62:
331:
292:
225:
gene. Over 500 cases have been reported to date. Development up to puberty is normal. Fat is then gradually lost in is the limbs and trunk. Fat may accumulate around the face and between the shoulder blades. Insulin resistance is common. Other conditions associated with this condition include
217:
Type 1 (Kobberling variety, FPL1) is very rare and has only been reported in women to date. Fat loss is confined to the limbs and mostly in the distal parts. Central obesity may be present. Complications include hypertension, insulin resistance and hypertriglyceridemia. The gene causing this
89:
As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.
595:
1892:
85:
FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.
565:
Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van
Haaften GW, Kalkhoven E (2018) A single complex Agpat2 allele in a patient With partial lipodystrophy. Front Physiol 9:1363. doi:
271:
gene. It is inherited in an autosomal recessive fashion and has been reported in only one patient to date. Features included fat loss, severe insulin resistance, fatty liver, acanthosis nigricans and diabetes.
256:
gene. It is rare with only a small number of cases reported. Fat loss tends to affect the lower limbs and buttocks. Insulin resistance and hypertriglyceridemia occur. Calf muscular hypertrophy may occur.
1885:
264:
gene. It has been reported in four patients all members of the same family. Fat loss affects the upper and lower limbs. The patients also had hypertension, insulin resistance and hypertriglyceridemia.
1572:
1878:
2805:
1846:
681:
1808:
943:
1208:
1405:
1341:
1291:
985:
2697:
2897:
1410:
823:
674:
1829:
1797:
2060:
2301:
2131:
2002:
1532:
756:
1522:
2492:
1992:
1514:
133:
667:
2024:
1813:
458:
433:
2464:
2783:
2373:
2095:
2076:
1997:
1605:
1482:
1430:
933:
2450:
722:
607:
2009:
978:
882:
1870:
1638:
2100:
1633:
783:
1552:
365:
This not known with certainty but is estimated to be about one per million. It appears to be more common in females than males.
2019:
1987:
1442:
2609:
1860:
1741:
1695:
1527:
2847:
2478:
1542:
1181:
892:
2871:
1690:
1659:
1610:
1487:
1457:
1361:
1311:
1281:
971:
2259:
1932:
1077:
2578:
2520:
2506:
1331:
1265:
902:
850:
379:
2080:
778:
2159:
1151:
1128:
1105:
1067:
1029:
2635:
2105:
1982:
1730:
1711:
1628:
2809:
2797:
2769:
2320:
2226:
2825:
2678:
2534:
2406:
2090:
897:
766:
231:
2630:
2085:
2715:
1792:
1787:
1685:
1509:
1260:
838:
788:
618:
249:
gene. It is rare with approximately 30 cases reported to date. It is similar to type 2 but tends to be milder.
1567:
1087:
475:
2392:
2240:
2014:
1824:
1766:
1371:
917:
737:
2801:
2625:
2667:
2573:
1978:
1477:
1435:
1034:
907:
833:
742:
727:
647:
399:
2673:
2345:
2287:
2273:
2110:
2039:
1224:
1082:
1039:
1736:
2841:
2813:
2692:
2651:
2359:
2245:
1905:
773:
227:
79:
61:
2306:
1198:
812:
761:
2902:
2387:
2184:
2115:
1705:
1381:
1351:
1321:
1301:
1270:
802:
798:
732:
214:
Six types (1-6) have been described. Types 1-5 are inherited in an autosomal dominant fashion.
2445:
2165:
1927:
1446:
1133:
1110:
1062:
1044:
717:
548:
497:
454:
429:
46:
2055:
1901:
1673:
828:
691:
538:
528:
487:
17:
268:
207:
2742:
2528:
2439:
1557:
1239:
1203:
1176:
948:
2198:
1948:
1754:
1251:
1072:
543:
516:
235:
221:
Type 2 (Dunnigan
Variety, FPL2) is the most common form and is due to mutations in the
330:
291:
2891:
2548:
2170:
1473:
1003:
864:
374:
55:
994:
699:
623:
1820:
1783:
1749:
1588:
1503:
1399:
1247:
1193:
1120:
1012:
659:
476:"Köbberling type of familial partial lipodystrophy: an underrecognized syndrome"
51:
2420:
1836:
1453:
1377:
1367:
1357:
1347:
1337:
1327:
1277:
492:
474:
Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A (June 2003).
2866:
1761:
1654:
1317:
1307:
1297:
1287:
1255:
1243:
1171:
517:"Clinical review#: Lipodystrophies: genetic and acquired body fat disorders"
552:
501:
177:
A mutations in a number of genes have been associated with this condition.
1681:
1097:
642:
533:
239:
178:
587:
1804:
1721:
1701:
1597:
1188:
963:
2661:
2656:
2281:
2267:
2212:
2192:
2029:
1620:
1426:
1054:
599:
276:
78:, is a rare genetic metabolic condition characterized by the loss of
218:
condition is not yet known. This form was first described in 1975.
2777:
2686:
2542:
2514:
2500:
2486:
2472:
2458:
2253:
2220:
1395:
1391:
1387:
1143:
1021:
253:
246:
201:
189:
155:
424:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
2791:
2763:
2567:
2414:
2400:
2381:
2367:
2353:
2339:
2314:
2295:
2234:
2206:
2178:
1841:
612:
261:
234:
in women. There is an increased risk of coronary heart disease.
222:
195:
183:
147:
139:
127:
114:
101:
1874:
967:
663:
325:
286:
275:
Another gene that has been associated with this condition is
1573:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
449:
James, William D.; Berger, Timothy G.; et al. (2006).
1847:
Microcephalic osteodysplastic primordial dwarfism type II
341:
302:
1809:
Epidermolysis bullosa simplex with muscular dystrophy
577:
2858:
2833:
2824:
2755:
2735:
2728:
2708:
2644:
2618:
2602:
2593:
2559:
2431:
2331:
2151:
2144:
2124:
2069:
2048:
1970:
1961:
1941:
1920:
1913:
1776:
1720:
1672:
1647:
1619:
1596:
1587:
1496:
1466:
1419:
1232:
1223:
1164:
1142:
1119:
1096:
1053:
1020:
1011:
1002:
926:
872:
863:
811:
707:
698:
633:
581:
451:
45:
37:
32:
2806:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
1209:Terminal osseous dysplasia with pigmentary defects
119:FPLD1 (Kobberling-type, loss from extremities)
1342:Meesmann juvenile epithelial corneal dystrophy
1292:Meesmann juvenile epithelial corneal dystrophy
2698:Yemenite deaf-blind hypopigmentation syndrome
1886:
979:
675:
8:
1830:Arrhythmogenic right ventricular dysplasia 9
1798:Arrhythmogenic right ventricular dysplasia 8
211:(cell-death-inducing DFFA-like effector B).
1411:Reticular pigmented anomaly of the flexures
824:Alpha-1 antitrypsin deficiency panniculitis
428:. St. Louis: Mosby. pp. 1541–2, 1543.
2830:
2732:
2599:
2148:
1967:
1917:
1893:
1879:
1871:
1593:
1229:
1017:
1008:
986:
972:
964:
944:Marfanoid–progeroid–lipodystrophy syndrome
869:
704:
682:
668:
660:
578:
400:"Orphanet: Familial partial lipodystrophy"
181:associated with FPL have been reported in
60:
29:
542:
532:
491:
238:and muscular dystrophy may occur rarely.
169:Type 1 is believed to be underdiagnosed.
2302:Posterior polymorphous corneal dystrophy
2132:Autoimmune polyendocrine syndrome type 1
1406:Naegeli–Franceschetti–Jadassohn syndrome
757:Subcutaneous fat necrosis of the newborn
230:, fatty liver, hypertriglyceridemia and
97:
2493:Anterior segment mesenchymal dysgenesis
391:
2025:X-linked adrenal hypoplasia congenita
1814:Epidermolysis bullosa simplex of Ogna
1083:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
7:
2077:Greig cephalopolysyndactyly syndrome
1431:Desmin-related myofibrillar myopathy
1068:Hypertrophic cardiomyopathy 1, 8, 10
934:Congenital generalized lipodystrophy
2451:Iridogoniodysgenesis, dominant type
1523:Emery–Dreifuss muscular dystrophy 2
2898:Conditions of the subcutaneous fat
1788:Striate palmoplantar keratoderma 2
1483:Charcot–Marie–Tooth disease 1F, 2E
1261:Striate palmoplantar keratoderma 3
883:Acquired generalized lipodystrophy
260:Type 5 is due to mutations in the
252:Type 4 is due to mutations in the
245:Type 3 is due to mutations in the
25:
1639:Asphyxiating thoracic dysplasia 3
1528:Limb-girdle muscular dystrophy 1B
199:(AKT serine/threonine kinase 2),
2465:Lymphedema–distichiasis syndrome
2061:Tricho–rhino–phalangeal syndrome
2035:Familial partial lipodystrophy 3
1634:Short rib-polydactyly syndrome 3
1611:Hereditary spastic paraplegia 10
1106:Hypertrophic cardiomyopathy 7, 2
784:Lupus erythematosus panniculitis
329:
290:
267:Type 6 due to mutations in the
2729:(0) Other transcription factors
2020:Estrogen insensitivity syndrome
1988:Androgen insensitivity syndrome
1533:Charcot–Marie–Tooth disease 2B1
2610:Hyperimmunoglobulin E syndrome
2015:PHA1AD pseudohypoaldosteronism
1742:Familial adenomatous polyposis
1696:Hereditary elliptocytosis 2, 3
1606:Charcot–Marie–Tooth disease 2A
1518:Familial partial lipodystrophy
1030:Hypertrophic cardiomyopathy 11
939:Familial partial lipodystrophy
893:Acquired partial lipodystrophy
72:Familial partial lipodystrophy
33:Familial partial lipodystrophy
1:
2872:Atrichia with papular lesions
1691:Hereditary spherocytosis 2, 3
1660:Cavernous venous malformation
1488:Amyotrophic lateral sclerosis
1458:Amyotrophic lateral sclerosis
1362:Epidermolysis bullosa simplex
1312:Epidermolysis bullosa simplex
1282:Ichthyosis bullosa of Siemens
1152:Hypertrophic cardiomyopathy 9
1129:Hypertrophic cardiomyopathy 3
136:, loss from limbs and trunk)
2579:Popliteal pterygium syndrome
2521:Enlarged vestibular aqueduct
2360:Waardenburg syndrome 1&3
2145:(3) Helix-turn-helix domains
1904:relating to deficiencies of
1332:Epidermolytic hyperkeratosis
1266:Epidermolytic hyperkeratosis
903:HIV-associated lipodystrophy
851:Superficial thrombophlebitis
380:List of cutaneous conditions
242:and nail changes may occur.
76:Köbberling–Dunnigan syndrome
18:Köbberling–Dunnigan syndrome
2679:Premature ovarian failure 7
2535:Premature ovarian failure 3
2407:Congenital hypothyroidism 2
1553:Buschke–Ollendorff syndrome
2919:
2826:Transcription coregulators
2596:with minor groove contacts
1983:Thyroid hormone resistance
1712:Hereditary spherocytosis 1
1629:Primary ciliary dyskinesia
1035:Dilated cardiomyopathy 1AA
521:J. Clin. Endocrinol. Metab
2848:Rubinstein–Taybi syndrome
2674:SRY XY gonadal dysgenesis
2479:Bamforth–Lazarus syndrome
2091:Duane-radial ray syndrome
2040:SF1 XY gonadal dysgenesis
1856:
1543:Barraquer–Simons syndrome
1436:Dilated cardiomyopathy 1I
1182:Weill–Marchesani syndrome
898:Centrifugal lipodystrophy
767:Post-steroid panniculitis
566:10.3389/fphys.2018.01363.
493:10.2337/diacare.26.6.1819
426:Dermatology: 2-Volume Set
232:polycystic ovary syndrome
2716:Cleidocranial dysostosis
1933:Saethre–Chotzen syndrome
1686:Spinocerebellar ataxia 5
1510:Mandibuloacral dysplasia
1078:Freeman–Sheldon syndrome
789:Sclerosing lipogranuloma
2693:Waardenburg syndrome 4c
2393:Coloboma of optic nerve
2241:Tooth and nail syndrome
2081:Pallister–Hall syndrome
1825:Skin fragility syndrome
1767:Giant axonal neuropathy
1372:Steatocystoma multiplex
918:Localized lipodystrophy
779:Weber–Christian disease
158:; 7q11.23-q21.11, 3p25
2636:Ulnar–mammary syndrome
2594:(4) β-Scaffold factors
2574:Van der Woude syndrome
2106:Townes–Brocks syndrome
1979:Intracellular receptor
1111:Nemaline myopathy 4, 5
908:Lipoatrophia annularis
723:Cytophagic histiocytic
338:This section is empty.
299:This section is empty.
2810:Limb–mammary syndrome
2798:Rapp–Hodgkin syndrome
2770:Pitt–Hopkins syndrome
2346:Papillorenal syndrome
2321:Mowat–Wilson syndrome
2227:Nail–patella syndrome
2111:Acrocallosal syndrome
1861:Cytoskeletal proteins
453:. Saunders Elsevier.
2652:Campomelic dysplasia
2631:Li–Fraumeni syndrome
2116:Myotonic dystrophy 2
2086:Denys–Drash syndrome
1906:transcription factor
774:Lipodermatosclerosis
752:needle-shaped clefts
534:10.1210/jc.2011-1159
228:acanthosis nigricans
2446:Axenfeld syndrome 3
2260:Axenfeld syndrome 1
2199:SPD1 synpolydactyly
1964:DNA-binding domains
1568:Pelger–Huet anomaly
1478:Parkinson's disease
1199:Boomerang dysplasia
1134:Nemaline myopathy 1
1088:May–Hegglin anomaly
1045:Nemaline myopathy 3
821:without vasculitis:
762:Sclerema neonatorum
714:without vasculitis
205:(perilipin-1), and
2802:Hay–Wells syndrome
2626:Holt–Oram syndrome
2388:Gillespie syndrome
2307:Fuchs' dystrophy 3
2185:Currarino syndrome
1737:Gardner's syndrome
1706:Long QT syndrome 4
1382:Familial cirrhosis
1352:White sponge nevus
1322:Familial cirrhosis
1302:White sponge nevus
803:Erythema induratum
799:Nodular vasculitis
634:External resources
2885:
2884:
2881:
2880:
2751:
2750:
2724:
2723:
2589:
2588:
2166:Ohtahara syndrome
2140:
2139:
2010:Kennedy's disease
1957:
1956:
1928:Feingold syndrome
1914:(1) Basic domains
1902:Genetic disorders
1868:
1867:
1793:Carvajal syndrome
1668:
1667:
1583:
1582:
1447:Alexander disease
1219:
1218:
1160:
1159:
1073:Usher syndrome 1B
1063:Elejalde syndrome
961:
960:
957:
956:
859:
858:
657:
656:
460:978-0-7216-2921-6
435:978-1-4160-2999-1
358:
357:
319:
318:
162:
161:
69:
68:
27:Medical condition
16:(Redirected from
2910:
2831:
2733:
2600:
2171:Lissencephaly X2
2149:
2056:Barakat syndrome
1968:
1918:
1895:
1888:
1881:
1872:
1859:Related topics:
1594:
1230:
1018:
1009:
988:
981:
974:
965:
870:
848:with vasculitis:
829:Erythema nodosum
796:with vasculitis:
705:
692:subcutaneous fat
684:
677:
670:
661:
579:
567:
563:
557:
556:
546:
536:
512:
506:
505:
495:
471:
465:
464:
446:
440:
439:
421:
415:
414:
412:
410:
396:
353:
350:
340:You can help by
333:
326:
314:
311:
301:You can help by
294:
287:
98:
80:subcutaneous fat
74:, also known as
65:
64:
30:
21:
2918:
2917:
2913:
2912:
2911:
2909:
2908:
2907:
2888:
2887:
2886:
2877:
2854:
2820:
2747:
2743:Kabuki syndrome
2720:
2704:
2640:
2614:
2595:
2585:
2555:
2427:
2327:
2136:
2120:
2065:
2044:
1963:
1962:(2) Zinc finger
1953:
1937:
1909:
1908:or coregulators
1899:
1869:
1864:
1852:
1772:
1716:
1664:
1643:
1615:
1579:
1558:Osteopoikilosis
1492:
1462:
1415:
1215:
1204:Larsen syndrome
1177:Marfan syndrome
1156:
1138:
1115:
1092:
1049:
998:
992:
962:
953:
949:Poland syndrome
922:
855:
807:
694:
688:
658:
653:
652:
629:
628:
590:
576:
571:
570:
564:
560:
527:(11): 3313–25.
515:Garg A (2011).
514:
513:
509:
473:
472:
468:
461:
448:
447:
443:
436:
423:
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285:
175:
167:
96:
59:
28:
23:
22:
15:
12:
11:
5:
2916:
2914:
2906:
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2900:
2890:
2889:
2883:
2882:
2879:
2878:
2876:
2875:
2862:
2860:
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2837:
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2828:
2822:
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2819:
2818:
2817:
2816:
2788:
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2786:
2774:
2773:
2772:
2759:
2757:
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2748:
2746:
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2737:
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2726:
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2722:
2721:
2719:
2718:
2712:
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2705:
2703:
2702:
2701:
2700:
2695:
2683:
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2681:
2676:
2664:
2659:
2654:
2648:
2646:
2642:
2641:
2639:
2638:
2633:
2628:
2622:
2620:
2616:
2615:
2613:
2612:
2606:
2604:
2597:
2591:
2590:
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2586:
2584:
2583:
2582:
2581:
2576:
2563:
2561:
2557:
2556:
2554:
2553:
2552:
2551:
2539:
2538:
2537:
2525:
2524:
2523:
2511:
2510:
2509:
2497:
2496:
2495:
2483:
2482:
2481:
2469:
2468:
2467:
2455:
2454:
2453:
2448:
2435:
2433:
2429:
2428:
2426:
2425:
2424:
2423:
2411:
2410:
2409:
2397:
2396:
2395:
2390:
2378:
2377:
2376:
2364:
2363:
2362:
2350:
2349:
2348:
2335:
2333:
2329:
2328:
2326:
2325:
2324:
2323:
2311:
2310:
2309:
2304:
2292:
2291:
2290:
2278:
2277:
2276:
2264:
2263:
2262:
2250:
2249:
2248:
2243:
2231:
2230:
2229:
2217:
2216:
2215:
2203:
2202:
2201:
2189:
2188:
2187:
2175:
2174:
2173:
2168:
2155:
2153:
2146:
2142:
2141:
2138:
2137:
2135:
2134:
2128:
2126:
2122:
2121:
2119:
2118:
2113:
2108:
2103:
2098:
2093:
2088:
2083:
2073:
2071:
2067:
2066:
2064:
2063:
2058:
2052:
2050:
2046:
2045:
2043:
2042:
2037:
2032:
2027:
2022:
2017:
2012:
2007:
2006:
2005:
2000:
1995:
1985:
1974:
1972:
1965:
1959:
1958:
1955:
1954:
1952:
1951:
1949:Tietz syndrome
1945:
1943:
1939:
1938:
1936:
1935:
1930:
1924:
1922:
1915:
1911:
1910:
1900:
1898:
1897:
1890:
1883:
1875:
1866:
1865:
1857:
1854:
1853:
1851:
1850:
1833:
1832:
1827:
1817:
1816:
1811:
1801:
1800:
1795:
1790:
1780:
1778:
1774:
1773:
1771:
1770:
1758:
1755:Naxos syndrome
1746:
1745:
1744:
1739:
1726:
1724:
1718:
1717:
1715:
1714:
1699:
1698:
1693:
1688:
1678:
1676:
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1669:
1666:
1665:
1663:
1662:
1657:
1651:
1649:
1645:
1644:
1642:
1641:
1636:
1631:
1625:
1623:
1617:
1616:
1614:
1613:
1608:
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1591:
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1417:
1416:
1414:
1413:
1408:
1403:
1385:
1375:
1365:
1355:
1345:
1335:
1325:
1315:
1305:
1295:
1285:
1275:
1274:
1273:
1268:
1263:
1252:hyperkeratosis
1236:
1234:
1227:
1221:
1220:
1217:
1216:
1214:
1213:
1212:
1211:
1206:
1201:
1196:
1186:
1185:
1184:
1179:
1168:
1166:
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1140:
1139:
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1125:
1123:
1117:
1116:
1114:
1113:
1108:
1102:
1100:
1094:
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1090:
1085:
1080:
1075:
1070:
1065:
1059:
1057:
1051:
1050:
1048:
1047:
1042:
1037:
1032:
1026:
1024:
1015:
1006:
1004:Microfilaments
1000:
999:
993:
991:
990:
983:
976:
968:
959:
958:
955:
954:
952:
951:
946:
941:
936:
930:
928:
924:
923:
921:
920:
911:
910:
905:
900:
895:
886:
885:
876:
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867:
861:
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857:
856:
854:
853:
844:
843:
842:
841:
836:
826:
817:
815:
809:
808:
806:
805:
792:
791:
786:
781:
776:
771:
770:
769:
764:
759:
748:
747:
746:
745:
740:
735:
730:
725:
720:
711:
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696:
695:
689:
687:
686:
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672:
664:
655:
654:
651:
650:
638:
637:
635:
631:
630:
627:
626:
615:
604:
591:
586:
585:
583:
582:Classification
575:
574:External links
572:
569:
568:
558:
507:
486:(6): 1819–24.
466:
459:
441:
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416:
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349:September 2017
336:
334:
323:
320:
317:
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310:September 2017
297:
295:
284:
281:
236:Cardiomyopathy
174:
171:
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2228:
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2197:
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2172:
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2059:
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2047:
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2038:
2036:
2033:
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2028:
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2023:
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2018:
2016:
2013:
2011:
2008:
2004:
2001:
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1996:
1994:
1991:
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1986:
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1980:
1976:
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1947:
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1926:
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1502:
1501:
1499:
1495:
1489:
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1484:
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1479:
1475:
1474:Neurofilament
1472:
1471:
1469:
1465:
1459:
1455:
1452:
1451:
1448:
1444:
1441:
1440:
1437:
1434:
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1428:
1425:
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1409:
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1397:
1393:
1389:
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1359:
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1286:
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1279:
1276:
1272:
1269:
1267:
1264:
1262:
1259:
1258:
1257:
1253:
1249:
1245:
1241:
1240:Keratinopathy
1238:
1237:
1235:
1231:
1228:
1226:
1222:
1210:
1207:
1205:
1202:
1200:
1197:
1195:
1194:FG syndrome 2
1192:
1191:
1190:
1187:
1183:
1180:
1178:
1175:
1174:
1173:
1170:
1169:
1167:
1163:
1153:
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1135:
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1016:
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1007:
1005:
1001:
996:
989:
984:
982:
977:
975:
970:
969:
966:
950:
947:
945:
942:
940:
937:
935:
932:
931:
929:
925:
919:
916:
913:
912:
909:
906:
904:
901:
899:
896:
894:
891:
888:
887:
884:
881:
878:
877:
875:
871:
868:
866:
865:Lipodystrophy
862:
852:
849:
846:
845:
840:
837:
835:
832:
831:
830:
827:
825:
822:
819:
818:
816:
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804:
800:
797:
794:
793:
790:
787:
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741:
739:
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731:
729:
726:
724:
721:
719:
716:
715:
713:
712:
710:
706:
703:
701:
697:
693:
690:Disorders of
685:
680:
678:
673:
671:
666:
665:
662:
649:
645:
644:
640:
639:
636:
632:
625:
621:
620:
616:
614:
610:
609:
605:
602:
601:
597:
593:
592:
589:
584:
580:
573:
562:
559:
554:
550:
545:
540:
535:
530:
526:
522:
518:
511:
508:
503:
499:
494:
489:
485:
481:
480:Diabetes Care
477:
470:
467:
462:
456:
452:
445:
442:
437:
431:
427:
420:
417:
405:
404:www.orpha.net
401:
395:
392:
385:
381:
378:
376:
375:Lipodystrophy
373:
372:
368:
366:
360:
352:
343:
339:
335:
332:
328:
327:
321:
313:
304:
300:
296:
293:
289:
288:
282:
280:
278:
273:
270:
265:
263:
258:
255:
250:
248:
243:
241:
237:
233:
229:
224:
219:
215:
212:
210:
209:
204:
203:
198:
197:
192:
191:
187:(lamin A/C),
186:
185:
180:
172:
170:
164:
157:
154:
151:
149:
146:
145:
141:
138:
135:
134:Dunnigan-type
131:
129:
126:
125:
121:
118:
116:
113:
112:
108:
105:
103:
100:
99:
93:
91:
87:
83:
81:
77:
73:
63:
57:
56:endocrinology
53:
50:
48:
44:
40:
36:
31:
19:
2865:
2859:Corepressor:
2840:
2834:Coactivator:
2790:
2776:
2762:
2685:
2666:
2566:
2541:
2527:
2513:
2499:
2485:
2471:
2457:
2438:
2413:
2399:
2380:
2366:
2352:
2338:
2313:
2294:
2280:
2266:
2252:
2233:
2219:
2205:
2191:
2177:
2158:
2034:
1858:
1840:
1760:
1748:
1729:
1700:
1589:Microtubules
1517:
995:Cytoskeletal
938:
914:
889:
880:generalized:
879:
847:
820:
795:
751:
700:Panniculitis
641:
617:
606:
594:
561:
524:
520:
510:
483:
479:
469:
450:
444:
425:
419:
407:. Retrieved
403:
394:
364:
346:
342:adding to it
337:
307:
303:adding to it
298:
274:
266:
259:
251:
244:
220:
216:
213:
206:
200:
194:
188:
182:
176:
168:
165:Presentation
88:
84:
75:
71:
70:
1821:plakophilin
1784:desmoplakin
1750:plakoglobin
1504:Laminopathy
1400:Monilethrix
1248:keratoderma
1121:Tropomyosin
1013:Myofilament
52:Dermatology
38:Other names
2892:Categories
1837:centrosome
1454:Peripherin
927:Congenital
915:localized:
738:Pancreatic
386:References
361:Prevalence
2903:Syndromes
2756:Ungrouped
1655:Tauopathy
1244:keratosis
1172:Fibrillin
743:Traumatic
728:Factitial
322:Treatment
283:Diagnosis
193:(PPARÎł),
179:Mutations
142:; 1q21.2
47:Specialty
1682:Spectrin
1674:Membrane
1515:Dunnigan
1098:Troponin
890:partial:
873:Acquired
643:Orphanet
553:21865368
502:12766116
409:27 April
369:See also
240:Xanthoma
173:Genetics
2507:ACD/MPV
1805:plectin
1722:Catenin
1702:Ankyrin
1598:Kinesin
1506:: LMNA
1189:Filamin
997:defects
839:Chronic
708:Lobular
624:D052496
603:: E88.1
544:7673254
132:FPLD2 (
2842:CREBBP
2662:MODY 5
2657:MODY 3
2421:STHAG3
2374:MODY 9
2282:POU3F4
2274:DFNA15
2268:POU4F3
2213:MODY 4
2193:HOXD13
2101:MRX 89
2096:MODY 7
2030:MODY 1
1621:Dynein
1549:LEMD3
1427:Desmin
1055:Myosin
1040:DFNA20
813:Septal
613:608600
551:
541:
500:
457:
432:
277:AGPAT2
152:FPLD3
148:604367
128:151660
115:608600
109:Locus
58:
2784:TNDM1
2778:ZFP57
2687:SOX10
2543:FOXP3
2529:FOXL2
2515:FOXI1
2501:FOXF1
2487:FOXE3
2473:FOXE1
2459:FOXC2
2440:FOXC1
2288:DFNX2
2254:PITX2
2221:LMX1B
1777:Other
1648:Other
1539:LMNB
1396:KRT86
1392:KRT83
1388:KRT81
1378:KRT18
1368:KRT17
1358:KRT14
1348:KRT13
1338:KRT12
1328:KRT10
1278:KRT2E
1165:Other
1144:Titin
1022:Actin
834:Acute
733:Gouty
648:98306
269:CIDEC
254:PLIN1
247:PPARG
208:CIDEC
202:PLIN1
190:PPARG
156:PPARG
106:Name
94:Types
2814:OFC8
2792:TP63
2764:TCF4
2709:4.11
2568:IRF6
2549:IPEX
2415:PAX9
2401:PAX8
2382:PAX6
2368:PAX4
2354:PAX3
2340:PAX2
2315:ZEB2
2296:ZEB1
2246:OFC5
2235:MSX1
2207:PDX1
2179:MNX1
2003:CAIS
1998:MAIS
1993:PAIS
1842:PCNT
1564:LBR
1443:GFAP
1318:KRT8
1308:KRT5
1298:KRT4
1288:KRT3
1271:IHCM
1256:KRT1
718:Cold
619:MeSH
608:OMIM
549:PMID
498:PMID
455:ISBN
430:ISBN
411:2019
262:AKT2
223:LMNA
196:AKT2
184:LMNA
140:LMNA
102:OMIM
41:FPLD
2736:0.6
2668:SF1
2645:4.7
2619:4.3
2603:4.2
2560:3.5
2432:3.3
2332:3.2
2160:ARX
2152:3.1
2125:2.5
2070:2.3
2049:2.2
1981:):
1971:2.1
1942:1.3
1921:1.2
1762:GAN
1731:APC
1254:):
1233:1/2
596:ICD
539:PMC
529:doi
488:doi
344:.
305:.
2894::
2867:HR
1839::
1823::
1807::
1786::
1704::
1684::
1476::
1456::
1445::
1429::
1250:,
1246:,
1225:IF
646::
622::
611::
600:10
547:.
537:.
525:96
523:.
519:.
496:.
484:26
482:.
478:.
402:.
279:.
122:?
82:.
54:,
2874:)
2870:(
2812:/
2808:/
2804:/
2800:/
2079:/
1977:(
1894:e
1887:t
1880:v
1849:)
1845:(
1769:)
1765:(
1757:)
1753:(
1497:5
1467:4
1420:3
1402:)
1398:(
1394:/
1390:/
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