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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

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
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
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

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.
O'Hora KP, Kushan-Wells L, Schleifer CH, Cruz S, Hoftman GD, Jalbrzikowski M, Gur RE, Gur RC, Bearden CE
Autism Res 2023 Dec;16(12):2247-2262. Epub 2023 Nov 23 doi: 10.1002/aur.3049. PMID: 37997544Free PMC Article
Vascular anomalies - a practical approach.
Theiler M, Wälchli R, Weibel L
J Dtsch Dermatol Ges 2013 May;11(5):397-405. Epub 2013 Mar 6 doi: 10.1111/ddg.12046. PMID: 23464752
Infantile hypertrophic pyloric stenosis--genetics and syndromes.
Peeters B, Benninga MA, Hennekam RC
Nat Rev Gastroenterol Hepatol 2012 Nov;9(11):646-60. Epub 2012 Jul 10 doi: 10.1038/nrgastro.2012.133. PMID: 22777173
T cell immunodeficiency.
Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723
Facial infiltrative lipomatosis.
Haloi AK, Ditchfield M, Penington A, Phillips R
Pediatr Radiol 2006 Nov;36(11):1159-62. Epub 2006 Sep 5 doi: 10.1007/s00247-006-0291-2. PMID: 16953375

Diagnosis

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP
Int J Med Sci 2023;20(11):1377-1385. Epub 2023 Sep 4 doi: 10.7150/ijms.86773. PMID: 37790845Free PMC Article
CHARGE syndrome: a review of the immunological aspects.
Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM
Eur J Hum Genet 2015 Nov;23(11):1451-9. Epub 2015 Feb 18 doi: 10.1038/ejhg.2015.7. PMID: 25689927Free PMC Article
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM
Am J Med Genet A 2014 Nov;164A(11):2707-23. Epub 2014 Aug 14 doi: 10.1002/ajmg.a.36711. PMID: 25123976
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
T cell immunodeficiency.
Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723

Therapy

Treatment With Topical Sirolimus for Recurrent Lymphatic Malformation of the External Urethral Meatus.
Yonekura S, Komori T, Ishida Y, Kogame T, Kabashima K
JAMA Dermatol 2022 Nov 1;158(11):1331-1332. doi: 10.1001/jamadermatol.2022.2793. PMID: 36044195
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
Caution is recommended prior to sildenafil use in vascular anomalies.
Rankin H, Zwicker K, Trenor CC 3rd
Pediatr Blood Cancer 2015 Nov;62(11):2015-7. Epub 2015 May 15 doi: 10.1002/pbc.25600. PMID: 25982365
T cell immunodeficiency.
Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723
Animal models for human craniofacial malformations.
Johnston MC, Bronsky PT
J Craniofac Genet Dev Biol 1991 Oct-Dec;11(4):277-91. PMID: 1812129

Prognosis

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome.
Palmer LD, McManus Z, Heung T, McAlpine G, Blagojevic C, Corral M, Bassett AS
Genes (Basel) 2022 Nov 16;13(11) doi: 10.3390/genes13112126. PMID: 36421801Free PMC Article
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.
Karbarz M
Genes (Basel) 2020 Aug 22;11(9) doi: 10.3390/genes11090977. PMID: 32842603Free PMC Article
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
Mediastinal venolymphatic malformations mimicking thymic carcinoma.
Kang MK, Kang DK, Hwang YH, Kim JY
Thorac Cancer 2020 Jan;11(1):170-172. Epub 2019 Nov 19 doi: 10.1111/1759-7714.13239. PMID: 31742877Free PMC Article
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.
Barclay SF, Inman KW, Luks VL, McIntyre JB, Al-Ibraheemi A, Church AJ, Perez-Atayde AR, Mangray S, Jeng M, Kreimer SR, Walker L, Fishman SJ, Alomari AI, Chaudry G, Trenor Iii CC, Adams D, Kozakewich HPW, Kurek KC
Genet Med 2019 Jul;21(7):1517-1524. Epub 2018 Dec 13 doi: 10.1038/s41436-018-0390-0. PMID: 30542204Free PMC Article

Clinical prediction guides

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.
O'Hora KP, Kushan-Wells L, Schleifer CH, Cruz S, Hoftman GD, Jalbrzikowski M, Gur RE, Gur RC, Bearden CE
Autism Res 2023 Dec;16(12):2247-2262. Epub 2023 Nov 23 doi: 10.1002/aur.3049. PMID: 37997544Free PMC Article
Similar grey matter abnormalities in 22q11.2DS and chronic schizophrenia: a voxel-based morphometry study.
Frascarelli M, Accinni T, Buzzanca A, Di Bonaventura C, Fanella M, Putotto C, Marino B, Pasquini M, Biondi M, Colonnese C, Di Fabio F
Riv Psichiatr 2023 Jan-Feb;58(1):10-20. doi: 10.1708/3964.39426. PMID: 36715578
Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome.
Palmer LD, McManus Z, Heung T, McAlpine G, Blagojevic C, Corral M, Bassett AS
Genes (Basel) 2022 Nov 16;13(11) doi: 10.3390/genes13112126. PMID: 36421801Free PMC Article
A genetic model for multimorbidity in young adults.
Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral M, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS
Genet Med 2020 Jan;22(1):132-141. Epub 2019 Jul 31 doi: 10.1038/s41436-019-0603-1. PMID: 31363180
Otologic and audiologic findings in 22q11.2 deletion syndrome.
Verheij E, Kist AL, Mink van der Molen AB, Stegeman I, van Zanten GA, Grolman W, Thomeer HG
Eur Arch Otorhinolaryngol 2017 Feb;274(2):765-771. Epub 2016 Nov 11 doi: 10.1007/s00405-016-4365-y. PMID: 27837421Free PMC Article

Recent systematic reviews

Sclerotherapy vs. surgical excision for lymphatic malformations of the head and neck: a systematic review and meta-analysis.
Alqutub A, Baamir NJ, Mofti Z, Zawawi F, Al-Khatib T
Eur Arch Otorhinolaryngol 2024 Nov;281(11):5571-5617. Epub 2024 Jul 1 doi: 10.1007/s00405-024-08793-9. PMID: 38951201
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
Parietal cell/oncocytic gastric carcinoma: systematic review and first-time assessment of HER2 status in two new cases.
Mavroeidis VK, Gkegkes ID, Saffioti F, Kandilaris K, Alexiou K, Horti M, Economou N, Demonakou M
Ann R Coll Surg Engl 2020 Apr;102(4):300-307. Epub 2020 Jan 13 doi: 10.1308/rcsann.2019.0183. PMID: 31928359Free PMC Article
Surgical Outcomes in Syndromic Tetralogy of Fallot: A Systematic Review and Evidence Quality Assessment.
Athanasiadis DI, Mylonas KS, Kasparian K, Ziogas IA, Vlachopoulou D, Sfyridis PG, Schizas D, Spartalis E, Nikiteas N, Hemmati P, Kalangos A, Avgerinos DV
Pediatr Cardiol 2019 Aug;40(6):1105-1112. Epub 2019 Jun 18 doi: 10.1007/s00246-019-02133-z. PMID: 31214731
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

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