LM
MCID: RRL003
MIFTS: 31

Rare Lymphatic Malformation (LM)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Rare Lymphatic Malformation

MalaCards integrated aliases for Rare Lymphatic Malformation:

Name: Rare Lymphatic Malformation 58
Lymphangioma 58
Lm 58

Characteristics:

Orphanet epidemiological data:

58
rare lymphatic malformation
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 D18.1
UMLS via Orphanet 72 C0024221 C0398368
Orphanet 58 ORPHA2415

Summaries for Rare Lymphatic Malformation

MalaCards based summary : Rare Lymphatic Malformation, also known as lymphangioma, is related to lymphangioma and cystic lymphangioma. The drugs Picibanil and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include tongue, pancreas and spleen.

Related Diseases for Rare Lymphatic Malformation

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7 Lymphatic Malformation 8

Diseases related to Rare Lymphatic Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 400)
# Related Disease Score Top Affiliating Genes
1 lymphangioma 11.8
2 cystic lymphangioma 11.6
3 capillary lymphangioma 11.6
4 abdominal cystic lymphangioma 11.5
5 nuchal bleb, familial 11.2
6 cavernous lymphangioma 11.2
7 colonic lymphangioma 11.2
8 diffuse lymphatic malformation 11.1
9 orbital lymphangioma 11.1
10 lymphangiomatosis 11.0
11 mixed cystic lymphatic malformation 11.0
12 hygroma cervical 10.9
13 primary laryngeal lymphangioma 10.9
14 cobb syndrome 10.9
15 infantile myofibromatosis 10.9
16 hemangioma 10.6
17 exophthalmos 10.4
18 lymphangiectasis 10.4
19 intestinal obstruction 10.4
20 kaposi sarcoma 10.4
21 rare tumor 10.4
22 volvulus of midgut 10.3
23 macroglossia 10.3
24 sarcoma 10.3
25 spindle cell sarcoma 10.3
26 cavernous hemangioma 10.3
27 anogenital venereal wart 10.3
28 appendicitis 10.3
29 intussusception 10.3
30 dysphagia 10.2
31 peritonitis 10.2
32 angiosarcoma 10.1
33 ptosis 10.1
34 klippel-trenaunay-weber syndrome 10.1
35 benign mesothelioma 10.1
36 teratoma 10.1
37 ovarian cyst 10.1
38 hydrocele 10.1
39 splenomegaly 10.1
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
41 ascites, chylous 10.1
42 cellulitis 10.1
43 optic nerve disease 10.1
44 cystadenoma 10.1
45 crohn's disease 10.1
46 molluscum contagiosum 10.1
47 suppression amblyopia 10.0
48 amblyopia 10.0
49 constipation 10.0
50 lymphangiosarcoma 10.0

Graphical network of the top 20 diseases related to Rare Lymphatic Malformation:



Diseases related to Rare Lymphatic Malformation

Symptoms & Phenotypes for Rare Lymphatic Malformation

Drugs & Therapeutics for Rare Lymphatic Malformation

Drugs for Rare Lymphatic Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Picibanil Phase 4
2
Sodium citrate Approved, Investigational Phase 2 68-04-2
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7
tannic acid Approved Phase 2 1401-55-4
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
9 Phosphodiesterase Inhibitors Phase 2
10 Citrate Phase 2
11 Phosphodiesterase 5 Inhibitors Phase 2
12 Vasodilator Agents Phase 2
13 Sildenafil Citrate Phase 2 171599-83-0
14 Antifungal Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Immunosuppressive Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Anti-Bacterial Agents Phase 2
19 Immunologic Factors Phase 2
20 Pharmaceutical Solutions Phase 2
21
Selenium Approved, Investigational, Vet_approved Phase 1 7782-49-2
22 Nutrients Phase 1
23 Protective Agents Phase 1
24 Trace Elements Phase 1
25 Antioxidants Phase 1
26 Micronutrients Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 OK432 (Picibanil) in the Treatment of Lymphatic Malformations Completed NCT03427619 Phase 4 OK432
2 Treatment of Cystic Hygroma (Lymphangiomas) in Children- Picibanil(OK432) Sclerotherapy-Multicenter Trial Completed NCT00010452 Phase 2, Phase 3 picibanil
3 A Phase 2 Study - Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies Unknown status NCT00975819 Phase 2 sirolimus
4 An Investigational Pilot Study to Evaluate Sildenafil for the Treatment of Lymphatic Malformations Completed NCT01290484 Phase 1, Phase 2 Sildenafil
5 Evaluation of the Efficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic Malformations of Poor Prognosis Recruiting NCT03243019 Phase 2 rapamycin
6 TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN Recruiting NCT04128722 Phase 2 Sirolimus Oral Liquid Product 1mg/mL
7 Phase 2 Study of Sildenafil for the Treatment of Lymphatic Malformations Recruiting NCT02335242 Phase 2 Sildenafil 20 mg tablets
8 0.1% Topical Sirolimus in the Treatment of Cutaneous Microcystic Lymphatic Malformations in Children and Adults: Phase II, Split-body Randomized, Double-blind, Vehicle-controlled Clinical Trial Recruiting NCT03972592 Phase 2 Topical 0.1% Sirolimus;Topical Vehicle
9 Open-Label, Intra Subject, Dose Escalation (Part 1) Followed by Randomized, Double Blind, Placebo Controlled (Part 2) Trial of Topical VT30 in Pts With Venous, Lymphatic or Mixed Malformations Associated With PIK3CA or TEK Genetic Mutations Recruiting NCT04409145 Phase 1, Phase 2 VT30
10 Application of 68Ga NEB PET Imaging in the Diagnosis and Evaluation of Lymphatic Disorders, Including Lymphedema, Lymphangioma, Lymphangioleiomyomatosis, Plastic Bronchitis, Lymphadenopathy Caused by Rheumatoid Arthritis, Etc. Recruiting NCT04273334 Phase 1 68Ga-NEB
11 Pilot Clinical Trial to Estimate the Safety and Efficacy of Selenium in the Treatment of Complicated Lymphatic Malformations in Adolescents and Young Adults Terminated NCT01212965 Phase 1 Selenium
12 Diagnosis of Hemangiomas and Vascular Malformations Using Non-invasive Imaging Devices Completed NCT00577213
13 Airway Vascular Lesions Completed NCT00866827
14 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
15 INST UNM 1601: Compassionate Use of BYL 719 Alpelisib Available NCT03941782 Alpelisib

Search NIH Clinical Center for Rare Lymphatic Malformation

Genetic Tests for Rare Lymphatic Malformation

Anatomical Context for Rare Lymphatic Malformation

MalaCards organs/tissues related to Rare Lymphatic Malformation:

40
Tongue, Pancreas, Spleen, Colon, Adrenal Gland, Endothelial, Small Intestine

Publications for Rare Lymphatic Malformation

Articles related to Rare Lymphatic Malformation:

(show top 50) (show all 3826)
# Title Authors PMID Year
1
Resection of an axillary macrocystic lymphatic malformation in a 14-year-old girl using intraoperative indocyanine green lymphography. 61
32325148 2021
2
Chylopericardium Due to Residual Lymphangiomyoma Detected on 99mTc-Sulfur Colloid Lymphoscintigraphy. 61
33323742 2021
3
Vascular neoplasms and non-neoplastic vascular lesions of the spleen. 61
32674844 2021
4
Retroperitoneal cystic lymphangioma-a case report. 61
33437648 2021
5
Abdominal cystic lymphangioma mimicking ovarian mass: A case report and literature review. 61
33437481 2021
6
Case of feeding disorder due to lymphangioma of the tongue: Importance in developing countries. 61
33522640 2021
7
Cystic lymphangioma of the hepatoduodenal ligament: a rare intra-abdominal tumor mimicking hematoma. 61
32996113 2021
8
A case of lymphangioma circumscriptum with new reflectance confocal microscopy findings. 61
33606271 2021
9
Cutaneous pedunculated lymphangioma in a dog. 61
33522616 2021
10
Recurrent Leiomyosarcoma With Malignant Transformation. 61
33604210 2021
11
Comparison of sonographic findings between neonates with pyriform sinus fistulas and lymphangiomas. 61
33125899 2021
12
A rare cause of intra-abdominal cysts: pancreatic cystic lymphangiomas. 61
33393336 2021
13
Endoscopic ultrasound-guided bleomycin injection for treatment of large paraduodenal lymphangioma. 61
33508303 2021
14
Laryngeal lymphangioma as a cause of respiratory distress in an adult with Down's syndrome: an extremely rare presentation. 61
33504538 2021
15
Acquired lymphangioma circumscriptum in high-grade penile intraepithelial neoplasia. 61
33121365 2021
16
Retroperitoneal Lymphangioma in Adult: A Case Report. 61
33397879 2021
17
Giant pancreatic cystic lymphangioma. 61
33207886 2021
18
Intra-abdominal lymphangioma: A case report. 61
33224397 2021
19
Giant cystic lymphangioma of the stomach: A case report. 61
33363719 2021
20
Multiple simple cystic metastases in the lateral neck at presentation with papillary thyroid microcarcinoma: A case report. 61
33530180 2021
21
Negative-pressure Wound Therapy for Sacral Pressure Ulcer in Gorham-Stout Disease. 61
33552805 2021
22
How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study. 61
32504567 2020
23
Cystic Hygroma with Multiple Benign bone Lymphangiomas in an Adult Patient: a rare Entity in the Differential Diagnosis of Multiple Osseous Lesions in Oncology Practice. 61
33327921 2020
24
A Rare Presentation of Omental Lymphangioma Masquerading as Malignancy in an Adult Patient. 61
33324710 2020
25
New Treatment Option for Capillary Lymphangioma: Bleomycin-Based Electrochemotherapy of an Infant. 61
33234668 2020
26
Acquired lymphangiectasia: a rare mimic of genital warts. 61
33423429 2020
27
Congenital cervical choristoma of the neck mimicking cystic lymphangioma. 61
31983630 2020
28
Giant Anal Fibroepithelial Polyp in a Healthy Teenage Boy: A Case Report and Literature Review. 61
33164595 2020
29
A Case of Lymphangiomatosis With Infected Lymphangiomas Effectively Treated by Thoracoscopic Debridement and Drainage. 61
33160540 2020
30
[Acquired progressive lymphangioma in a 13-year-old boy]. 61
33205257 2020
31
A rare case of a retroperitoneal lymphangioma causing chronic flank pain in an adult. 61
33102105 2020
32
[Axillary lymphangioma in the adult: Clinical ultrasound as a diagnostic tool]. 61
33172771 2020
33
Rare cystic mesenteric mass of the small bowel: mesenteric lymphangioma. 61
33170998 2020
34
Large Recurrent Retroperitoneal Cystic Lymphangioma in an Adult. 61
33170033 2020
35
Acquired scrotal lymphangioma circumscriptum following varicocele surgery: A case report and literature review. 61
33244839 2020
36
Truncal Varicosities and Bilateral Port-wine Stain with Spinal Deformities Associated with Klippel-Trenaunay-Weber Syndrome. 61
33487708 2020
37
Rare case of giant lymphocele treated with supramicrosurgical approach. 61
33337431 2020
38
A case of adrenal lymphangioma resected laparoscopically with minimal invasiveness. 61
33102098 2020
39
Bilateral chylothorax and chylous ascites resulting from the spontaneous rupture of a retroperitoneal lymphangioma. 61
31987467 2020
40
Rare cystic lymphangioma in the chest wall of an adult patient: A case report and comprehensive review of the literature. 61
32986288 2020
41
Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses. 61
33028259 2020
42
Unusual giant multilocular mesothelial cyst of mediastinum. 61
33000344 2020
43
Neonatal intrapulmonary lymphangioma mimicking congenital lobar emphysema. 61
33089573 2020
44
Telangiectatic Carcinoma - Like Lymphangioma Circumscriptum. A Rare Form of Cutaneous Metastasis of Breast Carcinoma: Case Report. 61
33424097 2020
45
Solitary hepatic lymphangioma mimicking liver malignancy: A case report and literature review. 61
33083428 2020
46
Jejunum lymphangioma: a rare case of obscure gastrointestinal bleeding with successful endoscopic therapy. 61
33032354 2020
47
Percutaneous full endoscopic treatment of cystic lymphangioma of cauda equina: a case report. 61
29658356 2020
48
Unusual location and complication of a cystic lymphangioma: A case report. 61
32953098 2020
49
Composite Hemangioendothelioma With Neuroendocrine Marker Expression: Report of a "Paraganglioma-Like" Paravertebral Case. 61
32418470 2020
50
Hyphema-like sign in dermatoscopy of a lymphangioma. 61
32995416 2020

Variations for Rare Lymphatic Malformation

Expression for Rare Lymphatic Malformation

Search GEO for disease gene expression data for Rare Lymphatic Malformation.

Pathways for Rare Lymphatic Malformation

GO Terms for Rare Lymphatic Malformation

Sources for Rare Lymphatic Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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