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Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

MedGen UID:
1799992
•Concept ID:
C5568569
•
Disease or Syndrome
Synonyms: Disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome; Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome; disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome; Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome; warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome; WILD (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome; WILD syndrome
SNOMED CT: WILD syndrome (1186725001); Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (1186725001); WILD (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome (1186725001); Disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome (1186725001)
 
Monarch Initiative: MONDO:0035473
Orphanet: ORPHA568056

Definition

A rare primary lymphedema characterized by extensive multisegmental lymphedema associated with persistent, widespread infections with various genital high and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWarts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

Professional guidelines

PubMed

Diagnosis and Treatment of Myelodysplastic Syndromes: A Review.
Sekeres MA, Taylor J
JAMA 2022 Sep 6;328(9):872-880. doi: 10.1001/jama.2022.14578. PMID: 36066514
Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management.
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management.
Garcia-Manero G, Chien KS, Montalban-Bravo G
Am J Hematol 2020 Nov;95(11):1399-1420. doi: 10.1002/ajh.25950. PMID: 32744763

Recent clinical studies

Etiology

Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article
Genetic short stature.
Grunauer M, Jorge AAL
Growth Horm IGF Res 2018 Feb;38:29-33. Epub 2017 Dec 6 doi: 10.1016/j.ghir.2017.12.003. PMID: 29249624
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Septo-optic dysplasia.
Sataite I, Cudlip S, Jayamohan J, Ganau M
Handb Clin Neurol 2021;181:51-64. doi: 10.1016/B978-0-12-820683-6.00005-1. PMID: 34238479
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB, Mirzaa GM
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):582-590. Epub 2019 Aug 23 doi: 10.1002/ajmg.c.31736. PMID: 31441589
Syndromes with supernumerary teeth.
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
Mazabraud syndrome.
Dreizin D, Glen C, Jose J
Am J Orthop (Belle Mead NJ) 2012 Jul;41(7):332-5. PMID: 22893885
Fibrous dysplasia.
Grabias SL, Campbell CJ
Orthop Clin North Am 1977 Oct;8(4):771-83. PMID: 917466

Therapy

Effect of Minimally Invasive Surfactant Therapy vs Sham Treatment on Death or Bronchopulmonary Dysplasia in Preterm Infants With Respiratory Distress Syndrome: The OPTIMIST-A Randomized Clinical Trial.
Dargaville PA, Kamlin COF, Orsini F, Wang X, De Paoli AG, Kanmaz Kutman HG, Cetinkaya M, Kornhauser-Cerar L, Derrick M, Özkan H, Hulzebos CV, Schmölzer GM, Aiyappan A, Lemyre B, Kuo S, Rajadurai VS, O'Shea J, Biniwale M, Ramanathan R, Kushnir A, Bader D, Thomas MR, Chakraborty M, Buksh MJ, Bhatia R, Sullivan CL, Shinwell ES, Dyson A, Barker DP, Kugelman A, Donovan TJ, Tauscher MK, Murthy V, Ali SKM, Yossuck P, Clark HW, Soll RF, Carlin JB, Davis PG; OPTIMIST-A Trial Investigators
JAMA 2021 Dec 28;326(24):2478-2487. doi: 10.1001/jama.2021.21892. PMID: 34902013Free PMC Article
Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.
Lee P, Yim R, Yung Y, Chu HT, Yip PK, Gill H
Int J Mol Sci 2021 Sep 23;22(19) doi: 10.3390/ijms221910232. PMID: 34638574Free PMC Article
Reactions Related to CAR-T Cell Therapy.
Miao L, Zhang Z, Ren Z, Li Y
Front Immunol 2021;12:663201. Epub 2021 Apr 28 doi: 10.3389/fimmu.2021.663201. PMID: 33995389Free PMC Article
Non-Invasive Ventilation in Neonatology.
Behnke J, Lemyre B, Czernik C, Zimmer KP, Ehrhardt H, Waitz M
Dtsch Arztebl Int 2019 Mar 8;116(11):177-183. doi: 10.3238/arztebl.2019.0177. PMID: 31014448Free PMC Article
MDS overlap disorders and diagnostic boundaries.
Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

Prognosis

Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Autoimmune manifestations associated with myelodysplastic syndromes.
Grignano E, Jachiet V, Fenaux P, Ades L, Fain O, Mekinian A
Ann Hematol 2018 Nov;97(11):2015-2023. Epub 2018 Aug 8 doi: 10.1007/s00277-018-3472-9. PMID: 30091023
Glenoid Dysplasia.
Abboud JA, Bateman DK, Barlow J
J Am Acad Orthop Surg 2016 May;24(5):327-36. doi: 10.5435/JAAOS-D-15-00032. PMID: 27055054
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Increased nuchal translucency with normal karyotype.
Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH
Am J Obstet Gynecol 2005 Apr;192(4):1005-21. doi: 10.1016/j.ajog.2004.12.093. PMID: 15846173

Clinical prediction guides

Lung Ultrasound Score Progress in Neonatal Respiratory Distress Syndrome.
Raimondi F, Migliaro F, Corsini I, Meneghin F, Dolce P, Pierri L, Perri A, Aversa S, Nobile S, Lama S, Varano S, Savoia M, Gatto S, Leonardi V, Capasso L, Carnielli VP, Mosca F, Dani C, Vento G, Lista G
Pediatrics 2021 Apr;147(4) Epub 2021 Mar 9 doi: 10.1542/peds.2020-030528. PMID: 33688032
Pain catastrophizing, anxiety, and depression in hip pathology.
Hampton SN, Nakonezny PA, Richard HM, Wells JE
Bone Joint J 2019 Jul;101-B(7):800-807. doi: 10.1302/0301-620X.101B7.BJJ-2018-1309.R1. PMID: 31256659
Trichoscopy in Hair Shaft Disorders.
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Congenital glenoid dysplasia.
Currarino G, Sheffield E, Twickler D
Pediatr Radiol 1998 Jan;28(1):30-7. doi: 10.1007/s002470050287. PMID: 9426270

Recent systematic reviews

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Selecting End Points for Disease-Modification Trials in Inflammatory Bowel Disease: the SPIRIT Consensus From the IOIBD.
Le Berre C, Peyrin-Biroulet L; SPIRIT-IOIBD study group
Gastroenterology 2021 Apr;160(5):1452-1460.e21. Epub 2021 Jan 6 doi: 10.1053/j.gastro.2020.10.065. PMID: 33421515
Continuous positive airway pressure (CPAP) for respiratory distress in preterm infants.
Ho JJ, Subramaniam P, Davis PG
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD002271. doi: 10.1002/14651858.CD002271.pub3. PMID: 33058208Free PMC Article
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Swaddling: a systematic review.
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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