| H00557 | |
| H番号 | H00557 |
| 名称 | 皮膚弛緩症 |
| 概要 | Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive cutis laxa III, also known as De Barsy syndrome, is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, and intrauterine growth retardation. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (ADCL1) ELN [HSA:2006] [KO:K14211] (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340] (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657] (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866] (ARCL1C) LTBP4 [HSA:8425] [KO:K08023] (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154] (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286] (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150] (ARCL2D) ATP6V1A [HSA:523] [KO:K02145] (ARCL2E) LTBP1 [HSA:4052] [KO:K19559] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EE41.0 ICD-10: Q82.8 MeSH: D003483 OMIM: 123700 614434 616603 219100 614437 613177 219200 612940 617402 219150 614438 617403 619451 |
| 文献 | PMID:19401719 著者 Morava E, Guillard M, Lefeber DJ, Wevers RA タイトル Autosomal recessive cutis laxa syndrome revisited. 雑誌 Eur J Hum Genet 17:1099-110 (2009) DOI:10.1038/ejhg.2009.22 PMID:16780467 著者 Gupta N, Phadke SR タイトル Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. 雑誌 Pediatr Dermatol 23:225-30 (2006) DOI:10.1111/j.1525-1470.2006.00222.x PMID:21309044 (ELN) 著者 Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z タイトル New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 雑誌 Hum Mutat 32:445-55 (2011) DOI:10.1002/humu.21462 PMID:12618961 (FBLN5) 著者 Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML タイトル Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. 雑誌 Am J Hum Genet 72:998-1004 (2003) DOI:10.1086/373940 PMID:21739576 (ALDH18A1) 著者 Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP タイトル Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). 雑誌 Am J Med Genet A 155A:1848-56 (2011) DOI:10.1002/ajmg.a.34057 PMID:16685658 (EFEMP2) 著者 Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z タイトル Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 雑誌 Am J Hum Genet 78:1075-80 (2006) DOI:10.1086/504304 PMID:19836010 (LTBP4) 著者 Urban Z, Hucthagowder V, Schurmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC タイトル Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 雑誌 Am J Hum Genet 85:593-605 (2009) DOI:10.1016/j.ajhg.2009.09.013 PMID:18157129 (ATP6V0A2) 著者 Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S タイトル Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 雑誌 Nat Genet 40:32-4 (2008) DOI:10.1038/ng.2007.45 PMID:19648921 (PYCR1) 著者 Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U タイトル Mutations in PYCR1 cause cutis laxa with progeroid features. 雑誌 Nat Genet 41:1016-21 (2009) DOI:10.1038/ng.413 PMID:28065471 (ATP6V1E1 ATP6V1A) 著者 Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA タイトル Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. 雑誌 Am J Hum Genet 100:216-227 (2017) DOI:10.1016/j.ajhg.2016.12.010 PMID:33991472 (LTBP1) 著者 Pottie L, Adamo CS, Beyens A, Lutke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B タイトル Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. 雑誌 Am J Hum Genet 108:1095-1114 (2021) DOI:10.1016/j.ajhg.2021.04.016 |