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Lymphatic malformation 3(LMPHM3)

MedGen UID:
1652857
•Concept ID:
C4747646
•
Disease or Syndrome
Synonyms: LMPHM3; Lymphedema, hereditary, IC
 
Gene (location): GJC2 (1q42.13)
 
Monarch Initiative: MONDO:0013278
OMIM®: 613480

Definition

Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Cellulitis
MedGen UID:
40174
•Concept ID:
C0007642
•
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
See: Feature record | Search on this feature
Recurrent skin infections
MedGen UID:
377848
•Concept ID:
C1853193
•
Disease or Syndrome
Infections of the skin that happen multiple times.
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

Use of octreotide for the treatment of protein-losing enteropathy in dogs: Retrospective study of 18 cases.
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
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
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

Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.
Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ
Cell Stem Cell 2024 Mar 7;31(3):421-432.e8. Epub 2024 Feb 20 doi: 10.1016/j.stem.2024.01.010. PMID: 38382530Free PMC Article
Neurological manifestation of 22q11.2 deletion syndrome.
Bayat M, Bayat A
Neurol Sci 2022 Mar;43(3):1695-1700. Epub 2022 Jan 18 doi: 10.1007/s10072-021-05825-8. PMID: 35039989
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Nonmalignant Adult Thoracic Lymphatic Disorders.
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
Velocardiofacial syndrome.
Gothelf D
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):677-93. doi: 10.1016/j.chc.2007.03.005. PMID: 17562586

Diagnosis

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Cillo F, Coppola E, Habetswallner F, Cecere F, Pignata L, Toriello E, De Rosa A, Grilli L, Ammendola A, Salerno P, Romano R, Cirillo E, Merla G, Riccio A, Pignata C, Giardino G
Genes (Basel) 2024 Feb 29;15(3) doi: 10.3390/genes15030321. PMID: 38540380Free PMC Article
Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma.
Hoang VT, Nguyen MD, Van HAT, Hoang DT
Jpn J Radiol 2023 Mar;41(3):283-301. Epub 2022 Nov 3 doi: 10.1007/s11604-022-01356-0. PMID: 36327088
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Intraabdominal Lymphatic Malformations: Pearls and Pitfalls of Diagnosis and Differential Diagnoses in Pediatric Patients.
Francavilla ML, White CL, Oliveri B, Lee EY, Restrepo R
AJR Am J Roentgenol 2017 Mar;208(3):637-649. Epub 2016 Dec 22 doi: 10.2214/AJR.16.17008. PMID: 28004970
Vascular anomalies in pediatrics.
Fevurly RD, Fishman SJ
Surg Clin North Am 2012 Jun;92(3):769-800, x. Epub 2012 Apr 26 doi: 10.1016/j.suc.2012.03.016. PMID: 22595720

Therapy

Genetic Basis and Therapies for Vascular Anomalies.
Queisser A, Seront E, Boon LM, Vikkula M
Circ Res 2021 Jun 25;129(1):155-173. Epub 2021 Jun 24 doi: 10.1161/CIRCRESAHA.121.318145. PMID: 34166070
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Plastic Bronchitis.
Rubin BK
Clin Chest Med 2016 Sep;37(3):405-8. Epub 2016 Jun 15 doi: 10.1016/j.ccm.2016.04.003. PMID: 27514587
Thymus transplantation.
Markert ML, Devlin BH, McCarthy EA
Clin Immunol 2010 May;135(2):236-46. Epub 2010 Mar 16 doi: 10.1016/j.clim.2010.02.007. PMID: 20236866Free PMC Article
Taxane-induced scleroderma.
Itoh M, Yanaba K, Kobayashi T, Nakagawa H
Br J Dermatol 2007 Feb;156(2):363-7. doi: 10.1111/j.1365-2133.2006.07597.x. PMID: 17223879

Prognosis

Vascular anomalies in pediatrics.
Fevurly RD, Fishman SJ
Surg Clin North Am 2012 Jun;92(3):769-800, x. Epub 2012 Apr 26 doi: 10.1016/j.suc.2012.03.016. PMID: 22595720
Vascular malformations: Part I.
Garzon MC, Huang JT, Enjolras O, Frieden IJ
J Am Acad Dermatol 2007 Mar;56(3):353-70; quiz 371-4. doi: 10.1016/j.jaad.2006.05.069. PMID: 17317485
Taxane-induced scleroderma.
Itoh M, Yanaba K, Kobayashi T, Nakagawa H
Br J Dermatol 2007 Feb;156(2):363-7. doi: 10.1111/j.1365-2133.2006.07597.x. PMID: 17223879
Combined immune deficiencies in children.
Kobrynski LJ
J Infus Nurs 2006 Jul-Aug;29(4):206-13. doi: 10.1097/00129804-200607000-00007. PMID: 16858253
Prenatal diagnosis of the 22q11.2 deletion syndrome.
Driscoll DA
Genet Med 2001 Jan-Feb;3(1):14-8. doi: 10.1097/00125817-200101000-00004. PMID: 11339370

Clinical prediction guides

Transcriptional linkage analysis with in vivo AAV-Perturb-seq.
Santinha AJ, Klingler E, Kuhn M, Farouni R, Lagler S, Kalamakis G, Lischetti U, Jabaudon D, Platt RJ
Nature 2023 Oct;622(7982):367-375. Epub 2023 Sep 20 doi: 10.1038/s41586-023-06570-y. PMID: 37730998Free PMC Article
The Subtlety of 22q11.2 Deletion Syndrome in a Preterm Neonate.
Cline L, Aranda P, Jnah A
Neonatal Netw 2023 Jun 1;42(3):137-144. doi: 10.1891/NN-2022-0023. PMID: 37258294
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
Primary lymphangiectasia of the gastrointestinal tract.
Esedov EM, Abasova AS, Akhmedova FD, Musaeva LN
Ter Arkh 2018 Apr 19;90(3):96-98. doi: 10.26442/terarkh201890396-98. PMID: 30701863
Social phenotypes in neurogenetic syndromes.
Feinstein C, Singh S
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):631-47. doi: 10.1016/j.chc.2007.03.006. PMID: 17562583

Recent systematic reviews

Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.
Duckett KA, Poupore NS, Carroll WW, Pecha PP
Laryngoscope 2024 Jun;134(6):2551-2561. Epub 2023 Dec 5 doi: 10.1002/lary.31181. PMID: 38050953Free PMC Article
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
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
Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis.
De Maria L, De Sanctis P, Balakrishnan K, Tollefson M, Brinjikji W
J Vasc Surg Venous Lymphat Disord 2020 Jan;8(1):154-164. Epub 2019 Nov 14 doi: 10.1016/j.jvsv.2019.09.007. PMID: 31734224
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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