195366457
851:
847:
846:
838:
835:
823:
821:9780313387142
817:
813:
812:
804:
801:
796:
792:
787:
782:
777:
772:
768:
764:
760:
753:
750:
738:
734:
728:
725:
713:
709:
702:
699:
687:
683:
676:
674:
670:
665:
661:
657:
653:
648:
643:
639:
635:
634:Small GTPases
631:
624:
621:
609:
605:
599:
596:
590:
586:
582:
578:
571:
568:
557:
553:
547:
544:
539:
533:
518:
517:www.orpha.net
514:
507:
505:
501:
489:
485:
479:
477:
473:
468:
455:
448:. 2016-06-01.
447:
441:
439:
437:
435:
431:
424:
420:
417:
416:
412:
410:
408:
400:
398:
396:
388:
384:
381:
379:
376:
374:
371:
368:
365:
362:
359:
358:
357:
352:
348:
341:
336:
333:
331:
328:
326:
323:
322:
321:
319:
311:
302:
297:
290:
285:
283:
281:
277:
273:
269:
265:
260:
258:
254:
250:
246:
245:
236:
234:
232:
228:
224:
220:
219:organic acids
216:
212:
208:
204:
200:
195:
191:
183:
181:
179:
175:
171:
167:
163:
162:aminoaciduria
159:
156:
152:
148:
144:
140:
139:Lowe syndrome
137:(also called
136:
128:
124:
120:
117:
113:
111:
107:
103:
102:
98:Mutations in
97:
93:
89:
87:
83:
78:
72:
71:endocrinology
68:
64:
60:
56:
53:
51:
47:
42:
38:
33:
30:Lowe syndrome
29:
25:
20:
2287:
2257:
2229:
2201:
2188:
2175:
2162:
2139:
2128:Dyslipidemia
2126:
2119:
2108:
1882:
1761:oxaloacetate
1645:Alkaptonuria
1461:succinyl-CoA
1391:Histidinemia
1386:Carnosinemia
1329:Sarcosinemia
1164:Inborn error
1122:
1121:
1120:profile for
1117:
1085:
1074:
1063:
1039:
1028:
1017:
1002:
987:
924:
920:
881:
877:
871:
859:. Retrieved
844:
837:
825:. Retrieved
810:
803:
766:
762:
752:
740:. Retrieved
736:
727:
715:. Retrieved
711:
701:
689:. Retrieved
685:
637:
633:
623:
611:. Retrieved
607:
598:
580:
570:
559:. Retrieved
555:
546:
520:. Retrieved
516:
491:. Retrieved
487:
454:cite journal
404:
392:
389:Epidemiology
378:Clomipramine
355:
315:
279:
261:
242:
240:
201:, including
187:
141:) is a rare
138:
134:
133:
127:clomipramine
99:
2041:Hematologic
1794:Argininemia
1637:Tyrosinemia
1076:GeneReviews
861:21 December
827:21 December
742:21 December
717:21 December
708:"OCRL gene"
691:21 December
613:21 December
593:update 2012
581:GeneReviews
522:21 December
493:21 December
294:Fibroblasts
274:and kidney
272:fibroblasts
231:L-carnitine
215:amino acids
203:bicarbonate
166:proteinuria
27:Other names
2557:Categories
2110:Amino acid
1888:Cystinosis
1857:Cystinuria
1770:Urea cycle
1649:Ochronosis
1526:Methionine
1498:Isoleucine
1266:Tryptophan
1180:acetyl-CoA
1041:DiseasesDB
561:2016-12-21
425:References
325:Urinalysis
116:urinalysis
2101:Metabolic
2069:Endocrine
1968:disorders
1845:IE of RTT
1840:Transport
1784:aspartate
1740:reverse:
1433:glutamine
1429:Glutamate
1378:Histidine
1364:glutamate
1065:eMedicine
941:0931-041X
656:2154-1256
342:Treatment
312:Diagnosis
255:-binding
211:potassium
190:cataracts
176:loss and
174:potassium
147:hypotonia
122:Treatment
90:Cataracts
63:neurology
50:Specialty
2382:Urologic
2357:Duchenne
1966:X-linked
1779:arginine
1724:Tyrosine
1690:Albinism
1678:Tyrosine
1605:tyrosine
1592:fumarate
1553:General
1340:Creatine
1298:pyruvate
1087:Orphanet
959:27011217
898:14884753
795:16722554
664:22790198
608:omim.org
589:20301653
532:cite web
413:See also
361:Glaucoma
237:Genetics
194:glaucoma
158:acidosis
143:X-linked
86:Symptoms
2203:Mineral
1682:Melanin
1406:Proline
1336:Glycine
1311:Glycine
1302:citrate
1228:Leucine
1114:Scholia
1070:oph/516
1035:D009800
950:5118406
786:1526415
488:Patient
401:History
369:feeding
276:tubular
270:cells,
266:of the
227:calcium
223:albumin
180:loss).
59:urology
2288:Other:
1988:Immune
1470:Valine
1441:SSADHD
1203:type 2
1189:Lysine
1116:has a
1024:309000
957:
947:
939:
896:
852:
818:
793:
783:
769:: 16.
662:
654:
587:
257:domain
207:sodium
178:sodium
95:Causes
73:
2414:tooth
2301:SMAX2
1897:Other
1118:topic
1046:29146
1013:270.8
998:E72.0
335:Blood
264:cilia
199:urine
114:MRI,
2410:Bone
2311:Skin
2251:PHF8
2021:IPEX
1030:MeSH
1019:OMIM
1008:9-CM
955:PMID
937:ISSN
894:PMID
863:2016
850:ISBN
829:2016
816:ISBN
791:PMID
744:2016
719:2016
693:2016
660:PMID
652:ISSN
615:2016
585:PMID
538:link
524:2016
495:2016
467:help
337:test
280:OCRL
244:OCRL
229:and
104:gene
101:OCRL
1166:of
1092:534
1004:ICD
989:ICD
945:PMC
929:doi
886:doi
781:PMC
771:doi
642:doi
330:MRI
253:Rab
2559::
2167::
1881::
1855::
1759:G→
1692::
1590:G→
1559:OA
1555:BC
1454:G→
1362:G→
1342::
1296:G→
1090::
1079::
1068::
1044::
1033::
1022::
1011::
996::
993:10
953:.
943:.
935:.
925:31
923:.
919:.
892:.
882:83
880:.
789:.
779:.
765:.
761:.
735:.
710:.
684:.
672:^
658:.
650:.
636:.
632:.
606:.
554:.
534:}}
530:{{
515:.
503:^
486:.
475:^
458::
456:}}
452:{{
433:^
259:.
225:,
221:,
217:,
213:,
209:,
205:,
160:,
153:,
149:,
69:,
65:,
61:,
57:,
2412:/
2355:/
2272:)
2270:1
2268:(
2233::
2210:/
2205::
2192::
2179::
2143::
2130::
2112::
2079:/
1958:e
1951:t
1944:v
1842:/
1821:/
1786:)
1777:(
1772:/
1726:→
1710:)
1706:(
1700:)
1698:1
1696:(
1680:→
1666:/
1647:/
1603:/
1557:/
1458:→
1431:/
1366:→
1338:→
1300:→
1288:G
1178:→
1176:K
1156:e
1149:t
1142:v
1128:.
1006:-
991:-
981:D
961:.
931::
900:.
888::
865:.
831:.
797:.
773::
767:1
746:.
721:.
695:.
666:.
644::
638:3
617:.
591:.
564:.
540:)
526:.
497:.
469:)
465:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
