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Lymphatic malformation 9(LMPHM9)

MedGen UID:: 1779656
•Concept ID:: C5543365
•: Disease or Syndrome

Synonyms:	LMPHM9; LYMPHATIC MALFORMATION 9

Gene (location): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of metabolism/homeostasis
- Predominantly lower limb lymphedema
Abnormality of the immune system
- Tortuous lymphatic vessels

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: 37115326 Free 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

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

See all (74)

Recent clinical studies

Etiology

Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.

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

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

See all (469)

Diagnosis

Clinical phenotype of adolescent and adult patients with extracranial vascular malformation.

Tuleja A, Bernhard S, Hamvas G, Andreoti TA, Rössler J, Boon L, Vikkula M, Kammer R, Haupt F, Döring Y, Baumgartner I
J Vasc Surg Venous Lymphat Disord 2023 Sep;11(5):1034-1044.e3. Epub 2023 Apr 6 doi: 10.1016/j.jvsv.2023.03.012. PMID: 37030445

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

French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations.

Leboulanger N, Bisdorff A, Boccara O, Dompmartin A, Guibaud L, Labreze C, Lagier J, Lebrun-Vignes B, Herbreteau D, Joly A, Malloizel-Delaunay J, Martel A, Munck S, Saint-Aubin F, Maruani A
Orphanet J Rare Dis 2023 Jan 13;18(1):10. doi: 10.1186/s13023-022-02608-y. PMID: 36639640 Free 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

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Therapy

Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.

Sclerotherapy with polidocanol microfoam in head and neck venous and lymphatic malformations.

De Corso E, Cina A, Salonna G, Di Cintio G, Gaudino S, Panfili M, Colosimo C, Paludetti G
Acta Otorhinolaryngol Ital 2022 Apr;42(2):116-125. Epub 2021 Jul 23 doi: 10.14639/0392-100X-N1310. PMID: 34297013 Free 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

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

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

See all (168)

Prognosis

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

Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.

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

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

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

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Clinical prediction guides

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: 37154160 Free PMC Article

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.

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: 35163775 Free PMC Article

Sclerotherapy with polidocanol microfoam in head and neck venous and lymphatic malformations.

See all (263)