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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, Skin diseases
Tissues Related diseases Publications Drugs
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Aliases & Classifications for Rare Lymphatic Malformation

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Neuronal diseases Reproductive diseases Skin diseases Immune diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
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Summaries for Rare Lymphatic Malformation

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

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Related Diseases for Rare Lymphatic Malformation

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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

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

(show top 50) (show all 422)
# Related Disease Score Top Affiliating Genes
1 lymphangioma 13.0
2 capillary lymphangioma 12.8
3 cystic lymphangioma 12.7
4 abdominal cystic lymphangioma 12.6
5 colonic lymphangioma 12.4
6 cavernous lymphangioma 12.4
7 orbital lymphangioma 12.3
8 primary laryngeal lymphangioma 12.3
9 nuchal bleb, familial 12.0
10 diffuse lymphatic malformation 11.7
11 kaposiform hemangioendothelioma 11.7
12 mixed cystic lymphatic malformation 11.7
13 lymphangiomatosis 11.7
14 multiple enchondromatosis, maffucci type 11.6
15 cobb syndrome 11.6
16 non-involuting congenital hemangioma 11.5
17 rapidly involuting congenital hemangioma 11.5
18 obsolete: circumscribed lymphatic malformation 11.5
19 infantile myofibromatosis 11.2
20 hygroma cervical 11.2
21 hemangioma 11.1
22 cavernous hemangioma 10.7
23 hemangioma-thrombocytopenia syndrome 10.6
24 spindle cell hemangioma 10.5
25 retiform hemangioendothelioma 10.5
26 exophthalmos 10.5
27 lymphangiectasis 10.5
28 intestinal obstruction 10.5
29 volvulus of midgut 10.4
30 kaposi sarcoma 10.4
31 lymphedema 10.4
32 rare tumor 10.4
33 macroglossia 10.4
34 sarcoma 10.4
35 spindle cell sarcoma 10.4
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 ascites, chylous 10.2
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
48 angiosarcoma 10.2
49 ptosis 10.2
50 optic nerve disease 10.2

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



Diseases related to Rare Lymphatic Malformation
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Symptoms & Phenotypes for Rare Lymphatic Malformation

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Drugs & Therapeutics for Rare Lymphatic Malformation

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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
tannic acid Approved Phase 2 1401-55-4
4
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
9 Citrate Phase 2
10 Vasodilator Agents Phase 2
11 Sildenafil Citrate Phase 2 171599-83-0
12 Phosphodiesterase 5 Inhibitors Phase 2
13 Phosphodiesterase Inhibitors Phase 2
14 Immunologic Factors Phase 2
15 Anti-Infective Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Anti-Bacterial Agents Phase 2
18 Antifungal Agents Phase 2
19 Immunosuppressive Agents Phase 2
20 Pharmaceutical Solutions Phase 2
21
Selenium Approved, Investigational, Vet_approved Phase 1 7782-49-2
22 Micronutrients Phase 1
23 Trace Elements Phase 1
24 Nutrients Phase 1
25 Antioxidants Phase 1
26 Protective Agents 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 Phase 2 Study of Sildenafil for the Treatment of Lymphatic Malformations Recruiting NCT02335242 Phase 2 Sildenafil 20 mg tablets
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 Recruiting NCT03972592 Phase 2 Topical 0.1% Sirolimus;Topical Vehicle
8 TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN Active, not recruiting NCT04128722 Phase 2 Sirolimus Oral Liquid Product 1mg/mL
9 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
10 Role of Doppler Ultrasound in Evaluation of Superficial Soft Tissue Masses Unknown status NCT03171857
11 Airway Vascular Lesions Completed NCT00866827
12 Diagnosis of Hemangiomas and Vascular Malformations Using Non-invasive Imaging Devices Completed NCT00577213
13 Lymphatic Anomalies Registry Recruiting NCT02399527
14 Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome Recruiting NCT02250456
15 INST UNM 1601: Compassionate Use of BYL 719 Alpelisib Available NCT03941782 Alpelisib

Search NIH Clinical Center for Rare Lymphatic Malformation

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Genetic Tests for Rare Lymphatic Malformation

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Anatomical Context for Rare Lymphatic Malformation

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MalaCards organs/tissues related to Rare Lymphatic Malformation:

40
Tongue, Spleen, Pancreas, Colon, Breast, Adrenal Gland, Small Intestine
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Publications for Rare Lymphatic Malformation

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Articles related to Rare Lymphatic Malformation:

(show top 50) (show all 3703)
# Title Authors PMID Year
1
Lymphangiomas: Rare presentations in oral cavity and scrotum in pediatric age group. 61
32031109 2020
2
Gastric lymphangioma coexisting with mucosal gastric cancer: a rare case report. 61
31264079 2020
3
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 61
31218386 2020
4
Macrocystic Lymphangioma in Children Treated by Sclerotherapy With Bleomycin. 61
31977688 2020
5
Congenital cervical choristoma of the neck mimicking cystic lymphangioma. 61
31983630 2020
6
Lymphangioma-like neck mass from metastatic follicular thyroid cancer. 61
31641933 2020
7
Effective use of EUS for diagnosing a jejunal lymphangioma accompanied with hemorrhage. 61
31442393 2020
8
Laparoscopic resection of abdominal cystic lymphangioma derived from lesser omentum: Case report. 61
31895826 2020
9
Lymphangioma of the ileum causing acute abdominal pain in an adult, a very rare finding during surgery; Case report with literature review. 61
31901559 2020
10
The Possible Role of Color Doppler and Pulse Wave Doppler Ultrasound in the Diagnosis of Cutaneous Lymphangioma Circumscriptum. 61
31634308 2020
11
Response to OK-432 sclerotherapy in the treatment of cervical lymphangioma with submucosal extension to the airway. 61
27297957 2020
12
Cystic Lesions of the Pancreas: Differential Diagnosis and Cytologic-Histologic Correlation. 61
31538798 2020
13
Jejunal cavernous lymphangioma manifested as gastrointestinal bleeding with hypogammaglobulinemia in adult: A case report and literature review. 61
31970180 2020
14
Giant Cystic Mediastinal Lymphangioma. 61
32015966 2020
15
Bilateral chylothorax and chylous ascites resulting from the spontaneous rupture of a retroperitoneal lymphangioma. 61
31987467 2020
16
Generalized Lymphangioma of the Tongue: A Rare Cause of Macroglossia. 61
31896901 2020
17
Retroperitoneal cystic lymphangioma as an incidental finding in a patient with pancreatitis symptoms. 61
30948211 2019
18
Image Gallery: Haematogenous metastasis of melanoma mimicking lymphangioma. 61
31845311 2019
19
Orbital Lymphangioma Confined to an Extraocular Muscle. 61
31868796 2019
20
A Case of Vulvar Cavernous Lymphangioma. 61
31886466 2019
21
A case report of complicated appendicular hydatid cyst mimicking an appendiceal mucocele. 61
30972709 2019
22
Development of a biomarker of efficacy in second-line treatment for lymphangioma of the tongue: a pilot study. 61
31727434 2019
23
Lymphangioma of the tongue associated with open bite: case report. 61
31850775 2019
24
Lymphangioma of the Dorsal Tongue. 61
31823215 2019
25
Cavernous Lymphangioma in the Maxillary Sinus. 61
31567765 2019
26
[Orbital cystic lymphangioma in a child: Case report]. 61
31208904 2019
27
Primary lymphangioma circumscriptum of the vulva presenting as warty plaques. 61
30812056 2019
28
Orbital venous lymphatic malformation (lymphangioma) healed with intra-lesional bleomycin. 61
31402076 2019
29
Mediastinal cystic lymphangioma in an infant: 123I-MIBG scintigraphy in the differential diagnosis of neuroblastoma. 61
31757408 2019
30
Acquired lymphangioma circumscriptum of the vulva secondary to severe herpes simplex infection. 61
31757874 2019
31
Spontaneous partial regression of a microcystic jejunal mesenteric lymphangioma and a proposed management algorithm. 61
31767604 2019
32
Reverse Koebner's phenomenon in a case of Lymphohemangioma circumscriptum: A diagnostic clue representative of the Whimster hypothesis. 61
31729823 2019
33
Case report: horse or zebra, ascites or pseudo-ascites? Care for pictural details! 61
31766989 2019
34
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 61
31116429 2019
35
White mesentery and chylous ascites: an interesting presentation of mesenteric lymphangioma. 61
31798825 2019
36
[Orbital Disorders in Childhood]. 61
31412385 2019
37
Lymphangioma in the Buccal Mucosa. 61
31584553 2019
38
A pitfall in diagnosing fetal abdominal lymphangioma: A report of two cases. 61
31287158 2019
39
Laparoscopic exploration and treatment for a mesenteric cyst lymphangioma in adults. 61
30198092 2019
40
mTOR inhibitors for the management of difficult lymphangioma in adults. 61
31923747 2019
41
Abdominal cystic lymphangioma: to operate or not to operate? 61
31625257 2019
42
Microneedle Radiofrequency Treatment of Lymphangioma Circumscriptum. 61
30807388 2019
43
Percutaneous Radiofrequency Ablation of an Auricular Lymphangioma. 61
31447295 2019
44
Cystic lymphangioma in the peripheral jejunal mesentery in an adult and excision with laparoscopic-assisted surgery: a case report. 61
31651341 2019
45
A Case of Cecal Lymphangioma Presenting a Unique Gross Appearance: A Cecal Pedunculated Polyp Showing a Submucosal Polycystic Lesion on a Cut Surface. 61
30618307 2019
46
Congenital lymphangioma circumscriptum of the vulva. 61
31364200 2019
47
A rare case of spontaneous splenic rupture complicated by hemophilia A. 61
31636885 2019
48
Reduction glossectomy of congenital macroglossia due to lymphangioma. 61
31658796 2019
49
Neck masses in children: a 10-year single-centre experience in Northwest China. 61
31266651 2019
50
Adrenal Cystic Lymphangioma: An Unexpected Pathological Finding in a Constellation of Uncontrolled Hypertension and Hypercalcemia. 61
31723502 2019
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Variations for Rare Lymphatic Malformation

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Expression for Rare Lymphatic Malformation

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

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GO Terms for Rare Lymphatic Malformation

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Sources for Rare Lymphatic Malformation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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