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Lymphatic malformation 13(LMPHM13)

MedGen UID:
1840915
Concept ID:
C5830279
Disease or Syndrome
Synonyms: HYDROPS FETALIS, NONIMMUNE, WITH CARDIAC DEFECTS AND HEMANGIOMAS; LMPHM13
 
Gene (location): THSD1 (13q14.3)
 
Monarch Initiative: MONDO:0859379
OMIM®: 620244

Definition

Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Cavernous hemangioma
MedGen UID:
9184
Concept ID:
C0018920
Neoplastic Process
The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
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.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Unilateral deafness
MedGen UID:
435850
Concept ID:
C2607947
Disease or Syndrome
A unilateral absence of sensory perception of sound.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Single umbilical artery
MedGen UID:
278026
Concept ID:
C1384670
Congenital Abnormality
Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
Fetal pleural effusion
MedGen UID:
759277
Concept ID:
C3532164
Pathologic Function
Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.
Fetal pericardial effusion
MedGen UID:
759278
Concept ID:
C3532165
Pathologic Function
An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Retinopathy of prematurity
MedGen UID:
48438
Concept ID:
C0035344
Disease or Syndrome
An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.

Professional guidelines

PubMed

Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
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
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

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: 34297013Free PMC Article
Prat D, Gomel N, Zloto O, Anne M, BenSaid A, Bhattacharjee K, Yassur I, Sagiv O, Ben Simon GJ
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Puccia R, Staricha K, Carlberg VM, Moe D, Chun R
Int J Pediatr Otorhinolaryngol 2020 Nov;138:110388. Epub 2020 Sep 17 doi: 10.1016/j.ijporl.2020.110388. PMID: 33152979
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
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article

Diagnosis

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
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262
Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
Prat D, Gomel N, Zloto O, Anne M, BenSaid A, Bhattacharjee K, Yassur I, Sagiv O, Ben Simon GJ
Ophthalmic Plast Reconstr Surg 2021 Jul-Aug 01;37(4):361-365. doi: 10.1097/IOP.0000000000001870. PMID: 33156144
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

Therapy

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: 34297013Free PMC Article
Prat D, Gomel N, Zloto O, Anne M, BenSaid A, Bhattacharjee K, Yassur I, Sagiv O, Ben Simon GJ
Ophthalmic Plast Reconstr Surg 2021 Jul-Aug 01;37(4):361-365. doi: 10.1097/IOP.0000000000001870. PMID: 33156144
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
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article
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

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
Bonilla-Velez J, Whitlock KB, Ganti S, Shivaram GM, Bly RA, Dahl JP, Manning SC, Perkins JA
Laryngoscope 2023 Apr;133(4):956-962. Epub 2022 Jun 3 doi: 10.1002/lary.30237. PMID: 35657104
Rasmussen JC, Zhu B, Morrow JR, Aldrich MB, Sahihi A, Harlin SA, Fife CE, O'Donnell TF Jr, Sevick-Muraca EM
J Vasc Surg Venous Lymphat Disord 2021 May;9(3):720-730.e2. Epub 2020 Sep 22 doi: 10.1016/j.jvsv.2020.09.007. PMID: 32977070Free PMC Article
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article
Greene AK, Burrows PE, Smith L, Mulliken JB
Plast Reconstr Surg 2005 Jan;115(1):22-30. PMID: 15622227

Clinical prediction guides

Bonilla-Velez J, Whitlock KB, Ganti S, Shivaram GM, Bly RA, Dahl JP, Manning SC, Perkins JA
Laryngoscope 2023 Apr;133(4):956-962. Epub 2022 Jun 3 doi: 10.1002/lary.30237. PMID: 35657104
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: 34297013Free PMC Article
Fiksinski AM, Schneider M, Zinkstok J, Baribeau D, Chawner SJRA, Vorstman JAS
Curr Psychiatry Rep 2021 Feb 24;23(3):13. doi: 10.1007/s11920-021-01225-z. PMID: 33625600Free PMC Article
Rasmussen JC, Zhu B, Morrow JR, Aldrich MB, Sahihi A, Harlin SA, Fife CE, O'Donnell TF Jr, Sevick-Muraca EM
J Vasc Surg Venous Lymphat Disord 2021 May;9(3):720-730.e2. Epub 2020 Sep 22 doi: 10.1016/j.jvsv.2020.09.007. PMID: 32977070Free PMC Article
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article

Recent systematic reviews

Teng JMC, Hammill A, Martini J, Treat J
Lymphat Res Biol 2023 Apr;21(2):101-110. Epub 2022 Jul 18 doi: 10.1089/lrb.2021.0103. PMID: 35852876
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262
Mastromoro G, Calcagni G, Vignaroli W, Anaclerio S, Pugnaloni F, Rinelli G, Secinaro A, Bordonaro V, Putotto C, Unolt M, Digilio MC, Marino B, Versacci P
Am J Med Genet A 2022 Aug;188(8):2351-2359. Epub 2022 May 2 doi: 10.1002/ajmg.a.62763. PMID: 35491976
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
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

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