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

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 capillary 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 429)
# Related Disease Score Top Affiliating Genes
1 lymphangioma 13.0
2 capillary lymphangioma 12.8
3 cystic lymphangioma 12.7
4 abdominal cystic lymphangioma 12.7
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 11.7
15 cobb syndrome 11.7
16 non-involuting congenital hemangioma 11.5
17 rapidly involuting congenital hemangioma 11.5
18 infantile myofibromatosis 11.2
19 hygroma cervical 11.2
20 hemangioma 11.1
21 cavernous hemangioma 10.8
22 hemangioma-thrombocytopenia syndrome 10.6
23 spindle cell hemangioma 10.5
24 retiform hemangioendothelioma 10.5
25 exophthalmos 10.5
26 lymphangiectasis 10.5
27 intestinal obstruction 10.5
28 volvulus of midgut 10.4
29 kaposi sarcoma 10.4
30 hereditary lymphedema i 10.4
31 rare tumor 10.4
32 macroglossia 10.4
33 sarcoma 10.4
34 spindle cell sarcoma 10.4
35 intussusception 10.3
36 appendicitis 10.3
37 anogenital venereal wart 10.3
38 dysphagia 10.3
39 kaposiform lymphangiomatosis 10.2
40 multifocal lymphangioendotheliomatosis with thrombocytopenia 10.2
41 splenomegaly 10.2
42 klippel-trenaunay-weber syndrome 10.2
43 benign mesothelioma 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

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
tannic acid Approved Phase 2 1401-55-4
4
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
5
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
8
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
9 Phosphodiesterase 5 Inhibitors Phase 2
10 Phosphodiesterase Inhibitors Phase 2
11 Vasodilator Agents Phase 2
12 Citrate Phase 2
13 Sildenafil Citrate Phase 2 171599-83-0
14 Anti-Infective Agents Phase 2
15 Immunologic Factors Phase 2
16 Immunosuppressive Agents Phase 2
17 Anti-Bacterial Agents Phase 2
18 Antifungal Agents Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Pharmaceutical Solutions Phase 2
21
Selenium Approved, Investigational, Vet_approved Phase 1 7782-49-2
22 Trace Elements Phase 1
23 Antioxidants Phase 1
24 Nutrients Phase 1
25 Micronutrients Phase 1
26 Protective Agents Phase 1

Interventional clinical trials:

(show all 17)
# 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 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
7 Phase 2 Study of Sildenafil for the Treatment of Lymphatic Malformations Recruiting NCT02335242 Phase 2 Sildenafil 20 mg tablets
8 TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN Active, not recruiting NCT04128722 Phase 2 Sirolimus Oral Liquid Product 1mg/mL
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 Not yet 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 Role of Doppler Ultrasound in Evaluation of Superficial Soft Tissue Masses Unknown status NCT03171857
13 Airway Vascular Lesions Completed NCT00866827
14 Diagnosis of Hemangiomas and Vascular Malformations Using Non-invasive Imaging Devices Completed NCT00577213
15 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
16 Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome Recruiting NCT02250456
17 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, Breast, Small Intestine, Adrenal Gland

Publications for Rare Lymphatic Malformation

Articles related to Rare Lymphatic Malformation:

(show top 50) (show all 3739)
# Title Authors PMID Year
1
Reverse Koebner's phenomenon in a case of Lymphohemangioma circumscriptum: A diagnostic clue representative of the Whimster hypothesis. 61
31729823 2020
2
How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study. 61
32504567 2020
3
Lymphangioma of the Dorsal Tongue. 61
31823215 2020
4
Non-adrenal tumors of the adrenal area; what are the pitfalls? 61
32201083 2020
5
Don't call me "Lymphangioma!" 61
32533410 2020
6
A case of intrapulmonary lymphangioma surrounded by pulmonary hilar structures. 61
32576446 2020
7
Laparoscopic partial splenectomy for splenic lymphangioma: a case report. 61
32557234 2020
8
Adult axillary lymphangioma removal using indocyanine green fluorescence imaging system: A case report. 61
32553939 2020
9
Composite Hemangioendothelioma With Neuroendocrine Marker Expression: Report of a "Paraganglioma-Like" Paravertebral Case. 61
32418470 2020
10
Atypical lymphangioma and hyperkeratosis in a patient with morbid obesity. 61
32482545 2020
11
Retroperitoneal mesothelial cyst misdiagnosed as a congenital choledochal cyst for an infant patient: A case report and literature review. 61
32460087 2020
12
Dermatologic Sequelae Associated with Radiation Therapy. 61
32410134 2020
13
Spontaneous regression of a cervical giant cystic lymphangioma. 61
32434676 2020
14
Macrocystic Lymphangioma in Children Treated by Sclerotherapy With Bleomycin. 61
31977688 2020
15
Orbital Lymphangioma Confined to an Extraocular Muscle. 61
31868796 2020
16
Acquired lymphangioma circumscriptum of the vulva secondary to severe herpes simplex infection. 61
31757874 2020
17
Intra-abdominal cystic lymphangioma of the mesocolon sigmoids: a rare entity in adult patient woman. 61
32440329 2020
18
Chylous mesenteric cyst in children -A case report in a 4-year-old boy. 61
32471968 2020
19
Positron emission tomography/computed tomography findings of multiple cystic lymphangiomas in an adult: A case report. 61
32518789 2020
20
Image Gallery: Haematogenous metastasis of melanoma mimicking lymphangioma. 61
31845311 2020
21
Cystic lymphangioma of breast: a rare presentation. 61
32341091 2020
22
Acquired lymphangioma circumscriptum secondary to tuberculosis: A rare case report. 61
32338408 2020
23
Resection of an axillary macrocystic lymphatic malformation in a 14-year-old girl using intraoperative indocyanine green lymphography. 61
32325148 2020
24
Cystic mass appended to the greater curvature of the stomach? Cystic lymphangioma of the greater omentum. 61
32284241 2020
25
Glial Periorbital Heterotopia: A Rare Type of Ocular Mass. 61
32118307 2020
26
Adult Lymphangioma of the Oropharynx: A Case Report. 61
32132067 2020
27
Complete resection of a massive mesenteric lymphangioma in an adult. 61
32188614 2020
28
Mediastinal cystic lymphangioma in an infant: 123I-MIBG scintigraphy in the differential diagnosis of neuroblastoma. 61
31757408 2020
29
Lymphangiomas: Rare presentations in oral cavity and scrotum in pediatric age group. 61
32031109 2020
30
Gastric lymphangioma coexisting with mucosal gastric cancer: a rare case report. 61
31264079 2020
31
Anogenital Papular Lesions in Children Five Year Old and Younger: Gender Differences. 61
32317831 2020
32
Αdnexal cystic lymphangiomas in patients with massive leiomyomatous uterus: a not so uncommon finding on pelvic MRI. 61
31218386 2020
33
Nasolacrimal Lymphangioma Presenting With Hemolacria. 61
32118845 2020
34
Surgical management of giant retroperitoneal lymphangioma in a child. 61
32060118 2020
35
Giant Cystic Mediastinal Lymphangioma. 61
32015966 2020
36
Jejunal cavernous lymphangioma manifested as gastrointestinal bleeding with hypogammaglobulinemia in adult: A case report and literature review. 61
31970180 2020
37
Bilateral chylothorax and chylous ascites resulting from the spontaneous rupture of a retroperitoneal lymphangioma. 61
31987467 2020
38
Generalized Lymphangioma of the Tongue: A Rare Cause of Macroglossia. 61
31896901 2020
39
Intralesional bleomycin: A treatment modality for conjunctival lymphangioma. 61
32174741 2020
40
Bladder Lymphangioma Treated by Holmium Laser: Extremely Rare Case Report. 61
32273967 2020
41
Abdominoscrotal Lymphangioma Masquerading as a Communicating Hydrocele: A Case Report. 61
32342921 2020
42
Huge omental lymphangioma with haemorrhage in children: case report. 61
32341741 2020
43
Congenital cervical choristoma of the neck mimicking cystic lymphangioma. 61
31983630 2020
44
Lymphangioma-like neck mass from metastatic follicular thyroid cancer. 61
31641933 2020
45
A Case of Adult Orbital Intraconal Lymphangioma. 61
32181195 2020
46
Splenic lymphangioma in adulthood: A case report. 61
32086147 2020
47
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
48
[The multidisciplinary challenge of anesthesia for ex utero intrapartum treatment: a case report]. 61
32171498 2020
49
False vocal cord perforation with abscess treated by negative pressure wound therapy. 61
32284867 2020
50
Cystic Lesions of the Pancreas: Differential Diagnosis and Cytologic-Histologic Correlation. 61
31538798 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
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
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