PCL
MCID: HRD202
MIFTS: 34

Hereditary Lymphedema I (PCL)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Lymphedema I

MalaCards integrated aliases for Hereditary Lymphedema I:

Name: Hereditary Lymphedema I 12 15
Hereditary Lymphedema Type I 12 30 6
Congenital Primary Lymphedema 12
Lymphedema Hereditary Type 1 77
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070212
UMLS 74 C1704423

Summaries for Hereditary Lymphedema I

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.

MalaCards based summary : Hereditary Lymphedema I, also known as hereditary lymphedema type i, is related to hereditary lymphedema and lymphedema. An important gene associated with Hereditary Lymphedema I is FLT4 (Fms Related Tyrosine Kinase 4). The drugs Paroxetine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include breast, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Wikipedia : 77 Milroy''s disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused... more...

Related Diseases for Hereditary Lymphedema I

Diseases in the Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema

Diseases related to Hereditary Lymphedema I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema 31.3 SOX18 SLC25A3 PHF19 FLT4 CHMP1A
2 lymphedema 31.1 SOX18 FLT4
3 plasma cell leukemia 12.2
4 lymphatic malformation 1 11.9
5 congenital lymphedema 11.5
6 tropical calcific pancreatitis 10.5
7 personality disorder 10.1
8 primary orthostatic tremor 10.1
9 colorectal cancer 10.0
10 hairy nose tip 10.0
11 prostate cancer 10.0
12 prostate cancer, hereditary, 8 10.0
13 prostate cancer, hereditary, 6 10.0
14 spinal cord injury 10.0
15 uveitis 10.0
16 dermatitis 10.0
17 contact dermatitis 10.0
18 klippel-trenaunay-weber syndrome 10.0 SOX18 FLT4
19 squamous cell carcinoma 10.0
20 hemangioendothelioma 10.0
21 retiform hemangioendothelioma 10.0
22 venous malformations, multiple cutaneous and mucosal 9.9 SOX18 FLT4
23 hepatocellular carcinoma 9.9
24 lipomatosis, multiple 9.9
25 pheochromocytoma 9.9
26 lung cancer 9.9
27 osteogenic sarcoma 9.9
28 lung cancer susceptibility 3 9.9
29 gastric cancer 9.9
30 tendinosis 9.9
31 leukemia 9.9
32 pemphigus foliaceus 9.9
33 adrenal gland pheochromocytoma 9.9
34 pleomorphic lipoma 9.9
35 antisocial personality disorder 9.9
36 neuroendocrine tumor 9.9
37 melanoma 9.9
38 post-traumatic stress disorder 9.9
39 adenocarcinoma 9.9
40 substance abuse 9.9
41 glioblastoma multiforme 9.9
42 glioblastoma 9.9
43 trochlear dysplasia 9.9
44 benign childhood occipital epilepsy, gastaut type 9.9
45 benign childhood occipital epilepsy, panayiotopoulos type 9.9
46 osteoporotic fracture 9.9
47 angiosarcoma 9.9

Graphical network of the top 20 diseases related to Hereditary Lymphedema I:



Diseases related to Hereditary Lymphedema I

Symptoms & Phenotypes for Hereditary Lymphedema I

GenomeRNAi Phenotypes related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-3 9.02 ACD CAMTA2
2 Increased Nanog expression GR00371-A-5 9.02 ACD CAMTA2 PHF19

MGI Mouse Phenotypes related to Hereditary Lymphedema I:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ARAP3 CAMTA2 FLT4 PHF19 SLC25A3 SOX18
2 homeostasis/metabolism MP:0005376 9.17 ACD CAMTA2 FLT4 PHF19 SLC25A3 SOX18

Drugs & Therapeutics for Hereditary Lymphedema I

Drugs for Hereditary Lymphedema I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
2 Neurotransmitter Agents Phase 3,Phase 2
3 Cytochrome P-450 Enzyme Inhibitors Phase 3
4 Psychotropic Drugs Phase 3
5 Antidepressive Agents, Second-Generation Phase 3
6 Neurotransmitter Uptake Inhibitors Phase 3
7 Antidepressive Agents Phase 3
8 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
9 Serotonin Agents Phase 3
10 Serotonin Uptake Inhibitors Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Propranolol Approved, Investigational Phase 2 525-66-6 4946
13
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
14 Anti-Arrhythmia Agents Phase 2
15 Adrenergic Agents Phase 2
16 Vasodilator Agents Phase 2
17 Antihypertensive Agents Phase 2
18 Adrenergic Antagonists Phase 2
19 Adrenergic beta-Antagonists Phase 2
20 Immunologic Factors Phase 2
21 Interferon Inducers Phase 2
22 Adjuvants, Immunologic Phase 2
23 interferons Phase 2
24 Anesthetics
25 Complement System Proteins

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3 Brisdelle (paroxetine mesylate);Placebo capsules
2 A Study of Oral VT-1161 for the Treatment of Patients With Recurrent Vaginal Candidiasis (Yeast Infection) Recruiting NCT03561701 Phase 3 VT-1161;Placebo
3 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
4 Evaluation of VGX-3100 and Electroporation Alone or in Combination With Imiquimod for the Treatment of HPV-16 and/or HPV-18 Related Vulvar HSIL (Also Referred as: VIN 2 or VIN 3) Recruiting NCT03180684 Phase 2 Imiquimod 5% cream
5 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909
6 Validation of Metrological Properties of Lymphoqol Unknown status NCT01922635 Not Applicable
7 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
8 Out-of Pocket Payments in Patients With Lymphedema Completed NCT02988479
9 Out-of Pocket Payments With Lymphedema in France Completed NCT02988505
10 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604 Not Applicable
11 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG
12 Histologic Analysis of the Lymphatic Vessels Used for Supermicrosurgical Lymphatico-venous Anastomoses in Lymphedema Recruiting NCT03465930
13 Oedema Study : Chroedem Recruiting NCT02914808
14 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Recruiting NCT03332160 Not Applicable
15 Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced Pneumatic Compression Device (PCD) Recruiting NCT02661646

Search NIH Clinical Center for Hereditary Lymphedema I

Genetic Tests for Hereditary Lymphedema I

Genetic tests related to Hereditary Lymphedema I:

# Genetic test Affiliating Genes
1 Hereditary Lymphedema Type I 30 FLT4

Anatomical Context for Hereditary Lymphedema I

MalaCards organs/tissues related to Hereditary Lymphedema I:

42
Breast

Publications for Hereditary Lymphedema I

Articles related to Hereditary Lymphedema I:

# Title Authors Year
1
Antenatal presentation of hereditary lymphedema type I. ( 25896638 )
2015
2
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I. ( 17945164 )
2007
3
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. ( 16965327 )
2006
4
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. ( 16924388 )
2006
5
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. ( 15904433 )
2005

Variations for Hereditary Lymphedema I

Cosmic variations for Hereditary Lymphedema I:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM52970 GNA11 soft tissue,leg,haemangioma,congenital c.626A>C p.Q209P 19:3118944-3118944 0

Expression for Hereditary Lymphedema I

Search GEO for disease gene expression data for Hereditary Lymphedema I.

Pathways for Hereditary Lymphedema I

GO Terms for Hereditary Lymphedema I

Biological processes related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell proliferation GO:0001938 9.26 FLT4 VIP
2 vasculature development GO:0001944 9.16 FLT4 SOX18
3 lymph vessel development GO:0001945 8.96 FLT4 SOX18
4 lymphangiogenesis GO:0001946 8.62 FLT4 SOX18

Sources for Hereditary Lymphedema I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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