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Lymphatic malformation 9(LMPHM9)

MedGen UID:
1779656
•Concept ID:
C5543365
•
Disease or Syndrome
Synonyms: LMPHM9; LYMPHATIC MALFORMATION 9
 
Gene (location): CELSR1 (22q13.31)
 
Monarch Initiative: MONDO:0030270
OMIM®: 619319

Definition

Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by Erickson et al., 2019). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Tortuous lymphatic vessels
MedGen UID:
1788937
•Concept ID:
C5543367
•
Anatomical Abnormality
The presence of an increased number of twists and turns of lymphatic vessels.
See: Feature record | Search on this feature
Predominantly lower limb lymphedema
MedGen UID:
320552
•Concept ID:
C1835228
•
Finding
Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.
Saibene AM, Rosso C, Felisati G, Pignataro L, Schindler A, Ghilardi G, Colletti G, Gaffuri M, Mozzanica F
Eur Arch Otorhinolaryngol 2023 Aug;280(8):3529-3540. Epub 2023 Apr 28 doi: 10.1007/s00405-023-07991-1. PMID: 37115326Free PMC Article
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar P, Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Strong N, Haeri S, Silver R, Vohra N, Hyett J, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Daly S, Hallingström M, MacPherson C, Kao C, Hakonarson H, Norton ME
Am J Obstet Gynecol 2022 Jul;227(1):79.e1-79.e11. Epub 2022 Jan 13 doi: 10.1016/j.ajog.2022.01.002. PMID: 35033576
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

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
Curettage and sclerotherapy technique: A hybrid approach to superficial lymphatic malformation.
Wang H, Zhou J, Lin W, Xie C, Yang W, Guo Z
Pediatr Dermatol 2023 Mar;40(2):265-269. Epub 2022 Nov 29 doi: 10.1111/pde.15202. PMID: 36444750
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
T cell immunodeficiency.
Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723
Gallbladder cancer.
Bartlett DL
Semin Surg Oncol 2000 Sep-Oct;19(2):145-55. doi: 10.1002/1098-2388(200009)19:2<145::aid-ssu7>3.0.co;2-6. PMID: 11126379

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
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, Głukowska A, Krysa T, Majchrzycki M, Olejnicki M, Ostrowska P, Babik J
Int J Mol Sci 2023 May 5;24(9) doi: 10.3390/ijms24098317. PMID: 37176024Free 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
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA
Rofo 2018 Sep;190(9):825-835. Epub 2018 Jun 6 doi: 10.1055/a-0620-8925. PMID: 29874693
Noonan syndrome.
Allanson JE
J Med Genet 1987 Jan;24(1):9-13. doi: 10.1136/jmg.24.1.9. PMID: 3543368Free PMC Article

Therapy

Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.
Saibene AM, Rosso C, Felisati G, Pignataro L, Schindler A, Ghilardi G, Colletti G, Gaffuri M, Mozzanica F
Eur Arch Otorhinolaryngol 2023 Aug;280(8):3529-3540. Epub 2023 Apr 28 doi: 10.1007/s00405-023-07991-1. PMID: 37115326Free 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
Head and neck lymphatic malformation treatment: a systematic review.
Adams MT, Saltzman B, Perkins JA
Otolaryngol Head Neck Surg 2012 Oct;147(4):627-39. Epub 2012 Jul 11 doi: 10.1177/0194599812453552. PMID: 22785242
T cell immunodeficiency.
Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723

Prognosis

Head and Neck Vascular Anomalies in Children.
Ruthberg JS, Susarla SM, Bly RA
Oral Maxillofac Surg Clin North Am 2024 Aug;36(3):355-368. Epub 2024 Apr 16 doi: 10.1016/j.coms.2024.03.002. PMID: 38632013
Intra-abdominal Cystic Lymphangiomas: The Vanderbilt Experience.
Mede A, Chotai PN, Huh WJ, Tan M
J Surg Res 2023 May;285:197-204. Epub 2023 Jan 23 doi: 10.1016/j.jss.2022.12.026. PMID: 36696706
Understanding the Pathobiology of Pulmonary Hypertension Due to Left Heart Disease.
Huston JH, Shah SJ
Circ Res 2022 Apr 29;130(9):1382-1403. Epub 2022 Apr 28 doi: 10.1161/CIRCRESAHA.122.319967. PMID: 35482841Free 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
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

Clinical prediction guides

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
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H
JCI Insight 2023 May 8;8(9) doi: 10.1172/jci.insight.155888. PMID: 37154160Free PMC Article
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
Curettage and sclerotherapy technique: A hybrid approach to superficial lymphatic malformation.
Wang H, Zhou J, Lin W, Xie C, Yang W, Guo Z
Pediatr Dermatol 2023 Mar;40(2):265-269. Epub 2022 Nov 29 doi: 10.1111/pde.15202. PMID: 36444750
The Role of the Lymphatic System in the Pathogenesis and Treatment of Inflammatory Bowel Disease.
Nikolakis D, de Voogd FAE, Pruijt MJ, Grootjans J, van de Sande MG, D'Haens GR
Int J Mol Sci 2022 Feb 6;23(3) doi: 10.3390/ijms23031854. PMID: 35163775Free PMC Article

Recent systematic reviews

Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.
Saibene AM, Rosso C, Felisati G, Pignataro L, Schindler A, Ghilardi G, Colletti G, Gaffuri M, Mozzanica F
Eur Arch Otorhinolaryngol 2023 Aug;280(8):3529-3540. Epub 2023 Apr 28 doi: 10.1007/s00405-023-07991-1. PMID: 37115326Free PMC Article
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754
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
Head and neck lymphatic malformation treatment: a systematic review.
Adams MT, Saltzman B, Perkins JA
Otolaryngol Head Neck Surg 2012 Oct;147(4):627-39. Epub 2012 Jul 11 doi: 10.1177/0194599812453552. PMID: 22785242

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