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Lymphatic malformation 14(LMPHM14)

MedGen UID:
1851480
•Concept ID:
C5882718
•
Congenital Abnormality
Synonym: LMPHM14
 
Gene (location): ERG (21q22.2)
 
Monarch Initiative: MONDO:0957954
OMIM®: 620602

Definition

Lymphatic malformation-14 (LMPHM14) is an autosomal dominant disorder characterized by primary lymphedema (Greene et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from OMIM]

Clinical features

From HPO
Lymphedema
MedGen UID:
6155
•Concept ID:
C0024236
•
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
AGA Clinical Practice Update on Endoscopic Treatment of Barrett's Esophagus With Dysplasia and/or Early Cancer: Expert Review.
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766
Normalization of the vasculature for treatment of cancer and other diseases.
Goel S, Duda DG, Xu L, Munn LL, Boucher Y, Fukumura D, Jain RK
Physiol Rev 2011 Jul;91(3):1071-121. doi: 10.1152/physrev.00038.2010. PMID: 21742796Free PMC Article

Recent clinical studies

Etiology

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.
Pinto E, Dori Y, Smith C, DeWitt A, Williams C, Griffis H, Escobar F, Biko DM, Krishnamurthy G, Rome J, Glatz AC, Liu M, Ravishankar C, Zhang H, Taha D
J Perinatol 2021 Mar;41(3):494-501. Epub 2020 Sep 2 doi: 10.1038/s41372-020-00771-3. PMID: 32879418
AGA Clinical Practice Update on Endoscopic Treatment of Barrett's Esophagus With Dysplasia and/or Early Cancer: Expert Review.
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766
Clinical Analysis of Intraperitoneal Lymphangioma.
Li Q, Ji D, Tu KS, Dou CW, Yao YM
Chin Med J (Engl) 2015 Nov 20;128(22):3043-9. doi: 10.4103/0366-6999.169061. PMID: 26608984Free PMC Article
Verrucous hemangioma revisited.
Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP
Pediatr Dermatol 2006 May-Jun;23(3):208-15. doi: 10.1111/j.1525-1470.2006.00219.x. PMID: 16780464

Diagnosis

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.
Pinto E, Dori Y, Smith C, DeWitt A, Williams C, Griffis H, Escobar F, Biko DM, Krishnamurthy G, Rome J, Glatz AC, Liu M, Ravishankar C, Zhang H, Taha D
J Perinatol 2021 Mar;41(3):494-501. Epub 2020 Sep 2 doi: 10.1038/s41372-020-00771-3. PMID: 32879418
Tubal flushing for subfertility.
Wang R, Watson A, Johnson N, Cheung K, Fitzgerald C, Mol BWJ, Mohiyiddeen L
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD003718. doi: 10.1002/14651858.CD003718.pub5. PMID: 33053612Free PMC Article
AGA Clinical Practice Update on Endoscopic Treatment of Barrett's Esophagus With Dysplasia and/or Early Cancer: Expert Review.
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766
Verrucous hemangioma revisited.
Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP
Pediatr Dermatol 2006 May-Jun;23(3):208-15. doi: 10.1111/j.1525-1470.2006.00219.x. PMID: 16780464

Therapy

Tubal flushing for subfertility.
Wang R, Watson A, Johnson N, Cheung K, Fitzgerald C, Mol BWJ, Mohiyiddeen L
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD003718. doi: 10.1002/14651858.CD003718.pub5. PMID: 33053612Free PMC Article
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
AGA Clinical Practice Update on Endoscopic Treatment of Barrett's Esophagus With Dysplasia and/or Early Cancer: Expert Review.
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766
Normalization of the vasculature for treatment of cancer and other diseases.
Goel S, Duda DG, Xu L, Munn LL, Boucher Y, Fukumura D, Jain RK
Physiol Rev 2011 Jul;91(3):1071-121. doi: 10.1152/physrev.00038.2010. PMID: 21742796Free PMC Article
Periorbital lymphatic malformation: clinical course and management in 42 patients.
Greene AK, Burrows PE, Smith L, Mulliken JB
Plast Reconstr Surg 2005 Jan;115(1):22-30. PMID: 15622227

Prognosis

Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.
Pinto E, Dori Y, Smith C, DeWitt A, Williams C, Griffis H, Escobar F, Biko DM, Krishnamurthy G, Rome J, Glatz AC, Liu M, Ravishankar C, Zhang H, Taha D
J Perinatol 2021 Mar;41(3):494-501. Epub 2020 Sep 2 doi: 10.1038/s41372-020-00771-3. PMID: 32879418
Diagnosis of Lymphangiomatosis: A Study Based on CT Lymphangiography.
Jin D, Sun X, Shen W, Zhao Q, Wang R
Acad Radiol 2020 Feb;27(2):219-226. Epub 2019 May 7 doi: 10.1016/j.acra.2019.03.024. PMID: 31076330
Periorbital lymphatic malformation: clinical course and management in 42 patients.
Greene AK, Burrows PE, Smith L, Mulliken JB
Plast Reconstr Surg 2005 Jan;115(1):22-30. PMID: 15622227
Pediatric vascular lesions.
Van Aalst JA, Bhuller A, Sadove AM
J Craniofac Surg 2003 Jul;14(4):566-83. doi: 10.1097/00001665-200307000-00032. PMID: 12867875
Prenatal diagnosis of the 22q11.2 deletion syndrome.
Driscoll DA
Genet Med 2001 Jan-Feb;3(1):14-8. doi: 10.1097/00125817-200101000-00004. PMID: 11339370

Clinical prediction guides

Efficiency and clinical results of bleomycin injection in the treatment of lymphatic malformations.
Siki FO, Sarikaya M, Gunduz M, Sekmenli T, Koksal Y, Ciftci I
Niger J Clin Pract 2023 Aug;26(8):1165-1170. doi: 10.4103/njcp.njcp_99_23. PMID: 37635612
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.
Rössler J, Baselga E, Davila V, Celis V, Diociaiuti A, El Hachem M, Mestre S, Haeberli D, Prokop A, Hanke C, Loichinger W, Quéré I, Baumgartner I, Niemeyer CM, Kapp FG
Pediatr Blood Cancer 2021 Aug;68(8):e28936. Epub 2021 Feb 13 doi: 10.1002/pbc.28936. PMID: 33580918
Association of Lymphatic Abnormalities with Early Complications after Fontan Operation.
Dittrich S, Weise A, Cesnjevar R, Rompel O, Rüffer A, Schöber M, Moosmann J, Glöckler M
Thorac Cardiovasc Surg 2021 Dec;69(S 03):e1-e9. Epub 2020 Dec 31 doi: 10.1055/s-0040-1722178. PMID: 33383591Free PMC Article
Tubal flushing for subfertility.
Wang R, Watson A, Johnson N, Cheung K, Fitzgerald C, Mol BWJ, Mohiyiddeen L
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD003718. doi: 10.1002/14651858.CD003718.pub5. PMID: 33053612Free PMC Article
Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591

Recent systematic reviews

Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M
Front Endocrinol (Lausanne) 2023;14:1213098. Epub 2023 Jul 28 doi: 10.3389/fendo.2023.1213098. PMID: 37576960Free PMC Article
Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.
Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J
Int J Pediatr Otorhinolaryngol 2022 Dec;163:111373. Epub 2022 Nov 2 doi: 10.1016/j.ijporl.2022.111373. PMID: 36335759
Surgical Treatment of Peripheral Vascular Malformations: A Systematic Review and Meta-Analysis.
Lokhorst MM, Jolink F, Horbach SER, Spuls PI, van der Horst CMAM
Plast Reconstr Surg 2021 May 1;147(5):1149-1161. doi: 10.1097/PRS.0000000000007837. PMID: 33890897
Tubal flushing for subfertility.
Wang R, Watson A, Johnson N, Cheung K, Fitzgerald C, Mol BWJ, Mohiyiddeen L
Cochrane Database Syst Rev 2020 Oct 15;10(10):CD003718. doi: 10.1002/14651858.CD003718.pub5. PMID: 33053612Free PMC Article
Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.
D'Antonio F, Khalil A, Zidere V, Carvalho JS
Ultrasound Obstet Gynecol 2016 Apr;47(4):423-32. Epub 2016 Mar 16 doi: 10.1002/uog.15805. PMID: 26643657

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