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Lymphatic malformation 11(LMPHM11)

MedGen UID:
1784862
•Concept ID:
C5543614
•
Disease or Syndrome
Synonyms: LMPHM11; LYMPHATIC MALFORMATION 11
 
Gene (location): TIE1 (1p34.2)
 
Monarch Initiative: MONDO:0030316
OMIM®: 619401

Definition

Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations (Michelini et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from OMIM]

Clinical features

From HPO
Pedal edema
MedGen UID:
116085
•Concept ID:
C0239340
•
Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
See: Feature record | Search on this feature
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
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Professional guidelines

PubMed

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free 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

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
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
Vascular and lymphatic regulation of gastrointestinal function and disease risk.
Cifarelli V, Peche VS, Abumrad NA
Biochim Biophys Acta Mol Cell Biol Lipids 2022 Nov;1867(11):159207. Epub 2022 Jul 23 doi: 10.1016/j.bbalip.2022.159207. PMID: 35882297Free 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

Diagnosis

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free 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
Non-contrast MR lymphography of the lymphatic system of the liver.
Arrivé L, Monnier-Cholley L, Cazzagon N, Wendum D, Chambenois E, El Mouhadi S
Eur Radiol 2019 Nov;29(11):5879-5888. Epub 2019 Apr 1 doi: 10.1007/s00330-019-06151-6. PMID: 30937582
Current status, pitfalls and future directions in the diagnosis and therapy of lymphatic malformation.
Sun RW, Tuchin VV, Zharov VP, Galanzha EI, Richter GT
J Biophotonics 2018 Aug;11(8):e201700124. Epub 2017 Nov 5 doi: 10.1002/jbio.201700124. PMID: 28851128
Pediatric neck masses.
Goins MR, Beasley MS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):457-68. doi: 10.1016/j.coms.2012.05.006. PMID: 22857718

Therapy

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Wenger TL, Ganti S, Bull C, Lutsky E, Bennett JT, Zenner K, Jensen DM, Dmyterko V, Mercan E, Shivaram GM, Friedman SD, Bindschadler M, Drusin M, Perkins JN, Kong A, Bly RA, Dahl JP, Bonilla-Velez J, Perkins JA
Genet Med 2022 Nov;24(11):2318-2328. Epub 2022 Sep 6 doi: 10.1016/j.gim.2022.07.026. PMID: 36066547
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free 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
Potential biomarkers of kaposiform lymphangiomatosis.
Ozeki M, Nozawa A, Kawamoto N, Fujino A, Hirakawa S, Fukao T
Pediatr Blood Cancer 2019 Sep;66(9):e27878. Epub 2019 Jun 17 doi: 10.1002/pbc.27878. PMID: 31207041
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

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
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Potential biomarkers of kaposiform lymphangiomatosis.
Ozeki M, Nozawa A, Kawamoto N, Fujino A, Hirakawa S, Fukao T
Pediatr Blood Cancer 2019 Sep;66(9):e27878. Epub 2019 Jun 17 doi: 10.1002/pbc.27878. PMID: 31207041
Doxycycline sclerotherapy in children with head and neck lymphatic malformations.
Cheng J
J Pediatr Surg 2015 Dec;50(12):2143-6. Epub 2015 Sep 4 doi: 10.1016/j.jpedsurg.2015.08.051. PMID: 26421368
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

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
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Intussusceptive Lymphangiogenesis in Lymphatic Malformations/Lymphangiomas.
Díaz-Flores L, Gutiérrez R, García MDP, Carrasco JL, Sáez FJ, Díaz-Flores L Jr, González-Gómez M, Madrid JF
Anat Rec (Hoboken) 2019 Nov;302(11):2003-2013. Epub 2019 Jul 8 doi: 10.1002/ar.24204. PMID: 31228317
Non-contrast MR lymphography of the lymphatic system of the liver.
Arrivé L, Monnier-Cholley L, Cazzagon N, Wendum D, Chambenois E, El Mouhadi S
Eur Radiol 2019 Nov;29(11):5879-5888. Epub 2019 Apr 1 doi: 10.1007/s00330-019-06151-6. PMID: 30937582

Recent systematic reviews

Sirolimus for Pediatric Cervicofacial Lymphatic Malformation: A Systematic Review and Meta-Analysis.
Kamhieh Y, Mitra R, Burnett T, Jones H, Roblin G, Hall A
Laryngoscope 2024 May;134(5):2038-2047. Epub 2023 Oct 9 doi: 10.1002/lary.31091. PMID: 37812168
Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis.
Provenzani U, Damiani S, Bersano I, Singh S, Moschillo A, Accinni T, Brondino N, Oliver D, Fusar-Poli P
Int Rev Psychiatry 2022 Nov-Dec;34(7-8):676-688. Epub 2022 Sep 14 doi: 10.1080/09540261.2022.2123273. PMID: 36786112
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
Doxycycline sclerotherapy in children with head and neck lymphatic malformations.
Cheng J
J Pediatr Surg 2015 Dec;50(12):2143-6. Epub 2015 Sep 4 doi: 10.1016/j.jpedsurg.2015.08.051. PMID: 26421368
Carbon dioxide laser for the treatment of microcystic lymphatic malformations (lymphangioma circumscriptum): a systematic review.
Savas JA, Ledon J, Franca K, Chacon A, Zaiac M, Nouri K
Dermatol Surg 2013 Aug;39(8):1147-57. Epub 2013 Apr 22 doi: 10.1111/dsu.12220. PMID: 23607875

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