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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

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
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
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
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

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
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
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
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

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
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
Benign epithelial inclusions in axillary lymph nodes: report of 18 cases and review of the literature.
Fellegara G, Carcangiu ML, Rosai J
Am J Surg Pathol 2011 Aug;35(8):1123-33. doi: 10.1097/PAS.0b013e3182237985. PMID: 21753696

Clinical prediction guides

A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.
Funato N, Heliövaara A, Boeckx C
Am J Hum Genet 2024 May 2;111(5):939-953. Epub 2024 Apr 11 doi: 10.1016/j.ajhg.2024.03.012. PMID: 38608674Free PMC Article
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
Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.
Heung T, Conroy B, Malecki S, Ha J, Boot E, Corral M, Bassett AS
Genes (Basel) 2022 Nov 5;13(11) doi: 10.3390/genes13112038. PMID: 36360275Free PMC Article
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

Recent systematic reviews

Fetal Cystic Lymphatic Malformations: Systematic Review on Pregnancy and Neonatal Outcomes.
Nzelu D, Panayotidis I, Smith GD, Pandya P
J Ultrasound Med 2024 Dec;43(12):2327-2337. Epub 2024 Sep 9 doi: 10.1002/jum.16566. PMID: 39248487
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
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
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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