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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

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

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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Recent clinical studies

Etiology

NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.

Michelini S, Ricci M, Serrani R, Barati S, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Basha SH, Priya S, Dautaj A, Dundar M, Krajcovic J, Bertelli M
Mol Genet Genomic Med 2021 Jan;9(1):e1529. Epub 2020 Nov 28 doi: 10.1002/mgg3.1529. PMID: 33247628 Free 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

Vascular anomalies: classification, diagnosis, and natural history.

Marler JJ, Mulliken JB
Facial Plast Surg Clin North Am 2001 Nov;9(4):495-504. PMID: 17590938

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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Diagnosis

Immunodeficiency in 22q11.2 duplication syndrome.

Sun D, Lee J, Heimall J, Jyonouchi S
J Allergy Clin Immunol Pract 2021 Feb;9(2):996-998.e3. Epub 2020 Sep 16 doi: 10.1016/j.jaip.2020.09.005. PMID: 32949807

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

T cell immunodeficiency.

Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723

Noonan syndrome.

Allanson JE
J Med Genet 1987 Jan;24(1):9-13. doi: 10.1136/jmg.24.1.9. PMID: 3543368 Free PMC Article

Medico-dental dilemmas.

Sutherland KJ
Aust Dent J 1976 Feb;21(1):9-14. doi: 10.1111/j.1834-7819.1976.tb04411.x. PMID: 1065282

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Therapy

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: 33053612 Free PMC Article

A rare case of tympanostomy tube otorrhea: Pigmentiphaga.

Rubin SJ, Lawlor CM, Lee GS
Int J Pediatr Otorhinolaryngol 2020 Sep;136:110165. Epub 2020 Jun 4 doi: 10.1016/j.ijporl.2020.110165. PMID: 32570062

Bleomycin electrosclerotherapy: new treatment to manage vascular malformations.

McMorrow L, Shaikh M, Kessell G, Muir T
Br J Oral Maxillofac Surg 2017 Nov;55(9):977-979. Epub 2017 Oct 18 doi: 10.1016/j.bjoms.2017.10.002. PMID: 29055573

T cell immunodeficiency.

Edgar JD
J Clin Pathol 2008 Sep;61(9):988-93. doi: 10.1136/jcp.2007.051144. PMID: 18755723

Coincidence of seminoma and sarcoidosis: a myth or fact?

Tjan-Heijnen VC, Vlasveld LT, Pernet FP, Pauwels P, De Mulder PH
Ann Oncol 1998 Mar;9(3):321-5. doi: 10.1023/a:1008220002148. PMID: 9602267

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Prognosis

High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification.

Hammer C, Pierson S, Acevedo A, Goldberg J, Westover T, Chawla D, Mabey B, Muzzey D, Johansen Taber K
Prenat Diagn 2024 Jul;44(8):925-935. Epub 2024 Apr 15 doi: 10.1002/pd.6562. PMID: 38622914

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: 32842603 Free PMC Article

Lymphatic malformations compromising the upper airway in children: ultrasound-guided intralesional focal sclerotherapy with bleomycin targeting culprit lesions.

Usui H, Shinkai M, Kitagawa N, Mochizuki K, Kawakita I, Tsuzuki Y, Shinohara S, Yagi Y, Masuda M
Pediatr Surg Int 2020 Sep;36(9):1047-1054. Epub 2020 Jul 13 doi: 10.1007/s00383-020-04715-y. PMID: 32661596

Long-Term Follow-Up of Lymphatic Malformations in Children Treated with Sildenafil.

Tu JH, Tafoya E, Jeng M, Teng JM
Pediatr Dermatol 2017 Sep;34(5):559-565. doi: 10.1111/pde.13237. PMID: 28884903

Management of congenital anomalies of the neck.

Enepekides DJ
Facial Plast Surg Clin North Am 2001 Feb;9(1):131-45. PMID: 11465000

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Clinical prediction guides

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 Free PMC Article

NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.

Lymphatic malformations compromising the upper airway in children: ultrasound-guided intralesional focal sclerotherapy with bleomycin targeting culprit lesions.

Exacerbation of primary intestinal lymphangiectasia during late pregnancy and recovery after delivery: A case report and literature review.

Lu J, Zhai H
Medicine (Baltimore) 2017 Sep;96(35):e7928. doi: 10.1097/MD.0000000000007928. PMID: 28858117 Free PMC Article

Cytogenetic evaluation of 20 primary breast carcinomas.

Cavalli LR, Cavaliéri LM, Ribeiro LA, Cavalli IJ, Silveira R, Rogatto SR
Hereditas 1997;126(3):261-8. doi: 10.1111/j.1601-5223.1997.00261.x. PMID: 9350140

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