LMPHM5
MCID: LYM145
MIFTS: 52

Lymphatic Malformation 5 (LMPHM5)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Lymphatic Malformation 5

MalaCards integrated aliases for Lymphatic Malformation 5:

Name: Lymphatic Malformation 5 57
Meige Syndrome 11 19 75 43 14
Lymphedema Praecox 57 42 73 28
Meige Lymphedema 57 42 58 73
Meige Disease 57 42 58 73
Lymphedema, Late-Onset 57 73
Late-Onset Lymphedema 42 73
Meigs Syndrome 58 53
Lmph2 42 73
Lymphedema, Hereditary, Ii, Formerly 57
Hereditary Lymphedema Type Ii 58
Lymphedema, Hereditary, Ii 73
Lymphedema, Hereditary, 2 73
Hereditary Lymphedema Ii 42
Demons-Meigs Syndrome 58
Lmph2, Formerly 57
Meige's Disease 5
Lmphm5 57

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Meigs Syndrome: Adult 58
Meige Disease: Adolescent,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset around puberty


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:3982
OMIM® 57 153200
SNOMED-CT 68 230325003
MESH via Orphanet 44 D008538
ICD10 via Orphanet 32 D27 Q82.0
UMLS via Orphanet 72 C0025183 C0025184 C0238261 more
ICD11 33 1050919535
UMLS 71 C0025183

Summaries for Lymphatic Malformation 5

MedlinePlus Genetics: 42 Meige disease is a condition that affects the normal function of the lymphatic system. The lymphatic system consists of a network of vessels that transport lymphatic fluid and immune cells throughout the body. Meige disease is characterized by the abnormal transport of lymphatic fluid. When this fluid builds up abnormally, it causes swelling (lymphedema) in the lower limbs.Meige disease is classified as a primary lymphedema, which means it is a form of lymphedema that is not caused by other health conditions. In Meige disease, the lymphatic system abnormalities are present from birth (congenital), although the swelling is not usually apparent until puberty. The swelling often begins in the feet and ankles and progresses up the legs to the knees. Some affected individuals develop non-contagious skin infections called cellulitis or erysipelas in the legs, which can further damage the vessels that carry lymphatic fluid.

MalaCards based summary: Lymphatic Malformation 5, also known as meige syndrome, is related to lymphatic malformation 1 and congenital lymphedema. An important gene associated with Lymphatic Malformation 5 is EPHB4 (EPH Receptor B4). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and tongue, and related phenotypes are atypical scarring of skin and cellulitis

OMIM®: 57 Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100. (153200) (Updated 08-Dec-2022)

Orphanet 58 Meigs syndrome: Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.

Meige disease: Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.

GARD: 19 Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary. The exact cause of Meige syndrome is unknown.

UniProtKB/Swiss-Prot: 73 A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment.

Disease Ontology: 11 A cranio-facial dystonia that is accompanied by blepharospasm.

Wikipedia: 75 Meige's syndrome is a type of dystonia. It is also known as Brueghel's syndrome and oral facial... more...

Related Diseases for Lymphatic Malformation 5

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
Lymphatic Malformation 9 Lymphatic Malformation 10
Lymphatic Malformation 11 Lymphatic Malformation 12

Diseases related to Lymphatic Malformation 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 254)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 30.9 FLT4 EPHB4
2 congenital lymphedema 30.3 FOXC2 FLT4
3 primary lymphedema 30.3 SOX18 FOXC2 FLT4 EPHB4 CELSR1
4 yellow nail syndrome 30.1 SOX18 FOXC2
5 torticollis 30.0 TOR1A CIZ1
6 hypotrichosis 30.0 SOX18 FOXC2 FLT4
7 hereditary lymphedema ii 29.9 TOR2A TOR1A THAP1 TAF1 SOX18 SGCE
8 choreatic disease 29.8 TOR1A THAP1 SGCE GNAL
9 hereditary lymphedema i 29.8 SOX18 FOXC2 FLT4 EPHB4 CCBE1
10 hereditary lymphedema 29.8 SOX18 FOXC2 FLT4 CELSR1 CCBE1
11 lymphedema-distichiasis syndrome 29.4 SOX18 FOXC2 FLT4 EPHB4 CCBE1
12 movement disease 29.3 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
13 dystonia 28.9 TOR2A TOR1A THAP1 TAF1L TAF1 SGCE
14 cervical dystonia 28.6 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
15 segmental dystonia 28.6 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
16 dystonia 12 28.6 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
17 oromandibular dystonia 28.3 TOR2A TOR1A THAP1 TAF1L TAF1 SGCE
18 focal dystonia 28.3 TOR1A THAP1 TAF1L TAF1 SGCE KANTR
19 blepharospasm 28.3 TOR2A TOR1A THAP1 TAF1L TAF1 SGCE
20 pseudo-meigs syndrome 11.6
21 atypical meigs syndrome 11.4
22 ovarian fibroma 11.2
23 ovarian fibrothecoma 11.1
24 fibroma 10.8
25 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration 10.6
26 hereditary spastic paraplegia 35 10.6
27 ovarian cancer 10.6
28 struma ovarii 10.6
29 leiomyoma 10.6
30 leiomyoma, uterine 10.5
31 colonic benign neoplasm 10.4
32 filarial elephantiasis 10.4
33 colorectal cancer 10.4
34 systemic lupus erythematosus 10.4
35 peritonitis 10.4
36 lupus erythematosus 10.4
37 cystadenoma 10.3
38 teratoma 10.3
39 systemic lupus erythematosus 1 10.3
40 primary progressive multiple sclerosis 10.3
41 myoma 10.3
42 generalized lymphatic anomaly 10.3 FLT4 EPHB4
43 hemifacial spasm 10.3
44 hereditary lymphedema ia 10.3 FLT4 EPHB4
45 cranio-facial dystonia 10.2 TOR1A THAP1
46 elephantiasis 10.2
47 coloboma of optic nerve 10.2
48 teratoma, ovarian 10.2
49 goiter 10.2
50 germ cell tumor 10.2

Graphical network of the top 20 diseases related to Lymphatic Malformation 5:



Diseases related to Lymphatic Malformation 5

Symptoms & Phenotypes for Lymphatic Malformation 5

Human phenotypes related to Lymphatic Malformation 5:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atypical scarring of skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000987
2 cellulitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100658
3 skin dimple 58 30 Frequent (33%) Frequent (79-30%)
HP:0010781
4 skin erosion 58 30 Frequent (33%) Frequent (79-30%)
HP:0200041
5 pedal edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010741
6 recurrent bacterial skin infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0005406
7 predominantly lower limb lymphedema 58 30 Frequent (33%) Frequent (79-30%)
HP:0003550
8 absence of lymph node germinal center 58 30 Frequent (33%) Frequent (79-30%)
HP:0002849
9 lymph node hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002732
10 cobblestone-like hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0031288
11 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200042
12 varicose veins 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002619
13 periorbital edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100539
14 pleural effusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002202
15 peripheral edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012398
16 facial edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000282
17 edema of the dorsum of hands 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007514
18 laryngeal edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012027
19 angiosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200058
20 cleft palate 30 Occasional (7.5%) HP:0000175
21 yellow nails 30 Occasional (7.5%) HP:0011367
22 lymphedema 58 Very frequent (99-80%)
23 recurrent skin infections 58 Frequent (79-30%)
24 hypoplasia of lymphatic vessels 30 HP:0003759

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Mouth:
cleft palate (in some patients)

Head And Neck Face:
facial swelling (in some patients)

Muscle Soft Tissue:
lymphedema, predominantly in the lower limbs
paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

Skin Nails Hair Nails:
yellow nails (in some patients)

Clinical features from OMIM®:

153200 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 5

Drugs for Lymphatic Malformation 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3
abobotulinumtoxinA Phase 2, Phase 3
4 Botulinum Toxins, Type A Phase 2, Phase 3
5 Botulinum Toxins Phase 2, Phase 3
6 Cholinergic Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Clinical Study on Wumeiwan Jiawei Fang Use in Patients With Blepharospasm Recruiting NCT05618470 Phase 2, Phase 3 Wumeiwan Jiawei Fang;botulinum toxin A
2 A Comparative Study of GPI's DBS and Pallidotomy in the Treatment of Meige Syndrome Active, not recruiting NCT04618887

Search NIH Clinical Center for Lymphatic Malformation 5

Cochrane evidence based reviews: meige syndrome

Genetic Tests for Lymphatic Malformation 5

Genetic tests related to Lymphatic Malformation 5:

# Genetic test Affiliating Genes
1 Lymphedema Praecox 28

Anatomical Context for Lymphatic Malformation 5

Organs/tissues related to Lymphatic Malformation 5:

MalaCards : Skin, Ovary, Tongue, Lymph Node, Globus Pallidus, Subthalamic Nucleus, Brain

Publications for Lymphatic Malformation 5

Articles related to Lymphatic Malformation 5:

(show top 50) (show all 860)
# Title Authors PMID Year
1
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 62 57
18197197 2008
2
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. 62 57
7747790 1995
3
Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. 62 57
6679236 1983
4
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. 62 57
6342849 1983
5
Familial lymphedema praecox: Meige's disease. 62 57
7232571 1981
6
[Observations on Nonne-Milroy-Meige syndrome]. 62 57
14482593 1961
7
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 57
24744435 2014
8
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 57
23410910 2013
9
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. 5
19289394 2009
10
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 5
16965327 2006
11
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 5
16924388 2006
12
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. 5
12960217 2003
13
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 57
11371511 2001
14
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. 5
10856194 2000
15
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 5
10835628 2000
16
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. 5
9817924 1998
17
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 57
295075 1979
18
Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family. 57
5718986 1968
19
Yellow nails, lymphoedema, and pleural effusions. 57
5914998 1966
20
[Hereditary lymphedema, Meige type]. 57
13957940 1963
21
Elevated CA125 level associated with Meigs' syndrome: case report and review of the literature. 53 62
16515612 2006
22
Ovarian granulosa cell tumor presenting as Meigs' syndrome with elevated CA125. 53 62
15906965 2005
23
Meigs' syndrome with elevated CA125: case report and review of the literature. 53 62
10192495 1999
24
Rare cause of ascites and pleural effusion: The first case report and literature review of pseudo-pseudo Meig's syndrome in Taiwan. 62
35459608 2022
25
Ovarian collision tumor consisting of sclerosing stromal tumor and mature cystic teratoma complicated with Meigs syndrome: A case report. 62
36420070 2022
26
Micro lesion effect of pallidal deep‑brain stimulation for meige syndrome. 62
36411289 2022
27
A Case of Atypical Pseudo-Meigs' Syndrome without Pleural Effusion due to Ovarian Metastasis from Sigmoid Colon Cancer. 62
36223922 2022
28
A case of death of patient with ovarian fibroma combined with Meigs Syndrome and literature review. 62
36253781 2022
29
Thoracic endometriosis masquerading as Meigs' syndrome in a young woman: A case report and literature review. 62
36246455 2022
30
Deep brain stimulation in dystonia: factors contributing to variability in outcome in short and long term follow-up. 62
35787538 2022
31
Mutation of ADCY5 gene in patients with Meige syndrome. 62
35288007 2022
32
Pseudo-pseudo Meigs syndrome: an uncommon onset of Systemic Lupus Erythematosus. 62
36056947 2022
33
Pseudo-pseudo Meig's syndrome presenting as an acute surgical abdomen: A rare entity and review of the literature. 62
35403321 2022
34
Large uterine leiomyoma presenting as pseudo-Meigs' syndrome with an elevated ca125: a case report and literature review. 62
35685293 2022
35
Genetic screening in patients of Meige syndrome and blepharospasm. 62
35044558 2022
36
Henry Meige: The man and his understanding of dystonia, at the turn of the 19th to 20th century. 62
34799079 2022
37
Meigs Syndrome Caused by Ovarian Granulosa Cell Tumor: A Case Report. 62
35032667 2022
38
A challenging case of pseudo Meigs syndrome: A case report. 62
35320242 2022
39
Lupus-related protein-losing enteropathy associated with pseudo-pseudo Meigs' syndrome and successfully treated with hydroxychloroquine. 62
34333880 2022
40
Long-term efficacy of GPi DBS for craniofacial dystonia: a retrospective report of 13 cases. 62
34185189 2022
41
Metabolic Imaging of Deep Brain Stimulation in Meige Syndrome. 62
35370610 2022
42
Meigs syndrome. 62
35760576 2022
43
Struma Ovarii Associated with Ascites and Elevated CA125: Two Case Reports and Review of the Literature. 62
36101557 2022
44
Antibody Development in Patients Treated Long-Term With OnabotulinumtoxinA for Benign Essential Blepharospasm and Hemifacial Spasm. 62
33470741 2021
45
[A Case of Pseudo-Meigs' Syndrome Caused by Ovarian Metastasis from Colon Cancer]. 62
35045519 2021
46
Aripiprazole in Meige Syndrome: Clinical Response and Implications for Treatment Development. 62
34456230 2021
47
Meigs' syndrome and adult-type granulosa cell tumor. 62
34794749 2021
48
Oral health and oral health-related quality of life in patients with oral dystonia indicates their need for dental special care. 62
34023846 2021
49
Giant Ovarian Thecoma Associated with Meigs Syndrome: A Striking Case. 62
34463241 2021
50
Regional metabolic and network changes in Meige syndrome. 62
34344985 2021

Variations for Lymphatic Malformation 5

ClinVar genetic disease variations for Lymphatic Malformation 5:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLT4 NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) SNV Pathogenic
16259 rs267606818 GRCh37: 5:180046743-180046743
GRCh38: 5:180619743-180619743
2 FLT4 NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) SNV Pathogenic
16260 rs121909650 GRCh37: 5:180043464-180043464
GRCh38: 5:180616464-180616464
3 FLT4 NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) SNV Pathogenic
16261 rs121909651 GRCh37: 5:180043455-180043455
GRCh38: 5:180616455-180616455
4 FLT4 NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) SNV Pathogenic
16262 rs121909652 GRCh37: 5:180040101-180040101
GRCh38: 5:180613101-180613101
5 FLT4 NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) SNV Pathogenic
16263 rs121909653 GRCh37: 5:180043482-180043482
GRCh38: 5:180616482-180616482
6 FLT4 NM_182925.5(FLT4):c.2632G>A (p.Val878Met) SNV Pathogenic
16265 rs121909654 GRCh37: 5:180046680-180046680
GRCh38: 5:180619680-180619680
7 FLT4 NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) SNV Pathogenic
16266 rs121909655 GRCh37: 5:180041142-180041142
GRCh38: 5:180614142-180614142
8 FLT4 NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) SNV Pathogenic
16267 rs121909656 GRCh37: 5:180041083-180041083
GRCh38: 5:180614083-180614083
9 FLT4 NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) SNV Pathogenic
16269 rs121909657 GRCh37: 5:180046749-180046749
GRCh38: 5:180619749-180619749
10 FLT4 NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) MICROSAT Pathogenic
16268 rs587776833 GRCh37: 5:180041074-180041076
GRCh38: 5:180614074-180614076
11 EPHB4 NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) SNV Pathogenic
1700049 GRCh37: 7:100410476-100410476
GRCh38: 7:100812854-100812854
12 FLT4 NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV Likely Pathogenic
692043 rs1451816005 GRCh37: 5:180043465-180043465
GRCh38: 5:180616465-180616465
13 EPHB4 NM_004444.5(EPHB4):c.1423-6G>A SNV Likely Pathogenic
994305 rs762817852 GRCh37: 7:100414985-100414985
GRCh38: 7:100817363-100817363
14 FLT4 NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV Likely Pathogenic
932061 rs1762335528 GRCh37: 5:180040032-180040032
GRCh38: 5:180613032-180613032
15 FLT4 NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) SNV Likely Pathogenic
1030389 rs1761973773 GRCh37: 5:180036040-180036040
GRCh38: 5:180609040-180609040
16 FLT4 NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) SNV Uncertain Significance
930398 rs1762428823 GRCh37: 5:180041152-180041152
GRCh38: 5:180614152-180614152
17 FLT4 NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) SNV Uncertain Significance
930555 rs1189576922 GRCh37: 5:180038407-180038407
GRCh38: 5:180611407-180611407
18 FLT4 NM_182925.5(FLT4):c.1093G>A (p.Glu365Lys) SNV Uncertain Significance
1683756 GRCh37: 5:180055892-180055892
GRCh38: 5:180628892-180628892
19 FLT4 NM_182925.5(FLT4):c.1984G>A (p.Asp662Asn) SNV Uncertain Significance
1319628 GRCh37: 5:180048578-180048578
GRCh38: 5:180621578-180621578
20 FLT4 NM_182925.5(FLT4):c.3198C>T (p.Pro1066=) SNV Benign
263044 rs1130378 GRCh37: 5:180043388-180043388
GRCh38: 5:180616388-180616388
21 FLT4 NM_182925.5(FLT4):c.1103+20A>C SNV Benign
263017 rs383985 GRCh37: 5:180055862-180055862
GRCh38: 5:180628862-180628862
22 FLT4 NM_182925.5(FLT4):c.2168-49G>A SNV Benign
263034 rs2242214 GRCh37: 5:180048056-180048056
GRCh38: 5:180621056-180621056
23 FLT4 NM_182925.5(FLT4):c.2299+13G>C SNV Benign
263036 rs423086 GRCh37: 5:180047863-180047863
GRCh38: 5:180620863-180620863
24 FLT4 NM_182925.5(FLT4):c.2670C>G (p.His890Gln) SNV Benign
263039 rs448012 GRCh37: 5:180046344-180046344
GRCh38: 5:180619344-180619344
25 FLT4 NM_182925.5(FLT4):c.2761+44G>A SNV Benign
263040 rs446003 GRCh37: 5:180046209-180046209
GRCh38: 5:180619209-180619209
26 FLT4 NM_182925.5(FLT4):c.1103+18C>T SNV Benign
263016 rs438464 GRCh37: 5:180055864-180055864
GRCh38: 5:180628864-180628864
27 FLT4 NM_182925.5(FLT4):c.1104-42T>C SNV Benign
263020 rs402647 GRCh37: 5:180053307-180053307
GRCh38: 5:180626307-180626307
28 FLT4 NM_182925.5(FLT4):c.3220-29A>G SNV Benign
263049 rs659268 GRCh37: 5:180041208-180041208
GRCh38: 5:180614208-180614208

Expression for Lymphatic Malformation 5

Search GEO for disease gene expression data for Lymphatic Malformation 5.

Pathways for Lymphatic Malformation 5

GO Terms for Lymphatic Malformation 5

Biological processes related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell migration GO:0010595 9.63 FOXC2 FLT4 CCBE1
2 respiratory system process GO:0003016 9.56 FLT4 CCBE1
3 lymphangiogenesis GO:0001946 9.56 SOX18 FOXC2 FLT4 CCBE1
4 lymph vessel development GO:0001945 9.02 SOX18 FOXC2 FLT4 CCBE1

Molecular functions related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II general transcription initiation factor binding GO:0001091 8.92 TAF1L TAF1

Sources for Lymphatic Malformation 5

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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