Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LMPHM5
MCID: LYM145
MIFTS: 48

Lymphatic Malformation 5 (LMPHM5)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Lymphatic Malformation 5

About this section

MalaCards integrated aliases for Lymphatic Malformation 5:

Name: Lymphatic Malformation 5 57
Meige Syndrome 12 73 20 58 44 15
Lymphedema Praecox 57 43 72 29
Meige Lymphedema 57 43 58 72
Meige Disease 57 43 58 72
Blepharospasm-Oromandibular Dystonia Syndrome 20 58
Lymphedema, Late-Onset 57 72
Late-Onset Lymphedema 43 72
Meige Dystonia 20 58
Meigs Syndrome 58 54
Lmph2 43 72
Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome 20
Lymphedema, Hereditary, Ii, Formerly; Lmph2, Formerly 57
Blepharospasm - Oromandibular Dystonia 20
Lymphedema, Hereditary, Ii, Formerly 57
Blepharospasm-Oromandibular Dystonia 20
Hereditary Lymphedema Type Ii 58
Lymphedema, Hereditary, Ii 72
Segmental Cranial Dystonia 20
Lymphedema, Hereditary, 2 72
Hereditary Lymphedema Ii 43
Demons-Meigs Syndrome 58
Oral Facial Dystonia 20
Brueghel Syndrome 20
Meige's Syndrome 20
Lmph2, Formerly 57
Meige's Disease 6
Lmphm5 57

Characteristics:

Orphanet epidemiological data:

58
meigs syndrome
Inheritance: Not applicable; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset around puberty


HPO:

31
lymphatic malformation 5:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Cardiovascular diseases Reproductive diseases Skin diseases Gastrointestinal diseases Respiratory diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:3982
OMIM® 57 153200
SNOMED-CT 67 230325003
MESH via Orphanet 45 D008538
ICD10 via Orphanet 33 D27 G24.8 Q82.0
UMLS via Orphanet 71 C0025183 C0025184 C0238261 more
UMLS 70 C0025183
Sources

Summaries for Lymphatic Malformation 5

About this section
MedlinePlus Genetics : 43 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 primary lymphedema and cranio-facial dystonia. An important gene associated with Lymphatic Malformation 5 is FLT4 (Fms Related Receptor Tyrosine Kinase 4). Affiliated tissues include ovary, tongue and brain, and related phenotypes are atypical scarring of skin and cellulitis

Disease Ontology : 12 A cranio-facial dystonia that is accompanied by blepharospasm.

GARD : 20 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, but researchers suspect that it is due to a combination of genetic and environmental factors. Treatment focuses on each person's symptoms and may include drug therapy and/or botulinum A toxin (Botox) injections. Other treatment options, such as deep brain stimulation, are currently being considered.

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 20-May-2021)

UniProtKB/Swiss-Prot : 72 Lymphedema, hereditary, 2: 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.

Wikipedia : 73 Meige's syndrome is a type of dystonia. It is also known as Brueghel's syndrome and oral facial... more...

Sources

Related Diseases for Lymphatic Malformation 5

About this section

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

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

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 primary lymphedema 30.8 FOXC2 FLT4
2 cranio-facial dystonia 30.3 TOR1A THAP1
3 congenital lymphedema 30.2 FOXC2 FLT4
4 spasmodic dysphonia 30.1 TOR1A THAP1
5 hereditary lymphedema 30.0 SOX18 FOXC2 FLT4 CCBE1
6 filariasis 30.0 FOXC2 FLT4
7 oromandibular dystonia 30.0 TOR1A THAP1 SGCE
8 yellow nail syndrome 29.9 SOX18 FOXC2
9 hereditary lymphedema i 29.8 SOX18 FOXC2 FLT4 CCBE1
10 hypotrichosis 29.8 SOX18 FOXC2 FLT4
11 dystonia 29.8 TOR1A THAP1 TAF1 SGCE
12 cervical dystonia 29.7 TOR1A THAP1 SGCE
13 choreatic disease 29.7 TOR1A THAP1 SGCE
14 lymphedema-distichiasis syndrome 29.4 SOX18 FOXC2 FLT4 CCBE1
15 hereditary lymphedema ii 29.4 TOR1A THAP1 TAF1L TAF1 SOX18 SGCE
16 focal dystonia 29.0 TOR1A THAP1 TAF1L TAF1 SGCE
17 blepharospasm 29.0 TOR1A THAP1 TAF1L TAF1 SGCE
18 movement disease 28.8 TOR1A THAP1 TAF1L TAF1 SGCE
19 segmental dystonia 28.6 TOR1A THAP1 TAF1L TAF1 SGCE
20 pseudo-meigs syndrome 11.4
21 atypical meigs syndrome 11.3
22 blepharospasm, benign essential 11.2
23 fibroma 10.7
24 ovarian fibroma 10.6
25 struma ovarii 10.6
26 leiomyoma 10.5
27 leiomyoma, uterine 10.4
28 ovarian fibrothecoma 10.4
29 ovarian cancer 10.3
30 cystadenoma 10.3
31 teratoma 10.3
32 peritonitis 10.3
33 systemic lupus erythematosus 10.3
34 myoma 10.3
35 lupus erythematosus 10.3
36 hemifacial spasm, familial 10.2
37 hemifacial spasm 10.2
38 elephantiasis 10.2
39 teratoma, ovarian 10.2
40 goiter 10.2
41 ovarian germ cell teratoma 10.2
42 meningioma, familial 10.2
43 intracranial meningioma 10.2
44 bell's palsy 10.2
45 secretory meningioma 10.2
46 lymphoplasmacyte-rich meningioma 10.2
47 cerebellopontine angle meningioma 10.2
48 cellulitis 10.1
49 pleurisy 10.1
50 cystic teratoma 10.1

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



Diseases related to Lymphatic Malformation 5
Sources

Symptoms & Phenotypes for Lymphatic Malformation 5

About this section

Human phenotypes related to Lymphatic Malformation 5:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
2 cellulitis 58 31 frequent (33%) Frequent (79-30%) HP:0100658
3 skin erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200041
4 recurrent bacterial skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0005406
5 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
6 predominantly lower limb lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0003550
7 absence of lymph node germinal center 58 31 frequent (33%) Frequent (79-30%) HP:0002849
8 lymph node hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002732
9 cobblestone-like hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0031288
10 skin dimple 31 frequent (33%) HP:0010781
11 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
12 varicose veins 58 31 occasional (7.5%) Occasional (29-5%) HP:0002619
13 periorbital edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0100539
14 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
15 peripheral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0012398
16 facial edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000282
17 edema of the dorsum of hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0007514
18 laryngeal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0012027
19 angiosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0200058
20 cleft palate 31 occasional (7.5%) HP:0000175
21 yellow nails 31 occasional (7.5%) HP:0011367
22 lymphedema 58 Very frequent (99-80%)
23 skin dimples 58 Frequent (79-30%)
24 recurrent skin infections 58 Frequent (79-30%)
25 hypoplasia of lymphatic vessels 31 HP:0003759

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

Sources

Drugs & Therapeutics for Lymphatic Malformation 5

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Sources

Genetic Tests for Lymphatic Malformation 5

About this section

Genetic tests related to Lymphatic Malformation 5:

# Genetic test Affiliating Genes
1 Lymphedema Praecox 29
Sources

Anatomical Context for Lymphatic Malformation 5

About this section

MalaCards organs/tissues related to Lymphatic Malformation 5:

40
Ovary, Tongue, Brain, Lymph Node, Thyroid, Heart, Colon
Sources

Publications for Lymphatic Malformation 5

About this section

Articles related to Lymphatic Malformation 5:

(show top 50) (show all 173)
# Title Authors PMID Year
1
[Observations on Nonne-Milroy-Meige syndrome]. 57 61
14482593 1961
2
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 57
24744435 2014
3
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. 20 61
23541393 2013
4
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
5
Long-term clinical outcome in meige syndrome treated with internal pallidum deep brain stimulation. 20 61
21312284 2011
6
Long-term follow-up of deep brain stimulation for Meige syndrome. 61 20
20672922 2010
7
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. 6
19289394 2009
8
Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. 57
18197197 2008
9
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 6
16965327 2006
10
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 6
16924388 2006
11
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. 6
12960217 2003
12
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 57
11371511 2001
13
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. 6
10856194 2000
14
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 6
10835628 2000
15
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. 6
9817924 1998
16
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. 57
7747790 1995
17
Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. 57
6679236 1983
18
Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. 57
6342849 1983
19
Familial lymphedema praecox: Meige's disease. 57
7232571 1981
20
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 57
295075 1979
21
Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema feet in a family. 57
5718986 1968
22
Yellow nails, lymphoedema, and pleural effusions. 57
5914998 1966
23
[Hereditary lymphedema, Meige type]. 57
13957940 1963
24
Arching deep brain stimulation in dystonia types. 61
33740122 2021
25
Stimulation-Induced Dyskinesia After Subthalamic Nucleus Deep Brain Stimulation in Patients With Meige Syndrome. 61
32964635 2021
26
Subthalamic Nucleus Deep Brain Stimulation in Primary Meige Syndrome: A 1-Year Follow-Up Study. 61
32476223 2021
27
Similar Long-Term Clinical Outcomes of Deep Brain Stimulation With Different Electrode Targets for Primary Meige Syndrome: One Institution's Experience of 17 Cases. 61
33159411 2021
28
Antibody Development in Patients Treated Long-Term With OnabotulinumtoxinA for Benign Essential Blepharospasm and Hemifacial Spasm. 61
33470741 2021
29
Pallidal deep brain stimulation in primary Meige syndrome: clinical outcomes and psychiatric features. 61
33028603 2020
30
Grey matter changes in Meige syndrome: a voxel-based morphology analysis. 61
32884000 2020
31
A Case of Meige Syndrome Treated With Baclofen. 61
33101815 2020
32
Report: A case report of Meige syndrome-like blepharospasm caused by ingestion of allopurinol. 61
33583805 2020
33
[Max Nonne (1861-1959) and his attitude towards "euthanasia"]. 61
32067081 2020
34
Effect of Deep Brain Stimulation on Swallowing Function: A Systematic Review. 61
32765388 2020
35
Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not? 61
31509253 2019
36
Deep brain stimulation for Meige syndrome: a meta-analysis with individual patient data. 61
31302747 2019
37
RET-Rearranged Lung Adenocarcinoma with Paraneoplastic Meige Syndrome. 61
31668323 2019
38
Meige Syndrome Related to Vortioxetine in 2 Sisters: Case Reports. 61
31688381 2019
39
Remission in dystonia - Systematic review of the literature and meta-analysis. 61
30898428 2019
40
Predictive factors for long-term clinical outcomes of deep brain stimulation in the treatment of primary Meige syndrome. 61
30952124 2019
41
Post-operative electrode location and clinical efficacy of subthalamic nucleus deep brain stimulation in Meige syndrome. 61
30217540 2019
42
Long-Term Efficacy of Deep Brain Stimulation of Bilateral Globus Pallidus Internus in Primary Meige Syndrome. 61
31927550 2019
43
Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome. 61
29716720 2019
44
Interleaving programming in pallidal deep brain stimulation improves outcomes in a patient with Meige syndrome. 61
30526116 2018
45
The impact of deep brain stimulation on health related quality of life and disease-specific disability in Meige Syndrome (MS). 61
29807200 2018
46
Bilateral deep brain stimulation of the subthalamic nucleus in primary Meige syndrome. 61
28548593 2018
47
Brueghel Syndrome or Meige Syndrome? Two Sides of a Same Disease. 61
29145188 2018
48
Long-term outcome of pallidal stimulation for Meige syndrome. 61
29350600 2018
49
Long-term clinical outcome of bilateral pallidal stimulation for intractable craniocervical dystonia (Meige syndrome). Report of 6 patients. 61
29246604 2017
50
Bilateral pallidotomy for Meige syndrome. 61
28424916 2017
Sources

Variations for Lymphatic Malformation 5

About this section

ClinVar genetic disease variations for Lymphatic Malformation 5:

6 (show all 15)
# 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.3320_3322TCT[1] (p.Phe1108del) Microsatellite Pathogenic 16268 rs587776833 GRCh37: 5:180041074-180041076
GRCh38: 5:180614074-180614076
10 FLT4 NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) SNV Pathogenic 16269 rs121909657 GRCh37: 5:180046749-180046749
GRCh38: 5:180619749-180619749
11 FLT4 NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV Likely pathogenic 692043 rs1451816005 GRCh37: 5:180043465-180043465
GRCh38: 5:180616465-180616465
12 FLT4 NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV Likely pathogenic 932061 GRCh37: 5:180040032-180040032
GRCh38: 5:180613032-180613032
13 FLT4 NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) SNV Likely pathogenic 1030389 GRCh37: 5:180036040-180036040
GRCh38: 5:180609040-180609040
14 FLT4 NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) SNV Uncertain significance 930398 GRCh37: 5:180041152-180041152
GRCh38: 5:180614152-180614152
15 FLT4 NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) SNV Uncertain significance 930555 GRCh37: 5:180038407-180038407
GRCh38: 5:180611407-180611407
Sources

Expression for Lymphatic Malformation 5

About this section
Search GEO for disease gene expression data for Lymphatic Malformation 5.
Sources

Pathways for Lymphatic Malformation 5

About this section
Sources

GO Terms for Lymphatic Malformation 5

About this section

Cellular components related to Lymphatic Malformation 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 THAP1 TAF1L TAF1 SOX18 FOXC2
2 transcription factor TFIID complex GO:0005669 8.96 TAF1L TAF1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.69 SOX18 FLT4 CCBE1
2 blood vessel development GO:0001568 9.54 SOX18 FOXC2
3 histone acetylation GO:0016573 9.52 TAF1L TAF1
4 DNA-templated transcription, initiation GO:0006352 9.49 TAF1L TAF1
5 sprouting angiogenesis GO:0002040 9.48 FLT4 CCBE1
6 respiratory gaseous exchange GO:0007585 9.46 FLT4 CCBE1
7 positive regulation of vascular endothelial growth factor production GO:0010575 9.43 FLT4 CCBE1
8 vasculature development GO:0001944 9.4 SOX18 FLT4
9 RNA polymerase II preinitiation complex assembly GO:0051123 9.37 TAF1L TAF1
10 positive regulation of endothelial cell migration GO:0010595 9.33 FOXC2 FLT4 CCBE1
11 embryonic heart tube development GO:0035050 9.32 SOX18 FOXC2
12 respiratory system process GO:0003016 9.26 FLT4 CCBE1
13 lymphangiogenesis GO:0001946 9.26 SOX18 FOXC2 FLT4 CCBE1
14 lymph vessel development GO:0001945 8.92 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 histone acetyltransferase activity GO:0004402 9.32 TAF1L TAF1
2 RNA polymerase II general transcription initiation factor activity GO:0016251 9.26 TAF1L TAF1
3 TBP-class protein binding GO:0017025 9.16 TAF1L TAF1
4 lysine-acetylated histone binding GO:0070577 8.96 TAF1L TAF1
5 sequence-specific DNA binding GO:0043565 8.92 THAP1 TAF1 SOX18 FOXC2
Sources

Sources for Lymphatic Malformation 5

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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
Content
Loading form....