| H00557 | |
| H number | H00557 |
| Name | Cutis laxa |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EE41.0 ICD-10: Q82.8 MeSH: D003483 OMIM: 123700 614434 616603 219100 614437 613177 219200 612940 617402 219150 614438 617403 619451 |
| Reference | PMID:19401719 AUTHORS Morava E, Guillard M, Lefeber DJ, Wevers RA TITLE Autosomal recessive cutis laxa syndrome revisited. JOURNAL Eur J Hum Genet 17:1099-110 (2009) DOI:10.1038/ejhg.2009.22 PMID:16780467 AUTHORS Gupta N, Phadke SR TITLE Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. JOURNAL Pediatr Dermatol 23:225-30 (2006) DOI:10.1111/j.1525-1470.2006.00222.x PMID:21309044 (ELN) AUTHORS 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 TITLE New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. JOURNAL Hum Mutat 32:445-55 (2011) DOI:10.1002/humu.21462 PMID:12618961 (FBLN5) AUTHORS Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML TITLE Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. JOURNAL Am J Hum Genet 72:998-1004 (2003) DOI:10.1086/373940 PMID:21739576 (ALDH18A1) AUTHORS 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 TITLE Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). JOURNAL Am J Med Genet A 155A:1848-56 (2011) DOI:10.1002/ajmg.a.34057 PMID:16685658 (EFEMP2) AUTHORS Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z TITLE Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. JOURNAL Am J Hum Genet 78:1075-80 (2006) DOI:10.1086/504304 PMID:19836010 (LTBP4) AUTHORS 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 TITLE Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. JOURNAL Am J Hum Genet 85:593-605 (2009) DOI:10.1016/j.ajhg.2009.09.013 PMID:18157129 (ATP6V0A2) AUTHORS 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 TITLE Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. JOURNAL Nat Genet 40:32-4 (2008) DOI:10.1038/ng.2007.45 PMID:19648921 (PYCR1) AUTHORS 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 TITLE Mutations in PYCR1 cause cutis laxa with progeroid features. JOURNAL Nat Genet 41:1016-21 (2009) DOI:10.1038/ng.413 PMID:28065471 (ATP6V1E1 ATP6V1A) AUTHORS 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 TITLE Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. JOURNAL Am J Hum Genet 100:216-227 (2017) DOI:10.1016/j.ajhg.2016.12.010 PMID:33991472 (LTBP1) AUTHORS 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 TITLE Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. JOURNAL Am J Hum Genet 108:1095-1114 (2021) DOI:10.1016/j.ajhg.2021.04.016 |