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Lymphatic malformation 10(LMPHM10)

MedGen UID:
1780452
Concept ID:
C5543531
Disease or Syndrome
Synonyms: LMPHM10; LYMPHATIC MALFORMATION 10
 
Gene (location): ANGPT2 (8p23.1)
 
Monarch Initiative: MONDO:0023662
OMIM®: 619369

Definition

Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.

Professional guidelines

PubMed

Norman JS, Testa S, Wang CX, Savage T
Dig Dis Sci 2023 Oct;68(10):3872-3877. Epub 2023 Aug 27 doi: 10.1007/s10620-023-08077-y. PMID: 37634185
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Asian J Surg 2022 Oct;45(10):1910-1911. Epub 2022 Apr 13 doi: 10.1016/j.asjsur.2022.03.135. PMID: 35430156
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

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
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
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Park CK, Webb WR, Klein JS
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Diagnosis

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Wadhwa V, Pua BB, Kadenhe-Chiweshe AV, Rosenblatt SD
J Oral Pathol Med 2022 Nov;51(10):844-848. Epub 2022 Mar 22 doi: 10.1111/jop.13287. PMID: 35188293
Hopkins SE, Chadehumbe M, Blaine Crowley T, Zackai EH, Bilaniuk LT, McDonald-McGinn DM
Am J Med Genet A 2018 Oct;176(10):2140-2145. Epub 2018 Oct 26 doi: 10.1002/ajmg.a.38614. PMID: 30365873
Garabédian M
Genet Couns 1999;10(4):389-94. PMID: 10631928
Park CK, Webb WR, Klein JS
Radiology 1991 Jan;178(1):163-8. doi: 10.1148/radiology.178.1.1984297. PMID: 1984297

Therapy

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Léauté-Labrèze C
J Oral Pathol Med 2022 Nov;51(10):837-843. Epub 2022 Aug 4 doi: 10.1111/jop.13324. PMID: 35668029Free PMC Article
Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
Adams DM, Brandão LR, Peterman CM, Gupta A, Patel M, Fishman S, Trenor CC
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Jul 20 doi: 10.1002/pbc.26716. PMID: 28727248
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

Prognosis

Ozeki M, Hori T, Kanda K, Kawamoto N, Ibuka T, Miyazaki T, Fukao T
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Garabédian M
Genet Couns 1999;10(4):389-94. PMID: 10631928
Savaşan S, Warrier I, Ravindranath Y
Arch Dis Child 1997 Sep;77(3):245-8. doi: 10.1136/adc.77.3.245. PMID: 9370906Free PMC Article
Tio LT, Blank LE, Wijers OB, den Hartog Jager FC, Van Dijk JD, Tytgat GN
Gastrointest Endosc 1994 May-Jun;40(3):304-10. doi: 10.1016/s0016-5107(94)70061-3. PMID: 8056233

Clinical prediction guides

Tepper Á, Cuiza A, Alliende LM, Mena C, Ramirez-Mahaluf JP, Iruretagoyena B, Ornstein C, Fritsch R, Nachar R, González-Valderrama A, Undurraga J, Cruz JP, Tejos C, Fornito A, Repetto G, Crossley N
Schizophr Bull 2022 Mar 1;48(2):485-494. doi: 10.1093/schbul/sbab139. PMID: 34931688Free PMC Article
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
Waseem H, Welch M
Emerg Med J 2017 Oct;34(10):676-679. doi: 10.1136/emermed-2016-205919. PMID: 28963377
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM
Am J Med Genet A 2017 Jan;173(1):135-142. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37980. PMID: 27682988
Brouillard P, Vikkula M
Clin Genet 2003 May;63(5):340-51. doi: 10.1034/j.1399-0004.2003.00092.x. PMID: 12752563

Recent systematic reviews

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
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
Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
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
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

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