LM
MCID: RRL003
MIFTS: 32

Rare Lymphatic Malformation (LM)

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

Aliases & Classifications for Rare Lymphatic Malformation

MalaCards integrated aliases for Rare Lymphatic Malformation:

Name: Rare Lymphatic Malformation 59
Lymphangioma 59
Lm 59

Characteristics:

Orphanet epidemiological data:

59
rare lymphatic malformation
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 D18.1
UMLS via Orphanet 73 C0024221 C0398368
Orphanet 59 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 Lymphatic Malformations family:

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

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

(show top 50) (show all 424)
# Related Disease Score Top Affiliating Genes
1 lymphangioma 13.0
2 cystic lymphangioma 12.7
3 abdominal cystic lymphangioma 12.6
4 capillary lymphangioma 12.4
5 colonic lymphangioma 12.4
6 microcystic lymphatic malformation 12.4
7 cavernous lymphangioma 12.4
8 orbital lymphangioma 12.3
9 primary laryngeal lymphangioma 12.3
10 lymphatic malformations 12.2
11 nuchal bleb, familial 12.0
12 lymphangiomatosis 11.7
13 diffuse lymphatic malformation 11.7
14 mixed cystic lymphatic malformation 11.7
15 multiple enchondromatosis, maffucci type 11.7
16 cobb syndrome 11.7
17 obsolete: circumscribed lymphatic malformation 11.5
18 infantile myofibromatosis 11.2
19 hygroma cervical 11.1
20 hemangioma 11.1
21 cavernous hemangioma 10.7
22 hemangioma-thrombocytopenia syndrome 10.6
23 spindle cell hemangioma 10.5
24 kaposiform hemangioendothelioma 10.5
25 retiform hemangioendothelioma 10.5
26 exophthalmos 10.5
27 lymphangiectasis 10.5
28 intestinal obstruction 10.5
29 intestinal volvulus 10.4
30 kaposi sarcoma 10.4
31 lymphedema 10.4
32 rare tumor 10.4
33 sarcoma 10.4
34 spindle cell sarcoma 10.4
35 macroglossia 10.3
36 appendicitis 10.3
37 intussusception 10.3
38 anogenital venereal wart 10.3
39 dysphagia 10.3
40 splenomegaly 10.2
41 kaposiform lymphangiomatosis 10.2
42 multifocal lymphangioendotheliomatosis with thrombocytopenia 10.2
43 klippel-trenaunay-weber syndrome 10.2
44 teratoma 10.2
45 47,xyy 10.2
46 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
47 angiosarcoma 10.2
48 ptosis 10.2
49 optic nerve disease 10.2
50 benign mesothelioma 10.2

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Picibanil Phase 4
2
Sodium citrate Approved, Investigational Phase 2 68-04-2
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
6
tannic acid Approved Phase 2 1401-55-4
7
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
9 Sildenafil Citrate Phase 2 171599-83-0
10 Citrate Phase 2
11 Phosphodiesterase Inhibitors Phase 2
12 Phosphodiesterase 5 Inhibitors Phase 2
13 Vasodilator Agents Phase 2
14 Antifungal Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Immunosuppressive Agents Phase 2
19 Immunologic Factors Phase 2
20
Selenium Approved, Investigational, Vet_approved Phase 1 7782-49-2
21 Micronutrients Phase 1
22 Antioxidants Phase 1
23 Protective Agents Phase 1
24 Trace Elements Phase 1
25 Nutrients Phase 1

Interventional clinical trials:

(show all 14)
# 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 An Investigational Pilot Study to Evaluate Sildenafil for the Treatment of Lymphatic Malformations Completed NCT01290484 Phase 1, Phase 2 Sildenafil
4 Evaluation of the Efficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic Malformations of Poor Prognosis Recruiting NCT03243019 Phase 2 rapamycin
5 Phase 2 Study of Sildenafil for the Treatment of Lymphatic Malformations Recruiting NCT02335242 Phase 2 Sildenafil 20 mg tablets
6 A Phase 2 Study - Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
7 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 Not yet recruiting NCT03972592 Phase 2 Topical 0.1% Sirolimus;Topical Vehicle
8 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
9 Diagnosis of Hemangiomas and Vascular Malformations Using Non-invasive Imaging Devices Completed NCT00577213
10 Airway Vascular Lesions Completed NCT00866827
11 Lymphatic Anomalies Registry Recruiting NCT02399527
12 Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome Recruiting NCT02250456
13 INST UNM 1601: Compassionate Use of BYL 719 Alpelisib Available NCT03941782 Alpelisib
14 Role of Doppler Ultrasound in Evaluation of Superficial Soft Tissue Masses Not yet recruiting NCT03171857

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:

41
Tongue, Pancreas, Spleen, Colon, Breast, Small Intestine, Adrenal Gland

Publications for Rare Lymphatic Malformation

Articles related to Rare Lymphatic Malformation:

(show top 50) (show all 3649)
# Title Authors PMID Year
1
Pilar Cyst Pigmented Epithelial Remnants: A Potential Diagnostic Pitfall. 38
31039667 2019
2
Splenic lymphangioma. 38
31430605 2019
3
[Orbital Disorders in Childhood]. 38
31412385 2019
4
Orbital venous lymphatic malformation (lymphangioma) healed with intra-lesional bleomycin. 38
31402076 2019
5
Coincidental Lymphangioma and Hemangioma in a Single Lymph Node. 38
30376741 2019
6
Gastric duplication cyst mimicking large cystic lymphangioma in an adult: A rare case report and review of the literature. 38
31423442 2019
7
Gastric lymphangioma coexisting with mucosal gastric cancer: a rare case report. 38
31264079 2019
8
Congenital lymphangioma circumscriptum of the vulva. 38
31364200 2019
9
Radiofrequency Therapy and Noncosmetic Cutaneous Conditions. 38
30893163 2019
10
Mature Cystic Teratoma of Renal Pelvis: An Unusual Presentation at an Uncommon Site. 38
31258275 2019
11
Cystic mesenteric lymphangioma: A case report. 38
31399398 2019
12
First reported case in Australia: a rare case of lymphangioma of the gallbladder. 38
29488302 2019
13
A pitfall in diagnosing fetal abdominal lymphangioma: A report of two cases. 38
31287158 2019
14
Genital Lesions Masquerading as Condyloma Acuminata: A Case Series Report. 38
31341860 2019
15
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 38
31218386 2019
16
Neck masses in children: a 10-year single-centre experience in Northwest China. 38
31266651 2019
17
[Lymphangioma of the penis]. 38
31162904 2019
18
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 38
31124053 2019
19
A Rare, Giant, Cystic, and Cavernous Lymphangioma Originated from the Stomach in a Young Woman. 38
30039446 2019
20
Primary Supraclavicular Cystic Lymphangioma in an Adult: A Rare Presentation. 38
31142406 2019
21
[Orbital cystic lymphangioma in a child: Case report]. 38
31208904 2019
22
Esophageal lymphangioma: a case report and review of literature. 38
31242868 2019
23
Management of a case of orbital lymphangioma presenting in adulthood with negative-pressure aspiration and bleomycin injection. 38
31177193 2019
24
Lymphatic Malformation of the Nasopharynx in a Young Pregnant Female: A Case Report. 38
31213581 2019
25
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 38
31116429 2019
26
Synovial sarcoma complicating Maffucci syndrome. 38
29667613 2019
27
The Incidence of Nonmalignant Diseases among Patients with Suspected Carcinoma of Unknown Primary Site. 38
30713301 2019
28
Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series. 38
30909010 2019
29
A Giant Cervical Lymphangioma. 38
30817539 2019
30
Cystic lymphangioma of the breast. 38
30972857 2019
31
Giant intra-abdominal cystic lymphangioma. 38
30613066 2019
32
Interventions for orbital lymphangioma. 38
31094450 2019
33
Small-Bowel Volvulus Caused By Mesenteric Lymphangioma. 38
31077830 2019
34
An adrenal cystic lymphangioma: A case report of a rare tumor. 38
31211054 2019
35
Lymphangiomatosis of the ileum with perforation: A case report and review of the literature. 38
30992989 2019
36
Ovarian Lymphangioma with Mature Cystic Teratoma. 38
31110394 2019
37
Small bowel lymphangioma. 38
30195480 2019
38
Ileal volvulus secondary to cystic lymphangioma: A rare case report with a literature review. 38
31143702 2019
39
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. 38
30948211 2019
40
The Roles of Neuropilin 2/VEGF-C Axis in a Series of Recurrent Lymphangioma. 38
31013538 2019
41
Cutaneous lymphangioma circumscriptum: The relevance of clinical, dermoscopic, radiological, and histological assessments. 38
30997047 2019
42
Cystic lesion of pectoralis minor muscle: learning from mistakes. 38
30963055 2019
43
A case report of complicated appendicular hydatid cyst mimicking an appendiceal mucocele. 38
30972709 2019
44
Lymphangioma of the Thoracic Spine with Epidural Compression: A Case Report. 38
30936605 2019
45
Pancreatic Lymphangioma: A Case Report and Literature Review. 38
30371621 2019
46
Photodynamic therapy in vulvar lymphangioma: Case report. 38
30339896 2019
47
30-Day outcomes analysis of NSQIP-pediatric for surgical management of head and neck lymphatic malformations in children. 38
30578991 2019
48
Intra-Abdominal Cystic Lymphangioma. 38
30318372 2019
49
Methemoglobinemia in an Infant After Sclerotherapy With High-Dose Doxycycline. 38
30655334 2019
50
Palmoplantar lymphangioma-like Kaposi sarcoma. 38
30506813 2019

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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